Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C3250 |
Reference Plasmid |
MET0653_bin.4__k81_10540 |
Reference Plasmid Size |
25868 |
Reference Plasmid GC Content |
0.59 |
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 |
M0081663 |
GPBNIHKA_00014 |
11900 |
12 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1201G>A |
Val401Met |
M0081664 |
GPBNIHKA_00011 |
13547 |
42 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4835G>A |
None |
M0081665 |
GPBNIHKA_00017 |
15887 |
24 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
816C>A |
Thr272Thr |
M0081666 |
GPBNIHKA_00012 |
9716 |
36 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
606G>A |
Pro202Pro |
M0081667 |
GPBNIHKA_00013 |
10064 |
45 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
210A>G |
Val70Val |
M0081668 |
GPBNIHKA_00014 |
11475 |
33 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1626T>C |
Arg542Arg |
M0081669 |
GPBNIHKA_00014 |
11913 |
31 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1188C>A |
Asp396Glu |
M0081670 |
GPBNIHKA_00014 |
12303 |
50 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
798G>A |
Val266Val |
M0081671 |
GPBNIHKA_00016 |
14154 |
6 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
739A>T |
Thr247Ser |
M0081672 |
GPBNIHKA_00016 |
14173 |
6 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
720C>T |
Ile240Ile |
M0081673 |
GPBNIHKA_00016 |
14208 |
8 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
685A>G |
Thr229Ala |
M0081674 |
GPBNIHKA_00011 |
13705 |
27 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4993A>G |
None |
M0081675 |
GPBNIHKA_00022 |
19575 |
64 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
231C>T |
Gly77Gly |
M0081676 |
GPBNIHKA_00003 |
3119 |
16 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
409A>G |
Thr137Ala |
M0081677 |
GPBNIHKA_00005 |
5502 |
18 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1122T>C |
Gly374Gly |
M0081678 |
GPBNIHKA_00007 |
6434 |
10 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
35T>C |
Ile12Thr |
M0081679 |
GPBNIHKA_00012 |
9326 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
216G>A |
Thr72Thr |
M0081680 |
GPBNIHKA_00012 |
9417 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
307G>A |
Val103Met |
M0081681 |
GPBNIHKA_00012 |
9433 |
7 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
323G>A |
Arg108Gln |
M0081682 |
GPBNIHKA_00007 |
10331 |
9 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3863C>G |
None |
M0081683 |
GPBNIHKA_00007 |
10385 |
8 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3917A>C |
None |
M0081684 |
GPBNIHKA_00007 |
10469 |
9 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4001C>T |
None |
M0081685 |
GPBNIHKA_00007 |
10488 |
9 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4020A>G |
None |
M0081686 |
GPBNIHKA_00007 |
10492 |
9 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4024A>G |
None |
M0081687 |
GPBNIHKA_00007 |
10521 |
10 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4053A>G |
None |
M0081688 |
GPBNIHKA_00014 |
11422 |
32 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1679G>A |
Gly560Glu |
M0081689 |
GPBNIHKA_00014 |
11942 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1159C>T |
Leu387Leu |
M0081690 |
GPBNIHKA_00014 |
11952 |
32 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1149T>C |
Asp383Asp |
M0081691 |
GPBNIHKA_00016 |
14605 |
35 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
288A>T |
Ala96Ala |
M0081692 |
GPBNIHKA_00013 |
15047 |
17 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4774G>A |
None |
M0081693 |
GPBNIHKA_00017 |
15107 |
18 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
36G>A |
Ser12Ser |
M0081694 |
GPBNIHKA_00018 |
16594 |
10 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
534A>G |
Glu178Glu |
M0081695 |
GPBNIHKA_00018 |
16618 |
13 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
558T>C |
His186His |
M0081696 |
GPBNIHKA_00018 |
16633 |
9 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
573A>T |
Val191Val |
M0081697 |
GPBNIHKA_00020 |
18321 |
12 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
627C>T |
Asn209Asn |
M0081698 |
GPBNIHKA_00023 |
20841 |
68 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-481G>C |
None |
M0081699 |
GPBNIHKA_00026 |
24349 |
38 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
458G>A |
Gly153Asp |
M0081700 |
GPBNIHKA_00026 |
24995 |
8 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1104C>G |
Phe368Leu |
M0081701 |
GPBNIHKA_00022 |
25673 |
3 |
Skin |
0.01 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4970T>C |
None |
M0081702 |
GPBNIHKA_00020 |
17738 |
54 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
44G>A |
Gly15Glu |
M0081703 |
GPBNIHKA_00022 |
20019 |
13 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
675G>A |
Met225Ile |
M0081704 |
GPBNIHKA_00015 |
