Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2355 |
Reference Plasmid |
1111525849767596_bin.21__k141_61179 |
Reference Plasmid Size |
19043 |
Reference Plasmid GC Content |
0.45 |
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 |
M0040263 |
KHCCEDAN_00010 |
11612 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
898T>G |
Ser300Ala |
M0040264 |
KHCCEDAN_00010 |
11615 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
901G>A |
Gly301Ser |
M0040265 |
KHCCEDAN_00010 |
11620 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
906T>C |
Ile302Ile |
M0040266 |
KHCCEDAN_00010 |
11653 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
939G>A |
Lys313Lys |
M0040267 |
KHCCEDAN_00010 |
11866 |
9 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1152C>T |
Ala384Ala |
M0040268 |
KHCCEDAN_00010 |
11868 |
10 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1154G>C |
Ser385Thr |
M0040269 |
KHCCEDAN_00010 |
11920 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1206G>T |
Glu402Asp |
M0040270 |
KHCCEDAN_00010 |
11959 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1245A>G |
Leu415Leu |
M0040271 |
KHCCEDAN_00010 |
11962 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1248G>A |
Ala416Ala |
M0040272 |
KHCCEDAN_00010 |
11965 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1251G>A |
Ala417Ala |
M0040273 |
KHCCEDAN_00010 |
12010 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1296G>A |
Glu432Glu |
M0040274 |
KHCCEDAN_00010 |
12013 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1299G>A |
Gly433Gly |
M0040275 |
KHCCEDAN_00010 |
12043 |
9 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1329C>A |
Thr443Thr |
M0040276 |
KHCCEDAN_00010 |
12082 |
20 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1368C>G |
Val456Val |
M0040277 |
KHCCEDAN_00010 |
12085 |
20 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1371A>G |
Lys457Lys |
M0040278 |
KHCCEDAN_00010 |
12091 |
25 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1377C>A |
Ser459Ser |
M0040279 |
KHCCEDAN_00010 |
12094 |
25 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1380T>C |
Gly460Gly |
M0040280 |
KHCCEDAN_00010 |
12097 |
25 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1383C>T |
Phe461Phe |
M0040281 |
KHCCEDAN_00010 |
12127 |
14 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1413C>A |
Asp471Glu |
M0040282 |
KHCCEDAN_00010 |
12130 |
22 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1416A>C |
Glu472Asp |
M0040283 |
KHCCEDAN_00014 |
12186 |
29 |
Skin |
0.36 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3536A>G |
None |
M0040284 |
KHCCEDAN_00014 |
12232 |
30 |
Skin |
0.37 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3490G>T |
None |
M0040285 |
KHCCEDAN_00014 |
12257 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3465C>T |
None |
M0040286 |
KHCCEDAN_00014 |
12323 |
53 |
Skin |
0.65 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3399C>T |
None |
M0040287 |
KHCCEDAN_00014 |
12335 |
48 |
Skin |
0.59 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3387A>C |
None |
M0040288 |
KHCCEDAN_00014 |
12337 |
37 |
Skin |
0.46 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3385C>G |
None |
M0040289 |
KHCCEDAN_00014 |
12344 |
36 |
Skin |
0.44 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3378T>C |
None |
M0040290 |
KHCCEDAN_00014 |
12372 |
49 |
Skin |
0.60 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3350T>A |
None |
M0040291 |
KHCCEDAN_00014 |
12378 |
53 |
Skin |
0.65 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3344G>T |
None |
M0040292 |
KHCCEDAN_00014 |
12399 |
35 |
Skin |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3323C>T |
None |
M0040293 |
KHCCEDAN_00011 |
12522 |
52 |
Skin |
0.64 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Ile132Ile |
M0040294 |
KHCCEDAN_00011 |
12676 |
23 |
Skin |
0.28 |
protein_coding |
missense_variant |
MODERATE |
242C>A |
Ala81Glu |
M0040295 |
KHCCEDAN_00011 |
12740 |
31 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
178A>T |
Asn60Tyr |
M0040296 |
KHCCEDAN_00011 |
12768 |
28 |
Skin |
0.35 |
protein_coding |
synonymous_variant |
LOW |
150C>T |
Cys50Cys |
M0040297 |
KHCCEDAN_00011 |
12837 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
81G>A |
Ala27Ala |
M0040298 |
KHCCEDAN_00012 |
13235 |
25 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
759A>G |
Glu253Glu |
M0040299 |
KHCCEDAN_00012 |
13238 |
25 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
756A>G |
Leu252Leu |
M0040300 |
KHCCEDAN_00012 |
13370 |
31 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
624T>C |
Thr208Thr |
M0040301 |
