Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2645 |
Reference Plasmid |
1111525849858868_bin.26__k141_70940 |
Reference Plasmid Size |
23199 |
Reference Plasmid GC Content |
0.71 |
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 |
M0050627 |
FOKHLKIH_00011 |
12664 |
10 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
254T>C |
Val85Ala |
M0050628 |
FOKHLKIH_00011 |
12811 |
10 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
107A>C |
Lys36Thr |
M0050629 |
FOKHLKIH_00011 |
12855 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
63G>C |
Ala21Ala |
M0050630 |
FOKHLKIH_00012 |
13024 |
9 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
1141A>G |
Thr381Ala |
M0050631 |
FOKHLKIH_00012 |
13028 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1137G>A |
Gln379Gln |
M0050632 |
FOKHLKIH_00012 |
13064 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1101C>G |
Ala367Ala |
M0050633 |
FOKHLKIH_00012 |
13067 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1098T>C |
Gly366Gly |
M0050634 |
FOKHLKIH_00012 |
13091 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1074A>G |
Leu358Leu |
M0050635 |
FOKHLKIH_00012 |
13229 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
936T>C |
Thr312Thr |
M0050636 |
FOKHLKIH_00012 |
13232 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
933A>G |
Glu311Glu |
M0050637 |
FOKHLKIH_00012 |
13244 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
921T>C |
Leu307Leu |
M0050638 |
FOKHLKIH_00012 |
13247 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
918C>T |
Asp306Asp |
M0050639 |
FOKHLKIH_00012 |
13261 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
904G>C |
Val302Leu |
M0050640 |
FOKHLKIH_00012 |
13262 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
903T>G |
Gly301Gly |
M0050641 |
FOKHLKIH_00012 |
13265 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
900C>G |
Ala300Ala |
M0050642 |
FOKHLKIH_00012 |
13322 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
843T>C |
Arg281Arg |
M0050643 |
FOKHLKIH_00012 |
13401 |
10 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
764C>A |
Ala255Asp |
M0050644 |
FOKHLKIH_00012 |
13661 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
504C>T |
Gly168Gly |
M0050645 |
FOKHLKIH_00012 |
13691 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
474G>C |
Ala158Ala |
M0050646 |
FOKHLKIH_00012 |
13751 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
414T>C |
Ile138Ile |
M0050647 |
FOKHLKIH_00012 |
13777 |
9 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
388G>C |
Gly130Arg |
M0050648 |
FOKHLKIH_00012 |
13851 |
11 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
314G>C |
Arg105Pro |
M0050649 |
FOKHLKIH_00012 |
14115 |
9 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
50G>A |
Gly17Glu |
M0050650 |
FOKHLKIH_00012 |
14125 |
13 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
40A>G |
Ile14Val |
M0050651 |
FOKHLKIH_00012 |
14133 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
32C>G |
Ser11Cys |
M0050652 |
FOKHLKIH_00013 |
14236 |
13 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
771C>G |
Ala257Ala |
M0050653 |
FOKHLKIH_00013 |
14262 |
13 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
745T>G |
Cys249Gly |
M0050654 |
FOKHLKIH_00013 |
14272 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
735A>G |
Gln245Gln |
M0050655 |
FOKHLKIH_00013 |
14427 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
580C>G |
Leu194Val |
M0050656 |
FOKHLKIH_00013 |
14435 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
572C>A |
Pro191Gln |
M0050657 |
FOKHLKIH_00013 |
14764 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
243G>C |
Pro81Pro |
M0050658 |
FOKHLKIH_00013 |
14829 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
178T>C |
Leu60Leu |
M0050659 |
FOKHLKIH_00014 |
15103 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
920G>A |
Arg307Lys |
M0050660 |
FOKHLKIH_00014 |
15162 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
861G>C |
Gly287Gly |
M0050661 |
FOKHLKIH_00014 |
15240 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
783G>C |
Ala261Ala |
M0050662 |
FOKHLKIH_00014 |
15342 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
681T>C |
Ala227Ala |
M0050663 |
FOKHLKIH_00014 |
15360 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
663C>T |
Ile221Ile |
M0050664 |
FOKHLKIH_00014 |
15455 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
568C>T |
Leu190Leu |
M0050665 |
FOKHLKIH_00014 |
15492 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
531T>C |
Val177Val |
M0050666 |
FOKHLKIH_00014 |
15495 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
528C>A |
Arg176Arg |
M0050667 |
FOKHLKIH_00007 |
8613 |
13 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
609C>T |
Asp203Asp |
M0050668 |
FOKHLKIH_00007 |
8841 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
837G>C |
Glu279Asp |
M0050669 |
FOKHLKIH_00008 |
9044 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
132C>A |
Ser44Ser |
M0050670 |
FOKHLKIH_00008 |
9092 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
180G>C |
Pro60Pro |
M0050671 |
FOKHLKIH_00008 |
9119 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
207T>C |
Asp69Asp |
M0050672 |
FOKHLKIH_00008 |
9127 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
215C>G |
Thr72Ser |
M0050673 |
FOKHLKIH_00008 |
9139 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
227T>C |
Ile76Thr |
M0050674 |
FOKHLKIH_00008 |
9182 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
270C>T |
Phe90Phe |
M0050675 |
FOKHLKIH_00008 |
9368 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
456C>A |
Val152Val |
M0050676 |
FOKHLKIH_00008 |
9380 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
468G>C |
Arg156Arg |
M0050677 |
FOKHLKIH_00008 |
9416 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
504C>T |
Asp168Asp |
M0050678 |