13453 |
46 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
69G>A |
Pro23Pro |
M0081705 |
GPBNIHKA_00013 |
13737 |
28 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3464G>A |
None |
M0081706 |
GPBNIHKA_00023 |
21135 |
15 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-187G>A |
None |
M0081707 |
GPBNIHKA_00023 |
21733 |
8 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
412G>T |
Ala138Ser |
M0081708 |
GPBNIHKA_00023 |
21741 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
420T>C |
Gly140Gly |
M0081709 |
GPBNIHKA_00023 |
21750 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
429A>G |
Ala143Ala |
M0081710 |
GPBNIHKA_00023 |
21759 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
438T>G |
Ala146Ala |
M0081711 |
GPBNIHKA_00023 |
21765 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
444G>A |
Glu148Glu |
M0081712 |
GPBNIHKA_00023 |
21800 |
8 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
479G>A |
Arg160His |
M0081713 |
GPBNIHKA_00025 |
22879 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2A>T |
None |
M0081714 |
GPBNIHKA_00026 |
25378 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1487C>T |
Ala496Val |
M0081715 |
GPBNIHKA_00014 |
11702 |
6 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1399G>A |
Val467Ile |
M0081716 |
GPBNIHKA_00025 |
23696 |
6 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
816G>A |
Met272Ile |
M0081717 |
GPBNIHKA_00017 |
15659 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
588T>C |
Pro196Pro |
M0081718 |
GPBNIHKA_00018 |
16426 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
366G>C |
Glu122Asp |
M0081719 |
GPBNIHKA_00018 |
16437 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
377G>C |
Arg126Thr |
M0081720 |
GPBNIHKA_00018 |
16483 |
12 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
423T>C |
Arg141Arg |
M0081721 |
GPBNIHKA_00018 |
16507 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
447C>G |
Leu149Leu |
M0081722 |
GPBNIHKA_00018 |
16535 |
4 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
475G>A |
Val159Ile |
M0081723 |
GPBNIHKA_00018 |
16552 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
492A>G |
Gly164Gly |
M0081724 |
GPBNIHKA_00018 |
16576 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
516C>A |
Thr172Thr |
M0081725 |
GPBNIHKA_00018 |
16600 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
540T>C |
Leu180Leu |
M0081726 |
GPBNIHKA_00018 |
16612 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
552T>C |
Ala184Ala |
M0081727 |
GPBNIHKA_00018 |
16625 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
565G>A |
Gly189Ser |
M0081728 |
GPBNIHKA_00023 |
21414 |
13 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Ala31Ala |
M0081729 |
GPBNIHKA_00023 |
21862 |
4 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
541G>C |
Val181Leu |
M0081730 |
GPBNIHKA_00025 |
22777 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-104G>A |
None |
M0081731 |
GPBNIHKA_00021 |
18413 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
54T>C |
Tyr18Tyr |
M0081732 |
GPBNIHKA_00021 |
18422 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
63A>G |
Glu21Glu |
M0081733 |
GPBNIHKA_00022 |
19407 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
63G>A |
Thr21Thr |
M0081734 |
GPBNIHKA_00022 |
19467 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
123T>C |
Asp41Asp |
M0081735 |
GPBNIHKA_00023 |
22059 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
738T>C |
Leu246Leu |
M0081736 |
GPBNIHKA_00023 |
22080 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
759A>G |
Val253Val |
M0081737 |
GPBNIHKA_00014 |
12264 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
837T>C |
Ile279Ile |
M0081738 |
GPBNIHKA_00016 |
14629 |
6 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
264G>A |
Thr88Thr |
M0081739 |
GPBNIHKA_00022 |
19874 |
15 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
530A>C |
Asp177Ala |
M0081740 |
GPBNIHKA_00024 |
22579 |
11 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
462G>A |
Glu154Glu |
M0081741 |
GPBNIHKA_00024 |
22683 |
12 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
566G>A |
Ser189Asn |
M0081742 |
GPBNIHKA_00025 |
23742 |
11 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
862C>T |
Arg288Cys |
M0081743 |
GPBNIHKA_00003 |
6487 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2960C>G |
None |
M0081744 |
GPBNIHKA_00003 |
6565 |
12 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3038T>C |
None |
M0081745 |
GPBNIHKA_00008 |
6814 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
121G>A |
Gly41Ser |
M0081746 |
GPBNIHKA_00009 |
7480 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
567T>C |
Gly189Gly |
M0081747 |
GPBNIHKA_00009 |
7966 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
81G>A |
Pro27Pro |
M0081748 |
GPBNIHKA_00009 |
7971 |