KHCCEDAN_00012 |
13451 |
47 |
Skin |
0.58 |
protein_coding |
synonymous_variant |
LOW |
543T>C |
Ala181Ala |
M0040302 |
KHCCEDAN_00012 |
13493 |
28 |
Skin |
0.35 |
protein_coding |
synonymous_variant |
LOW |
501G>C |
Leu167Leu |
M0040303 |
KHCCEDAN_00012 |
13511 |
54 |
Skin |
0.67 |
protein_coding |
synonymous_variant |
LOW |
483T>C |
Asn161Asn |
M0040304 |
KHCCEDAN_00012 |
13519 |
29 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
475C>A |
Leu159Ile |
M0040305 |
KHCCEDAN_00012 |
13520 |
30 |
Skin |
0.37 |
protein_coding |
synonymous_variant |
LOW |
474C>A |
Thr158Thr |
M0040306 |
KHCCEDAN_00012 |
13521 |
31 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
473C>A |
Thr158Asn |
M0040307 |
KHCCEDAN_00012 |
13541 |
35 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
453A>G |
Lys151Lys |
M0040308 |
KHCCEDAN_00012 |
13574 |
39 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
420G>C |
Thr140Thr |
M0040309 |
KHCCEDAN_00012 |
13595 |
33 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
399C>A |
Gly133Gly |
M0040310 |
KHCCEDAN_00012 |
13619 |
60 |
Skin |
0.74 |
protein_coding |
synonymous_variant |
LOW |
375G>A |
Lys125Lys |
M0040311 |
KHCCEDAN_00012 |
13625 |
53 |
Skin |
0.65 |
protein_coding |
synonymous_variant |
LOW |
369G>A |
Thr123Thr |
M0040312 |
KHCCEDAN_00012 |
13706 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
288C>G |
Ala96Ala |
M0040313 |
KHCCEDAN_00012 |
13802 |
9 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
192G>A |
Gln64Gln |
M0040314 |
KHCCEDAN_00012 |
13817 |
52 |
Skin |
0.64 |
protein_coding |
synonymous_variant |
LOW |
177C>G |
Val59Val |
M0040315 |
KHCCEDAN_00012 |
13835 |
49 |
Skin |
0.60 |
protein_coding |
synonymous_variant |
LOW |
159A>G |
Ala53Ala |
M0040316 |
KHCCEDAN_00012 |
13840 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
154C>T |
Leu52Leu |
M0040317 |
KHCCEDAN_00012 |
13889 |
39 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
105G>C |
Ala35Ala |
M0040318 |
KHCCEDAN_00012 |
13934 |
8 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
60T>C |
Ala20Ala |
M0040319 |
KHCCEDAN_00011 |
14006 |
30 |
Skin |
0.37 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1089T>C |
None |
M0040320 |
KHCCEDAN_00011 |
14013 |
51 |
Skin |
0.63 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1096C>A |
None |
M0040321 |
KHCCEDAN_00011 |
14016 |
48 |
Skin |
0.59 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1099G>A |
None |
M0040322 |
KHCCEDAN_00013 |
14095 |
40 |
Skin |
0.49 |
protein_coding |
synonymous_variant |
LOW |
954T>C |
Asn318Asn |
M0040323 |
KHCCEDAN_00013 |
14104 |
41 |
Skin |
0.51 |
protein_coding |
synonymous_variant |
LOW |
945A>G |
Leu315Leu |
M0040324 |
KHCCEDAN_00013 |
14113 |
46 |
Skin |
0.57 |
protein_coding |
synonymous_variant |
LOW |
936C>T |
Tyr312Tyr |
M0040325 |
KHCCEDAN_00013 |
14311 |
39 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
738A>G |
Thr246Thr |
M0040326 |
KHCCEDAN_00013 |
14368 |
50 |
Skin |
0.62 |
protein_coding |
synonymous_variant |
LOW |
681A>G |
Ala227Ala |
M0040327 |
KHCCEDAN_00013 |
14380 |
56 |
Skin |
0.69 |
protein_coding |
synonymous_variant |
LOW |
669A>G |
Val223Val |
M0040328 |
KHCCEDAN_00013 |
14392 |
62 |
Skin |
0.77 |
protein_coding |
synonymous_variant |
LOW |
657A>G |
Pro219Pro |
M0040329 |
KHCCEDAN_00013 |
14416 |
40 |
Skin |
0.49 |
protein_coding |
synonymous_variant |
LOW |
633G>T |
Gly211Gly |
M0040330 |
KHCCEDAN_00013 |
14440 |
47 |
Skin |
0.58 |
protein_coding |
synonymous_variant |
LOW |
609A>G |
Thr203Thr |
M0040331 |
KHCCEDAN_00013 |
14471 |
26 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
578C>T |
Thr193Ile |
M0040332 |
KHCCEDAN_00013 |
14482 |
24 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
567G>A |
Pro189Pro |
M0040333 |
KHCCEDAN_00013 |
14506 |
41 |
Skin |
0.51 |
protein_coding |
synonymous_variant |
LOW |
543C>T |
Tyr181Tyr |
M0040334 |
KHCCEDAN_00013 |
14509 |
41 |
Skin |
0.51 |
protein_coding |
synonymous_variant |
LOW |
540C>T |
Thr180Thr |
M0040335 |
KHCCEDAN_00013 |
14515 |
40 |
Skin |
0.49 |
protein_coding |
synonymous_variant |
LOW |
534T>C |
Thr178Thr |
M0040336 |
KHCCEDAN_00013 |
14545 |
63 |
Skin |
0.78 |
protein_coding |
synonymous_variant |
LOW |
504A>C |
Pro168Pro |
M0040337 |
KHCCEDAN_00013 |
14713 |
57 |
Skin |
0.70 |
protein_coding |
synonymous_variant |
LOW |
336G>T |
Gly112Gly |
M0040338 |
KHCCEDAN_00013 |
14743 |
59 |
Skin |
0.73 |
protein_coding |
synonymous_variant |
LOW |
306A>G |
Gln102Gln |
M0040339 |
KHCCEDAN_00013 |
14785 |
52 |
Skin |
0.64 |
protein_coding |
synonymous_variant |
LOW |
264C>T |
Phe88Phe |
M0040340 |
KHCCEDAN_00013 |
14791 |
