Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C37 |
Reference Plasmid |
AP024748.1 |
Reference Plasmid Size |
59050 |
Reference Plasmid GC Content |
0.58 |
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 |
M0057599 |
BDIPABHK_00027 |
31953 |
186 |
Skin |
0.41 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4437T>C |
None |
M0057600 |
BDIPABHK_00027 |
32031 |
166 |
Skin |
0.37 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4515A>C |
None |
M0057601 |
BDIPABHK_00027 |
32044 |
166 |
Skin |
0.37 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4528C>T |
None |
M0057602 |
BDIPABHK_00033 |
32069 |
198 |
Skin |
0.44 |
protein_coding |
missense_variant |
MODERATE |
20C>T |
Ala7Val |
M0057603 |
BDIPABHK_00033 |
32318 |
132 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
269G>A |
Arg90His |
M0057604 |
BDIPABHK_00061 |
57175 |
104 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
261C>T |
Phe87Phe |
M0057605 |
BDIPABHK_00061 |
57280 |
131 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
366C>A |
Ala122Ala |
M0057606 |
BDIPABHK_00061 |
57472 |
132 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
558T>C |
Asp186Asp |
M0057607 |
BDIPABHK_00061 |
57474 |
132 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
560T>C |
Val187Ala |
M0057608 |
BDIPABHK_00061 |
57476 |
132 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
562C>G |
Gln188Glu |
M0057609 |
BDIPABHK_00061 |
57499 |
132 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
585C>T |
Tyr195Tyr |
M0057610 |
BDIPABHK_00061 |
57520 |
132 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
606A>G |
Arg202Arg |
M0057611 |
BDIPABHK_00061 |
57550 |
132 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
636C>T |
Val212Val |
M0057612 |
BDIPABHK_00062 |
57585 |
132 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
9A>G |
Lys3Lys |
M0057613 |
BDIPABHK_00062 |
57651 |
131 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
75G>A |
Gly25Gly |
M0057614 |
BDIPABHK_00062 |
57654 |
131 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
78C>T |
Ala26Ala |
M0057615 |
BDIPABHK_00062 |
57661 |
131 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
85G>T |
Ala29Ser |
M0057616 |
BDIPABHK_00062 |
57663 |
131 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
87C>T |
Ala29Ala |
M0057617 |
BDIPABHK_00062 |
57669 |
131 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Thr31Thr |
M0057618 |
BDIPABHK_00062 |
57672 |
131 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
96C>T |
Phe32Phe |
M0057619 |
BDIPABHK_00062 |
57711 |
132 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
135A>G |
Lys45Lys |
M0057620 |
BDIPABHK_00062 |
57714 |
132 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
138G>A |
Leu46Leu |
M0057621 |
BDIPABHK_00062 |
57717 |
131 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
141T>C |
Pro47Pro |
M0057622 |
BDIPABHK_00062 |
57723 |
131 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Ala49Ala |
M0057623 |
BDIPABHK_00033 |
32405 |
34 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
356A>C |
Asn119Thr |
M0057624 |
BDIPABHK_00055 |
50728 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
336G>A |
Leu112Leu |
M0057625 |
BDIPABHK_00055 |
50740 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
348T>C |
Cys116Cys |
M0057626 |
BDIPABHK_00055 |
50996 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
604G>A |
Val202Ile |
M0057627 |
BDIPABHK_00055 |
51074 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
682G>A |
Gly228Arg |
M0057628 |
BDIPABHK_00055 |
51081 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
689G>A |
Arg230Lys |
M0057629 |
BDIPABHK_00056 |
51128 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
36A>C |
Lys12Asn |
M0057630 |
BDIPABHK_00056 |
51134 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
42G>A |
Ala14Ala |
M0057631 |
BDIPABHK_00056 |
51137 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
45T>G |
Val15Val |
M0057632 |
BDIPABHK_00056 |
51178 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
86A>G |
His29Arg |
M0057633 |
BDIPABHK_00056 |
51281 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
189C>T |
Val63Val |
M0057634 |
BDIPABHK_00056 |
51602 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
510C>T |
Gly170Gly |
M0057635 |
BDIPABHK_00056 |
51842 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
750C>T |
Asn250Asn |
M0057636 |
BDIPABHK_00056 |
52085 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
993T>C |
Tyr331Tyr |
M0057637 |
BDIPABHK_00056 |
52124 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1032T>C |
Leu344Leu |
M0057638 |
BDIPABHK_00056 |
52195 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1103G>A |
Gly368Glu |
M0057639 |
BDIPABHK_00057 |
52424 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-567T>C |
None |
M0057640 |
BDIPABHK_00057 |
52536 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-455T>C |
None |
M0057641 |
BDIPABHK_00057 |
52548 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-443T>G |
None |
M0057642 |
BDIPABHK_00057 |
52557 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-434T>C |
None |
M0057643 |
BDIPABHK_00057 |
52559 |
16 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-432A>C |
None |
M0057644 |
BDIPABHK_00057 |
52577 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-414G>A |
None |
M0057645 |
BDIPABHK_00057 |
52602 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-389T>G |
None |
M0057646 |
BDIPABHK_00057 |
52749 |
23 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-242G>A |
None |
M0057647 |
BDIPABHK_00057 |
52778 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-213T>C |
None |
M0057648 |
BDIPABHK_00057 |
52789 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-202G>C |
None |
M0057649 |
BDIPABHK_00057 |