6 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
76T>A |
Ser26Thr |
M0081749 |
GPBNIHKA_00003 |
8058 |
7 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4531A>G |
None |
M0081750 |
GPBNIHKA_00004 |
8864 |
9 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4597C>T |
None |
M0081751 |
GPBNIHKA_00007 |
10284 |
8 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3816A>G |
None |
M0081752 |
GPBNIHKA_00007 |
10300 |
8 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3832A>G |
None |
M0081753 |
GPBNIHKA_00018 |
16705 |
12 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
645T>C |
Asp215Asp |
M0081754 |
GPBNIHKA_00021 |
18494 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
135T>C |
Ser45Ser |
M0081755 |
GPBNIHKA_00021 |
18506 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Arg49Arg |
M0081756 |
GPBNIHKA_00021 |
18539 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
180C>T |
Gly60Gly |
M0081757 |
GPBNIHKA_00021 |
18599 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Ile80Ile |
M0081758 |
GPBNIHKA_00021 |
18629 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
270G>A |
Leu90Leu |
M0081759 |
GPBNIHKA_00021 |
19001 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
642C>T |
Cys214Cys |
M0081760 |
GPBNIHKA_00021 |
19022 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
663T>C |
Phe221Phe |
M0081761 |
GPBNIHKA_00007 |
10571 |
9 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4103G>A |
None |
M0081762 |
GPBNIHKA_00014 |
12717 |
33 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
384G>T |
Gly128Gly |
M0081763 |
GPBNIHKA_00014 |
12744 |
35 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
357C>T |
Tyr119Tyr |
M0081764 |
GPBNIHKA_00014 |
12757 |
11 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
344G>A |
Gly115Asp |
M0081765 |
GPBNIHKA_00014 |
12791 |
34 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
310G>A |
Gly104Arg |
M0081766 |
GPBNIHKA_00016 |
14533 |
34 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
360A>G |
Ser120Ser |
M0081767 |
GPBNIHKA_00016 |
14548 |
35 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
345G>A |
Gly115Gly |
M0081768 |
GPBNIHKA_00014 |
12628 |
36 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
473G>A |
Gly158Asp |
M0081769 |
GPBNIHKA_00014 |
12630 |
34 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
471C>T |
Asp157Asp |
M0081770 |
GPBNIHKA_00014 |
12925 |
32 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
176C>T |
Ala59Val |
M0081771 |
GPBNIHKA_00014 |
13062 |
34 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
39C>T |
Ser13Ser |
M0081772 |
GPBNIHKA_00013 |
13796 |
31 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3523G>A |
None |
M0081773 |
GPBNIHKA_00017 |
16059 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
988G>A |
Gly330Arg |
M0081774 |
GPBNIHKA_00017 |
16060 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
989G>A |
Gly330Glu |
M0081775 |
GPBNIHKA_00018 |
16682 |
8 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
622A>C |
Lys208Gln |
M0081776 |
GPBNIHKA_00019 |
16731 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
12G>A |
Ser4Ser |
M0081777 |
GPBNIHKA_00019 |
16777 |
7 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
58G>A |
Gly20Ser |
M0081778 |
GPBNIHKA_00020 |
17916 |
13 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
222C>G |
Ser74Ser |
M0081779 |
GPBNIHKA_00020 |
18124 |
11 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
430A>C |
Arg144Arg |
M0081780 |
GPBNIHKA_00023 |
20788 |
9 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-534T>C |
None |
M0081781 |
GPBNIHKA_00013 |
13865 |
19 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3592T>G |
None |
M0081782 |
GPBNIHKA_00014 |
12652 |
10 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
449G>T |
Cys150Phe |
M0081783 |
GPBNIHKA_00015 |
13518 |
14 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
4G>A |
Asp2Asn |
M0081784 |
GPBNIHKA_00024 |
22197 |
12 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
80A>T |
Glu27Val |
M0081785 |
GPBNIHKA_00013 |
14948 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4675T>C |
None |
M0081786 |
GPBNIHKA_00014 |
11770 |
4 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1331A>G |
Asp444Gly |
M0081787 |
GPBNIHKA_00016 |
14809 |
23 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
84C>A |
Ala28Ala |
M0081788 |
GPBNIHKA_00016 |
14815 |
32 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
78A>G |
Glu26Glu |
M0081789 |
GPBNIHKA_00016 |
14850 |
32 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
43C>A |
Arg15Arg |
M0081790 |
GPBNIHKA_00016 |
14865 |
23 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
28T>A |
Leu10Met |
M0081791 |
GPBNIHKA_00016 |
14869 |
32 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
24A>G |
Gln8Gln |
M0081792 |
GPBNIHKA_00016 |
14875 |