27 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
258T>C |
Asp86Asp |
M0040341 |
KHCCEDAN_00013 |
14795 |
8 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
254A>G |
Lys85Arg |
M0040342 |
KHCCEDAN_00013 |
14796 |
8 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
253A>G |
Lys85Glu |
M0040343 |
KHCCEDAN_00013 |
14797 |
17 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
252C>G |
Thr84Thr |
M0040344 |
KHCCEDAN_00013 |
14830 |
48 |
Skin |
0.59 |
protein_coding |
synonymous_variant |
LOW |
219G>A |
Glu73Glu |
M0040345 |
KHCCEDAN_00013 |
14857 |
13 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
192T>G |
Thr64Thr |
M0040346 |
KHCCEDAN_00013 |
14894 |
49 |
Skin |
0.60 |
protein_coding |
missense_variant |
MODERATE |
155G>A |
Arg52His |
M0040347 |
KHCCEDAN_00013 |
14931 |
19 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
118G>C |
Glu40Gln |
M0040348 |
KHCCEDAN_00013 |
14947 |
59 |
Skin |
0.73 |
protein_coding |
synonymous_variant |
LOW |
102G>A |
Ala34Ala |
M0040349 |
KHCCEDAN_00013 |
14998 |
44 |
Skin |
0.54 |
protein_coding |
synonymous_variant |
LOW |
51T>C |
Asn17Asn |
M0040350 |
KHCCEDAN_00013 |
15014 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
35T>C |
Ile12Thr |
M0040351 |
KHCCEDAN_00011 |
15066 |
18 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2149A>G |
None |
M0040352 |
KHCCEDAN_00011 |
15070 |
47 |
Skin |
0.58 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2153T>G |
None |
M0040353 |
KHCCEDAN_00012 |
13865 |
14 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
129G>A |
Ala43Ala |
M0040354 |
KHCCEDAN_00012 |
13891 |
8 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
103G>A |
Ala35Thr |
M0040355 |
KHCCEDAN_00012 |
13946 |
20 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
48A>C |
Pro16Pro |
M0040356 |
KHCCEDAN_00012 |
13952 |
14 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
42T>C |
Pro14Pro |
M0040357 |
KHCCEDAN_00012 |
13955 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
39G>A |
Leu13Leu |
M0040358 |
KHCCEDAN_00011 |
14019 |
12 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1102G>A |
None |
M0040359 |
KHCCEDAN_00013 |
14097 |
10 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
952A>G |
Asn318Asp |
M0040360 |
KHCCEDAN_00013 |
14170 |
28 |
Skin |
0.35 |
protein_coding |
synonymous_variant |
LOW |
879T>C |
Arg293Arg |
M0040361 |
KHCCEDAN_00013 |
14173 |
27 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
876A>G |
Glu292Glu |
M0040362 |
KHCCEDAN_00013 |
14501 |
16 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
548G>A |
Arg183Gln |
M0040363 |
KHCCEDAN_00013 |
14521 |
10 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
528G>A |
Ser176Ser |
M0040364 |
KHCCEDAN_00013 |
14524 |
14 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
525A>G |
Val175Val |
M0040365 |
KHCCEDAN_00013 |
14583 |
36 |
Skin |
0.44 |
protein_coding |
synonymous_variant |
LOW |
466C>T |
Leu156Leu |
M0040366 |
KHCCEDAN_00013 |
14590 |
20 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
459T>G |
Asp153Glu |
M0040367 |
KHCCEDAN_00013 |
14620 |
42 |
Skin |
0.52 |
protein_coding |
synonymous_variant |
LOW |
429G>C |
Arg143Arg |
M0040368 |
KHCCEDAN_00013 |
14719 |
33 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
330T>C |
Ile110Ile |
M0040369 |
KHCCEDAN_00013 |
14832 |
11 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
217G>A |
Glu73Lys |
M0040370 |
KHCCEDAN_00013 |
14908 |
10 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
141G>A |
Leu47Leu |
M0040371 |
KHCCEDAN_00011 |
15081 |
9 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2164A>T |
None |
M0040372 |
KHCCEDAN_00011 |
15315 |
17 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2398T>C |
None |
M0040373 |
KHCCEDAN_00011 |
15322 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2405G>C |
None |
M0040374 |
KHCCEDAN_00011 |
15422 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2505C>T |
None |
M0040375 |
KHCCEDAN_00011 |
15454 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2537T>G |
None |
M0040376 |
KHCCEDAN_00011 |
15482 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2565G>A |
None |
M0040377 |
KHCCEDAN_00011 |
15694 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2777T>G |
None |
M0040378 |
KHCCEDAN_00014 |
16050 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
329C>T |
Pro110Leu |
M0040379 |
KHCCEDAN_00014 |
16077 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
356A>G |
Asn119Ser |
M0040380 |
KHCCEDAN_00014 |
16143 |
9 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
422T>C |
Leu141Pro |
M0040381 |
KHCCEDAN_00014 |