FOKHLKIH_00008 |
9419 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
507A>G |
Glu169Glu |
M0050679 |
FOKHLKIH_00008 |
9434 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
522C>G |
Leu174Leu |
M0050680 |
FOKHLKIH_00008 |
9464 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
552C>T |
Asn184Asn |
M0050681 |
FOKHLKIH_00009 |
9989 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
453A>G |
Ala151Ala |
M0050682 |
FOKHLKIH_00010 |
10443 |
10 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
895T>G |
Ser299Ala |
M0050683 |
FOKHLKIH_00010 |
10480 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
858G>C |
Val286Val |
M0050684 |
FOKHLKIH_00010 |
10486 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
852A>G |
Val284Val |
M0050685 |
FOKHLKIH_00010 |
10683 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
655T>A |
Ser219Thr |
M0050686 |
FOKHLKIH_00010 |
10726 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
612T>C |
Asp204Asp |
M0050687 |
FOKHLKIH_00010 |
11008 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
330A>G |
Gly110Gly |
M0050688 |
FOKHLKIH_00010 |
11317 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
21G>C |
Pro7Pro |
M0050689 |
FOKHLKIH_00011 |
11339 |
9 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
1579T>C |
Ser527Pro |
M0050690 |
FOKHLKIH_00011 |
11349 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1569T>G |
Arg523Arg |
M0050691 |
FOKHLKIH_00011 |
11352 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1566G>C |
Arg522Arg |
M0050692 |
FOKHLKIH_00011 |
11394 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1524T>C |
Tyr508Tyr |
M0050693 |
FOKHLKIH_00011 |
11417 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1501A>G |
Asn501Asp |
M0050694 |
FOKHLKIH_00011 |
11466 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1452T>C |
Leu484Leu |
M0050695 |
FOKHLKIH_00011 |
11481 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1437T>G |
Asp479Glu |
M0050696 |
FOKHLKIH_00011 |
11574 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1344A>G |
Glu448Glu |
M0050697 |
FOKHLKIH_00011 |
11577 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1341C>G |
Ser447Ser |
M0050698 |
FOKHLKIH_00011 |
11733 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1185T>C |
Phe395Phe |
M0050699 |
FOKHLKIH_00011 |
11940 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
978T>C |
Ile326Ile |
M0050700 |
FOKHLKIH_00011 |
11976 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
942G>C |
Val314Val |
M0050701 |
FOKHLKIH_00011 |
11979 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
939A>G |
Leu313Leu |
M0050702 |
FOKHLKIH_00011 |
11996 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
922G>C |
Val308Leu |
M0050703 |
FOKHLKIH_00011 |
12000 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
918C>G |
Leu306Leu |
M0050704 |
FOKHLKIH_00011 |
12006 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
912G>C |
Arg304Arg |
M0050705 |
FOKHLKIH_00011 |
12015 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
903T>C |
Asp301Asp |
M0050706 |
FOKHLKIH_00011 |
12285 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
633G>C |
Ala211Ala |
M0050707 |
FOKHLKIH_00011 |
12420 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
498C>T |
Asp166Asp |
M0050708 |
FOKHLKIH_00011 |
12497 |
10 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
421A>G |
Thr141Ala |
M0050709 |
FOKHLKIH_00011 |
12852 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
66C>G |
Ala22Ala |
M0050710 |
FOKHLKIH_00012 |
13556 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
609G>C |
Gly203Gly |
M0050711 |
FOKHLKIH_00013 |
14296 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
711A>G |
Glu237Glu |
M0050712 |
FOKHLKIH_00012 |
14085 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
80C>T |
Pro27Leu |
M0050713 |
FOKHLKIH_00014 |
15636 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
387G>A |
Glu129Glu |
M0050714 |
FOKHLKIH_00014 |
15951 |
12 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
72A>C |
Pro24Pro |
M0050715 |
FOKHLKIH_00014 |
15975 |
12 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
48G>C |
Gly16Gly |
M0050716 |
FOKHLKIH_00015 |
16085 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1836A>C |
Val612Val |
M0050717 |
FOKHLKIH_00015 |
16562 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1359C>T |
Leu453Leu |
M0050718 |
FOKHLKIH_00015 |
16784 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1137G>C |
Val379Val |
M0050719 |
FOKHLKIH_00015 |
16796 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1125C>G |
Thr375Thr |
M0050720 |
FOKHLKIH_00015 |
16820 |
12 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1101G>C |
Gly367Gly |
M0050721 |
FOKHLKIH_00015 |
16823 |
12 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1098C>G |
Ala366Ala |
M0050722 |
FOKHLKIH_00015 |
16829 |
12 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1092A>G |
Ser364Ser |
M0050723 |
FOKHLKIH_00015 |
16832 |
12 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1089G>C |
Gly363Gly |
M0050724 |
FOKHLKIH_00015 |
16898 |
12 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1023T>G |
Ala341Ala |
M0050725 |
FOKHLKIH_00015 |
16958 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
963C>G |
Val321Val |
M0050726 |
FOKHLKIH_00015 |
16991 |
12 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
930C>T |
Ile310Ile |
M0050727 |
FOKHLKIH_00015 |
17039 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
882T>G |
Ala294Ala |
M0050728 |
FOKHLKIH_00015 |
17048 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
873C>T |
His291His |
M0050729 |
FOKHLKIH_00015 |
17135 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
786C>G |
Val262Val |
M0050730 |
FOKHLKIH_00015 |
17224 |
9 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
697T>G |
Ser233Ala |
M0050731 |
FOKHLKIH_00015 |