23 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
18C>T |
His6His |
M0081793 |
GPBNIHKA_00019 |
17221 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
502A>G |
Thr168Ala |
M0081794 |
GPBNIHKA_00010 |
8472 |
4 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
73G>A |
Ala25Thr |
M0081795 |
GPBNIHKA_00014 |
12241 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
860G>A |
Arg287Gln |
M0081796 |
GPBNIHKA_00013 |
9835 |
7 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
439C>T |
Arg147Cys |
M0081797 |
GPBNIHKA_00013 |
9923 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
351G>A |
Leu117Leu |
M0081798 |
GPBNIHKA_00013 |
9957 |
6 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
317C>T |
Pro106Leu |
M0081799 |
GPBNIHKA_00013 |
10024 |
6 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
250A>G |
Ser84Gly |
M0081800 |
GPBNIHKA_00013 |
10030 |
6 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
244T>C |
Phe82Leu |
M0081801 |
GPBNIHKA_00013 |
10136 |
6 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
138G>A |
Pro46Pro |
M0081802 |
GPBNIHKA_00013 |
10179 |
6 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
95G>A |
Gly32Glu |
M0081803 |
GPBNIHKA_00013 |
10203 |
6 |
Skin |
0.02 |
protein_coding |
stop_gained |
HIGH |
71G>A |
Trp24* |
M0081804 |
GPBNIHKA_00013 |
10218 |
6 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
56C>T |
Ala19Val |
M0081805 |
GPBNIHKA_00007 |
10354 |
7 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3886T>C |
None |
M0081806 |
GPBNIHKA_00007 |
10365 |
7 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3897A>T |
None |
M0081807 |
GPBNIHKA_00007 |
10372 |
7 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3904G>A |
None |
M0081808 |
GPBNIHKA_00007 |
10433 |
7 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3965A>G |
None |
M0081809 |
GPBNIHKA_00007 |
10455 |
8 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3987A>G |
None |
M0081810 |
GPBNIHKA_00007 |
10457 |
8 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3989T>C |
None |
M0081811 |
GPBNIHKA_00014 |
12352 |
4 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
749C>T |
Ala250Val |
M0081812 |
GPBNIHKA_00026 |
25235 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1344G>T |
Ala448Ala |
M0081813 |
GPBNIHKA_00026 |
25271 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1380T>C |
Gly460Gly |
M0081814 |
GPBNIHKA_00026 |
25487 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1596T>C |
Val532Val |
M0081815 |
GPBNIHKA_00020 |
18253 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
559A>C |
Lys187Gln |
M0081816 |
GPBNIHKA_00021 |
18707 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
Val116Val |
M0081817 |
GPBNIHKA_00021 |
19160 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
801A>G |
Gly267Gly |
M0081818 |
GPBNIHKA_00021 |
19175 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
816T>C |
Tyr272Tyr |
M0081819 |
GPBNIHKA_00023 |
21547 |
9 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
226G>A |
Ala76Thr |
M0081820 |
GPBNIHKA_00023 |
21549 |
10 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
228T>C |
Ala76Ala |
M0081821 |
GPBNIHKA_00023 |
21594 |
9 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
273A>G |
Thr91Thr |
M0081822 |
GPBNIHKA_00023 |
21621 |
9 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
300A>G |
Val100Val |
M0081823 |
GPBNIHKA_00023 |
21628 |
9 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
307C>T |
Pro103Ser |
M0081824 |
GPBNIHKA_00023 |
21647 |
9 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
326C>T |
Ala109Val |
M0081825 |
GPBNIHKA_00023 |
21855 |
6 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
534C>T |
Asp178Asp |
M0081826 |
GPBNIHKA_00023 |
21866 |
6 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
545T>C |
Ile182Thr |
M0081827 |
GPBNIHKA_00023 |
21963 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
642C>T |
His214His |
M0081828 |
GPBNIHKA_00023 |
22004 |
6 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
683C>T |
Ala228Val |
M0081829 |
GPBNIHKA_00024 |
22150 |
6 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
33C>T |
Tyr11Tyr |
M0081830 |
GPBNIHKA_00024 |
22174 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
57T>C |
Cys19Cys |
M0081831 |
GPBNIHKA_00015 |
13519 |
4 |
Skin |
0.01 |
protein_coding |
start_lost |
HIGH |
3G>T |
Met1? |
M0081832 |
GPBNIHKA_00016 |
14860 |
9 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
33G>C |
Leu11Leu |
M0081833 |
GPBNIHKA_00013 |
14919 |
8 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4646A>C |
None |
M0081834 |
GPBNIHKA_00013 |
14935 |
8 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4662T>C |
None |
M0081835 |
GPBNIHKA_00013 |
14947 |
30 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4674T>C |
None |
M0081836 |
GPBNIHKA_00013 |
14968 |