16215 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
494A>C |
Gln165Pro |
M0040382 |
KHCCEDAN_00014 |
16270 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
549G>A |
Ala183Ala |
M0040383 |
KHCCEDAN_00014 |
16293 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
572T>C |
Leu191Ser |
M0040384 |
KHCCEDAN_00014 |
16297 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
576T>C |
Asn192Asn |
M0040385 |
KHCCEDAN_00014 |
16299 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
578A>C |
Asn193Thr |
M0040386 |
KHCCEDAN_00014 |
16318 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
597G>A |
Gln199Gln |
M0040387 |
KHCCEDAN_00014 |
16319 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
598T>C |
Ser200Pro |
M0040388 |
KHCCEDAN_00014 |
16717 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
996G>A |
Lys332Lys |
M0040389 |
KHCCEDAN_00014 |
16763 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1042A>G |
Thr348Ala |
M0040390 |
KHCCEDAN_00011 |
16830 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3913G>A |
None |
M0040391 |
KHCCEDAN_00011 |
16832 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3915G>T |
None |
M0040392 |
KHCCEDAN_00011 |
16843 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3926C>G |
None |
M0040393 |
KHCCEDAN_00011 |
16875 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3958C>T |
None |
M0040394 |
KHCCEDAN_00011 |
16957 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4040T>C |
None |
M0040395 |
KHCCEDAN_00011 |
16961 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4044T>C |
None |
M0040396 |
KHCCEDAN_00015 |
17011 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1467C>T |
Asp489Asp |
M0040397 |
KHCCEDAN_00015 |
17041 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1437T>C |
Pro479Pro |
M0040398 |
KHCCEDAN_00015 |
17050 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1428G>A |
Ala476Ala |
M0040399 |
KHCCEDAN_00015 |
17083 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1395T>C |
Gly465Gly |
M0040400 |
KHCCEDAN_00015 |
17146 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1332C>T |
Gly444Gly |
M0040401 |
KHCCEDAN_00015 |
17473 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1005C>T |
Asn335Asn |
M0040402 |
KHCCEDAN_00015 |
17515 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
963T>C |
Thr321Thr |
M0040403 |
KHCCEDAN_00015 |
17641 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
837T>C |
His279His |
M0040404 |
KHCCEDAN_00015 |
17692 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
786T>C |
Asn262Asn |
M0040405 |
KHCCEDAN_00015 |
17724 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
754T>C |
Leu252Leu |
M0040406 |
KHCCEDAN_00015 |
17755 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
723T>C |
Asn241Asn |
M0040407 |
KHCCEDAN_00015 |
17761 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
717T>A |
Ala239Ala |
M0040408 |
KHCCEDAN_00015 |
17770 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
708C>T |
Val236Val |
M0040409 |
KHCCEDAN_00015 |
17782 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
696C>T |
Asn232Asn |
M0040410 |
KHCCEDAN_00015 |
17794 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
684A>G |
Ala228Ala |
M0040411 |
KHCCEDAN_00015 |
17830 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
648C>T |
Gly216Gly |
M0040412 |
KHCCEDAN_00015 |
17902 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
576A>G |
Ala192Ala |
M0040413 |
KHCCEDAN_00015 |
18027 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
451G>A |
Ala151Thr |
M0040414 |
KHCCEDAN_00015 |
18028 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
450T>C |
Ala150Ala |
M0040415 |
KHCCEDAN_00015 |
18043 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
435C>G |
Leu145Leu |
M0040416 |
KHCCEDAN_00015 |
18048 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
430C>G |
Pro144Ala |
M0040417 |
KHCCEDAN_00015 |
18173 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
305A>T |
Tyr102Phe |
M0040418 |
KHCCEDAN_00015 |
18238 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
240T>G |
Asp80Glu |
M0040419 |
KHCCEDAN_00015 |
18241 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
237C>A |
Ala79Ala |
M0040420 |
KHCCEDAN_00015 |
18270 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
208A>G |
Thr70Ala |
M0040421 |
KHCCEDAN_00015 |
18295 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
183C>G |
Asn61Lys |
M0040422 |
KHCCEDAN_00015 |
18299 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
179A>C |
Lys60Thr |
M0040423 |
KHCCEDAN_00015 |
18300 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
178A>G |
Lys60Glu |
M0040424 |
