Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2815 |
Reference Plasmid |
DP1806001471_bin.2__NODE_55_length_12027_cov_6.698524 |
Reference Plasmid Size |
12027 |
Reference Plasmid GC Content |
0.61 |
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 |
M0061624 |
PCEHIHHK_00005 |
6382 |
70 |
Skin |
0.61 |
protein_coding |
missense_variant |
MODERATE |
1371C>G |
Asp457Glu |
M0061625 |
PCEHIHHK_00005 |
6634 |
21 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1623T>C |
Thr541Thr |
M0061626 |
PCEHIHHK_00005 |
7520 |
23 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
2509G>A |
Val837Ile |
M0061627 |
PCEHIHHK_00007 |
9078 |
20 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
594C>T |
Asp198Asp |
M0061628 |
PCEHIHHK_00007 |
9090 |
20 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
582G>T |
Pro194Pro |
M0061629 |
PCEHIHHK_00009 |
10793 |
13 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
114A>G |
Glu38Glu |
M0061630 |
PCEHIHHK_00009 |
10805 |
15 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
126G>A |
Lys42Lys |
M0061631 |
PCEHIHHK_00009 |
10820 |
15 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
141A>G |
Pro47Pro |
M0061632 |
PCEHIHHK_00001 |
536 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
444A>G |
Gln148Gln |
M0061633 |
PCEHIHHK_00001 |
548 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
456T>C |
Pro152Pro |
M0061634 |
PCEHIHHK_00001 |
572 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
480A>G |
Leu160Leu |
M0061635 |
PCEHIHHK_00001 |
840 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
748C>T |
Leu250Leu |
M0061636 |
PCEHIHHK_00001 |
893 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
801C>T |
Ile267Ile |
M0061637 |
PCEHIHHK_00001 |
1115 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1023C>T |
Asp341Asp |
M0061638 |
PCEHIHHK_00001 |
1133 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1041T>C |
Ser347Ser |
M0061639 |
PCEHIHHK_00001 |
1163 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1071C>T |
Arg357Arg |
M0061640 |
PCEHIHHK_00001 |
1178 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1086G>C |
Gly362Gly |
M0061641 |
PCEHIHHK_00001 |
1217 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1125G>A |
Glu375Glu |
M0061642 |
PCEHIHHK_00001 |
1220 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1128A>G |
Val376Val |
M0061643 |
PCEHIHHK_00001 |
1260 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1168A>C |
Asn390His |
M0061644 |
PCEHIHHK_00001 |
1262 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1170T>G |
Asn390Lys |
M0061645 |
PCEHIHHK_00001 |
1295 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1203T>C |
Leu401Leu |
M0061646 |
PCEHIHHK_00001 |
1308 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1216G>T |
Ala406Ser |
M0061647 |
PCEHIHHK_00001 |
1347 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1255G>A |
Ala419Thr |
M0061648 |
PCEHIHHK_00001 |
1348 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1256C>T |
Ala419Val |
M0061649 |
PCEHIHHK_00001 |
1362 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1270A>G |
Thr424Ala |
M0061650 |
PCEHIHHK_00001 |
1370 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1278A>G |
Gln426Gln |
M0061651 |
PCEHIHHK_00001 |
1400 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1308T>C |
Ile436Ile |
M0061652 |
PCEHIHHK_00001 |
1440 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1348T>C |
Ser450Pro |
M0061653 |
PCEHIHHK_00001 |
1457 |
33 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
1365A>C |
Lys455Asn |
M0061654 |
PCEHIHHK_00002 |
1500 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1391A>G |
His464Arg |
M0061655 |
PCEHIHHK_00002 |
1538 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1353A>G |
Gly451Gly |
M0061656 |
PCEHIHHK_00002 |
1568 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1323G>C |
Gly441Gly |
M0061657 |
PCEHIHHK_00002 |
1583 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1308A>G |
Gln436Gln |
M0061658 |
PCEHIHHK_00002 |
1592 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1299A>T |
Val433Val |
M0061659 |
PCEHIHHK_00002 |
1613 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1278G>A |
Leu426Leu |
M0061660 |
PCEHIHHK_00002 |
1690 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1201C>A |
Pro401Thr |
M0061661 |
PCEHIHHK_00002 |
1727 |
9 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1164C>G |
His388Gln |
M0061662 |
PCEHIHHK_00002 |
1865 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1026T>C |
Val342Val |
M0061663 |
