Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2354 |
Reference Plasmid |
1111525849767596_bin.21__k141_101207 |
Reference Plasmid Size |
5920 |
Reference Plasmid GC Content |
0.46 |
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 |
M0039837 |
EKOKHOOJ_00001 |
1015 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
Leu40Leu |
M0039838 |
EKOKHOOJ_00001 |
1042 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Gly31Gly |
M0039839 |
EKOKHOOJ_00001 |
1091 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
44C>T |
Ser15Phe |
M0039840 |
EKOKHOOJ_00001 |
1092 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
43T>C |
Ser15Pro |
M0039841 |
EKOKHOOJ_00001 |
1106 |
20 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
29T>C |
Leu10Pro |
M0039842 |
EKOKHOOJ_00002 |
1248 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
22C>G |
Leu8Val |
M0039843 |
EKOKHOOJ_00002 |
1249 |
15 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
23T>C |
Leu8Pro |
M0039844 |
EKOKHOOJ_00002 |
1297 |
14 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
71C>T |
Ser24Leu |
M0039845 |
EKOKHOOJ_00002 |
1362 |
31 |
Skin |
0.66 |
protein_coding |
synonymous_variant |
LOW |
136C>T |
Leu46Leu |
M0039846 |
EKOKHOOJ_00002 |
1400 |
20 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
174A>G |
Leu58Leu |
M0039847 |
EKOKHOOJ_00002 |
1412 |
23 |
Skin |
0.49 |
protein_coding |
synonymous_variant |
LOW |
186G>T |
Ala62Ala |
M0039848 |
EKOKHOOJ_00002 |
1421 |
17 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
195T>C |
Pro65Pro |
M0039849 |
EKOKHOOJ_00002 |
1453 |
9 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
227C>T |
Ala76Val |
M0039850 |
EKOKHOOJ_00002 |
1458 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
232C>G |
Gln78Glu |
M0039851 |
EKOKHOOJ_00002 |
1472 |
25 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
246G>A |
Pro82Pro |
M0039852 |
EKOKHOOJ_00002 |
1473 |
32 |
Skin |
0.68 |
protein_coding |
synonymous_variant |
LOW |
247T>C |
Leu83Leu |
M0039853 |
EKOKHOOJ_00002 |
1479 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
253T>C |
Leu85Leu |
M0039854 |
EKOKHOOJ_00002 |
1496 |
29 |
Skin |
0.62 |
protein_coding |
synonymous_variant |
LOW |
270A>G |
Ala90Ala |
M0039855 |
EKOKHOOJ_00002 |
1505 |
19 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
279C>T |
Asp93Asp |
M0039856 |
EKOKHOOJ_00002 |
1529 |
17 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
303G>T |
Ala101Ala |
M0039857 |
EKOKHOOJ_00002 |
1547 |
29 |
Skin |
0.62 |
protein_coding |
synonymous_variant |
LOW |
321T>A |
Thr107Thr |
M0039858 |
EKOKHOOJ_00002 |
1583 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
357C>T |
Asp119Asp |
M0039859 |
EKOKHOOJ_00002 |
1604 |
12 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
378G>T |
Leu126Leu |
M0039860 |
EKOKHOOJ_00002 |
1619 |
27 |
Skin |
0.57 |
protein_coding |
synonymous_variant |
LOW |
393C>T |
Pro131Pro |
M0039861 |
EKOKHOOJ_00002 |
1622 |
27 |
Skin |
0.57 |
protein_coding |
synonymous_variant |
LOW |
396A>G |
Glu132Glu |
M0039862 |
EKOKHOOJ_00002 |
1649 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
423T>C |
Asp141Asp |
M0039863 |
EKOKHOOJ_00002 |
1694 |
31 |
Skin |
0.66 |
protein_coding |
synonymous_variant |
LOW |
468T>C |
Ala156Ala |
M0039864 |
EKOKHOOJ_00002 |
1812 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
586C>T |
Leu196Leu |
M0039865 |
EKOKHOOJ_00002 |
1845 |
10 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
619C>A |
Leu207Ile |
M0039866 |
EKOKHOOJ_00002 |
1847 |
29 |
Skin |
0.62 |
protein_coding |
synonymous_variant |
LOW |
621C>G |
Leu207Leu |
M0039867 |
EKOKHOOJ_00002 |
1905 |
35 |
Skin |
0.74 |
protein_coding |
synonymous_variant |
LOW |
679A>C |
Arg227Arg |
M0039868 |
EKOKHOOJ_00002 |
1925 |
19 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
699A>G |
Val233Val |
M0039869 |
EKOKHOOJ_00002 |
1970 |
16 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
744T>C |
Leu248Leu |
M0039870 |
EKOKHOOJ_00002 |
1979 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
753A>G |
Lys251Lys |
M0039871 |
EKOKHOOJ_00002 |
2111 |
35 |
Skin |
0.74 |
protein_coding |
synonymous_variant |
LOW |
885A>G |
Thr295Thr |
M0039872 |
EKOKHOOJ_00002 |
2123 |
25 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
897T>G |
Ala299Ala |
M0039873 |
EKOKHOOJ_00002 |
2126 |
26 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
900A>G |
Leu300Leu |
M0039874 |
EKOKHOOJ_00002 |
2243 |
37 |
Skin |
0.79 |
protein_coding |
synonymous_variant |
LOW |
1017C>T |
Arg339Arg |
M0039875 |
EKOKHOOJ_00002 |
2276 |
33 |
Skin |
0.70 |
protein_coding |
synonymous_variant |
LOW |
1050T>C |
Asp350Asp |
M0039876 |
EKOKHOOJ_00002 |
2279 |
37 |
Skin |
0.79 |
protein_coding |
synonymous_variant |
LOW |
1053A>G |
Val351Val |
M0039877 |
EKOKHOOJ_00002 |
2315 |
26 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
1089G>A |
Ala363Ala |
M0039878 |
EKOKHOOJ_00002 |
2333 |
37 |
Skin |
0.79 |
protein_coding |
synonymous_variant |
LOW |
1107A>G |
Ala369Ala |
M0039879 |
EKOKHOOJ_00002 |
2360 |
26 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
1134A>G |
Ser378Ser |
M0039880 |
EKOKHOOJ_00002 |
2387 |
14 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
1161T>C |
Gly387Gly |
M0039881 |
EKOKHOOJ_00002 |
2399 |
21 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
1173G>A |
Arg391Arg |
M0039882 |
EKOKHOOJ_00002 |
2400 |
19 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
1174C>T |
Leu392Leu |
M0039883 |
EKOKHOOJ_00002 |
2430 |
27 |
Skin |
0.57 |
protein_coding |
synonymous_variant |
LOW |
1204C>T |
Leu402Leu |
M0039884 |
EKOKHOOJ_00002 |
2474 |
12 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1248T>C |
Arg416Arg |
M0039885 |
EKOKHOOJ_00002 |
2498 |
35 |
Skin |
0.74 |
protein_coding |
synonymous_variant |
LOW |
1272G>A |
Thr424Thr |
M0039886 |
EKOKHOOJ_00002 |
2545 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1319G>A |
Gly440Asp |
M0039887 |
EKOKHOOJ_00002 |
2557 |