KHCCEDAN_00015 |
18326 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
152A>C |
Asn51Thr |
M0040425 |
KHCCEDAN_00015 |
18327 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
151A>G |
Asn51Asp |
M0040426 |
KHCCEDAN_00015 |
18328 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
150T>C |
Ile50Ile |
M0040427 |
KHCCEDAN_00015 |
18343 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
135G>T |
Val45Val |
M0040428 |
KHCCEDAN_00015 |
18406 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
72A>C |
Ala24Ala |
M0040429 |
KHCCEDAN_00012 |
13019 |
8 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
975G>A |
Lys325Lys |
M0040430 |
KHCCEDAN_00012 |
13023 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
971G>C |
Gly324Ala |
M0040431 |
KHCCEDAN_00012 |
13036 |
27 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
958G>C |
Asp320His |
M0040432 |
KHCCEDAN_00012 |
13084 |
19 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
910A>G |
Lys304Glu |
M0040433 |
KHCCEDAN_00012 |
13085 |
11 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
909C>T |
Ala303Ala |
M0040434 |
KHCCEDAN_00012 |
13119 |
16 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
875A>C |
Glu292Ala |
M0040435 |
KHCCEDAN_00012 |
13130 |
19 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
864A>G |
Glu288Glu |
M0040436 |
KHCCEDAN_00012 |
13292 |
12 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
702G>A |
Gln234Gln |
M0040437 |
KHCCEDAN_00012 |
13415 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
579C>T |
Gly193Gly |
M0040438 |
KHCCEDAN_00012 |
13478 |
38 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
516C>T |
Val172Val |
M0040439 |
KHCCEDAN_00012 |
13688 |
15 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
306G>A |
Val102Val |
M0040440 |
KHCCEDAN_00013 |
14111 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
938A>G |
Gln313Arg |
M0040441 |
KHCCEDAN_00013 |
14161 |
8 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
888G>A |
Leu296Leu |
M0040442 |
KHCCEDAN_00013 |
14236 |
15 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
813T>C |
Ser271Ser |
M0040443 |
KHCCEDAN_00013 |
14252 |
8 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
797G>C |
Ser266Thr |
M0040444 |
KHCCEDAN_00013 |
14281 |
15 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
768C>T |
Ile256Ile |
M0040445 |
KHCCEDAN_00013 |
14313 |
21 |
Skin |
0.26 |
protein_coding |
missense_variant |
MODERATE |
736A>G |
Thr246Ala |
M0040446 |
KHCCEDAN_00013 |
14317 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
732C>T |
Ile244Ile |
M0040447 |
KHCCEDAN_00013 |
14341 |
25 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
708C>T |
Asn236Asn |
M0040448 |
KHCCEDAN_00013 |
14377 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
672A>G |
Ala224Ala |
M0040449 |
KHCCEDAN_00013 |
14497 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
552T>C |
Thr184Thr |
M0040450 |
KHCCEDAN_00013 |
14530 |
21 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
519G>C |
Leu173Leu |
M0040451 |
KHCCEDAN_00013 |
14602 |
14 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
447T>C |
Gly149Gly |
M0040452 |
KHCCEDAN_00013 |
14817 |
15 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
232C>A |
His78Asn |
M0040453 |
KHCCEDAN_00013 |
14824 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
225A>C |
Val75Val |
M0040454 |
KHCCEDAN_00011 |
15056 |
9 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2139T>C |
None |
M0040455 |
KHCCEDAN_00011 |
15119 |
14 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2202C>A |
None |
M0040456 |
KHCCEDAN_00011 |
15153 |
30 |
Skin |
0.37 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2236A>C |
None |
M0040457 |
KHCCEDAN_00011 |
15154 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2237T>G |
None |
M0040458 |
KHCCEDAN_00011 |
15187 |
30 |
Skin |
0.37 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2270T>C |
None |
M0040459 |
KHCCEDAN_00010 |
11707 |
12 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
993G>A |
Pro331Pro |
M0040460 |
KHCCEDAN_00010 |
11710 |
12 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
996C>A |
Leu332Leu |
M0040461 |
KHCCEDAN_00010 |
11713 |
12 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
999C>T |
Ile333Ile |
M0040462 |
KHCCEDAN_00010 |
11716 |
12 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1002C>T |
Asn334Asn |
M0040463 |
KHCCEDAN_00010 |
11717 |
12 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1003C>A |
Gln335Lys |
M0040464 |
KHCCEDAN_00010 |
11721 |
16 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1007G>A |
Gly336Asp |
M0040465 |