52859 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-132T>G |
None |
M0057650 |
BDIPABHK_00057 |
52947 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-44A>G |
None |
M0057651 |
BDIPABHK_00057 |
52958 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-33A>C |
None |
M0057652 |
BDIPABHK_00057 |
52961 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-30T>C |
None |
M0057653 |
BDIPABHK_00057 |
52974 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-17G>C |
None |
M0057654 |
BDIPABHK_00057 |
52979 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-12T>C |
None |
M0057655 |
BDIPABHK_00057 |
53023 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
33G>A |
Ser11Ser |
M0057656 |
BDIPABHK_00057 |
53026 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
36G>A |
Lys12Lys |
M0057657 |
BDIPABHK_00057 |
53029 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
39T>G |
Ser13Ser |
M0057658 |
BDIPABHK_00057 |
53044 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
54C>T |
Arg18Arg |
M0057659 |
BDIPABHK_00057 |
53155 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
165A>G |
Arg55Arg |
M0057660 |
BDIPABHK_00057 |
53419 |
16 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
429A>G |
Gln143Gln |
M0057661 |
BDIPABHK_00057 |
53480 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
490C>A |
Leu164Ile |
M0057662 |
BDIPABHK_00057 |
53615 |
29 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
625T>C |
Ser209Pro |
M0057663 |
BDIPABHK_00057 |
53725 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
735C>T |
Ser245Ser |
M0057664 |
BDIPABHK_00057 |
53773 |
33 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
783T>G |
Ser261Ser |
M0057665 |
BDIPABHK_00057 |
54034 |
38 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1044T>C |
Thr348Thr |
M0057666 |
BDIPABHK_00057 |
54205 |
40 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1215T>C |
Cys405Cys |
M0057667 |
BDIPABHK_00058 |
54261 |
41 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
54T>C |
Gly18Gly |
M0057668 |
BDIPABHK_00058 |
54303 |
23 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
96C>T |
Phe32Phe |
M0057669 |
BDIPABHK_00058 |
54304 |
23 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
97C>T |
His33Tyr |
M0057670 |
BDIPABHK_00059 |
54370 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1062A>G |
None |
M0057671 |
BDIPABHK_00059 |
54537 |
49 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-895G>T |
None |
M0057672 |
BDIPABHK_00059 |
54687 |
56 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-745C>A |
None |
M0057673 |
BDIPABHK_00059 |
54771 |
36 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-661A>G |
None |
M0057674 |
BDIPABHK_00059 |
54780 |
19 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-652A>G |
None |
M0057675 |
BDIPABHK_00059 |
54845 |
49 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-587C>T |
None |
M0057676 |
BDIPABHK_00059 |
54846 |
56 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-586G>T |
None |
M0057677 |
BDIPABHK_00059 |
54894 |
57 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-538G>T |
None |
M0057678 |
BDIPABHK_00059 |
54915 |
57 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-517C>G |
None |
M0057679 |
BDIPABHK_00059 |
54916 |
57 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-516C>T |
None |
M0057680 |
BDIPABHK_00059 |
54963 |
57 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-469G>A |
None |
M0057681 |
BDIPABHK_00059 |
54967 |
57 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-465C>T |
None |
M0057682 |
BDIPABHK_00059 |
54969 |
57 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-463T>C |
None |
M0057683 |
BDIPABHK_00059 |
55016 |
40 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-416C>T |
None |
M0057684 |
BDIPABHK_00059 |
55094 |
55 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-338A>G |
None |
M0057685 |
BDIPABHK_00059 |
55180 |
28 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-252C>T |
None |
M0057686 |
BDIPABHK_00059 |
55231 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-201C>T |
None |
M0057687 |
BDIPABHK_00061 |
56943 |
105 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
29T>C |
Met10Thr |
M0057688 |
BDIPABHK_00061 |
56961 |
78 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
47C>T |
Thr16Ile |
M0057689 |
BDIPABHK_00061 |
57014 |
89 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
100A>G |
Ile34Val |
M0057690 |
BDIPABHK_00037 |
34232 |
61 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
88G>A |
Ala30Thr |
M0057691 |
BDIPABHK_00037 |
34375 |
73 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
231T>C |
Ala77Ala |
M0057692 |
BDIPABHK_00038 |
34714 |
98 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
256G>A |
Ala86Thr |
M0057693 |
BDIPABHK_00038 |
34720 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
262T>C |
Phe88Leu |
M0057694 |
BDIPABHK_00039 |
34946 |
108 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
424A>G |
Thr142Ala |
M0057695 |
BDIPABHK_00039 |
35003 |
109 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
367C>T |
Leu123Leu |
M0057696 |
BDIPABHK_00039 |
35040 |
114 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
330C>T |
Ala110Ala |
M0057697 |
BDIPABHK_00040 |
35564 |
126 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
483A>G |
Gln161Gln |
M0057698 |
BDIPABHK_00040 |
35920 |
128 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
127C>T |
Leu43Leu |
M0057699 |
BDIPABHK_00041 |
36125 |
129 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
12T>C |
Ile4Ile |
M0057700 |
BDIPABHK_00043 |
37005 |
183 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
33G>A |
Ser11Ser |
M0057701 |
BDIPABHK_00043 |
37046 |
200 |
Skin |
0.44 |
protein_coding |
missense_variant |
MODERATE |