PCEHIHHK_00002 |
2000 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
891G>C |
Leu297Phe |
M0061664 |
PCEHIHHK_00002 |
2010 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
881T>C |
Val294Ala |
M0061665 |
PCEHIHHK_00002 |
2087 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
804T>A |
Pro268Pro |
M0061666 |
PCEHIHHK_00002 |
2117 |
10 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
774T>C |
Gly258Gly |
M0061667 |
PCEHIHHK_00002 |
2237 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
654C>T |
Ala218Ala |
M0061668 |
PCEHIHHK_00002 |
2240 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
651C>T |
Val217Val |
M0061669 |
PCEHIHHK_00002 |
2365 |
10 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
526A>G |
Thr176Ala |
M0061670 |
PCEHIHHK_00002 |
2495 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Ala132Ala |
M0061671 |
PCEHIHHK_00002 |
2558 |
10 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
333C>T |
Val111Val |
M0061672 |
PCEHIHHK_00002 |
2606 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Gly95Gly |
M0061673 |
PCEHIHHK_00002 |
2666 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
225G>A |
Glu75Glu |
M0061674 |
PCEHIHHK_00002 |
2717 |
12 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
174G>A |
Ala58Ala |
M0061675 |
PCEHIHHK_00002 |
2819 |
10 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
72T>C |
Gly24Gly |
M0061676 |
PCEHIHHK_00002 |
2828 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
63C>T |
Arg21Arg |
M0061677 |
PCEHIHHK_00002 |
2855 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
36C>T |
Ser12Ser |
M0061678 |
PCEHIHHK_00002 |
2862 |
9 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
29C>A |
Ala10Glu |
M0061679 |
PCEHIHHK_00002 |
2909 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-19A>G |
None |
M0061680 |
PCEHIHHK_00002 |
2941 |
10 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-51G>A |
None |
M0061681 |
PCEHIHHK_00002 |
2946 |
10 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-56C>T |
None |
M0061682 |
PCEHIHHK_00002 |
2982 |
12 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-92C>T |
None |
M0061683 |
PCEHIHHK_00002 |
3034 |
11 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-144G>A |
None |
M0061684 |
PCEHIHHK_00002 |
3148 |
14 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-258T>C |
None |
M0061685 |
PCEHIHHK_00002 |
3180 |
15 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-290T>C |
None |
M0061686 |
PCEHIHHK_00003 |
3242 |
40 |
Skin |
0.35 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
256T>C |
Ter86Argext*? |
M0061687 |
PCEHIHHK_00003 |
3273 |
13 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
225A>G |
Arg75Arg |
M0061688 |
PCEHIHHK_00003 |
3321 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
177C>T |
Asp59Asp |
M0061689 |
PCEHIHHK_00003 |
3330 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
168C>T |
Asp56Asp |
M0061690 |
PCEHIHHK_00003 |
3351 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
147T>C |
Leu49Leu |
M0061691 |
PCEHIHHK_00003 |
3438 |
9 |
Skin |
0.08 |
protein_coding |
stop_gained |
HIGH |
60G>A |
Trp20* |
M0061692 |
PCEHIHHK_00002 |
3578 |
8 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-688T>C |
None |
M0061693 |
PCEHIHHK_00002 |
3599 |
8 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-709G>A |
None |
M0061694 |
PCEHIHHK_00002 |
3616 |
8 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-726T>G |
None |
M0061695 |
PCEHIHHK_00002 |
3770 |
13 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-880G>A |
None |
M0061696 |
PCEHIHHK_00002 |
3802 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-912C>T |
None |
M0061697 |
PCEHIHHK_00004 |
3947 |
14 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
117A>G |
Val39Val |
M0061698 |
PCEHIHHK_00004 |
4153 |
18 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
323A>G |
Gln108Arg |
M0061699 |
PCEHIHHK_00004 |
4156 |
15 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
326G>A |
Arg109His |
M0061700 |
PCEHIHHK_00004 |
4206 |
20 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
376G>A |
Ala126Thr |
M0061701 |
PCEHIHHK_00004 |
4216 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
386A>C |
Asn129Thr |
M0061702 |
PCEHIHHK_00004 |
4480 |
16 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
650G>A |
Arg217His |
M0061703 |
PCEHIHHK_00004 |
4586 |
13 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
756G>A |
Thr252Thr |
M0061704 |
PCEHIHHK_00004 |
4593 |
10 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
763G>A |