KHCCEDAN_00010 |
11722 |
12 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1008T>C |
Gly336Gly |
M0040466 |
KHCCEDAN_00010 |
11725 |
12 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1011A>C |
Ala337Ala |
M0040467 |
KHCCEDAN_00010 |
11726 |
12 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1012C>A |
Leu338Met |
M0040468 |
KHCCEDAN_00014 |
12175 |
8 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3547A>C |
None |
M0040469 |
KHCCEDAN_00014 |
12199 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3523A>G |
None |
M0040470 |
KHCCEDAN_00014 |
12256 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3466G>A |
None |
M0040471 |
KHCCEDAN_00014 |
12307 |
51 |
Skin |
0.63 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3415A>T |
None |
M0040472 |
KHCCEDAN_00014 |
12322 |
39 |
Skin |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3400C>G |
None |
M0040473 |
KHCCEDAN_00011 |
12442 |
22 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
476C>A |
Thr159Lys |
M0040474 |
KHCCEDAN_00011 |
12657 |
23 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
261T>C |
Leu87Leu |
M0040475 |
KHCCEDAN_00011 |
12663 |
20 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
255C>A |
Ser85Ser |
M0040476 |
KHCCEDAN_00011 |
12666 |
8 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
252C>A |
Ala84Ala |
M0040477 |
KHCCEDAN_00011 |
12678 |
16 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Ser80Ser |
M0040478 |
KHCCEDAN_00011 |
12685 |
31 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
233A>C |
Glu78Ala |
M0040479 |
KHCCEDAN_00011 |
12686 |
31 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
232G>C |
Glu78Gln |
M0040480 |
KHCCEDAN_00011 |
12696 |
25 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
222C>T |
Asp74Asp |
M0040481 |
KHCCEDAN_00011 |
12743 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
175G>A |
Glu59Lys |
M0040482 |
KHCCEDAN_00011 |
12790 |
26 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
128A>C |
Asn43Thr |
M0040483 |
KHCCEDAN_00011 |
12895 |
33 |
Skin |
0.41 |
protein_coding |
missense_variant |
MODERATE |
23A>G |
Lys8Arg |
M0040484 |
KHCCEDAN_00012 |
13076 |
8 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
918G>A |
Leu306Leu |
M0040485 |
KHCCEDAN_00012 |
13229 |
8 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
765C>A |
His255Gln |
M0040486 |
KHCCEDAN_00012 |
13343 |
15 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
651T>C |
Gly217Gly |
M0040487 |
KHCCEDAN_00012 |
13491 |
15 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
503A>C |
Glu168Ala |
M0040488 |
KHCCEDAN_00012 |
13601 |
39 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
393A>G |
Leu131Leu |
M0040489 |
KHCCEDAN_00012 |
13603 |
24 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
391C>T |
Leu131Leu |
M0040490 |
KHCCEDAN_00012 |
13604 |
23 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
390G>A |
Ala130Ala |
M0040491 |
KHCCEDAN_00012 |
13637 |
24 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
357A>G |
Leu119Leu |
M0040492 |
KHCCEDAN_00012 |
13643 |
21 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
351G>A |
Lys117Lys |
M0040493 |
KHCCEDAN_00012 |
13654 |
45 |
Skin |
0.56 |
protein_coding |
missense_variant |
MODERATE |
340G>A |
Glu114Lys |
M0040494 |
KHCCEDAN_00012 |
13655 |
45 |
Skin |
0.56 |
protein_coding |
synonymous_variant |
LOW |
339T>G |
Ala113Ala |
M0040495 |
KHCCEDAN_00012 |
13763 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
231A>G |
Leu77Leu |
M0040496 |
KHCCEDAN_00012 |
13765 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
229C>T |
Leu77Leu |
M0040497 |
KHCCEDAN_00013 |
14427 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
622A>G |
Ser208Gly |
M0040498 |
KHCCEDAN_00013 |
14542 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
507G>A |
Pro169Pro |
M0040499 |
KHCCEDAN_00001 |
126 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
96A>G |
Lys32Lys |
M0040500 |
KHCCEDAN_00001 |
158 |
11 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
128G>C |
Ser43Thr |
M0040501 |
KHCCEDAN_00001 |
213 |
8 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
183C>T |
Gly61Gly |
M0040502 |
KHCCEDAN_00002 |
245 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-188C>T |
None |
M0040503 |
KHCCEDAN_00002 |
255 |
10 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-178C>T |
None |
M0040504 |
KHCCEDAN_00002 |
325 |
12 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-108G>T |
None |
M0040505 |
KHCCEDAN_00002 |
381 |
13 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-52G>C |
None |
M0040506 |
KHCCEDAN_00002 |
475 |