17312 |
11 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
609C>G |
Cys203Trp |
M0050732 |
FOKHLKIH_00015 |
17325 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
596G>T |
Gly199Val |
M0050733 |
FOKHLKIH_00015 |
17334 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
587C>G |
Ala196Gly |
M0050734 |
FOKHLKIH_00015 |
17355 |
11 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
566C>G |
Ala189Gly |
M0050735 |
FOKHLKIH_00015 |
17369 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
552G>C |
Ala184Ala |
M0050736 |
FOKHLKIH_00016 |
18436 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
282T>C |
Ile94Ile |
M0050737 |
FOKHLKIH_00016 |
18469 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
315G>A |
Glu105Glu |
M0050738 |
FOKHLKIH_00016 |
18532 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
378C>T |
Phe126Phe |
M0050739 |
FOKHLKIH_00016 |
18607 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
453A>C |
Pro151Pro |
M0050740 |
FOKHLKIH_00016 |
18618 |
9 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
464C>T |
Ala155Val |
M0050741 |
FOKHLKIH_00016 |
18778 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
624A>G |
Lys208Lys |
M0050742 |
FOKHLKIH_00016 |
18808 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
654G>C |
Arg218Arg |
M0050743 |
FOKHLKIH_00017 |
19125 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
165G>C |
Arg55Arg |
M0050744 |
FOKHLKIH_00017 |
19131 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
171G>C |
Ala57Ala |
M0050745 |
FOKHLKIH_00017 |
19284 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
324A>C |
Val108Val |
M0050746 |
FOKHLKIH_00017 |
19903 |
9 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
943A>G |
Lys315Glu |
M0050747 |
FOKHLKIH_00017 |
19992 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1032C>G |
Pro344Pro |
M0050748 |
FOKHLKIH_00017 |
20106 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1146C>G |
Arg382Arg |
M0050749 |
FOKHLKIH_00017 |
20295 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1335C>G |
Leu445Leu |
M0050750 |
FOKHLKIH_00014 |
20390 |
9 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4368A>C |
None |
M0050751 |
FOKHLKIH_00018 |
20639 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
72G>T |
Ala24Ala |
M0050752 |
FOKHLKIH_00018 |
20651 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
60A>G |
Gln20Gln |
M0050753 |
FOKHLKIH_00018 |
20652 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
59A>G |
Gln20Arg |
M0050754 |
FOKHLKIH_00018 |
20658 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
53A>G |
His18Arg |
M0050755 |
FOKHLKIH_00018 |
20662 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
49C>G |
Pro17Ala |
M0050756 |
FOKHLKIH_00019 |
20764 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1490A>G |
Lys497Arg |
M0050757 |
FOKHLKIH_00019 |
20829 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1425T>C |
Arg475Arg |
M0050758 |
FOKHLKIH_00019 |
20907 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1347T>C |
Ile449Ile |
M0050759 |
FOKHLKIH_00019 |
21231 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1023T>C |
Gly341Gly |
M0050760 |
FOKHLKIH_00016 |
18262 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
108G>T |
Leu36Leu |
M0050761 |
FOKHLKIH_00016 |
18367 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Ile71Ile |
M0050762 |
FOKHLKIH_00016 |
18809 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
655G>T |
Ala219Ser |
M0050763 |
FOKHLKIH_00016 |
18898 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
744T>C |
Phe248Phe |
M0050764 |
FOKHLKIH_00017 |
19275 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
315C>G |
Pro105Pro |
M0050765 |
FOKHLKIH_00017 |
19335 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
375T>C |
Pro125Pro |
M0050766 |
FOKHLKIH_00017 |
19338 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
378T>C |
Ala126Ala |
M0050767 |
FOKHLKIH_00017 |
19372 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
412C>T |
Leu138Leu |
M0050768 |
FOKHLKIH_00017 |
19407 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
447G>A |
Glu149Glu |
M0050769 |
FOKHLKIH_00017 |
19430 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
470A>C |
Tyr157Ser |
M0050770 |
FOKHLKIH_00017 |
19431 |
7 |
Skin |
0.15 |
protein_coding |
stop_gained |
HIGH |
471T>G |
Tyr157* |
M0050771 |
FOKHLKIH_00017 |
19563 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
603C>T |
Ala201Ala |
M0050772 |
FOKHLKIH_00017 |
19628 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
668G>A |
Ser223Asn |
M0050773 |
FOKHLKIH_00017 |
19641 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
681C>T |
Ser227Ser |
M0050774 |
FOKHLKIH_00017 |
19701 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
741G>C |
Ala247Ala |
M0050775 |
FOKHLKIH_00017 |
19707 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
747T>C |
Asp249Asp |
M0050776 |
FOKHLKIH_00017 |
19725 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
765C>T |
Pro255Pro |
M0050777 |
FOKHLKIH_00017 |
19737 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
777G>C |
Pro259Pro |
M0050778 |
FOKHLKIH_00017 |
19953 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
993C>G |
Ala331Ala |
M0050779 |
FOKHLKIH_00017 |
20004 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1044G>T |
Val348Val |
M0050780 |
FOKHLKIH_00017 |
20005 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1045G>A |
Val349Ile |
M0050781 |
FOKHLKIH_00017 |
20093 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1133C>T |
Ala378Val |
M0050782 |
FOKHLKIH_00017 |
20250 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1290A>G |
Lys430Lys |
M0050783 |
FOKHLKIH_00017 |
20314 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1354G>C |
Gly452Arg |
M0050784 |
FOKHLKIH_00004 |
4170 |
11 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-164C>T |