Val255Ile |
M0061705 |
PCEHIHHK_00004 |
4742 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
912G>A |
Lys304Lys |
M0061706 |
PCEHIHHK_00004 |
4757 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
927G>A |
Glu309Glu |
M0061707 |
PCEHIHHK_00004 |
4799 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
969G>A |
Pro323Pro |
M0061708 |
PCEHIHHK_00004 |
4807 |
13 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
977C>A |
Thr326Asn |
M0061709 |
PCEHIHHK_00005 |
5199 |
14 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
188T>C |
Ile63Thr |
M0061710 |
PCEHIHHK_00005 |
5482 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
471T>C |
Ala157Ala |
M0061711 |
PCEHIHHK_00005 |
5640 |
12 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
629A>G |
Asn210Ser |
M0061712 |
PCEHIHHK_00005 |
5650 |
12 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
639A>G |
Lys213Lys |
M0061713 |
PCEHIHHK_00005 |
5713 |
16 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
702A>G |
Gln234Gln |
M0061714 |
PCEHIHHK_00005 |
5731 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
720C>T |
Thr240Thr |
M0061715 |
PCEHIHHK_00005 |
5750 |
17 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
739A>T |
Thr247Ser |
M0061716 |
PCEHIHHK_00005 |
5816 |
16 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
805A>G |
Thr269Ala |
M0061717 |
PCEHIHHK_00005 |
5818 |
10 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
807C>T |
Thr269Thr |
M0061718 |
PCEHIHHK_00004 |
4951 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1121G>A |
Arg374His |
M0061719 |
PCEHIHHK_00004 |
4680 |
12 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
850A>G |
Asn284Asp |
M0061720 |
PCEHIHHK_00005 |
6212 |
18 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1201G>A |
Glu401Lys |
M0061721 |
PCEHIHHK_00005 |
6269 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1258T>C |
Leu420Leu |
M0061722 |
PCEHIHHK_00005 |
6301 |
19 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1290G>A |
Ser430Ser |
M0061723 |
PCEHIHHK_00005 |
6341 |
17 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1330A>G |
Thr444Ala |
M0061724 |
PCEHIHHK_00005 |
6349 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1338T>C |
Asn446Asn |
M0061725 |
PCEHIHHK_00005 |
6362 |
17 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1351C>G |
His451Asp |
M0061726 |
PCEHIHHK_00005 |
6366 |
18 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1355G>A |
Gly452Asp |
M0061727 |
PCEHIHHK_00005 |
6400 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1389A>G |
Arg463Arg |
M0061728 |
PCEHIHHK_00005 |
6406 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1395A>G |
Arg465Arg |
M0061729 |
PCEHIHHK_00005 |
6418 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1407T>C |
Thr469Thr |
M0061730 |
PCEHIHHK_00005 |
6439 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1428G>A |
Gly476Gly |
M0061731 |
PCEHIHHK_00005 |
6450 |
17 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1439A>T |
Glu480Val |
M0061732 |
PCEHIHHK_00005 |
6464 |
17 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1453A>G |
Thr485Ala |
M0061733 |
PCEHIHHK_00005 |
6465 |
11 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1454C>A |
Thr485Asn |
M0061734 |
PCEHIHHK_00005 |
6469 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1458G>A |
Val486Val |
M0061735 |
PCEHIHHK_00005 |
6482 |
11 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1471G>A |
Glu491Lys |
M0061736 |
PCEHIHHK_00005 |
6488 |
13 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1477T>C |
Leu493Leu |
M0061737 |
PCEHIHHK_00005 |
6497 |
17 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1486G>A |
Ala496Thr |
M0061738 |
PCEHIHHK_00005 |
6537 |
14 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1526G>A |
Arg509Lys |
M0061739 |
PCEHIHHK_00005 |
6583 |
13 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1572A>G |
Glu524Glu |
M0061740 |
PCEHIHHK_00005 |
6593 |
13 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1582G>A |
Glu528Lys |
M0061741 |
PCEHIHHK_00005 |
6618 |
12 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1607C>T |
Ala536Val |
M0061742 |
PCEHIHHK_00005 |
6650 |
18 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1639A>G |
Ile547Val |
M0061743 |
PCEHIHHK_00005 |
6682 |
12 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1671A>G |
Glu557Glu |
M0061744 |
PCEHIHHK_00005 |
6740 |
13 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1729T>C |
Leu577Leu |
M0061745 |
PCEHIHHK_00005 |
6764 |
12 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1753G>A |