8 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
43C>T |
Arg15Trp |
M0040507 |
KHCCEDAN_00002 |
478 |
8 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
46T>C |
Phe16Leu |
M0040508 |
KHCCEDAN_00002 |
547 |
9 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
115G>A |
Ala39Thr |
M0040509 |
KHCCEDAN_00002 |
623 |
10 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
191G>A |
Arg64Gln |
M0040510 |
KHCCEDAN_00003 |
714 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-85C>T |
None |
M0040511 |
KHCCEDAN_00003 |
723 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-76G>T |
None |
M0040512 |
KHCCEDAN_00003 |
726 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-73A>C |
None |
M0040513 |
KHCCEDAN_00003 |
729 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-70G>A |
None |
M0040514 |
KHCCEDAN_00003 |
876 |
12 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
78A>T |
Ala26Ala |
M0040515 |
KHCCEDAN_00003 |
951 |
10 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
153C>A |
Ala51Ala |
M0040516 |
KHCCEDAN_00003 |
1020 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
222G>A |
Thr74Thr |
M0040517 |
KHCCEDAN_00003 |
1024 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
226A>G |
Thr76Ala |
M0040518 |
KHCCEDAN_00003 |
1026 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
228T>C |
Thr76Thr |
M0040519 |
KHCCEDAN_00003 |
1029 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
231T>C |
Arg77Arg |
M0040520 |
KHCCEDAN_00003 |
1080 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
282A>G |
Leu94Leu |
M0040521 |
KHCCEDAN_00003 |
1224 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Leu142Leu |
M0040522 |
KHCCEDAN_00003 |
1245 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
447G>T |
Gly149Gly |
M0040523 |
KHCCEDAN_00003 |
1251 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
453G>A |
Val151Val |
M0040524 |
KHCCEDAN_00003 |
1293 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
495G>A |
Leu165Leu |
M0040525 |
KHCCEDAN_00003 |
1353 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
555C>T |
Arg185Arg |
M0040526 |
KHCCEDAN_00003 |
1611 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
813G>C |
Lys271Asn |
M0040527 |
KHCCEDAN_00003 |
1617 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
819G>A |
Glu273Glu |
M0040528 |
KHCCEDAN_00003 |
1648 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
850G>A |
Val284Ile |
M0040529 |
KHCCEDAN_00003 |
1674 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
876G>A |
Leu292Leu |
M0040530 |
KHCCEDAN_00003 |
1680 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
882G>T |
Ser294Ser |
M0040531 |
KHCCEDAN_00010 |
11887 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1173G>T |
Pro391Pro |
M0040532 |
KHCCEDAN_00010 |
11890 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1176T>C |
Ile392Ile |
M0040533 |
KHCCEDAN_00010 |
11893 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1179G>C |
Ala393Ala |
M0040534 |
KHCCEDAN_00010 |
11896 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1182C>G |
Pro394Pro |
M0040535 |
KHCCEDAN_00010 |
11899 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1185G>A |
Val395Val |
M0040536 |
KHCCEDAN_00010 |
11903 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1189G>A |
Val397Met |
M0040537 |
KHCCEDAN_00010 |
11905 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1191G>T |
Val397Val |
M0040538 |
KHCCEDAN_00010 |
12145 |
8 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1431A>G |
Lys477Lys |
M0040539 |
KHCCEDAN_00011 |
12774 |
16 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
144G>C |
Leu48Leu |
M0040540 |
KHCCEDAN_00012 |
13018 |
15 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
976C>T |
Leu326Leu |
M0040541 |
KHCCEDAN_00012 |
13319 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
675A>G |
Lys225Lys |
M0040542 |
KHCCEDAN_00012 |
13682 |
19 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
312G>T |
Ala104Ala |
M0040543 |
KHCCEDAN_00011 |
12480 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
438C>T |
Gly146Gly |
M0040544 |
KHCCEDAN_00011 |
12580 |
13 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
338T>C |
Val113Ala |
M0040545 |
KHCCEDAN_00011 |
12699 |
20 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
219T>C |
Ala73Ala |
M0040546 |
KHCCEDAN_00012 |
13014 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
980C>T |
Ser327Phe |
M0040547 |
KHCCEDAN_00012 |
13043 |
11 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
951C>A |
Leu317Leu |
M0040548 |
KHCCEDAN_00012 |
13495 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
499C>T |