None |
M0050785 |
FOKHLKIH_00004 |
4196 |
11 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-138A>T |
None |
M0050786 |
FOKHLKIH_00004 |
4203 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-131A>G |
None |
M0050787 |
FOKHLKIH_00004 |
4254 |
10 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-80C>A |
None |
M0050788 |
FOKHLKIH_00004 |
5014 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
681C>T |
Pro227Pro |
M0050789 |
FOKHLKIH_00004 |
5054 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
721C>T |
Leu241Leu |
M0050790 |
FOKHLKIH_00004 |
5074 |
12 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
741C>T |
Tyr247Tyr |
M0050791 |
FOKHLKIH_00004 |
5311 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
978G>A |
Gln326Gln |
M0050792 |
FOKHLKIH_00004 |
5415 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1082C>T |
Ser361Leu |
M0050793 |
FOKHLKIH_00004 |
5524 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1191T>C |
Tyr397Tyr |
M0050794 |
FOKHLKIH_00004 |
5635 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1302T>G |
Val434Val |
M0050795 |
FOKHLKIH_00004 |
5836 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1503C>T |
Tyr501Tyr |
M0050796 |
FOKHLKIH_00004 |
5842 |
12 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1509T>C |
Asp503Asp |
M0050797 |
FOKHLKIH_00004 |
5893 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1560C>G |
Arg520Arg |
M0050798 |
FOKHLKIH_00005 |
5997 |
12 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-118T>C |
None |
M0050799 |
FOKHLKIH_00005 |
6123 |
12 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
9A>G |
Ser3Ser |
M0050800 |
FOKHLKIH_00005 |
6207 |
13 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
93A>G |
Val31Val |
M0050801 |
FOKHLKIH_00005 |
6441 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
327G>C |
Gly109Gly |
M0050802 |
FOKHLKIH_00005 |
6708 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
594A>G |
Pro198Pro |
M0050803 |
FOKHLKIH_00006 |
7138 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
39T>C |
Ala13Ala |
M0050804 |
FOKHLKIH_00006 |
7228 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
129G>C |
Leu43Leu |
M0050805 |
FOKHLKIH_00006 |
7447 |
9 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
348C>G |
Ile116Met |
M0050806 |
FOKHLKIH_00014 |
15171 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
852C>G |
Thr284Thr |
M0050807 |
FOKHLKIH_00014 |
15444 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
579A>G |
Ala193Ala |
M0050808 |
FOKHLKIH_00014 |
15456 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
567C>G |
Ala189Ala |
M0050809 |
FOKHLKIH_00014 |
15828 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
195C>G |
Val65Val |
M0050810 |
FOKHLKIH_00004 |
5617 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1284C>G |
Ala428Ala |
M0050811 |
FOKHLKIH_00004 |
5645 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1312C>T |
Leu438Leu |
M0050812 |
FOKHLKIH_00004 |
5837 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1504A>G |
Met502Val |
M0050813 |
FOKHLKIH_00006 |
7165 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Arg22Arg |
M0050814 |
FOKHLKIH_00006 |
7786 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
687G>A |
Ala229Ala |
M0050815 |
FOKHLKIH_00006 |
7789 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
690C>G |
Gly230Gly |
M0050816 |
FOKHLKIH_00006 |
7858 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
759C>G |
Gly253Gly |
M0050817 |
FOKHLKIH_00006 |
7870 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
771C>G |
Ser257Ser |
M0050818 |
FOKHLKIH_00006 |
7970 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
871C>T |
Leu291Leu |
M0050819 |
FOKHLKIH_00007 |
8112 |
12 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
108G>C |
Leu36Leu |
M0050820 |
FOKHLKIH_00007 |
8427 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
423G>T |
Glu141Asp |
M0050821 |
FOKHLKIH_00007 |
8448 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
444G>C |
Pro148Pro |
M0050822 |
FOKHLKIH_00007 |
8451 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
447G>A |
Glu149Glu |
M0050823 |
FOKHLKIH_00007 |
8514 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
510G>C |
Ala170Ala |
M0050824 |
FOKHLKIH_00007 |
8523 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
519G>C |
Leu173Leu |
M0050825 |
FOKHLKIH_00007 |
8556 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
552A>G |
Glu184Glu |
M0050826 |
FOKHLKIH_00007 |
8562 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
558C>T |
Thr186Thr |
M0050827 |
FOKHLKIH_00007 |
8563 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
559T>A |
Ser187Thr |
M0050828 |
FOKHLKIH_00007 |
8564 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
560C>G |
Ser187Trp |
M0050829 |
FOKHLKIH_00007 |
8565 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
561G>C |
Ser187Ser |
M0050830 |
FOKHLKIH_00008 |
9578 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
666T>C |
Ile222Ile |
M0050831 |
FOKHLKIH_00008 |
9593 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
681T>C |
Thr227Thr |
M0050832 |
FOKHLKIH_00008 |
9599 |
10 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
687G>C |
Glu229Asp |
M0050833 |
FOKHLKIH_00008 |
9602 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
690C>T |
Asp230Asp |
M0050834 |
FOKHLKIH_00009 |
9758 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
684G>A |
Gly228Gly |
M0050835 |
FOKHLKIH_00009 |
9956 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
486C>T |
Ala162Ala |
M0050836 |
FOKHLKIH_00009 |
10170 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
272C>T |
Ala91Val |
M0050837 |
FOKHLKIH_00009 |
10205 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
237A>G |
Leu79Leu |
M0050838 |
FOKHLKIH_00010 |
10615 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
723C>T |