74G>T |
Arg25Leu |
M0057702 |
BDIPABHK_00043 |
37337 |
46 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
365G>A |
Arg122His |
M0057703 |
BDIPABHK_00044 |
37701 |
214 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
99A>G |
Glu33Glu |
M0057704 |
BDIPABHK_00045 |
38165 |
34 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
45C>A |
Pro15Pro |
M0057705 |
BDIPABHK_00045 |
38270 |
213 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
150A>G |
Ala50Ala |
M0057706 |
BDIPABHK_00045 |
39030 |
212 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
910G>T |
Val304Phe |
M0057707 |
BDIPABHK_00045 |
39609 |
35 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1489C>G |
Leu497Val |
M0057708 |
BDIPABHK_00045 |
39813 |
152 |
Skin |
0.34 |
protein_coding |
missense_variant |
MODERATE |
1693A>G |
Thr565Ala |
M0057709 |
BDIPABHK_00046 |
40285 |
23 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
466C>T |
Leu156Leu |
M0057710 |
BDIPABHK_00046 |
40288 |
127 |
Skin |
0.28 |
protein_coding |
missense_variant |
MODERATE |
469T>C |
Ser157Pro |
M0057711 |
BDIPABHK_00046 |
40389 |
70 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
570A>C |
Arg190Arg |
M0057712 |
BDIPABHK_00046 |
40448 |
83 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
629G>T |
Arg210Leu |
M0057713 |
BDIPABHK_00047 |
41043 |
108 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
55T>C |
Trp19Arg |
M0057714 |
BDIPABHK_00047 |
41078 |
105 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
90T>C |
Asp30Asp |
M0057715 |
BDIPABHK_00048 |
41145 |
108 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
11T>C |
Val4Ala |
M0057716 |
BDIPABHK_00048 |
41225 |
92 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
91C>G |
Arg31Gly |
M0057717 |
BDIPABHK_00048 |
41270 |
98 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
136A>G |
Ile46Val |
M0057718 |
BDIPABHK_00049 |
41419 |
89 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-104T>C |
None |
M0057719 |
BDIPABHK_00049 |
41554 |
84 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
32G>A |
Gly11Glu |
M0057720 |
BDIPABHK_00049 |
41699 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
177T>C |
Leu59Leu |
M0057721 |
BDIPABHK_00049 |
41830 |
57 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
308C>T |
Ser103Phe |
M0057722 |
BDIPABHK_00049 |
41982 |
32 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
460G>T |
Asp154Tyr |
M0057723 |
BDIPABHK_00049 |
42151 |
67 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
629A>G |
His210Arg |
M0057724 |
BDIPABHK_00050 |
42426 |
60 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
627T>C |
Val209Val |
M0057725 |
BDIPABHK_00050 |
42657 |
42 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
396G>A |
Thr132Thr |
M0057726 |
BDIPABHK_00050 |
42702 |
23 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
351G>A |
Val117Val |
M0057727 |
BDIPABHK_00050 |
42953 |
57 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
100C>A |
Arg34Arg |
M0057728 |
BDIPABHK_00050 |
43041 |
41 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
12T>C |
Ile4Ile |
M0057729 |
BDIPABHK_00050 |
43218 |
56 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-166A>C |
None |
M0057730 |
BDIPABHK_00050 |
43311 |
34 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-259A>C |
None |
M0057731 |
BDIPABHK_00050 |
43334 |
35 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-282T>G |
None |
M0057732 |
BDIPABHK_00051 |
43615 |
33 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
277C>G |
Leu93Val |
M0057733 |
BDIPABHK_00051 |
43809 |
32 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
471A>G |
Lys157Lys |
M0057734 |
BDIPABHK_00052 |
44503 |
28 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
163G>A |
Ala55Thr |
M0057735 |
BDIPABHK_00052 |
44847 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
507T>C |
Asp169Asp |
M0057736 |
BDIPABHK_00052 |
44906 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
566T>C |
Val189Ala |
M0057737 |
BDIPABHK_00052 |
45304 |
43 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
964A>G |
Asn322Asp |
M0057738 |
BDIPABHK_00053 |
45362 |
43 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
25A>G |
Lys9Glu |
M0057739 |
BDIPABHK_00053 |
45499 |
42 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
162C>T |
Asp54Asp |
M0057740 |
BDIPABHK_00053 |
45589 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
252A>G |
Arg84Arg |
M0057741 |
BDIPABHK_00053 |
45669 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
332C>T |
Thr111Ile |
M0057742 |
BDIPABHK_00053 |
45776 |
42 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
439A>G |
Thr147Ala |
M0057743 |
BDIPABHK_00053 |
45824 |
23 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
487G>A |
Ala163Thr |
M0057744 |
BDIPABHK_00053 |
46648 |
19 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1311A>G |
Glu437Glu |
M0057745 |
BDIPABHK_00053 |
46651 |
19 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1314T>C |
Asn438Asn |
M0057746 |
BDIPABHK_00053 |
46662 |
19 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1325G>A |
Arg442Gln |
M0057747 |
BDIPABHK_00053 |
46693 |
19 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1356G>A |
Val452Val |
M0057748 |
BDIPABHK_00053 |
46747 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1410G>A |
Thr470Thr |
M0057749 |
BDIPABHK_00053 |
46873 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1536C>T |
Cys512Cys |
M0057750 |
BDIPABHK_00053 |
47305 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1968T>C |
Asp656Asp |
M0057751 |
BDIPABHK_00053 |
48028 |
24 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2691G>A |
Ala897Ala |
M0057752 |
BDIPABHK_00053 |
48034 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2697T>C |
Phe899Phe |
M0057753 |