9 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4695G>A |
None |
M0081837 |
GPBNIHKA_00013 |
15003 |
9 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4730G>A |
None |
M0081838 |
GPBNIHKA_00013 |
15021 |
9 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4748C>T |
None |
M0081839 |
GPBNIHKA_00013 |
15022 |
9 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4749G>A |
None |
M0081840 |
GPBNIHKA_00017 |
15128 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
57C>T |
Val19Val |
M0081841 |
GPBNIHKA_00017 |
15180 |
7 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
109C>T |
Pro37Ser |
M0081842 |
GPBNIHKA_00017 |
15182 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
111T>C |
Pro37Pro |
M0081843 |
GPBNIHKA_00017 |
15250 |
9 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
179G>A |
Ser60Asn |
M0081844 |
GPBNIHKA_00017 |
15344 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
273G>A |
Gly91Gly |
M0081845 |
GPBNIHKA_00017 |
15365 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
294C>T |
Thr98Thr |
M0081846 |
GPBNIHKA_00017 |
15401 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
330T>C |
Arg110Arg |
M0081847 |
GPBNIHKA_00017 |
15431 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
360T>C |
Thr120Thr |
M0081848 |
GPBNIHKA_00017 |
15485 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
414C>T |
Asp138Asp |
M0081849 |
GPBNIHKA_00017 |
15488 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
417T>C |
Tyr139Tyr |
M0081850 |
GPBNIHKA_00017 |
15500 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
429T>C |
Ile143Ile |
M0081851 |
GPBNIHKA_00017 |
15515 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
444C>T |
Asn148Asn |
M0081852 |
GPBNIHKA_00017 |
15545 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
474C>T |
Thr158Thr |
M0081853 |
GPBNIHKA_00017 |
15581 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
510C>T |
Ser170Ser |
M0081854 |
GPBNIHKA_00017 |
15590 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
519C>T |
Ala173Ala |
M0081855 |
GPBNIHKA_00017 |
15602 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
531A>G |
Ala177Ala |
M0081856 |
GPBNIHKA_00017 |
15608 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
537G>A |
Lys179Lys |
M0081857 |
GPBNIHKA_00017 |
15669 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
598A>C |
Arg200Arg |
M0081858 |
GPBNIHKA_00013 |
14920 |
22 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4647C>T |
None |
M0081859 |
GPBNIHKA_00013 |
14929 |
22 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4656T>C |
None |
M0081860 |
GPBNIHKA_00013 |
14965 |
21 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4692A>G |
None |
M0081861 |
GPBNIHKA_00017 |
15161 |
17 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
90C>A |
Ala30Ala |
M0081862 |
GPBNIHKA_00022 |
20496 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1152G>A |
Leu384Leu |
M0081863 |
GPBNIHKA_00023 |
20988 |
11 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-334C>T |
None |
M0081864 |
GPBNIHKA_00023 |
20993 |
11 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-329C>A |
None |
M0081865 |
GPBNIHKA_00016 |
14257 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
636G>A |
Met212Ile |
M0081866 |
GPBNIHKA_00016 |
14268 |
7 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
625A>G |
Thr209Ala |
M0081867 |
GPBNIHKA_00003 |
3363 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
165A>G |
Ser55Ser |
M0081868 |
GPBNIHKA_00012 |
9159 |
4 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
49A>G |
Ser17Gly |
M0081869 |
GPBNIHKA_00012 |
9543 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
433C>T |
Pro145Ser |
M0081870 |
GPBNIHKA_00006 |
5790 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
196G>A |
Val66Ile |
M0081871 |
GPBNIHKA_00023 |
21076 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-246C>G |
None |
M0081872 |
GPBNIHKA_00023 |
21083 |
7 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-239T>A |
None |
M0081873 |
GPBNIHKA_00023 |
21096 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-226G>C |
None |
M0081874 |
GPBNIHKA_00023 |
21151 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-171A>G |
None |
M0081875 |
GPBNIHKA_00023 |
21153 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-169A>C |
None |
M0081876 |
GPBNIHKA_00023 |
21176 |
7 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-146C>A |
None |
M0081877 |
GPBNIHKA_00023 |
21218 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-104G>A |
None |
M0081878 |
GPBNIHKA_00023 |
21240 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-82A>G |
None |
M0081879 |
GPBNIHKA_00023 |
21247 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-75T>G |
None |
M0081880 |
GPBNIHKA_00023 |
21295 |
9 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-27A>G |
None |
M0081881 |
GPBNIHKA_00023 |