14 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
1331A>C |
Glu444Ala |
M0039888 |
EKOKHOOJ_00002 |
2681 |
23 |
Skin |
0.49 |
protein_coding |
synonymous_variant |
LOW |
1455G>A |
Thr485Thr |
M0039889 |
EKOKHOOJ_00002 |
2684 |
34 |
Skin |
0.72 |
protein_coding |
synonymous_variant |
LOW |
1458A>C |
Ala486Ala |
M0039890 |
EKOKHOOJ_00002 |
2789 |
22 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
1563T>G |
Arg521Arg |
M0039891 |
EKOKHOOJ_00002 |
2792 |
22 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
1566C>G |
Val522Val |
M0039892 |
EKOKHOOJ_00002 |
2795 |
22 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
1569T>A |
Thr523Thr |
M0039893 |
EKOKHOOJ_00003 |
2870 |
15 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
12A>T |
Ile4Ile |
M0039894 |
EKOKHOOJ_00003 |
3011 |
23 |
Skin |
0.49 |
protein_coding |
synonymous_variant |
LOW |
153A>C |
Gly51Gly |
M0039895 |
EKOKHOOJ_00003 |
3026 |
21 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
168A>G |
Leu56Leu |
M0039896 |
EKOKHOOJ_00003 |
3084 |
43 |
Skin |
0.91 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
226T>C |
Ter76Argext*? |
M0039897 |
EKOKHOOJ_00004 |
3201 |
38 |
Skin |
0.81 |
protein_coding |
synonymous_variant |
LOW |
87A>G |
Leu29Leu |
M0039898 |
EKOKHOOJ_00004 |
3204 |
38 |
Skin |
0.81 |
protein_coding |
synonymous_variant |
LOW |
90C>T |
Asp30Asp |
M0039899 |
EKOKHOOJ_00004 |
3205 |
38 |
Skin |
0.81 |
protein_coding |
missense_variant |
MODERATE |
91G>A |
Glu31Lys |
M0039900 |
EKOKHOOJ_00004 |
3279 |
21 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
165C>A |
Val55Val |
M0039901 |
EKOKHOOJ_00005 |
3417 |
34 |
Skin |
0.72 |
protein_coding |
missense_variant |
MODERATE |
224A>G |
His75Arg |
M0039902 |
EKOKHOOJ_00005 |
3460 |
38 |
Skin |
0.81 |
protein_coding |
missense_variant |
MODERATE |
181A>G |
Ile61Val |
M0039903 |
EKOKHOOJ_00005 |
3526 |
28 |
Skin |
0.60 |
protein_coding |
missense_variant |
MODERATE |
115C>A |
Pro39Thr |
M0039904 |
EKOKHOOJ_00006 |
3747 |
31 |
Skin |
0.66 |
protein_coding |
synonymous_variant |
LOW |
1365T>C |
Phe455Phe |
M0039905 |
EKOKHOOJ_00006 |
3750 |
23 |
Skin |
0.49 |
protein_coding |
synonymous_variant |
LOW |
1362G>A |
Leu454Leu |
M0039906 |
EKOKHOOJ_00006 |
3752 |
23 |
Skin |
0.49 |
protein_coding |
synonymous_variant |
LOW |
1360T>C |
Leu454Leu |
M0039907 |
EKOKHOOJ_00006 |
3753 |
20 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
1359A>G |
Val453Val |
M0039908 |
EKOKHOOJ_00001 |
1152 |
22 |
Skin |
0.47 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-18C>A |
None |
M0039909 |
EKOKHOOJ_00001 |
1162 |
12 |
Skin |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-28G>A |
None |
M0039910 |
EKOKHOOJ_00002 |
1227 |
9 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
1G>A |
Val1Met |
M0039911 |
EKOKHOOJ_00002 |
1481 |
16 |
Skin |
0.34 |
protein_coding |
missense_variant |
MODERATE |
255G>T |
Leu85Phe |
M0039912 |
EKOKHOOJ_00002 |
1483 |
16 |
Skin |
0.34 |
protein_coding |
missense_variant |
MODERATE |
257A>C |
Asn86Thr |
M0039913 |
EKOKHOOJ_00002 |
1592 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Asp122Asp |
M0039914 |
EKOKHOOJ_00002 |
1616 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
390C>T |
Val130Val |
M0039915 |
EKOKHOOJ_00002 |
1625 |
13 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
399G>A |
Thr133Thr |
M0039916 |
EKOKHOOJ_00002 |
1658 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
432C>G |
Pro144Pro |
M0039917 |
EKOKHOOJ_00002 |
1661 |
12 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
435C>T |
Ile145Ile |
M0039918 |
EKOKHOOJ_00002 |
1688 |
22 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
462C>T |
Ser154Ser |
M0039919 |
EKOKHOOJ_00002 |
1745 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
519A>G |
Leu173Leu |
M0039920 |
EKOKHOOJ_00002 |
1829 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
603C>T |
Ile201Ile |
M0039921 |
EKOKHOOJ_00002 |
1868 |
18 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
642G>A |
Val214Val |
M0039922 |
EKOKHOOJ_00002 |
1910 |
16 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
684G>A |
Glu228Glu |
M0039923 |
EKOKHOOJ_00002 |
1919 |
16 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
693G>A |
Val231Val |
M0039924 |
EKOKHOOJ_00002 |
1985 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
759G>C |
Ala253Ala |
M0039925 |
EKOKHOOJ_00002 |
1997 |
14 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
771T>C |
Asn257Asn |
M0039926 |
EKOKHOOJ_00002 |
2084 |
12 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
858T>A |
Gly286Gly |
M0039927 |
EKOKHOOJ_00002 |
2087 |
13 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
861G>T |
Pro287Pro |
M0039928 |
EKOKHOOJ_00002 |
2240 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1014C>G |
Ala338Ala |
M0039929 |
EKOKHOOJ_00002 |
2282 |
12 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1056G>C |
Val352Val |
M0039930 |
EKOKHOOJ_00002 |
2402 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1176A>G |
Leu392Leu |
M0039931 |
EKOKHOOJ_00002 |
2423 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1197G>A |
Pro399Pro |
M0039932 |
EKOKHOOJ_00002 |
2441 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1215C>T |
Ser405Ser |
M0039933 |
EKOKHOOJ_00002 |
2468 |
16 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
1242C>A |
Leu414Leu |
M0039934 |
EKOKHOOJ_00002 |
2477 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1251C>T |
Thr417Thr |
M0039935 |
EKOKHOOJ_00002 |
2502 |
19 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
1276G>A |
Ala426Thr |
M0039936 |
EKOKHOOJ_00002 |
2504 |
24 |
Skin |
0.51 |
protein_coding |
synonymous_variant |
LOW |
1278A>G |
Ala426Ala |
M0039937 |
EKOKHOOJ_00002 |
2551 |
33 |
Skin |
0.70 |
protein_coding |
missense_variant |
MODERATE |
1325G>T |
Gly442Val |
M0039938 |
EKOKHOOJ_00002 |
2576 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1350T>C |
Pro450Pro |
M0039939 |
EKOKHOOJ_00002 |
2675 |