BDIPABHK_00053 |
48455 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
3118T>C |
Leu1040Leu |
M0057754 |
BDIPABHK_00053 |
48550 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
3213G>A |
Ser1071Ser |
M0057755 |
BDIPABHK_00053 |
48583 |
24 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3246C>T |
Thr1082Thr |
M0057756 |
BDIPABHK_00053 |
48607 |
24 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3270G>T |
Ser1090Ser |
M0057757 |
BDIPABHK_00054 |
48684 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
28G>C |
Gly10Arg |
M0057758 |
BDIPABHK_00054 |
48809 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
153A>G |
Glu51Glu |
M0057759 |
BDIPABHK_00054 |
48842 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
Leu62Leu |
M0057760 |
BDIPABHK_00054 |
48851 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
195C>T |
Ser65Ser |
M0057761 |
BDIPABHK_00054 |
48922 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
266T>G |
Ile89Ser |
M0057762 |
BDIPABHK_00054 |
48963 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
307C>T |
Pro103Ser |
M0057763 |
BDIPABHK_00054 |
49420 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
764C>T |
Ala255Val |
M0057764 |
BDIPABHK_00054 |
49586 |
16 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
930T>C |
Gly310Gly |
M0057765 |
BDIPABHK_00054 |
49587 |
16 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
931A>G |
Lys311Glu |
M0057766 |
BDIPABHK_00054 |
49944 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1288T>G |
Phe430Val |
M0057767 |
BDIPABHK_00054 |
50081 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1425A>C |
Ile475Ile |
M0057768 |
BDIPABHK_00054 |
50088 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1432T>A |
Cys478Ser |
M0057769 |
BDIPABHK_00054 |
50096 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1440T>C |
Cys480Cys |
M0057770 |
BDIPABHK_00054 |
50102 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1446G>A |
Lys482Lys |
M0057771 |
BDIPABHK_00054 |
50204 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1548C>T |
Val516Val |
M0057772 |
BDIPABHK_00054 |
50218 |
20 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1562T>G |
Ile521Ser |
M0057773 |
BDIPABHK_00055 |
50393 |
10 |
Skin |
0.02 |
protein_coding |
start_lost |
HIGH |
1T>G |
Leu1? |
M0057774 |
BDIPABHK_00055 |
50587 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
195G>C |
Met65Ile |
M0057775 |
BDIPABHK_00056 |
51904 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
812T>G |
Leu271Arg |
M0057776 |
BDIPABHK_00056 |
52316 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1224C>A |
Gly408Gly |
M0057777 |
BDIPABHK_00057 |
52509 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-482G>C |
None |
M0057778 |
BDIPABHK_00057 |
53479 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
489T>A |
Ile163Ile |
M0057779 |
BDIPABHK_00057 |
53680 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
690C>T |
Ile230Ile |
M0057780 |
BDIPABHK_00057 |
53681 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
691G>A |
Val231Ile |
M0057781 |
BDIPABHK_00057 |
53686 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
696A>G |
Ala232Ala |
M0057782 |
BDIPABHK_00057 |
53689 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
699A>G |
Leu233Leu |
M0057783 |
BDIPABHK_00044 |
37654 |
37 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
52A>G |
Thr18Ala |
M0057784 |
BDIPABHK_00045 |
38819 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
699G>A |
Val233Val |
M0057785 |
BDIPABHK_00046 |
40464 |
59 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
645G>A |
Leu215Leu |
M0057786 |
BDIPABHK_00049 |
41452 |
21 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-71T>C |
None |
M0057787 |
BDIPABHK_00051 |
44239 |
17 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
901G>A |
Val301Ile |
M0057788 |
BDIPABHK_00052 |
44472 |
27 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
132T>C |
Cys44Cys |
M0057789 |
BDIPABHK_00052 |
44854 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
514A>G |
Ser172Gly |
M0057790 |
BDIPABHK_00053 |
45392 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
55C>G |
Arg19Gly |
M0057791 |
BDIPABHK_00035 |
37536 |
28 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4128G>A |
None |
M0057792 |
BDIPABHK_00045 |
38436 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
316G>A |
Gly106Arg |
M0057793 |
BDIPABHK_00046 |
40452 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
633G>A |
Gln211Gln |
M0057794 |
BDIPABHK_00061 |
57487 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
573G>A |
Arg191Arg |
M0057795 |
BDIPABHK_00061 |
57514 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
600G>A |
Gly200Gly |
M0057796 |
BDIPABHK_00039 |
35010 |
84 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
360C>T |
Ala120Ala |
M0057797 |
BDIPABHK_00041 |
36225 |
25 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
112A>C |
Arg38Arg |
M0057798 |
BDIPABHK_00041 |
36274 |
28 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
161C>T |
Pro54Leu |
M0057799 |
BDIPABHK_00045 |
39753 |
25 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1633A>G |
Thr545Ala |
M0057800 |
BDIPABHK_00046 |
40386 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
567C>T |
Gly189Gly |
M0057801 |
BDIPABHK_00053 |
45802 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
465G>C |
Glu155Asp |
M0057802 |
BDIPABHK_00053 |
46063 |
19 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
726A>G |
Pro242Pro |
M0057803 |
BDIPABHK_00042 |
36807 |
35 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
209G>T |
Gly70Val |
M0057804 |
BDIPABHK_00042 |
36809 |
35 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
211A>G |
Ile71Val |
M0057805 |
BDIPABHK_00058 |
54237 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