21355 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
34G>C |
Val12Leu |
M0081882 |
GPBNIHKA_00023 |
21364 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
43T>C |
Leu15Leu |
M0081883 |
GPBNIHKA_00023 |
21465 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
144C>T |
Val48Val |
M0081884 |
GPBNIHKA_00023 |
21912 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
591G>A |
Gly197Gly |
M0081885 |
GPBNIHKA_00018 |
16348 |
6 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
288C>T |
Ile96Ile |
M0081886 |
GPBNIHKA_00016 |
14059 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
834C>T |
Ala278Ala |
M0081887 |
GPBNIHKA_00016 |
14077 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
816C>T |
Thr272Thr |
M0081888 |
GPBNIHKA_00016 |
14086 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
807A>G |
Pro269Pro |
M0081889 |
GPBNIHKA_00016 |
14128 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
765C>T |
Asp255Asp |
M0081890 |
GPBNIHKA_00016 |
14335 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
558C>T |
Ala186Ala |
M0081891 |
GPBNIHKA_00016 |
14353 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
540A>G |
Ala180Ala |
M0081892 |
GPBNIHKA_00016 |
14377 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
516G>T |
Pro172Pro |
M0081893 |
GPBNIHKA_00016 |
14404 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
489G>A |
Gly163Gly |
M0081894 |
GPBNIHKA_00016 |
14419 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
474A>G |
Leu158Leu |
M0081895 |
GPBNIHKA_00016 |
14437 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
456C>T |
Pro152Pro |
M0081896 |
GPBNIHKA_00016 |
14470 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
423G>A |
Gly141Gly |
M0081897 |
GPBNIHKA_00016 |
14476 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
417T>C |
Ile139Ile |
M0081898 |
GPBNIHKA_00016 |
14479 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
414T>G |
Ala138Ala |
M0081899 |
GPBNIHKA_00016 |
14536 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
357G>A |
Ala119Ala |
M0081900 |
GPBNIHKA_00017 |
15800 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
729C>T |
Arg243Arg |
M0081901 |
GPBNIHKA_00017 |
15836 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
765C>G |
Leu255Leu |
M0081902 |
GPBNIHKA_00017 |
15875 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
804T>C |
Ile268Ile |
M0081903 |
GPBNIHKA_00017 |
15890 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
819C>T |
Asp273Asp |
M0081904 |
GPBNIHKA_00017 |
15911 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
840A>G |
Gln280Gln |
M0081905 |
GPBNIHKA_00017 |
15935 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
864C>T |
Gly288Gly |
M0081906 |
GPBNIHKA_00017 |
15965 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
894A>G |
Pro298Pro |
M0081907 |
GPBNIHKA_00017 |
16004 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
933T>C |
Val311Val |
M0081908 |
GPBNIHKA_00018 |
16111 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
51G>A |
Pro17Pro |
M0081909 |
GPBNIHKA_00018 |
16120 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
60G>C |
Leu20Leu |
M0081910 |
GPBNIHKA_00018 |
16132 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
72C>T |
Ala24Ala |
M0081911 |
GPBNIHKA_00018 |
16246 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
186T>C |
Ala62Ala |
M0081912 |
GPBNIHKA_00018 |
16255 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
195C>T |
Arg65Arg |
M0081913 |
GPBNIHKA_00018 |
16264 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
204A>G |
Glu68Glu |
M0081914 |
GPBNIHKA_00018 |
16294 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
234T>C |
Phe78Phe |
M0081915 |
GPBNIHKA_00018 |
16318 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Ser86Ser |
M0081916 |
GPBNIHKA_00018 |
16330 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
270A>G |
Gly90Gly |
M0081917 |
GPBNIHKA_00018 |
16369 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
309C>T |
Ala103Ala |
M0081918 |
GPBNIHKA_00019 |
16820 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
101A>T |
Asn34Ile |
M0081919 |
GPBNIHKA_00019 |
16845 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
126C>T |
Ser42Ser |
M0081920 |
GPBNIHKA_00019 |
16848 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
129C>T |
Phe43Phe |
M0081921 |
GPBNIHKA_00019 |
16872 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
153T>C |
Ser51Ser |
M0081922 |
GPBNIHKA_00019 |
16883 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
164T>C |
Met55Thr |
M0081923 |
GPBNIHKA_00019 |
16884 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
165G>A |
Met55Ile |
M0081924 |
GPBNIHKA_00019 |
16894 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
175G>C |
Gly59Arg |
M0081925 |
GPBNIHKA_00019 |
16895 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
176G>A |
Gly59Glu |
M0081926 |
GPBNIHKA_00019 |