19 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
1449C>T |
Ser483Ser |
M0039940 |
EKOKHOOJ_00002 |
2762 |
15 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1536C>G |
Gly512Gly |
M0039941 |
EKOKHOOJ_00002 |
2771 |
12 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1545A>G |
Thr515Thr |
M0039942 |
EKOKHOOJ_00002 |
2774 |
16 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
1548A>T |
Leu516Leu |
M0039943 |
EKOKHOOJ_00002 |
2787 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1561C>A |
Arg521Ser |
M0039944 |
EKOKHOOJ_00003 |
2952 |
25 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
94T>C |
Ser32Pro |
M0039945 |
EKOKHOOJ_00003 |
2954 |
25 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
96C>G |
Ser32Ser |
M0039946 |
EKOKHOOJ_00001 |
3110 |
29 |
Skin |
0.62 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1976G>T |
None |
M0039947 |
EKOKHOOJ_00004 |
3165 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
Ser17Ser |
M0039948 |
EKOKHOOJ_00004 |
3177 |
42 |
Skin |
0.89 |
protein_coding |
synonymous_variant |
LOW |
63A>G |
Arg21Arg |
M0039949 |
EKOKHOOJ_00004 |
3184 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
70G>C |
Glu24Gln |
M0039950 |
EKOKHOOJ_00004 |
3270 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
156T>C |
Ile52Ile |
M0039951 |
EKOKHOOJ_00004 |
3273 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
159C>T |
Arg53Arg |
M0039952 |
EKOKHOOJ_00004 |
3285 |
20 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
171A>G |
Ala57Ala |
M0039953 |
EKOKHOOJ_00004 |
3288 |
20 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
174T>G |
Ile58Met |
M0039954 |
EKOKHOOJ_00001 |
3318 |
9 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2184C>A |
None |
M0039955 |
EKOKHOOJ_00005 |
3354 |
32 |
Skin |
0.68 |
protein_coding |
missense_variant |
MODERATE |
287C>T |
Thr96Met |
M0039956 |
EKOKHOOJ_00005 |
3364 |
23 |
Skin |
0.49 |
protein_coding |
missense_variant |
MODERATE |
277A>G |
Ile93Val |
M0039957 |
EKOKHOOJ_00005 |
3374 |
30 |
Skin |
0.64 |
protein_coding |
synonymous_variant |
LOW |
267T>C |
Ile89Ile |
M0039958 |
EKOKHOOJ_00005 |
3382 |
25 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
259C>A |
His87Asn |
M0039959 |
EKOKHOOJ_00005 |
3449 |
27 |
Skin |
0.57 |
protein_coding |
missense_variant |
MODERATE |
192G>T |
Lys64Asn |
M0039960 |
EKOKHOOJ_00005 |
3465 |
36 |
Skin |
0.77 |
protein_coding |
missense_variant |
MODERATE |
176G>T |
Arg59Leu |
M0039961 |
EKOKHOOJ_00005 |
3515 |
15 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
126A>G |
Leu42Leu |
M0039962 |
EKOKHOOJ_00005 |
3517 |
16 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
124C>T |
Leu42Leu |
M0039963 |
EKOKHOOJ_00005 |
3535 |
18 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
106A>T |
Thr36Ser |
M0039964 |
EKOKHOOJ_00005 |
3552 |
15 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
89C>A |
Ala30Glu |
M0039965 |
EKOKHOOJ_00006 |
3648 |
15 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1464G>T |
Gly488Gly |
M0039966 |
EKOKHOOJ_00006 |
3651 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1461A>G |
Leu487Leu |
M0039967 |
EKOKHOOJ_00006 |
3654 |
20 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
1458T>G |
Val486Val |
M0039968 |
EKOKHOOJ_00006 |
3657 |
20 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
1455G>A |
Glu485Glu |
M0039969 |
EKOKHOOJ_00006 |
3660 |
19 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
1452A>G |
Val484Val |
M0039970 |
EKOKHOOJ_00006 |
3662 |
11 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1450G>A |
Val484Ile |
M0039971 |
EKOKHOOJ_00006 |
3792 |
25 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
1320C>T |
Pro440Pro |
M0039972 |
EKOKHOOJ_00006 |
3809 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1303C>T |
His435Tyr |
M0039973 |
EKOKHOOJ_00006 |
3821 |
15 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1291C>T |
Leu431Leu |
M0039974 |
EKOKHOOJ_00006 |
4124 |
12 |
Skin |
0.26 |
protein_coding |
missense_variant |
MODERATE |
988A>G |
Ile330Val |
M0039975 |
EKOKHOOJ_00006 |
4155 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
957C>T |
Ala319Ala |
M0039976 |
EKOKHOOJ_00006 |
4185 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
927G>A |
Val309Val |
M0039977 |
EKOKHOOJ_00006 |
4203 |
18 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
909T>C |
Ser303Ser |
M0039978 |
EKOKHOOJ_00006 |
4260 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
852A>C |
Pro284Pro |
M0039979 |
EKOKHOOJ_00006 |
4263 |
14 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
849C>T |
His283His |
M0039980 |
EKOKHOOJ_00006 |
4305 |
15 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
807A>G |
Ala269Ala |
M0039981 |
EKOKHOOJ_00006 |
4317 |
18 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
795A>G |
Leu265Leu |
M0039982 |
EKOKHOOJ_00006 |
4425 |
24 |
Skin |
0.51 |
protein_coding |
synonymous_variant |
LOW |
687T>C |
Asp229Asp |
M0039983 |
EKOKHOOJ_00006 |
4434 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
678C>T |
Ala226Ala |
M0039984 |
EKOKHOOJ_00006 |
4452 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
660C>A |
Pro220Pro |
M0039985 |
EKOKHOOJ_00006 |
4473 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
639C>A |
Arg213Arg |
M0039986 |
EKOKHOOJ_00006 |
4476 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
636C>T |
Thr212Thr |
M0039987 |
EKOKHOOJ_00006 |
4482 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
630T>C |
Pro210Pro |
M0039988 |
EKOKHOOJ_00006 |
4491 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
621T>C |
Cys207Cys |
M0039989 |
EKOKHOOJ_00006 |
4527 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
585T>C |
Ser195Ser |
M0039990 |
EKOKHOOJ_00006 |
4641 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
471G>A |
Gln157Gln |
M0039991 |
EKOKHOOJ_00006 |
4764 |
18 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
348C>G |
Val116Val |
M0039992 |
EKOKHOOJ_00006 |
4953 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