Asp241Asp |
M0050839 |
FOKHLKIH_00010 |
10663 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
675T>C |
Gly225Gly |
M0050840 |
FOKHLKIH_00010 |
10744 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
594G>C |
Arg198Arg |
M0050841 |
FOKHLKIH_00010 |
10963 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
375G>C |
Glu125Asp |
M0050842 |
FOKHLKIH_00010 |
10966 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
372C>G |
Arg124Arg |
M0050843 |
FOKHLKIH_00010 |
11300 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
38G>A |
Arg13His |
M0050844 |
FOKHLKIH_00011 |
11475 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1443G>C |
Gly481Gly |
M0050845 |
FOKHLKIH_00011 |
11655 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1263C>G |
Ser421Ser |
M0050846 |
FOKHLKIH_00011 |
11902 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1016A>G |
Asp339Gly |
M0050847 |
FOKHLKIH_00011 |
12063 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
855G>A |
Ala285Ala |
M0050848 |
FOKHLKIH_00011 |
12076 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
842C>T |
Ala281Val |
M0050849 |
FOKHLKIH_00011 |
12225 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
693G>A |
Gln231Gln |
M0050850 |
FOKHLKIH_00011 |
12348 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
570T>C |
His190His |
M0050851 |
FOKHLKIH_00011 |
12351 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
567G>C |
Thr189Thr |
M0050852 |
FOKHLKIH_00011 |
12378 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
540A>G |
Thr180Thr |
M0050853 |
FOKHLKIH_00011 |
12427 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
491C>T |
Ala164Val |
M0050854 |
FOKHLKIH_00011 |
12441 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
477C>G |
Arg159Arg |
M0050855 |
FOKHLKIH_00011 |
12482 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
436C>A |
Pro146Thr |
M0050856 |
FOKHLKIH_00010 |
10768 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
570C>T |
Gly190Gly |
M0050857 |
FOKHLKIH_00010 |
11191 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
147T>G |
Gly49Gly |
M0050858 |
FOKHLKIH_00010 |
11194 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
144T>G |
His48Gln |
M0050859 |
FOKHLKIH_00010 |
11200 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
138T>G |
Thr46Thr |
M0050860 |
FOKHLKIH_00010 |
11236 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
102C>G |
Asp34Glu |
M0050861 |
FOKHLKIH_00011 |
11839 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1079A>G |
Asp360Gly |
M0050862 |
FOKHLKIH_00011 |
12117 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
801G>A |
Pro267Pro |
M0050863 |
FOKHLKIH_00015 |
17768 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
153C>G |
Val51Val |
M0050864 |
FOKHLKIH_00015 |
17771 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
150T>C |
Asn50Asn |
M0050865 |
FOKHLKIH_00015 |
17786 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
135G>C |
Ala45Ala |
M0050866 |
FOKHLKIH_00015 |
17807 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
114C>G |
Val38Val |
M0050867 |
FOKHLKIH_00015 |
17808 |
9 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
113T>C |
Val38Ala |
M0050868 |
FOKHLKIH_00015 |
17831 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
90C>G |
Arg30Arg |
M0050869 |
FOKHLKIH_00015 |
17890 |
9 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
31A>C |
Ile11Leu |
M0050870 |
FOKHLKIH_00012 |
17981 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3817G>T |
None |
M0050871 |
FOKHLKIH_00012 |
18012 |
8 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3848T>G |
None |
M0050872 |
FOKHLKIH_00012 |
18015 |
8 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3851A>C |
None |
M0050873 |
FOKHLKIH_00012 |
18034 |
8 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3870T>C |
None |
M0050874 |
FOKHLKIH_00012 |
18056 |
8 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3892C>A |
None |
M0050875 |
FOKHLKIH_00012 |
18069 |
8 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3905G>A |
None |
M0050876 |
FOKHLKIH_00012 |
18095 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3931C>T |
None |
M0050877 |
FOKHLKIH_00012 |
18119 |
8 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3955C>G |
None |
M0050878 |
FOKHLKIH_00017 |
19536 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
576G>C |
Ala192Ala |
M0050879 |
FOKHLKIH_00014 |
20441 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4419C>T |
None |
M0050880 |
FOKHLKIH_00019 |
20872 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1382G>A |
Ser461Asn |
M0050881 |
FOKHLKIH_00019 |
20874 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1380C>G |
Leu460Leu |
M0050882 |
FOKHLKIH_00019 |
20970 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1284G>A |
Glu428Glu |
M0050883 |
FOKHLKIH_00019 |
21033 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1221T>C |
Thr407Thr |
M0050884 |
FOKHLKIH_00019 |
21078 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1176C>G |
Ala392Ala |
M0050885 |
FOKHLKIH_00019 |
21342 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
912G>C |
Val304Val |
M0050886 |
FOKHLKIH_00019 |
21372 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
882A>C |
Pro294Pro |
M0050887 |
FOKHLKIH_00019 |
21399 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
855T>C |
Pro285Pro |
M0050888 |
FOKHLKIH_00019 |
21138 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1116C>G |
Pro372Pro |
M0050889 |
FOKHLKIH_00019 |
21144 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1110C>G |
Pro370Pro |
M0050890 |
FOKHLKIH_00019 |
21150 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1104A>G |
Glu368Glu |
M0050891 |
FOKHLKIH_00019 |
21261 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
993A>G |
Glu331Glu |
M0050892 |
FOKHLKIH_00019 |
21306 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