Val585Ile |
M0061746 |
PCEHIHHK_00005 |
6835 |
14 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1824T>C |
Leu608Leu |
M0061747 |
PCEHIHHK_00005 |
6868 |
13 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1857C>T |
Thr619Thr |
M0061748 |
PCEHIHHK_00005 |
6875 |
13 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1864G>A |
Glu622Lys |
M0061749 |
PCEHIHHK_00005 |
6877 |
14 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1866G>A |
Glu622Glu |
M0061750 |
PCEHIHHK_00005 |
6899 |
13 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1888A>G |
Thr630Ala |
M0061751 |
PCEHIHHK_00005 |
6949 |
16 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1938G>C |
Gln646His |
M0061752 |
PCEHIHHK_00005 |
6989 |
9 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1978G>A |
Glu660Lys |
M0061753 |
PCEHIHHK_00005 |
7003 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1992A>G |
Thr664Thr |
M0061754 |
PCEHIHHK_00005 |
7005 |
17 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1994G>A |
Arg665Gln |
M0061755 |
PCEHIHHK_00005 |
7026 |
23 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
2015G>C |
Arg672Thr |
M0061756 |
PCEHIHHK_00005 |
7041 |
17 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
2030A>G |
Asn677Ser |
M0061757 |
PCEHIHHK_00005 |
7084 |
14 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
2073G>A |
Gly691Gly |
M0061758 |
PCEHIHHK_00005 |
7126 |
15 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2115C>T |
Thr705Thr |
M0061759 |
PCEHIHHK_00005 |
7208 |
27 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
2197G>T |
Ala733Ser |
M0061760 |
PCEHIHHK_00005 |
7209 |
19 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
2198C>T |
Ala733Val |
M0061761 |
PCEHIHHK_00005 |
7222 |
19 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
2211A>C |
Glu737Asp |
M0061762 |
PCEHIHHK_00005 |
7288 |
28 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
2277C>T |
Phe759Phe |
M0061763 |
PCEHIHHK_00005 |
7297 |
28 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
2286G>T |
Glu762Asp |
M0061764 |
PCEHIHHK_00005 |
7330 |
29 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
2319C>T |
Val773Val |
M0061765 |
PCEHIHHK_00005 |
7342 |
29 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
2331G>A |
Gln777Gln |
M0061766 |
PCEHIHHK_00005 |
7345 |
29 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
2334T>C |
Leu778Leu |
M0061767 |
PCEHIHHK_00005 |
7357 |
20 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2346G>A |
Arg782Arg |
M0061768 |
PCEHIHHK_00005 |
7435 |
19 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2424T>C |
Ile808Ile |
M0061769 |
PCEHIHHK_00005 |
7450 |
19 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2439A>G |
Gly813Gly |
M0061770 |
PCEHIHHK_00005 |
7459 |
19 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2448G>A |
Val816Val |
M0061771 |
PCEHIHHK_00005 |
7471 |
19 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2460C>T |
Asp820Asp |
M0061772 |
PCEHIHHK_00005 |
7474 |
19 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2463C>T |
Ala821Ala |
M0061773 |
PCEHIHHK_00005 |
7492 |
19 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2481T>C |
Pro827Pro |
M0061774 |
PCEHIHHK_00005 |
7516 |
19 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2505C>T |
Ala835Ala |
M0061775 |
PCEHIHHK_00005 |
7529 |
19 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
2518A>G |
Ser840Gly |
M0061776 |
PCEHIHHK_00005 |
7534 |
19 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2523T>C |
Ala841Ala |
M0061777 |
PCEHIHHK_00005 |
7556 |
17 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
2545T>C |
Phe849Leu |
M0061778 |
PCEHIHHK_00002 |
7621 |
23 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4731A>G |
None |
M0061779 |
PCEHIHHK_00002 |
7623 |
15 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4733C>T |
None |
M0061780 |
PCEHIHHK_00002 |
7626 |
26 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4736T>C |
None |
M0061781 |
PCEHIHHK_00002 |
7631 |
15 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4741G>A |
None |
M0061782 |
PCEHIHHK_00002 |
7637 |
15 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4747T>C |
None |
M0061783 |
PCEHIHHK_00002 |
7641 |
15 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4751G>A |
None |
M0061784 |
PCEHIHHK_00002 |
7650 |
16 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4760T>G |
None |
M0061785 |
PCEHIHHK_00002 |
7652 |
16 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4762G>T |
None |
M0061786 |
PCEHIHHK_00002 |