159C>T |
Tyr53Tyr |
M0039993 |
EKOKHOOJ_00006 |
5006 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
106G>A |
Ala36Thr |
M0039994 |
EKOKHOOJ_00006 |
5014 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
98C>T |
Pro33Leu |
M0039995 |
EKOKHOOJ_00006 |
5016 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
96G>A |
Pro32Pro |
M0039996 |
EKOKHOOJ_00006 |
5023 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
89C>A |
Thr30Asn |
M0039997 |
EKOKHOOJ_00006 |
5038 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
74C>T |
Ala25Val |
M0039998 |
EKOKHOOJ_00006 |
5082 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
30C>A |
Ala10Ala |
M0039999 |
EKOKHOOJ_00001 |
5147 |
7 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4013G>A |
None |
M0040000 |
EKOKHOOJ_00007 |
5197 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
639G>A |
Val213Val |
M0040001 |
EKOKHOOJ_00007 |
5209 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
627C>T |
Val209Val |
M0040002 |
EKOKHOOJ_00007 |
5218 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
618C>T |
Ser206Ser |
M0040003 |
EKOKHOOJ_00007 |
5287 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
549C>A |
Arg183Arg |
M0040004 |
EKOKHOOJ_00007 |
5531 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
305A>G |
Asp102Gly |
M0040005 |
EKOKHOOJ_00007 |
5542 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
294C>T |
Ala98Ala |
M0040006 |
EKOKHOOJ_00007 |
5563 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
273A>G |
Ala91Ala |
M0040007 |
EKOKHOOJ_00007 |
5592 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
244G>A |
Ala82Thr |
M0040008 |
EKOKHOOJ_00007 |
5599 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
Arg79Arg |
M0040009 |
EKOKHOOJ_00007 |
5650 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
186G>A |
Thr62Thr |
M0040010 |
EKOKHOOJ_00007 |
5668 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
168T>C |
Ile56Ile |
M0040011 |
EKOKHOOJ_00007 |
5679 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
157C>T |
Leu53Leu |
M0040012 |
EKOKHOOJ_00007 |
5688 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
148G>A |
Ala50Thr |
M0040013 |
EKOKHOOJ_00007 |
5731 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
105C>T |
Asp35Asp |
M0040014 |
EKOKHOOJ_00007 |
5761 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
75G>A |
Ala25Ala |
M0040015 |
EKOKHOOJ_00007 |
5764 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
72A>G |
Val24Val |
M0040016 |
EKOKHOOJ_00001 |
814 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
321T>G |
Val107Val |
M0040017 |
EKOKHOOJ_00001 |
820 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
315C>T |
Ser105Ser |
M0040018 |
EKOKHOOJ_00001 |
821 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
314G>C |
Ser105Thr |
M0040019 |
EKOKHOOJ_00001 |
824 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
311C>A |
Ala104Asp |
M0040020 |
EKOKHOOJ_00001 |
826 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
309G>T |
Ala103Ala |
M0040021 |
EKOKHOOJ_00001 |
829 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
306C>T |
Asp102Asp |
M0040022 |
EKOKHOOJ_00001 |
841 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
294T>G |
Ala98Ala |
M0040023 |
EKOKHOOJ_00001 |
868 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
267A>G |
Glu89Glu |
M0040024 |
EKOKHOOJ_00001 |
907 |
11 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
228A>C |
Lys76Asn |
M0040025 |
EKOKHOOJ_00001 |
922 |
12 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
213G>A |
Val71Val |
M0040026 |
EKOKHOOJ_00001 |
952 |
18 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
183C>G |
Ala61Ala |
M0040027 |
EKOKHOOJ_00001 |
1045 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
90C>T |
Ile30Ile |
M0040028 |
EKOKHOOJ_00001 |
1054 |
12 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
81G>C |
Pro27Pro |
M0040029 |
EKOKHOOJ_00001 |
1055 |
10 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
80C>T |
Pro27Leu |
M0040030 |
EKOKHOOJ_00001 |
1065 |
10 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
70G>C |
Ala24Pro |
M0040031 |
EKOKHOOJ_00001 |
1068 |
10 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
67A>G |
Thr23Ala |
M0040032 |
EKOKHOOJ_00001 |
1069 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
66A>C |
Ile22Ile |
M0040033 |
EKOKHOOJ_00001 |
1070 |
10 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
65T>C |
Ile22Thr |
M0040034 |
EKOKHOOJ_00001 |
1085 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
50G>T |
Ser17Ile |
M0040035 |
EKOKHOOJ_00001 |
1101 |
18 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
34G>A |
Ala12Thr |
M0040036 |
EKOKHOOJ_00001 |
1150 |
7 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-16C>T |
None |
M0040037 |
EKOKHOOJ_00002 |
1667 |
12 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
441G>C |
Arg147Arg |
M0040038 |
EKOKHOOJ_00002 |
1676 |
20 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
450C>T |
Asn150Asn |
M0040039 |
EKOKHOOJ_00002 |
1679 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
453G>A |
Ala151Ala |
M0040040 |
EKOKHOOJ_00002 |
1683 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
457C>T |
Leu153Leu |
M0040041 |
EKOKHOOJ_00002 |
1697 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
471C>A |
Ile157Ile |
M0040042 |
EKOKHOOJ_00002 |
1724 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
498C>T |
Ile166Ile |
M0040043 |
EKOKHOOJ_00002 |
1811 |
18 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
585A>G |
Pro195Pro |
M0040044 |
EKOKHOOJ_00002 |
2096 |
13 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
870G>A |
Ser290Ser |
M0040045 |
EKOKHOOJ_00002 |
2555 |
24 |
Skin |
0.51 |
protein_coding |
synonymous_variant |
LOW |
1329G>A |
Gly443Gly |
M0040046 |
EKOKHOOJ_00002 |
2723 |
19 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
1497G>A |
Pro499Pro |
M0040047 |
EKOKHOOJ_00002 |
2726 |
19 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