948G>C |
Gly316Gly |
M0050893 |
FOKHLKIH_00019 |
21354 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
900G>T |
Glu300Asp |
M0050894 |
FOKHLKIH_00019 |
21377 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
877G>C |
Asp293His |
M0050895 |
FOKHLKIH_00019 |
21543 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
711A>G |
Gln237Gln |
M0050896 |
FOKHLKIH_00019 |
21574 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
680G>A |
Arg227Lys |
M0050897 |
FOKHLKIH_00019 |
21609 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
645C>G |
Leu215Leu |
M0050898 |
FOKHLKIH_00019 |
21624 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
630C>G |
Arg210Arg |
M0050899 |
FOKHLKIH_00019 |
21633 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
621G>A |
Glu207Glu |
M0050900 |
FOKHLKIH_00019 |
21708 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
546G>A |
Ser182Ser |
M0050901 |
FOKHLKIH_00019 |
21756 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
498G>C |
Leu166Leu |
M0050902 |
FOKHLKIH_00019 |
21915 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
339G>C |
Ala113Ala |
M0050903 |
FOKHLKIH_00019 |
21926 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
328A>G |
Asn110Asp |
M0050904 |
FOKHLKIH_00019 |
21929 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
325G>C |
Glu109Gln |
M0050905 |
FOKHLKIH_00019 |
21972 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
282T>C |
Ala94Ala |
M0050906 |
FOKHLKIH_00019 |
22011 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
243T>C |
Pro81Pro |
M0050907 |
FOKHLKIH_00019 |
22029 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
225C>G |
Val75Val |
M0050908 |
FOKHLKIH_00019 |
22034 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
220G>C |
Glu74Gln |
M0050909 |
FOKHLKIH_00019 |
22035 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
219C>T |
Asp73Asp |
M0050910 |
FOKHLKIH_00005 |
6624 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
510C>T |
Asn170Asn |
M0050911 |
FOKHLKIH_00007 |
8571 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
567C>G |
Leu189Leu |
M0050912 |
FOKHLKIH_00008 |
8948 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
36C>G |
Arg12Arg |
M0050913 |
FOKHLKIH_00014 |
15687 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
336G>C |
Val112Val |
M0050914 |
FOKHLKIH_00015 |
16610 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1311C>G |
Val437Val |
M0050915 |
FOKHLKIH_00015 |
16865 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1056G>C |
Thr352Thr |
M0050916 |
FOKHLKIH_00007 |
8133 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
129G>A |
Val43Val |
M0050917 |
FOKHLKIH_00010 |
10984 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
354G>C |
Thr118Thr |
M0050918 |
FOKHLKIH_00010 |
10987 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
351G>C |
Ala117Ala |
M0050919 |
FOKHLKIH_00010 |
10990 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
348G>C |
Arg116Arg |
M0050920 |
FOKHLKIH_00010 |
10993 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
345C>G |
Ile115Met |
M0050921 |
FOKHLKIH_00010 |
10995 |
5 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
343A>C |
Ile115Leu |
M0050922 |
FOKHLKIH_00010 |
11098 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Ile80Ile |
M0050923 |
FOKHLKIH_00010 |
11140 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
198T>C |
Asp66Asp |
M0050924 |
FOKHLKIH_00004 |
4026 |
8 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-308C>T |
None |
M0050925 |
FOKHLKIH_00004 |
4041 |
10 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-293T>G |
None |
M0050926 |
FOKHLKIH_00004 |
4124 |
8 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-210C>T |
None |
M0050927 |
FOKHLKIH_00004 |
4129 |
8 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-205T>C |
None |
M0050928 |
FOKHLKIH_00004 |
4873 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
540A>G |
Gln180Gln |
M0050929 |
FOKHLKIH_00005 |
6090 |
10 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-25A>G |
None |
M0050930 |
FOKHLKIH_00004 |
2768 |
7 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1566T>C |
None |
M0050931 |
FOKHLKIH_00004 |
2812 |
7 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1522A>G |
None |
M0050932 |
FOKHLKIH_00004 |
2821 |
7 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1513A>G |
None |
M0050933 |
FOKHLKIH_00004 |
2863 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1471C>G |
None |
M0050934 |
FOKHLKIH_00004 |
2866 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1468C>G |
None |
M0050935 |
FOKHLKIH_00004 |
2958 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1376A>C |
None |
M0050936 |
FOKHLKIH_00004 |
2983 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1351A>G |
None |
M0050937 |
FOKHLKIH_00004 |
2998 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1336C>T |
None |
M0050938 |
FOKHLKIH_00004 |
3010 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1324G>A |
None |
M0050939 |
FOKHLKIH_00004 |
3038 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1296C>G |
None |
M0050940 |
FOKHLKIH_00004 |
3055 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1279G>C |
None |
M0050941 |
FOKHLKIH_00004 |
3061 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1273C>T |
None |
M0050942 |
FOKHLKIH_00004 |
3787 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-547C>A |
None |
M0050943 |
FOKHLKIH_00004 |
4864 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
531C>G |
Thr177Thr |
M0050944 |
FOKHLKIH_00005 |
6068 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-47C>G |
None |
M0050945 |
FOKHLKIH_00019 |
20892 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1362G>C |
Leu454Leu |
M0050946 |
FOKHLKIH_00019 |
20895 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1359C>G |
Ser453Arg |
M0050947 |
FOKHLKIH_00019 |