7658 |
16 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4768A>G |
None |
M0061787 |
PCEHIHHK_00006 |
7725 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1300C>T |
Leu434Leu |
M0061788 |
PCEHIHHK_00006 |
7882 |
18 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1143C>T |
Gly381Gly |
M0061789 |
PCEHIHHK_00006 |
8020 |
21 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1005T>C |
Phe335Phe |
M0061790 |
PCEHIHHK_00006 |
8127 |
20 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
898G>T |
Ala300Ser |
M0061791 |
PCEHIHHK_00006 |
8299 |
21 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
726C>T |
Ile242Ile |
M0061792 |
PCEHIHHK_00006 |
8428 |
18 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
597A>G |
Ile199Met |
M0061793 |
PCEHIHHK_00006 |
8701 |
23 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
324A>G |
Leu108Leu |
M0061794 |
PCEHIHHK_00006 |
9012 |
18 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
13A>G |
Ser5Gly |
M0061795 |
PCEHIHHK_00007 |
9189 |
19 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
483C>T |
Asp161Asp |
M0061796 |
PCEHIHHK_00007 |
9226 |
21 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
446A>G |
Gln149Arg |
M0061797 |
PCEHIHHK_00007 |
9300 |
18 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
372C>T |
Arg124Arg |
M0061798 |
PCEHIHHK_00007 |
9386 |
15 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
286G>A |
Val96Met |
M0061799 |
PCEHIHHK_00007 |
9444 |
16 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
228G>A |
Gln76Gln |
M0061800 |
PCEHIHHK_00006 |
9702 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-678A>G |
None |
M0061801 |
PCEHIHHK_00006 |
9704 |
16 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-680A>G |
None |
M0061802 |
PCEHIHHK_00006 |
9736 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-712T>G |
None |
M0061803 |
PCEHIHHK_00006 |
9770 |
15 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-746G>A |
None |
M0061804 |
PCEHIHHK_00008 |
9918 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Val37Val |
M0061805 |
PCEHIHHK_00008 |
10410 |
14 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
603G>A |
Ala201Ala |
M0061806 |
PCEHIHHK_00008 |
10420 |
16 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
613G>A |
Gly205Arg |
M0061807 |
PCEHIHHK_00008 |
10489 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
682G>A |
Ala228Thr |
M0061808 |
PCEHIHHK_00008 |
10640 |
17 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
833T>C |
Met278Thr |
M0061809 |
PCEHIHHK_00009 |
10928 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
249C>T |
Ala83Ala |
M0061810 |
PCEHIHHK_00009 |
11006 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
327T>G |
Ser109Ser |
M0061811 |
PCEHIHHK_00009 |
11009 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
330C>T |
Pro110Pro |
M0061812 |
PCEHIHHK_00009 |
11114 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
435A>G |
Ser145Ser |
M0061813 |
PCEHIHHK_00009 |
11117 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
438A>G |
Pro146Pro |
M0061814 |
PCEHIHHK_00006 |
11174 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2150T>C |
None |
M0061815 |
PCEHIHHK_00010 |
11211 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
369G>T |
Pro123Pro |
M0061816 |
PCEHIHHK_00010 |
11214 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
366A>C |
Leu122Leu |
M0061817 |
PCEHIHHK_00010 |
11226 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
354G>C |
Gly118Gly |
M0061818 |
PCEHIHHK_00010 |
11281 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
299G>A |
Ser100Asn |
M0061819 |
PCEHIHHK_00010 |
11307 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
273T>C |
Val91Val |
M0061820 |
PCEHIHHK_00010 |
11346 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Val78Val |
M0061821 |
PCEHIHHK_00010 |
11353 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
227C>T |
Ser76Leu |
M0061822 |
PCEHIHHK_00010 |
11361 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
219T>C |
Gly73Gly |
M0061823 |
PCEHIHHK_00010 |
11367 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
213C>T |
Arg71Arg |
M0061824 |
PCEHIHHK_00010 |
11370 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
210G>A |
Lys70Lys |
M0061825 |
PCEHIHHK_00010 |
11379 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
201C>G |
Val67Val |
M0061826 |
PCEHIHHK_00010 |
11403 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
177T>G |
Ala59Ala |
M0061827 |
PCEHIHHK_00006 |
8539 |
21 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