1500A>C |
Ser500Ser |
M0040048 |
EKOKHOOJ_00001 |
2827 |
23 |
Skin |
0.49 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1693C>A |
None |
M0040049 |
EKOKHOOJ_00004 |
3144 |
12 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
30T>G |
Ala10Ala |
M0040050 |
EKOKHOOJ_00005 |
3583 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
58C>A |
His20Asn |
M0040051 |
EKOKHOOJ_00005 |
3604 |
14 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
37A>C |
Lys13Gln |
M0040052 |
EKOKHOOJ_00006 |
3984 |
17 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
1128A>G |
Ser376Ser |
M0040053 |
EKOKHOOJ_00006 |
3987 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1125T>C |
His375His |
M0040054 |
EKOKHOOJ_00006 |
4158 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
954T>C |
Ala318Ala |
M0040055 |
EKOKHOOJ_00006 |
4202 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
910C>T |
His304Tyr |
M0040056 |
EKOKHOOJ_00006 |
4209 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
903G>A |
Leu301Leu |
M0040057 |
EKOKHOOJ_00006 |
4416 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
696C>T |
Ala232Ala |
M0040058 |
EKOKHOOJ_00006 |
4443 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
669C>T |
Asp223Asp |
M0040059 |
EKOKHOOJ_00006 |
4551 |
18 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
561A>G |
Val187Val |
M0040060 |
EKOKHOOJ_00006 |
4767 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
345T>C |
Gly115Gly |
M0040061 |
EKOKHOOJ_00002 |
257 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-970C>G |
None |
M0040062 |
EKOKHOOJ_00001 |
403 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
732A>G |
Leu244Leu |
M0040063 |
EKOKHOOJ_00001 |
475 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
660T>C |
Ala220Ala |
M0040064 |
EKOKHOOJ_00001 |
478 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
657C>T |
Ala219Ala |
M0040065 |
EKOKHOOJ_00001 |
559 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
576C>T |
Asn192Asn |
M0040066 |
EKOKHOOJ_00001 |
562 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
573C>A |
Leu191Leu |
M0040067 |
EKOKHOOJ_00001 |
564 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
571C>T |
Leu191Phe |
M0040068 |
EKOKHOOJ_00001 |
565 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
570G>A |
Leu190Leu |
M0040069 |
EKOKHOOJ_00001 |
567 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
568T>C |
Leu190Leu |
M0040070 |
EKOKHOOJ_00001 |
568 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
567A>G |
Gly189Gly |
M0040071 |
EKOKHOOJ_00001 |
573 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
562C>T |
Leu188Leu |
M0040072 |
EKOKHOOJ_00001 |
574 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
561T>C |
Gly187Gly |
M0040073 |
EKOKHOOJ_00002 |
1391 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
165G>A |
Pro55Pro |
M0040074 |
EKOKHOOJ_00002 |
1424 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
198G>A |
Met66Ile |
M0040075 |
EKOKHOOJ_00002 |
1670 |
14 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
444A>G |
Leu148Leu |
M0040076 |
EKOKHOOJ_00002 |
1673 |
14 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
447C>T |
Ile149Ile |
M0040077 |
EKOKHOOJ_00002 |
1763 |
23 |
Skin |
0.49 |
protein_coding |
synonymous_variant |
LOW |
537A>G |
Val179Val |
M0040078 |
EKOKHOOJ_00002 |
1799 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
573G>C |
Arg191Arg |
M0040079 |
EKOKHOOJ_00002 |
1802 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
576A>G |
Glu192Glu |
M0040080 |
EKOKHOOJ_00002 |
1823 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
597G>A |
Ser199Ser |
M0040081 |
EKOKHOOJ_00002 |
2023 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
797A>G |
Asn266Ser |
M0040082 |
EKOKHOOJ_00002 |
2129 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
903G>A |
Thr301Thr |
M0040083 |
EKOKHOOJ_00002 |
2132 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
906T>G |
Asp302Glu |
M0040084 |
EKOKHOOJ_00002 |
2198 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
972T>C |
Ile324Ile |
M0040085 |
EKOKHOOJ_00002 |
2225 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
999G>A |
Val333Val |
M0040086 |
EKOKHOOJ_00002 |
2228 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1002T>C |
Asp334Asp |
M0040087 |
EKOKHOOJ_00002 |
2453 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1227G>A |
Val409Val |
M0040088 |
EKOKHOOJ_00002 |
2503 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1277C>T |
Ala426Val |
M0040089 |
EKOKHOOJ_00002 |
2585 |
22 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
1359T>C |
Cys453Cys |
M0040090 |
EKOKHOOJ_00002 |
2732 |
14 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
1506T>C |
Arg502Arg |
M0040091 |
EKOKHOOJ_00003 |
2992 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
134C>T |
Pro45Leu |
M0040092 |
EKOKHOOJ_00001 |
3101 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1967G>A |
None |
M0040093 |
EKOKHOOJ_00005 |
3546 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
95A>G |
Asn32Ser |
M0040094 |
EKOKHOOJ_00006 |
3714 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1398G>A |
Val466Val |
M0040095 |
EKOKHOOJ_00006 |
3771 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1341A>T |
Ala447Ala |
M0040096 |
EKOKHOOJ_00006 |
3858 |
14 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
1254G>A |
Ala418Ala |
M0040097 |
EKOKHOOJ_00006 |
3864 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1248C>T |
Thr416Thr |
M0040098 |
EKOKHOOJ_00006 |
3870 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1242T>C |
Asp414Asp |
M0040099 |
EKOKHOOJ_00006 |
3873 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1239C>T |
Val413Val |
M0040100 |
EKOKHOOJ_00006 |
3875 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1237G>A |
Val413Ile |
M0040101 |
EKOKHOOJ_00006 |
3882 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1230G>A |
Lys410Lys |
M0040102 |
EKOKHOOJ_00006 |