16934 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
215T>C |
Val72Ala |
M0081927 |
GPBNIHKA_00019 |
16942 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
223A>G |
Thr75Ala |
M0081928 |
GPBNIHKA_00019 |
16956 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
Ile79Ile |
M0081929 |
GPBNIHKA_00019 |
16971 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
252G>A |
Leu84Leu |
M0081930 |
GPBNIHKA_00019 |
17330 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
611T>C |
Val204Ala |
M0081931 |
GPBNIHKA_00019 |
17344 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
625G>A |
Glu209Lys |
M0081932 |
GPBNIHKA_00019 |
17382 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
663G>A |
Lys221Lys |
M0081933 |
GPBNIHKA_00019 |
17389 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
670A>C |
Arg224Arg |
M0081934 |
GPBNIHKA_00019 |
17397 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
678C>T |
Gly226Gly |
M0081935 |
GPBNIHKA_00019 |
17427 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
708C>A |
Gly236Gly |
M0081936 |
GPBNIHKA_00019 |
17527 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
808A>G |
Thr270Ala |
M0081937 |
GPBNIHKA_00019 |
17545 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
826C>T |
Arg276Cys |
M0081938 |
GPBNIHKA_00019 |
17603 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
884T>C |
Phe295Ser |
M0081939 |
GPBNIHKA_00014 |
17623 |
4 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4523A>G |
None |
M0081940 |
GPBNIHKA_00014 |
17648 |
4 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4548A>G |
None |
M0081941 |
GPBNIHKA_00014 |
17670 |
4 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4570T>A |
None |
M0081942 |
GPBNIHKA_00014 |
17691 |
4 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4591G>A |
None |
M0081943 |
GPBNIHKA_00020 |
17736 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
42C>A |
Leu14Leu |
M0081944 |
GPBNIHKA_00020 |
17751 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
57T>C |
His19His |
M0081945 |
GPBNIHKA_00020 |
17880 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
Asp62Asp |
M0081946 |
GPBNIHKA_00020 |
17900 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
206A>G |
His69Arg |
M0081947 |
GPBNIHKA_00020 |
17908 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
214G>C |
Ala72Pro |
M0081948 |
GPBNIHKA_00020 |
17994 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
300C>T |
Ala100Ala |
M0081949 |
GPBNIHKA_00020 |
18027 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
333C>A |
Pro111Pro |
M0081950 |
GPBNIHKA_00020 |
18033 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
339A>C |
Ala113Ala |
M0081951 |
GPBNIHKA_00020 |
18071 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
377C>G |
Pro126Arg |
M0081952 |
GPBNIHKA_00020 |
18141 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
447G>C |
Ser149Ser |
M0081953 |
GPBNIHKA_00021 |
19121 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
762C>T |
Val254Val |
M0081954 |
GPBNIHKA_00021 |
19232 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
873T>C |
Ala291Ala |
M0081955 |
GPBNIHKA_00022 |
19570 |
4 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
226A>G |
Ile76Val |
M0081956 |
GPBNIHKA_00022 |
19572 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
228T>C |
Ile76Ile |
M0081957 |
GPBNIHKA_00022 |
19576 |
4 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
232G>T |
Ala78Ser |
M0081958 |
GPBNIHKA_00022 |
19593 |
6 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
249T>C |
Arg83Arg |
M0081959 |
GPBNIHKA_00022 |
19668 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
324A>T |
Ser108Ser |
M0081960 |
GPBNIHKA_00022 |
19722 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
378G>A |
Val126Val |
M0081961 |
GPBNIHKA_00022 |
19803 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
459T>C |
Leu153Leu |
M0081962 |
GPBNIHKA_00022 |
19890 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
546C>T |
Leu182Leu |
M0081963 |
GPBNIHKA_00022 |
19917 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
573C>T |
Phe191Phe |
M0081964 |
GPBNIHKA_00022 |
20097 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
753C>T |
Tyr251Tyr |
M0081965 |
GPBNIHKA_00022 |
20154 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
810T>C |
Phe270Phe |
M0081966 |
GPBNIHKA_00022 |
20238 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
894T>C |
Val298Val |
M0081967 |
GPBNIHKA_00022 |
20259 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
915G>A |
Gly305Gly |
M0081968 |
GPBNIHKA_00022 |
20301 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
957A>G |
Arg319Arg |
M0081969 |
GPBNIHKA_00022 |
20451 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1107T>C |
Ala369Ala |
M0081970 |
GPBNIHKA_00022 |
20517 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1173C>T |
Gly391Gly |