30C>T |
Ser10Ser |
M0057806 |
BDIPABHK_00059 |
54925 |
21 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-507G>T |
None |
M0057807 |
BDIPABHK_00061 |
57039 |
37 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
125G>A |
Gly42Glu |
M0057808 |
BDIPABHK_00039 |
35179 |
33 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
191C>T |
Thr64Ile |
M0057809 |
BDIPABHK_00039 |
35361 |
29 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
9A>G |
Leu3Leu |
M0057810 |
BDIPABHK_00039 |
35363 |
29 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
7C>T |
Leu3Leu |
M0057811 |
BDIPABHK_00035 |
35381 |
27 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1973C>T |
None |
M0057812 |
BDIPABHK_00035 |
35383 |
27 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1975T>C |
None |
M0057813 |
BDIPABHK_00035 |
35396 |
27 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1988G>A |
None |
M0057814 |
BDIPABHK_00040 |
35603 |
24 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
444C>A |
Ala148Ala |
M0057815 |
BDIPABHK_00040 |
35977 |
28 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
70T>G |
Ser24Ala |
M0057816 |
BDIPABHK_00040 |
35978 |
28 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
69G>A |
Arg23Arg |
M0057817 |
BDIPABHK_00035 |
36090 |
27 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2682G>A |
None |
M0057818 |
BDIPABHK_00035 |
36105 |
45 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2697G>A |
None |
M0057819 |
BDIPABHK_00035 |
36108 |
48 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2700G>A |
None |
M0057820 |
BDIPABHK_00041 |
36123 |
24 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
10A>C |
Ile4Leu |
M0057821 |
BDIPABHK_00041 |
36325 |
26 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
212T>G |
Val71Gly |
M0057822 |
BDIPABHK_00041 |
36327 |
26 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
214T>G |
Ser72Ala |
M0057823 |
BDIPABHK_00041 |
36331 |
28 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
218C>T |
Ala73Val |
M0057824 |
BDIPABHK_00042 |
36804 |
33 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
206C>T |
Pro69Leu |
M0057825 |
BDIPABHK_00043 |
37256 |
31 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
284C>A |
Pro95Gln |
M0057826 |
BDIPABHK_00043 |
37258 |
31 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
286G>A |
Asp96Asn |
M0057827 |
BDIPABHK_00043 |
37390 |
27 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
418G>C |
Glu140Gln |
M0057828 |
BDIPABHK_00053 |
46150 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
813T>C |
Ile271Ile |
M0057829 |
BDIPABHK_00053 |
46367 |
16 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1030A>G |
Thr344Ala |
M0057830 |
BDIPABHK_00053 |
46571 |
19 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1234G>A |
Gly412Ser |
M0057831 |
BDIPABHK_00053 |
46786 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1449C>T |
Ala483Ala |
M0057832 |
BDIPABHK_00053 |
47089 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1752C>T |
Phe584Phe |
M0057833 |
BDIPABHK_00053 |
47119 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1782C>A |
Ala594Ala |
M0057834 |
BDIPABHK_00045 |
38998 |
20 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
878C>A |
Pro293Gln |
M0057835 |
BDIPABHK_00051 |
44178 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
840T>C |
Ile280Ile |
M0057836 |
BDIPABHK_00040 |
40797 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4751G>A |
None |
M0057837 |
BDIPABHK_00040 |
40844 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4798G>A |
None |
M0057838 |
BDIPABHK_00040 |
40887 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4841G>A |
None |
M0057839 |
BDIPABHK_00040 |
40935 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4889G>A |
None |
M0057840 |
BDIPABHK_00040 |
40977 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4931A>C |
None |
M0057841 |
BDIPABHK_00045 |
39654 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1534C>A |
Pro512Thr |
M0057842 |
BDIPABHK_00045 |
39662 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1542G>A |
Ala514Ala |
M0057843 |
BDIPABHK_00045 |
39689 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1569T>C |
Asp523Asp |
M0057844 |
BDIPABHK_00045 |
39707 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1587G>A |
Arg529Arg |
M0057845 |
BDIPABHK_00045 |
39726 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1606T>C |
Leu536Leu |
M0057846 |
BDIPABHK_00045 |
39728 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1608G>A |
Leu536Leu |
M0057847 |
BDIPABHK_00045 |
39731 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1611G>C |
Pro537Pro |
M0057848 |
BDIPABHK_00045 |
39734 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1614C>T |
Gly538Gly |
M0057849 |
BDIPABHK_00045 |
39737 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1617T>C |
Pro539Pro |
M0057850 |
BDIPABHK_00045 |
39738 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1618T>C |
Leu540Leu |
M0057851 |
BDIPABHK_00045 |
39741 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1621G>A |
Glu541Lys |
M0057852 |
BDIPABHK_00045 |
39749 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1629T>C |
Pro543Pro |
M0057853 |
BDIPABHK_00045 |
39764 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1644G>A |
Glu548Glu |
M0057854 |
BDIPABHK_00048 |
41251 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
117G>A |
Ala39Ala |
M0057855 |
BDIPABHK_00049 |
41937 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
415C>T |
Leu139Leu |
M0057856 |
BDIPABHK_00049 |
42050 |
27 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
528A>G |
Gly176Gly |
M0057857 |
BDIPABHK_00049 |
42215 |
26 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
693G>A |
Met231Ile |
M0057858 |
BDIPABHK_00050 |