3884 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1228A>C |
Lys410Gln |
M0040103 |
EKOKHOOJ_00006 |
3885 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1227A>G |
Gln409Gln |
M0040104 |
EKOKHOOJ_00006 |
3951 |
15 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1161G>C |
Thr387Thr |
M0040105 |
EKOKHOOJ_00006 |
3954 |
19 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
1158T>C |
Gly386Gly |
M0040106 |
EKOKHOOJ_00006 |
3957 |
19 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
1155T>A |
Pro385Pro |
M0040107 |
EKOKHOOJ_00006 |
4041 |
12 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1071T>C |
Thr357Thr |
M0040108 |
EKOKHOOJ_00006 |
4344 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
768C>T |
Gly256Gly |
M0040109 |
EKOKHOOJ_00006 |
4530 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
582A>G |
Val194Val |
M0040110 |
EKOKHOOJ_00006 |
4536 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
576G>A |
Ala192Ala |
M0040111 |
EKOKHOOJ_00006 |
4539 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
573G>A |
Lys191Lys |
M0040112 |
EKOKHOOJ_00006 |
4557 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
555C>T |
Pro185Pro |
M0040113 |
EKOKHOOJ_00006 |
4584 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
528T>C |
Ile176Ile |
M0040114 |
EKOKHOOJ_00006 |
4587 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
525C>T |
Ser175Ser |
M0040115 |
EKOKHOOJ_00002 |
1613 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
387T>C |
Ser129Ser |
M0040116 |
EKOKHOOJ_00002 |
1863 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
637C>A |
Arg213Arg |
M0040117 |
EKOKHOOJ_00002 |
1890 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
664T>C |
Leu222Leu |
M0040118 |
EKOKHOOJ_00002 |
1898 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
672G>T |
Leu224Leu |
M0040119 |
EKOKHOOJ_00002 |
2318 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1092A>G |
Glu364Glu |
M0040120 |
EKOKHOOJ_00002 |
2603 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1377A>G |
Ser459Ser |
M0040121 |
EKOKHOOJ_00002 |
2621 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1395T>C |
Thr465Thr |
M0040122 |
EKOKHOOJ_00002 |
2757 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1531G>A |
Ala511Thr |
M0040123 |
EKOKHOOJ_00002 |
2759 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1533A>G |
Ala511Ala |
M0040124 |
EKOKHOOJ_00002 |
2784 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1558T>C |
Leu520Leu |
M0040125 |
EKOKHOOJ_00001 |
2817 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1683T>C |
None |
M0040126 |
EKOKHOOJ_00003 |
2960 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
102G>A |
Ala34Ala |
M0040127 |
EKOKHOOJ_00003 |
2963 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
105A>G |
Leu35Leu |
M0040128 |
EKOKHOOJ_00003 |
2966 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
108A>C |
Val36Val |
M0040129 |
EKOKHOOJ_00003 |
2972 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
114A>G |
Glu38Glu |
M0040130 |
EKOKHOOJ_00003 |
2977 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
119T>A |
Phe40Tyr |
M0040131 |
EKOKHOOJ_00003 |
2984 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
126C>T |
His42His |
M0040132 |
EKOKHOOJ_00003 |
2985 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
127G>A |
Asp43Asn |
M0040133 |
EKOKHOOJ_00003 |
3032 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
174T>A |
Val58Val |
M0040134 |
EKOKHOOJ_00003 |
3083 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
225A>C |
Ala75Ala |
M0040135 |
EKOKHOOJ_00005 |
3380 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
261C>T |
His87His |
M0040136 |
EKOKHOOJ_00005 |
3408 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
233C>A |
Ser78Tyr |
M0040137 |
EKOKHOOJ_00006 |
3708 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1404G>A |
Val468Val |
M0040138 |
EKOKHOOJ_00006 |
3735 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1377C>T |
Asp459Asp |
M0040139 |
EKOKHOOJ_00006 |
3789 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1323A>G |
Glu441Glu |
M0040140 |
EKOKHOOJ_00006 |
3960 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1152C>T |
Arg384Arg |
M0040141 |
EKOKHOOJ_00006 |
4020 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1092A>G |
Thr364Thr |
M0040142 |
EKOKHOOJ_00006 |
4023 |
12 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1089C>T |
Asp363Asp |
M0040143 |
EKOKHOOJ_00003 |
2991 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
133C>A |
Pro45Thr |
M0040144 |
EKOKHOOJ_00004 |
3163 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
49T>C |
Ser17Pro |
M0040145 |
EKOKHOOJ_00005 |
3329 |
13 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Asp104Asp |
M0040146 |
EKOKHOOJ_00006 |
4560 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
552G>A |
Glu184Glu |
M0040147 |
EKOKHOOJ_00006 |
4707 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
405C>G |
Val135Val |
M0040148 |
EKOKHOOJ_00002 |
2772 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1546C>T |
Leu516Leu |
M0040149 |
EKOKHOOJ_00002 |
2783 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1557G>A |
Val519Val |
M0040150 |
EKOKHOOJ_00001 |
928 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
207C>A |
Arg69Arg |
M0040151 |
EKOKHOOJ_00001 |
958 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
177T>C |
Ser59Ser |
M0040152 |
EKOKHOOJ_00001 |
1102 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
33A>G |
Ala11Ala |
M0040153 |
EKOKHOOJ_00001 |
1118 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
17T>C |
Leu6Ser |
M0040154 |
EKOKHOOJ_00002 |
1469 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
243G>A |
Val81Val |
M0040155 |
EKOKHOOJ_00002 |
1516 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
290A>G |
Lys97Arg |
M0040156 |
EKOKHOOJ_00002 |
1742 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
516G>C |
Arg172Arg |
M0040157 |
EKOKHOOJ_00002 |