20896 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1358G>C |
Ser453Thr |
M0050948 |
FOKHLKIH_00019 |
20897 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1357A>T |
Ser453Cys |
M0050949 |
FOKHLKIH_00019 |
21981 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
273C>G |
Arg91Arg |
M0050950 |
FOKHLKIH_00019 |
22205 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
49G>C |
Gly17Arg |
M0050951 |
FOKHLKIH_00019 |
22226 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
28G>C |
Gly10Arg |
M0050952 |
FOKHLKIH_00020 |
22502 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
401G>A |
Arg134Gln |
M0050953 |
FOKHLKIH_00020 |
22606 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
297C>T |
Ser99Ser |
M0050954 |
FOKHLKIH_00020 |
22627 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
276A>C |
Leu92Leu |
M0050955 |
FOKHLKIH_00020 |
22634 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
269A>C |
Glu90Ala |
M0050956 |
FOKHLKIH_00020 |
22666 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
His79His |
M0050957 |
FOKHLKIH_00020 |
22729 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
174C>T |
Leu58Leu |
M0050958 |
FOKHLKIH_00020 |
22745 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
158C>A |
Ala53Glu |
M0050959 |
FOKHLKIH_00020 |
22746 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
157G>A |
Ala53Thr |
M0050960 |
FOKHLKIH_00013 |
14858 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
149G>A |
Gly50Asp |
M0050961 |
FOKHLKIH_00013 |
14975 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
32A>C |
Gln11Pro |
M0050962 |
FOKHLKIH_00014 |
15021 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1002C>G |
Gly334Gly |
M0050963 |
FOKHLKIH_00014 |
15402 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
621G>A |
Gln207Gln |
M0050964 |
FOKHLKIH_00014 |
15972 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
Leu17Leu |
M0050965 |
FOKHLKIH_00014 |
15974 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
49C>A |
Leu17Ile |
M0050966 |
FOKHLKIH_00015 |
16709 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1212C>T |
Val404Val |
M0050967 |
FOKHLKIH_00015 |
16730 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1191G>C |
Arg397Arg |
M0050968 |
FOKHLKIH_00015 |
17566 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
355T>C |
Leu119Leu |
M0050969 |
FOKHLKIH_00004 |
3439 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-895A>G |
None |
M0050970 |
FOKHLKIH_00004 |
3448 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-886T>G |
None |
M0050971 |
FOKHLKIH_00004 |
3601 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-733C>G |
None |
M0050972 |
FOKHLKIH_00004 |
3610 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-724C>G |
None |
M0050973 |
FOKHLKIH_00004 |
3613 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-721C>G |
None |
M0050974 |
FOKHLKIH_00004 |
3678 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-656A>G |
None |
M0050975 |
FOKHLKIH_00004 |
3712 |
7 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-622G>A |
None |
M0050976 |
FOKHLKIH_00004 |
3714 |
7 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-620C>A |
None |
M0050977 |
FOKHLKIH_00004 |
3715 |
7 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-619C>G |
None |
M0050978 |
FOKHLKIH_00004 |
3718 |
7 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-616T>C |
None |
M0050979 |
FOKHLKIH_00004 |
3719 |
8 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-615A>G |
None |
M0050980 |
FOKHLKIH_00004 |
3721 |
8 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-613C>G |
None |
M0050981 |
FOKHLKIH_00004 |
4356 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
23C>T |
Thr8Met |
M0050982 |
FOKHLKIH_00004 |
5407 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1074G>T |
Leu358Leu |
M0050983 |
FOKHLKIH_00019 |
21945 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
309C>T |
Tyr103Tyr |
M0050984 |
FOKHLKIH_00019 |
22059 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
195G>C |
Thr65Thr |
M0050985 |
FOKHLKIH_00020 |
22561 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
342C>T |
His114His |
M0050986 |
FOKHLKIH_00020 |
22591 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
312C>G |
Val104Val |
M0050987 |
FOKHLKIH_00020 |
22744 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
159G>A |
Ala53Ala |
M0050988 |
FOKHLKIH_00001 |
526 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
459A>C |
Thr153Thr |
M0050989 |
FOKHLKIH_00010 |
11025 |
4 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
313A>G |
Thr105Ala |
M0050990 |
FOKHLKIH_00015 |
16554 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1367C>G |
Ala456Gly |
M0050991 |
FOKHLKIH_00015 |
16622 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1299C>T |
Val433Val |
M0050992 |
FOKHLKIH_00015 |
17107 |
5 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
814C>T |
Leu272Leu |
M0050993 |
FOKHLKIH_00015 |
17108 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
813C>T |
Ile271Ile |
M0050994 |
FOKHLKIH_00015 |
17693 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
228G>A |
Ala76Ala |
M0050995 |
FOKHLKIH_00012 |
17982 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3818A>G |
None |
M0050996 |
FOKHLKIH_00012 |
18006 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3842A>T |
None |
M0050997 |
FOKHLKIH_00012 |
18053 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3889C>T |
None |
M0050998 |
FOKHLKIH_00004 |
3702 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-632C>G |
None |
M0050999 |
FOKHLKIH_00004 |
4009 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-325C>T |
None |
M0051000 |
FOKHLKIH_00004 |
4750 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
417G>T |
Leu139Leu |
M0051001 |
FOKHLKIH_00004 |
4921 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
588C>T |