486T>C |
Phe162Phe |
M0061828 |
PCEHIHHK_00006 |
8569 |
22 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
456C>G |
Thr152Thr |
M0061829 |
PCEHIHHK_00006 |
8590 |
21 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
435G>A |
Gly145Gly |
M0061830 |
PCEHIHHK_00006 |
8596 |
22 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
429A>T |
Gly143Gly |
M0061831 |
PCEHIHHK_00006 |
8599 |
22 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
426T>C |
Thr142Thr |
M0061832 |
PCEHIHHK_00006 |
8629 |
22 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
396G>A |
Ala132Ala |
M0061833 |
PCEHIHHK_00006 |
8638 |
21 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
387C>T |
Gly129Gly |
M0061834 |
PCEHIHHK_00006 |
8662 |
21 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
363G>A |
Val121Val |
M0061835 |
PCEHIHHK_00006 |
8505 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
520G>A |
Val174Ile |
M0061836 |
PCEHIHHK_00007 |
9449 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
223G>A |
Asp75Asn |
M0061837 |
PCEHIHHK_00008 |
10214 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
407T>C |
Val136Ala |
M0061838 |
PCEHIHHK_00005 |
5234 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
223G>A |
Val75Ile |
M0061839 |
PCEHIHHK_00002 |
3811 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-921G>A |
None |
M0061840 |
PCEHIHHK_00005 |
5862 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
851A>G |
Lys284Arg |
M0061841 |
PCEHIHHK_00005 |
5865 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
854G>C |
Arg285Thr |
M0061842 |
PCEHIHHK_00005 |
6317 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1306G>A |
Ala436Thr |
M0061843 |
PCEHIHHK_00005 |
6547 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1536G>A |
Glu512Glu |
M0061844 |
PCEHIHHK_00005 |
6659 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1648G>A |
Ala550Thr |
M0061845 |
PCEHIHHK_00005 |
6690 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1679T>C |
Val560Ala |
M0061846 |
PCEHIHHK_00005 |
6700 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1689G>A |
Ala563Ala |
M0061847 |
PCEHIHHK_00005 |
6729 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1718C>T |
Ala573Val |
M0061848 |
PCEHIHHK_00005 |
6840 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1829C>T |
Thr610Ile |
M0061849 |
PCEHIHHK_00005 |
6878 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1867G>A |
Ala623Thr |
M0061850 |
PCEHIHHK_00005 |
6955 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1944G>A |
Ala648Ala |
M0061851 |
PCEHIHHK_00005 |
6961 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1950G>A |
Ala650Ala |
M0061852 |
PCEHIHHK_00005 |
7214 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
2203C>T |
His735Tyr |
M0061853 |
PCEHIHHK_00005 |
7246 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2235A>G |
Ala745Ala |
M0061854 |
PCEHIHHK_00005 |
7309 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2298G>A |
Glu766Glu |
M0061855 |
PCEHIHHK_00002 |
7634 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4744A>G |
None |
M0061856 |
PCEHIHHK_00002 |
7647 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4757C>T |
None |
M0061857 |
PCEHIHHK_00006 |
7714 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1311T>C |
Arg437Arg |
M0061858 |
PCEHIHHK_00006 |
8893 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
132C>T |
Val44Val |
M0061859 |
PCEHIHHK_00007 |
9659 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
13C>T |
His5Tyr |
M0061860 |
PCEHIHHK_00008 |
10522 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
715C>T |
Arg239Trp |
M0061861 |
PCEHIHHK_00002 |
3155 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-265C>T |
None |
M0061862 |
PCEHIHHK_00001 |
1448 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1356A>G |
Lys452Lys |
M0061863 |
PCEHIHHK_00002 |
1509 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1382G>A |
Ser461Asn |
M0061864 |
PCEHIHHK_00002 |
2895 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-5C>T |
None |
M0061865 |
PCEHIHHK_00002 |
3089 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-199C>T |
None |
M0061866 |
PCEHIHHK_00004 |
4622 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
792T>C |
Ser264Ser |
M0061867 |
PCEHIHHK_00001 |
317 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
225A>G |
Pro75Pro |
M0061868 |
PCEHIHHK_00008 |
10252 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
445G>A |
Ala149Thr |
M0061869 |
PCEHIHHK_00002 |
3830 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-940G>A |