43223 |
17 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-171A>C |
None |
M0057859 |
BDIPABHK_00050 |
43257 |
18 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-205G>A |
None |
M0057860 |
BDIPABHK_00051 |
43758 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
420T>C |
Pro140Pro |
M0057861 |
BDIPABHK_00051 |
43866 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
528T>C |
Gly176Gly |
M0057862 |
BDIPABHK_00051 |
43894 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
556G>A |
Val186Ile |
M0057863 |
BDIPABHK_00052 |
45121 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
781C>A |
Gln261Lys |
M0057864 |
BDIPABHK_00053 |
46279 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
942G>A |
Thr314Thr |
M0057865 |
BDIPABHK_00053 |
46721 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1384C>A |
Arg462Ser |
M0057866 |
BDIPABHK_00053 |
46889 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1552G>A |
Glu518Lys |
M0057867 |
BDIPABHK_00053 |
47299 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1962T>G |
Thr654Thr |
M0057868 |
BDIPABHK_00051 |
42266 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1073G>A |
None |
M0057869 |
BDIPABHK_00050 |
43069 |
15 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-17A>T |
None |
M0057870 |
BDIPABHK_00050 |
43145 |
16 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-93A>G |
None |
M0057871 |
BDIPABHK_00052 |
44691 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
351T>C |
Ser117Ser |
M0057872 |
BDIPABHK_00045 |
39257 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1137A>G |
Lys379Lys |
M0057873 |
BDIPABHK_00045 |
39794 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1674A>G |
Gln558Gln |
M0057874 |
BDIPABHK_00045 |
39796 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1676T>C |
Val559Ala |
M0057875 |
BDIPABHK_00046 |
39834 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
15C>T |
Asp5Asp |
M0057876 |
BDIPABHK_00046 |
39837 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
18T>C |
Asn6Asn |
M0057877 |
BDIPABHK_00033 |
32241 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
192G>C |
Lys64Asn |
M0057878 |
BDIPABHK_00045 |
39700 |
17 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1580A>G |
Asp527Gly |
M0057879 |
BDIPABHK_00049 |
41450 |
14 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-73A>G |
None |
M0057880 |
BDIPABHK_00049 |
42169 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
647G>A |
Ser216Asn |
M0057881 |
BDIPABHK_00051 |
42251 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1088C>T |
None |
M0057882 |
BDIPABHK_00040 |
35659 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
388T>C |
Ser130Pro |
M0057883 |
BDIPABHK_00038 |
34764 |
5 |
Skin |
0.01 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
306A>G |
Ter102Trpext*? |
M0057884 |
BDIPABHK_00053 |
47270 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1933C>A |
Arg645Ser |
M0057885 |
BDIPABHK_00053 |
47381 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2044T>C |
Leu682Leu |
M0057886 |
BDIPABHK_00053 |
47399 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2062C>T |
Pro688Ser |
M0057887 |
BDIPABHK_00053 |
47573 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2236G>A |
Glu746Lys |
M0057888 |
BDIPABHK_00053 |
47747 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2410A>G |
Lys804Glu |
M0057889 |
BDIPABHK_00053 |
47773 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2436A>G |
Glu812Glu |
M0057890 |
BDIPABHK_00053 |
47802 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2465T>C |
Val822Ala |
M0057891 |
BDIPABHK_00053 |
47804 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2467T>C |
Leu823Leu |
M0057892 |
BDIPABHK_00053 |
47806 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2469A>G |
Leu823Leu |
M0057893 |
BDIPABHK_00053 |
47834 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2497A>G |
Lys833Glu |
M0057894 |
BDIPABHK_00053 |
47858 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2521A>G |
Lys841Glu |
M0057895 |
BDIPABHK_00053 |
47922 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2585A>G |
Asn862Ser |
M0057896 |
BDIPABHK_00053 |
48129 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
2792T>A |
Ile931Asn |
M0057897 |
BDIPABHK_00053 |
48176 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2839A>T |
Ile947Leu |
M0057898 |
BDIPABHK_00053 |
48325 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2988G>T |
Val996Val |
M0057899 |
BDIPABHK_00054 |
48650 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-7G>A |
None |
M0057900 |
BDIPABHK_00054 |
48807 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
151G>A |
Glu51Lys |
M0057901 |
BDIPABHK_00054 |
49004 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
348A>G |
Ala116Ala |
M0057902 |
BDIPABHK_00054 |
49054 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
398A>G |
Asp133Gly |
M0057903 |
BDIPABHK_00054 |
49376 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
720C>T |
Asp240Asp |
M0057904 |
BDIPABHK_00054 |
49658 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1002A>G |
Gly334Gly |
M0057905 |
BDIPABHK_00054 |
49848 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1192C>T |
His398Tyr |
M0057906 |
BDIPABHK_00054 |
49922 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1266C>T |
Val422Val |
M0057907 |
BDIPABHK_00054 |
49976 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1320G>A |
Glu440Glu |
M0057908 |
BDIPABHK_00054 |
50109 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1453G>A |
Ala485Thr |
M0057909 |
BDIPABHK_00054 |
50387 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1731T>C |
Arg577Arg |
M0057910 |
BDIPABHK_00059 |
55386 |
14 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-46A>G |
None |
M0057911 |
BDIPABHK_00059 |
55387 |