Ala196Ala |
M0051002 |
FOKHLKIH_00011 |
12611 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
307T>G |
Tyr103Asp |
M0051003 |
FOKHLKIH_00011 |
12613 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
305T>C |
Val102Ala |
M0051004 |
FOKHLKIH_00015 |
17678 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
243G>T |
Ala81Ala |
M0051005 |
FOKHLKIH_00019 |
20943 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1311G>C |
Val437Val |
M0051006 |
FOKHLKIH_00020 |
22515 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
388A>C |
Lys130Gln |
M0051007 |
FOKHLKIH_00020 |
22533 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
370A>G |
Ile124Val |
M0051008 |
FOKHLKIH_00020 |
22861 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
42C>T |
Tyr14Tyr |
M0051009 |
FOKHLKIH_00015 |
22907 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4987C>T |
None |
M0051010 |
FOKHLKIH_00015 |
22915 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4995C>T |
None |
M0051011 |
FOKHLKIH_00018 |
22928 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2218A>G |
None |
M0051012 |
FOKHLKIH_00018 |
22929 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2219A>C |
None |
M0051013 |
FOKHLKIH_00018 |
22942 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2232G>C |
None |
M0051014 |
FOKHLKIH_00018 |
22948 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2238C>G |
None |
M0051015 |
FOKHLKIH_00018 |
22951 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2241C>G |
None |
M0051016 |
FOKHLKIH_00018 |
22963 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2253C>G |
None |
M0051017 |
FOKHLKIH_00018 |
22990 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2280C>G |
None |
M0051018 |
FOKHLKIH_00018 |
23002 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2292T>C |
None |
M0051019 |
FOKHLKIH_00018 |
23020 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2310G>C |
None |
M0051020 |
FOKHLKIH_00018 |
23035 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2325G>C |
None |
M0051021 |
FOKHLKIH_00018 |
23041 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2331G>C |
None |
M0051022 |
FOKHLKIH_00018 |
23053 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2343C>G |
None |
M0051023 |
FOKHLKIH_00018 |
23056 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2346C>G |
None |
M0051024 |
FOKHLKIH_00018 |
23057 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2347G>C |
None |
M0051025 |
FOKHLKIH_00018 |
23058 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2348A>T |
None |
M0051026 |
FOKHLKIH_00018 |
23109 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2399C>G |
None |
M0051027 |
FOKHLKIH_00001 |
183 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
116G>T |
Trp39Leu |
M0051028 |
FOKHLKIH_00001 |
397 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
330C>G |
Gly110Gly |
M0051029 |
FOKHLKIH_00001 |
400 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
333C>G |
Thr111Thr |
M0051030 |
FOKHLKIH_00001 |
676 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
609A>C |
Arg203Arg |
M0051031 |
FOKHLKIH_00002 |
754 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-13T>G |
None |
M0051032 |
FOKHLKIH_00002 |
802 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
36G>C |
Thr12Thr |
M0051033 |
FOKHLKIH_00002 |
814 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
48G>C |
Ala16Ala |
M0051034 |
FOKHLKIH_00002 |
976 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
210C>G |
Pro70Pro |
M0051035 |
FOKHLKIH_00003 |
1082 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1263C>T |
None |
M0051036 |
FOKHLKIH_00003 |
1189 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1156G>A |
None |
M0051037 |
FOKHLKIH_00003 |
1708 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-637G>A |
None |
M0051038 |
FOKHLKIH_00003 |
1717 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-628G>C |
None |
M0051039 |
FOKHLKIH_00003 |
1720 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-625G>C |
None |
M0051040 |
FOKHLKIH_00003 |
1726 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-619A>G |
None |
M0051041 |
FOKHLKIH_00003 |
1732 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-613A>G |
None |
M0051042 |
FOKHLKIH_00003 |
1735 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-610C>G |
None |
M0051043 |
FOKHLKIH_00003 |
1747 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-598G>C |
None |
M0051044 |
FOKHLKIH_00003 |
1804 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-541T>C |
None |
M0051045 |
FOKHLKIH_00003 |
1813 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-532C>G |
None |
M0051046 |
FOKHLKIH_00003 |
1840 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-505G>T |
None |
M0051047 |
FOKHLKIH_00003 |
1858 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-487A>G |
None |
M0051048 |
FOKHLKIH_00003 |
1900 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-445A>C |
None |
M0051049 |
FOKHLKIH_00003 |
1941 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-404A>C |
None |
M0051050 |
FOKHLKIH_00003 |
1966 |
5 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-379T>A |
None |
M0051051 |
FOKHLKIH_00003 |
2263 |
4 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-82A>G |
None |
M0051052 |
FOKHLKIH_00003 |
2414 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
70C>T |
Arg24Trp |
M0051053 |
FOKHLKIH_00003 |
2545 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
201G>C |
Thr67Thr |
M0051054 |
FOKHLKIH_00003 |
2548 |
4 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
204C>G |
Ala68Ala |
M0051055 |
FOKHLKIH_00008 |
8971 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
59A>G |
Asp20Gly |
M0051056 |
FOKHLKIH_00003 |
2491 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
147C>G |
Asp49Glu |
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 |