None |
M0061870 |
PCEHIHHK_00004 |
3911 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
81A>G |
Pro27Pro |
M0061871 |
PCEHIHHK_00004 |
4064 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
234A>G |
Ile78Met |
M0061872 |
PCEHIHHK_00004 |
4181 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
351A>G |
Leu117Leu |
M0061873 |
PCEHIHHK_00004 |
4198 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
368C>T |
Thr123Ile |
M0061874 |
PCEHIHHK_00004 |
4262 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
432C>T |
Arg144Arg |
M0061875 |
PCEHIHHK_00004 |
4271 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
441A>G |
Ser147Ser |
M0061876 |
PCEHIHHK_00004 |
4274 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
444T>C |
Thr148Thr |
M0061877 |
PCEHIHHK_00004 |
4403 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
573G>C |
Glu191Asp |
M0061878 |
PCEHIHHK_00004 |
4406 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
576C>T |
Asp192Asp |
M0061879 |
PCEHIHHK_00004 |
4418 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
588A>G |
Arg196Arg |
M0061880 |
PCEHIHHK_00004 |
4430 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
600C>T |
Ser200Ser |
M0061881 |
PCEHIHHK_00004 |
4433 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
603C>T |
Tyr201Tyr |
M0061882 |
PCEHIHHK_00004 |
4535 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
705C>T |
Ser235Ser |
M0061883 |
PCEHIHHK_00004 |
4605 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
775C>T |
Leu259Leu |
M0061884 |
PCEHIHHK_00004 |
4721 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
891A>C |
Gly297Gly |
M0061885 |
PCEHIHHK_00004 |
4769 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
939T>C |
Asp313Asp |
M0061886 |
PCEHIHHK_00004 |
4793 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
963C>T |
Leu321Leu |
M0061887 |
PCEHIHHK_00004 |
4839 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1009A>G |
Ile337Val |
M0061888 |
PCEHIHHK_00004 |
4868 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1038T>C |
Gly346Gly |
M0061889 |
PCEHIHHK_00004 |
4915 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1085A>G |
Asn362Ser |
M0061890 |
PCEHIHHK_00004 |
4969 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1139G>A |
Gly380Glu |
M0061891 |
PCEHIHHK_00004 |
4972 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1142C>T |
Ala381Val |
M0061892 |
PCEHIHHK_00004 |
4974 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1144A>G |
Ser382Gly |
M0061893 |
PCEHIHHK_00004 |
4978 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1148T>C |
Ile383Thr |
M0061894 |
PCEHIHHK_00004 |
4983 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1153T>A |
Ser385Thr |
M0061895 |
PCEHIHHK_00004 |
5006 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1176G>A |
Val392Val |
M0061896 |
PCEHIHHK_00005 |
5152 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
141G>C |
Leu47Leu |
M0061897 |
PCEHIHHK_00005 |
5162 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
151A>G |
Ser51Gly |
M0061898 |
PCEHIHHK_00005 |
5182 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
171G>A |
Lys57Lys |
M0061899 |
PCEHIHHK_00005 |
5185 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
174T>C |
Ser58Ser |
M0061900 |
PCEHIHHK_00005 |
5265 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
254G>A |
Arg85His |
M0061901 |
PCEHIHHK_00005 |
5281 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
270G>A |
Lys90Lys |
M0061902 |
PCEHIHHK_00005 |
5293 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
282A>G |
Lys94Lys |
M0061903 |
PCEHIHHK_00005 |
5302 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
291A>G |
Glu97Glu |
M0061904 |
PCEHIHHK_00005 |
5314 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
303G>A |
Lys101Lys |
M0061905 |
PCEHIHHK_00005 |
5350 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
339T>C |
Thr113Thr |
M0061906 |
PCEHIHHK_00005 |
5389 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
378C>T |
Ser126Ser |
M0061907 |
PCEHIHHK_00005 |
5393 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
382A>G |
Thr128Ala |
M0061908 |
PCEHIHHK_00005 |
5446 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
435T>C |
Ser145Ser |
M0061909 |
PCEHIHHK_00005 |
5476 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
465T>C |
Leu155Leu |
M0061910 |
PCEHIHHK_00005 |
5488 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
477A>G |
Leu159Leu |
M0061911 |
PCEHIHHK_00005 |
5557 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
546A>G |
Glu182Glu |
M0061912 |