23 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-45C>G |
None |
M0057912 |
BDIPABHK_00059 |
55390 |
14 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-42G>A |
None |
M0057913 |
BDIPABHK_00059 |
55394 |
25 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-38T>C |
None |
M0057914 |
BDIPABHK_00059 |
55401 |
25 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-31T>C |
None |
M0057915 |
BDIPABHK_00059 |
55402 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-30C>T |
None |
M0057916 |
BDIPABHK_00059 |
55432 |
22 |
Skin |
0.05 |
protein_coding |
start_lost |
HIGH |
1A>G |
Met1? |
M0057917 |
BDIPABHK_00059 |
55438 |
23 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
7T>C |
Phe3Leu |
M0057918 |
BDIPABHK_00059 |
55751 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
320C>T |
Pro107Leu |
M0057919 |
BDIPABHK_00059 |
55752 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
321A>T |
Pro107Pro |
M0057920 |
BDIPABHK_00059 |
55762 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
331C>T |
Pro111Ser |
M0057921 |
BDIPABHK_00059 |
55763 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
332C>T |
Pro111Leu |
M0057922 |
BDIPABHK_00059 |
55765 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
334C>A |
Leu112Ile |
M0057923 |
BDIPABHK_00059 |
55800 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
369C>T |
Leu123Leu |
M0057924 |
BDIPABHK_00060 |
55837 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
24T>C |
Arg8Arg |
M0057925 |
BDIPABHK_00060 |
55900 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
87T>C |
Gly29Gly |
M0057926 |
BDIPABHK_00060 |
55915 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
102A>T |
Ser34Ser |
M0057927 |
BDIPABHK_00060 |
55921 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Ile36Ile |
M0057928 |
BDIPABHK_00060 |
55925 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
112G>T |
Val38Phe |
M0057929 |
BDIPABHK_00060 |
55930 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
117C>T |
Gly39Gly |
M0057930 |
BDIPABHK_00060 |
55934 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
121G>A |
Val41Ile |
M0057931 |
BDIPABHK_00060 |
55986 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
173G>A |
Gly58Asp |
M0057932 |
BDIPABHK_00060 |
55996 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
183C>T |
Ser61Ser |
M0057933 |
BDIPABHK_00060 |
56014 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
201C>T |
Ile67Ile |
M0057934 |
BDIPABHK_00060 |
56073 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
260C>T |
Thr87Ile |
M0057935 |
BDIPABHK_00060 |
56091 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
278G>A |
Arg93Lys |
M0057936 |
BDIPABHK_00060 |
56092 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
279A>G |
Arg93Arg |
M0057937 |
BDIPABHK_00060 |
56113 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
300C>T |
Phe100Phe |
M0057938 |
BDIPABHK_00060 |
56116 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
303C>T |
Tyr101Tyr |
M0057939 |
BDIPABHK_00060 |
56119 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
306A>G |
Val102Val |
M0057940 |
BDIPABHK_00060 |
56125 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Ser104Ser |
M0057941 |
BDIPABHK_00060 |
56128 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
315A>G |
Glu105Glu |
M0057942 |
BDIPABHK_00060 |
56134 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
321T>C |
Cys107Cys |
M0057943 |
BDIPABHK_00060 |
56164 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
351C>T |
Leu117Leu |
M0057944 |
BDIPABHK_00060 |
56236 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
423G>A |
Glu141Glu |
M0057945 |
BDIPABHK_00060 |
56284 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
471C>T |
Ser157Ser |
M0057946 |
BDIPABHK_00060 |
56302 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
489T>C |
Asp163Asp |
M0057947 |
BDIPABHK_00060 |
56323 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
510A>G |
Arg170Arg |
M0057948 |
BDIPABHK_00060 |
56332 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
519A>G |
Arg173Arg |
M0057949 |
BDIPABHK_00060 |
56343 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
530G>A |
Ser177Asn |
M0057950 |
BDIPABHK_00060 |
56360 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
547A>C |
Lys183Gln |
M0057951 |
BDIPABHK_00060 |
56368 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
555C>A |
Ile185Ile |
M0057952 |
BDIPABHK_00060 |
56380 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
567T>C |
Tyr189Tyr |
M0057953 |
BDIPABHK_00060 |
56383 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
570T>C |
Asn190Asn |
M0057954 |
BDIPABHK_00060 |
56388 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
575A>G |
Glu192Gly |
M0057955 |
BDIPABHK_00060 |
56390 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
577G>C |
Gly193Arg |
M0057956 |
BDIPABHK_00060 |
56401 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
588C>T |
Pro196Pro |
M0057957 |
BDIPABHK_00060 |
56405 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
592G>T |
Ala198Ser |
M0057958 |
BDIPABHK_00060 |
56445 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
632C>T |
Thr211Met |
M0057959 |
BDIPABHK_00060 |
56515 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
702A>G |
Ala234Ala |
M0057960 |
BDIPABHK_00060 |
56518 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
705A>G |
Gln235Gln |
M0057961 |
BDIPABHK_00060 |
56554 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
741G>A |
Glu247Glu |
M0057962 |
BDIPABHK_00060 |
56582 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
769A>G |
Thr257Ala |
M0057963 |
BDIPABHK_00040 |
35612 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
435G>A |
Arg145Arg |
M0057964 |
BDIPABHK_00042 |
36673 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