1751 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
525G>A |
Val175Val |
M0040158 |
EKOKHOOJ_00002 |
1770 |
10 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
544A>G |
Ile182Val |
M0040159 |
EKOKHOOJ_00002 |
1772 |
9 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
546A>G |
Ile182Met |
M0040160 |
EKOKHOOJ_00002 |
1775 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
549C>T |
Leu183Leu |
M0040161 |
EKOKHOOJ_00002 |
1832 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
606G>A |
Lys202Lys |
M0040162 |
EKOKHOOJ_00002 |
1952 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
726G>A |
Glu242Glu |
M0040163 |
EKOKHOOJ_00002 |
2012 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
786G>T |
Gly262Gly |
M0040164 |
EKOKHOOJ_00002 |
2051 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
825C>T |
Ile275Ile |
M0040165 |
EKOKHOOJ_00002 |
2063 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
837T>C |
His279His |
M0040166 |
EKOKHOOJ_00002 |
2246 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1020T>C |
Ser340Ser |
M0040167 |
EKOKHOOJ_00002 |
2247 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1021T>C |
Leu341Leu |
M0040168 |
EKOKHOOJ_00002 |
2492 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1266C>T |
Cys422Cys |
M0040169 |
EKOKHOOJ_00002 |
2558 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1332G>A |
Glu444Glu |
M0040170 |
EKOKHOOJ_00002 |
2588 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1362G>T |
Glu454Asp |
M0040171 |
EKOKHOOJ_00002 |
2655 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1429C>T |
Leu477Leu |
M0040172 |
EKOKHOOJ_00002 |
2687 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1461A>G |
Glu487Glu |
M0040173 |
EKOKHOOJ_00002 |
2714 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1488C>T |
Ser496Ser |
M0040174 |
EKOKHOOJ_00001 |
2830 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1696C>A |
None |
M0040175 |
EKOKHOOJ_00001 |
2846 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1712C>T |
None |
M0040176 |
EKOKHOOJ_00003 |
2894 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
36G>A |
Glu12Glu |
M0040177 |
EKOKHOOJ_00005 |
3500 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
141T>G |
Asn47Lys |
M0040178 |
EKOKHOOJ_00001 |
3644 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2510G>T |
None |
M0040179 |
EKOKHOOJ_00001 |
1028 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
107C>A |
Thr36Asn |
M0040180 |
EKOKHOOJ_00002 |
2612 |
11 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1386G>A |
Arg462Arg |
M0040181 |
EKOKHOOJ_00007 |
5260 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
576T>C |
Ser192Ser |
M0040182 |
EKOKHOOJ_00007 |
5262 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
574T>C |
Ser192Pro |
M0040183 |
EKOKHOOJ_00007 |
5395 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
441G>A |
Glu147Glu |
M0040184 |
EKOKHOOJ_00007 |
5488 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
348T>C |
Pro116Pro |
M0040185 |
EKOKHOOJ_00002 |
1304 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
78C>A |
Ile26Ile |
M0040186 |
EKOKHOOJ_00002 |
1880 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
654A>C |
Gly218Gly |
M0040187 |
EKOKHOOJ_00002 |
2537 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1311T>C |
Thr437Thr |
M0040188 |
EKOKHOOJ_00002 |
2702 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1476G>C |
Ala492Ala |
M0040189 |
EKOKHOOJ_00006 |
3867 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1245A>G |
Ser415Ser |
M0040190 |
EKOKHOOJ_00006 |
3892 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1220C>A |
Ala407Glu |
M0040191 |
EKOKHOOJ_00006 |
3894 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1218G>T |
Ala406Ala |
M0040192 |
EKOKHOOJ_00006 |
3966 |
12 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1146A>T |
Ser382Ser |
M0040193 |
EKOKHOOJ_00006 |
4137 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
975C>T |
Thr325Thr |
M0040194 |
EKOKHOOJ_00006 |
4170 |
12 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
942T>C |
Asn314Asn |
M0040195 |
EKOKHOOJ_00006 |
4194 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
918T>C |
His306His |
M0040196 |
EKOKHOOJ_00006 |
4284 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
828C>T |
Arg276Arg |
M0040197 |
EKOKHOOJ_00002 |
103 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1124T>C |
None |
M0040198 |
EKOKHOOJ_00002 |
273 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-954C>T |
None |
M0040199 |
EKOKHOOJ_00001 |
376 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
759A>G |
Val253Val |
M0040200 |
EKOKHOOJ_00001 |
406 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
729A>G |
Val243Val |
M0040201 |
EKOKHOOJ_00001 |
556 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
579T>C |
Arg193Arg |
M0040202 |
EKOKHOOJ_00001 |
571 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
564A>G |
Leu188Leu |
M0040203 |
EKOKHOOJ_00001 |
646 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
489A>G |
Pro163Pro |
M0040204 |
EKOKHOOJ_00001 |
670 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
465G>A |
Val155Val |
M0040205 |
EKOKHOOJ_00001 |
697 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
438A>G |
Lys146Lys |
M0040206 |
EKOKHOOJ_00001 |
703 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
432C>G |
Ala144Ala |
M0040207 |
EKOKHOOJ_00001 |
707 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
428A>G |
Lys143Arg |
M0040208 |
EKOKHOOJ_00001 |
724 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
411T>C |
Asn137Asn |
M0040209 |
EKOKHOOJ_00001 |
727 |
10 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
408T>C |
Pro136Pro |
M0040210 |
EKOKHOOJ_00001 |
748 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
387C>G |
Gly129Gly |
M0040211 |
EKOKHOOJ_00001 |
817 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
318C>T |
Ala106Ala |
M0040212 |
EKOKHOOJ_00001 |
853 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