M0081971 |
GPBNIHKA_00022 |
20607 |
6 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1263T>C |
Phe421Phe |
M0081972 |
GPBNIHKA_00022 |
20617 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1273A>G |
Ile425Val |
M0081973 |
GPBNIHKA_00022 |
20638 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1294G>A |
Val432Ile |
M0081974 |
GPBNIHKA_00022 |
20655 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1311G>A |
Thr437Thr |
M0081975 |
GPBNIHKA_00022 |
20696 |
6 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1352C>A |
Thr451Lys |
M0081976 |
GPBNIHKA_00022 |
20700 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1356C>T |
Ile452Ile |
M0081977 |
GPBNIHKA_00023 |
20715 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-607A>G |
None |
M0081978 |
GPBNIHKA_00023 |
20742 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-580C>T |
None |
M0081979 |
GPBNIHKA_00023 |
20750 |
6 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-572A>G |
None |
M0081980 |
GPBNIHKA_00023 |
20760 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-562G>A |
None |
M0081981 |
GPBNIHKA_00023 |
20813 |
7 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-509G>A |
None |
M0081982 |
GPBNIHKA_00023 |
20827 |
6 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-495G>C |
None |
M0081983 |
GPBNIHKA_00023 |
20861 |
6 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-461G>A |
None |
M0081984 |
GPBNIHKA_00023 |
20894 |
6 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-428T>C |
None |
M0081985 |
GPBNIHKA_00023 |
20913 |
6 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-409T>C |
None |
M0081986 |
GPBNIHKA_00023 |
20930 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-392T>C |
None |
M0081987 |
GPBNIHKA_00023 |
20953 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-369A>G |
None |
M0081988 |
GPBNIHKA_00023 |
20964 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-358C>T |
None |
M0081989 |
GPBNIHKA_00019 |
17064 |
6 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
345C>T |
His115His |
M0081990 |
GPBNIHKA_00021 |
18593 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Ser78Ser |
M0081991 |
GPBNIHKA_00004 |
9045 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4778G>A |
None |
M0081992 |
GPBNIHKA_00004 |
9047 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4780T>C |
None |
M0081993 |
GPBNIHKA_00004 |
9077 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4810T>C |
None |
M0081994 |
GPBNIHKA_00004 |
9086 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4819T>C |
None |
M0081995 |
GPBNIHKA_00004 |
9087 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4820G>A |
None |
M0081996 |
GPBNIHKA_00004 |
9093 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4826A>T |
None |
M0081997 |
GPBNIHKA_00004 |
9105 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4838G>A |
None |
M0081998 |
GPBNIHKA_00012 |
9120 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
10A>G |
Ser4Gly |
M0081999 |
GPBNIHKA_00012 |
9122 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
12C>T |
Ser4Ser |
M0082000 |
GPBNIHKA_00012 |
9123 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
13C>T |
His5Tyr |
M0082001 |
GPBNIHKA_00012 |
9134 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
24C>T |
Ala8Ala |
M0082002 |
GPBNIHKA_00012 |
9156 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
46T>C |
Tyr16His |
M0082003 |
GPBNIHKA_00012 |
9191 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
81T>C |
Tyr27Tyr |
M0082004 |
GPBNIHKA_00012 |
9201 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
91G>A |
Ala31Thr |
M0082005 |
GPBNIHKA_00012 |
9240 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
130A>G |
Ser44Gly |
M0082006 |
GPBNIHKA_00012 |
9353 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
243C>T |
Arg81Arg |
M0082007 |
GPBNIHKA_00012 |
9356 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
246G>A |
Lys82Lys |
M0082008 |
GPBNIHKA_00012 |
9487 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
377C>T |
Ala126Val |
M0082009 |
GPBNIHKA_00012 |
9498 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
388C>T |
Arg130Trp |
M0082010 |
GPBNIHKA_00012 |
9529 |
4 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
419T>G |
Val140Gly |
M0082011 |
GPBNIHKA_00012 |
9698 |
4 |
Skin |
0.01 |
protein_coding |
stop_gained |
HIGH |
588G>A |
Trp196* |
M0082012 |
GPBNIHKA_00009 |
6955 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1092G>A |
Lys364Lys |
M0082013 |
GPBNIHKA_00003 |
2019 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1509C>T |
Gly503Gly |
M0082014 |
GPBNIHKA_00021 |
18785 |
6 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Thr142Thr |
M0082015 |
GPBNIHKA_00001 |
620 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
64G>A |
Val22Ile |
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 |