75C>T |
Asp25Asp |
M0057965 |
BDIPABHK_00050 |
43267 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-215T>C |
None |
M0057966 |
BDIPABHK_00054 |
49532 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
876A>G |
Thr292Thr |
M0057967 |
BDIPABHK_00054 |
49720 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1064C>T |
Pro355Leu |
M0057968 |
BDIPABHK_00055 |
50672 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
280T>C |
Leu94Leu |
M0057969 |
BDIPABHK_00055 |
50674 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
282G>A |
Leu94Leu |
M0057970 |
BDIPABHK_00055 |
50675 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
283T>G |
Ser95Ala |
M0057971 |
BDIPABHK_00055 |
50690 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
298A>C |
Asn100His |
M0057972 |
BDIPABHK_00056 |
51986 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
894A>G |
Thr298Thr |
M0057973 |
BDIPABHK_00055 |
50623 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
231A>T |
Glu77Asp |
M0057974 |
BDIPABHK_00056 |
51729 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
637C>T |
Leu213Phe |
M0057975 |
BDIPABHK_00056 |
51779 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
687A>G |
Ser229Ser |
M0057976 |
BDIPABHK_00059 |
55092 |
17 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-340T>C |
None |
M0057977 |
BDIPABHK_00061 |
57155 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
241G>A |
Ala81Thr |
M0057978 |
BDIPABHK_00041 |
36145 |
19 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
32A>G |
Asp11Gly |
M0057979 |
BDIPABHK_00048 |
41205 |
16 |
Skin |
0.04 |
protein_coding |
stop_gained |
HIGH |
71C>G |
Ser24* |
M0057980 |
BDIPABHK_00051 |
44107 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
769G>A |
Val257Ile |
M0057981 |
BDIPABHK_00046 |
39843 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
24T>C |
Ala8Ala |
M0057982 |
BDIPABHK_00046 |
39846 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
27G>A |
Gln9Gln |
M0057983 |
BDIPABHK_00046 |
39850 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
31C>T |
Leu11Leu |
M0057984 |
BDIPABHK_00049 |
41827 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
305C>T |
Ser102Phe |
M0057985 |
BDIPABHK_00046 |
40283 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
464A>G |
Asn155Ser |
M0057986 |
BDIPABHK_00057 |
54112 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1122A>G |
Ile374Met |
M0057987 |
BDIPABHK_00059 |
55191 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-241A>G |
None |
M0057988 |
BDIPABHK_00059 |
55361 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-71C>T |
None |
M0057989 |
BDIPABHK_00060 |
55989 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
176C>T |
Thr59Met |
M0057990 |
BDIPABHK_00060 |
56041 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
228C>T |
Gly76Gly |
M0057991 |
BDIPABHK_00060 |
56389 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
576A>G |
Glu192Glu |
M0057992 |
BDIPABHK_00061 |
56630 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-285A>G |
None |
M0057993 |
BDIPABHK_00061 |
56636 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-279T>C |
None |
M0057994 |
BDIPABHK_00061 |
56644 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-271C>T |
None |
M0057995 |
BDIPABHK_00061 |
56658 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-257G>T |
None |
M0057996 |
BDIPABHK_00061 |
56659 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-256A>G |
None |
M0057997 |
BDIPABHK_00039 |
35264 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
106A>G |
Thr36Ala |
M0057998 |
BDIPABHK_00045 |
39617 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1497T>C |
Ala499Ala |
M0057999 |
BDIPABHK_00045 |
39521 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1401A>G |
Val467Val |
M0058000 |
BDIPABHK_00045 |
39536 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1416A>C |
Thr472Thr |
M0058001 |
BDIPABHK_00045 |
39539 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1419C>G |
Pro473Pro |
M0058002 |
BDIPABHK_00045 |
39542 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1422C>A |
Ile474Ile |
M0058003 |
BDIPABHK_00045 |
39587 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1467A>T |
Ala489Ala |
M0058004 |
BDIPABHK_00045 |
39590 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1470A>G |
Leu490Leu |
M0058005 |
BDIPABHK_00045 |
39591 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1471C>A |
Arg491Ser |
M0058006 |
BDIPABHK_00045 |
39593 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1473C>A |
Arg491Arg |
M0058007 |
BDIPABHK_00045 |
39606 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1486A>T |
Thr496Ser |
M0058008 |
BDIPABHK_00045 |
39643 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1523G>C |
Ser508Thr |
M0058009 |
BDIPABHK_00045 |
39646 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1526A>G |
Asn509Ser |
M0058010 |
BDIPABHK_00045 |
39674 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1554C>T |
Ala518Ala |
M0058011 |
BDIPABHK_00045 |
39677 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1557G>A |
Gln519Gln |
M0058012 |
BDIPABHK_00046 |
39853 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
34G>T |
Val12Leu |
M0058013 |
BDIPABHK_00049 |
41901 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
379C>A |
Gln127Lys |
M0058014 |
BDIPABHK_00040 |
35914 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
133G>A |
Gly45Arg |
M0058015 |
BDIPABHK_00055 |
50554 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
162T>A |
Gly54Gly |
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 |
BDIPABHK_00008 |
BCY26536.1|CBM50 |
100 |
0 |
1 |
1026 |
1 |
1 |
BDIPABHK_00026 |
ALT45754.1|GH184 |
81.1 |
8.22e-197 |
1 |
353 |
0.9972 |
0.9972 |
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 |