PCEHIHHK_00005 |
5575 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
564G>A |
Thr188Thr |
M0061913 |
PCEHIHHK_00005 |
5593 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
582T>C |
Arg194Arg |
M0061914 |
PCEHIHHK_00005 |
5596 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
585C>T |
Arg195Arg |
M0061915 |
PCEHIHHK_00005 |
5634 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
623G>A |
Arg208His |
M0061916 |
PCEHIHHK_00005 |
5647 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Ala212Ala |
M0061917 |
PCEHIHHK_00005 |
5662 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
651G>A |
Arg217Arg |
M0061918 |
PCEHIHHK_00005 |
5767 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
756T>C |
Ala252Ala |
M0061919 |
PCEHIHHK_00005 |
5794 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
783A>C |
Glu261Asp |
M0061920 |
PCEHIHHK_00005 |
5803 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
792G>A |
Lys264Lys |
M0061921 |
PCEHIHHK_00005 |
5806 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
795G>A |
Glu265Glu |
M0061922 |
PCEHIHHK_00005 |
5864 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
853A>G |
Arg285Gly |
M0061923 |
PCEHIHHK_00005 |
5875 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
864C>T |
Asp288Asp |
M0061924 |
PCEHIHHK_00004 |
4164 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
334A>C |
Ser112Arg |
M0061925 |
PCEHIHHK_00002 |
2018 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
873C>T |
Ala291Ala |
M0061926 |
PCEHIHHK_00004 |
4646 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
816T>C |
Asp272Asp |
M0061927 |
PCEHIHHK_00004 |
4655 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
825T>C |
Ala275Ala |
M0061928 |
PCEHIHHK_00004 |
4684 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
854G>A |
Arg285His |
M0061929 |
PCEHIHHK_00005 |
5859 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
848C>T |
Ala283Val |
M0061930 |
PCEHIHHK_00002 |
1931 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
960T>C |
Ser320Ser |
M0061931 |
PCEHIHHK_00002 |
1976 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
915T>C |
Ser305Ser |
M0061932 |
PCEHIHHK_00002 |
2192 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
699G>A |
Glu233Glu |
M0061933 |
PCEHIHHK_00002 |
2198 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
693C>T |
Ala231Ala |
M0061934 |
PCEHIHHK_00002 |
2213 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
678C>T |
Ile226Ile |
M0061935 |
PCEHIHHK_00002 |
2222 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
669C>T |
Gly223Gly |
M0061936 |
PCEHIHHK_00002 |
2225 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
666T>C |
Gly222Gly |
M0061937 |
PCEHIHHK_00002 |
2255 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
636A>G |
Thr212Thr |
M0061938 |
PCEHIHHK_00002 |
2880 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
11C>T |
Ala4Val |
M0061939 |
PCEHIHHK_00002 |
2972 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-82T>C |
None |
M0061940 |
PCEHIHHK_00002 |
3045 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-155C>T |
None |
M0061941 |
PCEHIHHK_00003 |
3303 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
195T>G |
Leu65Leu |
M0061942 |
PCEHIHHK_00003 |
3312 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
186T>C |
Val62Val |
M0061943 |
PCEHIHHK_00003 |
3342 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
156G>T |
Leu52Leu |
M0061944 |
PCEHIHHK_00003 |
3405 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
93C>T |
Leu31Leu |
M0061945 |
PCEHIHHK_00003 |
3423 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
75T>C |
Thr25Thr |
M0061946 |
PCEHIHHK_00005 |
5758 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
747C>T |
Cys249Cys |
M0061947 |
PCEHIHHK_00005 |
5770 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
759G>A |
Glu253Glu |
M0061948 |
PCEHIHHK_00005 |
5926 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
915A>G |
Glu305Glu |
M0061949 |
PCEHIHHK_00005 |
5970 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
959G>A |
Ser320Asn |
M0061950 |
PCEHIHHK_00005 |
6188 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1177G>A |
Gly393Ser |
M0061951 |
PCEHIHHK_00006 |
8359 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
666C>T |
Gly222Gly |
M0061952 |
PCEHIHHK_00006 |
8530 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
495T>C |
Thr165Thr |
M0061953 |
PCEHIHHK_00004 |
4502 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
672A>G |
Gly224Gly |
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 |