282G>A |
Leu94Leu |
M0040213 |
EKOKHOOJ_00001 |
985 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
150A>T |
Ala50Ala |
M0040214 |
EKOKHOOJ_00001 |
1103 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
32C>A |
Ala11Glu |
M0040215 |
EKOKHOOJ_00001 |
1121 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
14C>A |
Thr5Asn |
M0040216 |
EKOKHOOJ_00001 |
802 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
333G>A |
Gln111Gln |
M0040217 |
EKOKHOOJ_00006 |
3969 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1143C>T |
Tyr381Tyr |
M0040218 |
EKOKHOOJ_00006 |
4104 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1008G>A |
Leu336Leu |
M0040219 |
EKOKHOOJ_00002 |
1490 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
264C>T |
Ala88Ala |
M0040220 |
EKOKHOOJ_00002 |
2515 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1289C>G |
Ala430Gly |
M0040221 |
EKOKHOOJ_00006 |
3723 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1389T>C |
Gly463Gly |
M0040222 |
EKOKHOOJ_00006 |
4650 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
462C>T |
Ser154Ser |
M0040223 |
EKOKHOOJ_00006 |
4149 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
963A>G |
Lys321Lys |
M0040224 |
EKOKHOOJ_00001 |
349 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
786A>G |
Ala262Ala |
M0040225 |
EKOKHOOJ_00001 |
358 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
777C>T |
Ala259Ala |
M0040226 |
EKOKHOOJ_00001 |
361 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
774A>G |
Glu258Glu |
M0040227 |
EKOKHOOJ_00001 |
373 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
762G>A |
Met254Ile |
M0040228 |
EKOKHOOJ_00001 |
382 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
753T>C |
His251His |
M0040229 |
EKOKHOOJ_00004 |
3227 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
113T>C |
Val38Ala |
M0040230 |
EKOKHOOJ_00006 |
4449 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
663C>A |
Leu221Leu |
M0040231 |
EKOKHOOJ_00006 |
4467 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
645A>G |
Glu215Glu |
M0040232 |
EKOKHOOJ_00006 |
4590 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
522A>T |
Pro174Pro |
M0040233 |
EKOKHOOJ_00006 |
4911 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
201G>C |
Gly67Gly |
M0040234 |
EKOKHOOJ_00006 |
4917 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
195G>C |
Ser65Ser |
M0040235 |
EKOKHOOJ_00006 |
4920 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
192T>C |
Asp64Asp |
M0040236 |
EKOKHOOJ_00002 |
1682 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
456A>G |
Leu152Leu |
M0040237 |
EKOKHOOJ_00007 |
5326 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
510C>G |
Ala170Ala |
M0040238 |
EKOKHOOJ_00007 |
5803 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
33A>G |
Leu11Leu |
M0040239 |
EKOKHOOJ_00001 |
466 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
669G>A |
Leu223Leu |
M0040240 |
EKOKHOOJ_00001 |
499 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Gly212Gly |
M0040241 |
EKOKHOOJ_00001 |
511 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
624G>A |
Leu208Leu |
M0040242 |
EKOKHOOJ_00001 |
514 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
621T>C |
Val207Val |
M0040243 |
EKOKHOOJ_00001 |
517 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
618T>G |
Pro206Pro |
M0040244 |
EKOKHOOJ_00001 |
550 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
585C>T |
Thr195Thr |
M0040245 |
EKOKHOOJ_00001 |
709 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
426G>C |
Val142Val |
M0040246 |
EKOKHOOJ_00002 |
1466 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
240G>A |
Gly80Gly |
M0040247 |
EKOKHOOJ_00002 |
2375 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1149T>C |
Asn383Asn |
M0040248 |
EKOKHOOJ_00002 |
2378 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1152G>C |
Thr384Thr |
M0040249 |
EKOKHOOJ_00006 |
3840 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1272G>A |
Val424Val |
M0040250 |
EKOKHOOJ_00007 |
5313 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
523C>A |
Pro175Thr |
M0040251 |
EKOKHOOJ_00007 |
5314 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
522C>A |
Thr174Thr |
M0040252 |
EKOKHOOJ_00001 |
460 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
675G>A |
Leu225Leu |
M0040253 |
EKOKHOOJ_00001 |
487 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
648C>T |
Ala216Ala |
M0040254 |
EKOKHOOJ_00001 |
541 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
594A>C |
Leu198Leu |
M0040255 |
EKOKHOOJ_00006 |
3926 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1186A>G |
Ile396Val |
M0040256 |
EKOKHOOJ_00001 |
313 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
822T>C |
Ser274Ser |
M0040257 |
EKOKHOOJ_00001 |
331 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
804T>C |
Arg268Arg |
M0040258 |
EKOKHOOJ_00006 |
4749 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
363G>A |
Ala121Ala |
M0040259 |
EKOKHOOJ_00006 |
4365 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
747C>T |
Tyr249Tyr |
M0040260 |
EKOKHOOJ_00007 |
5310 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
526G>A |
Asp176Asn |
M0040261 |
EKOKHOOJ_00007 |
5312 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
524C>A |
Pro175His |
M0040262 |
EKOKHOOJ_00007 |
5578 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
258A>G |
Gln86Gln |
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 |
EKOKHOOJ_00002 |
VFG050757 |
T2SS |
73.5 |
2.5e-205 |
28 |
525 |
0.9432 |
1.004 |
Effector delivery system |
general secretion pathway protein E |
experiment |
EKOKHOOJ_00002 |
VFG050755 |
T2SS |
73.5 |
8.3e-205 |
28 |
525 |
0.9432 |
1.004 |
Effector delivery system |
general secretion pathway protein E |
prediction |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
Gene Name |
cazy_id |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
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 |