Leu167Leu |
M0040549 |
KHCCEDAN_00012 |
13523 |
8 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
471C>T |
Ala157Ala |
M0040550 |
KHCCEDAN_00012 |
13547 |
26 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
447C>T |
Arg149Arg |
M0040551 |
KHCCEDAN_00012 |
13598 |
16 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
396T>G |
Pro132Pro |
M0040552 |
KHCCEDAN_00012 |
13649 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
345C>T |
Asp115Asp |
M0040553 |
KHCCEDAN_00012 |
13733 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
261G>A |
Thr87Thr |
M0040554 |
KHCCEDAN_00013 |
14077 |
8 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
972A>C |
Val324Val |
M0040555 |
KHCCEDAN_00013 |
14443 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
606G>A |
Leu202Leu |
M0040556 |
KHCCEDAN_00013 |
14761 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
288C>T |
Thr96Thr |
M0040557 |
KHCCEDAN_00013 |
14809 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
240G>A |
Glu80Glu |
M0040558 |
KHCCEDAN_00013 |
14875 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
174A>G |
Ala58Ala |
M0040559 |
KHCCEDAN_00013 |
14941 |
34 |
Skin |
0.42 |
protein_coding |
synonymous_variant |
LOW |
108T>G |
Gly36Gly |
M0040560 |
KHCCEDAN_00011 |
12735 |
17 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
183C>T |
Phe61Phe |
M0040561 |
KHCCEDAN_00012 |
13265 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
729G>A |
Gln243Gln |
M0040562 |
KHCCEDAN_00012 |
13514 |
16 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
480C>G |
Leu160Leu |
M0040563 |
KHCCEDAN_00013 |
14629 |
11 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
420G>A |
Val140Val |
M0040564 |
KHCCEDAN_00011 |
12919 |
13 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2C>T |
None |
M0040565 |
KHCCEDAN_00012 |
13075 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
919T>C |
Tyr307His |
M0040566 |
KHCCEDAN_00012 |
13129 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
865C>G |
Gln289Glu |
M0040567 |
KHCCEDAN_00012 |
13892 |
9 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
102C>T |
Ser34Ser |
M0040568 |
KHCCEDAN_00013 |
14516 |
8 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
533C>A |
Thr178Asn |
M0040569 |
KHCCEDAN_00011 |
15252 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2335C>A |
None |
M0040570 |
KHCCEDAN_00014 |
16568 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
847C>A |
Arg283Arg |
M0040571 |
KHCCEDAN_00014 |
16573 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
852T>C |
Pro284Pro |
M0040572 |
KHCCEDAN_00014 |
16600 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
879G>C |
Ser293Ser |
M0040573 |
KHCCEDAN_00011 |
16929 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4012T>C |
None |
M0040574 |
KHCCEDAN_00015 |
16989 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1489G>C |
Val497Leu |
M0040575 |
KHCCEDAN_00015 |
16990 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1488C>T |
Gly496Gly |
M0040576 |
KHCCEDAN_00015 |
17500 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
978T>C |
Ile326Ile |
M0040577 |
KHCCEDAN_00015 |
17827 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
651C>A |
Thr217Thr |
M0040578 |
KHCCEDAN_00015 |
18046 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
432A>G |
Pro144Pro |
M0040579 |
KHCCEDAN_00015 |
18059 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
419A>G |
Asn140Ser |
M0040580 |
KHCCEDAN_00015 |
18070 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
408A>G |
Ala136Ala |
M0040581 |
KHCCEDAN_00001 |
201 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
171C>T |
Ile57Ile |
M0040582 |
KHCCEDAN_00001 |
214 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
184A>G |
Asn62Asp |
M0040583 |
KHCCEDAN_00002 |
300 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-133T>C |
None |
M0040584 |
KHCCEDAN_00002 |
392 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-41G>T |
None |
M0040585 |
KHCCEDAN_00003 |
861 |
10 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
63G>A |
Lys21Lys |
M0040586 |
KHCCEDAN_00003 |
863 |
10 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
65A>T |
Tyr22Phe |
M0040587 |
KHCCEDAN_00003 |
873 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
75G>C |
Gly25Gly |
M0040588 |
KHCCEDAN_00003 |
945 |
8 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
147C>A |
Pro49Pro |
M0040589 |
KHCCEDAN_00003 |
1179 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
381G>T |
Val127Val |
M0040590 |
KHCCEDAN_00003 |
1281 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
483C>T |
Asn161Asn |
M0040591 |
KHCCEDAN_00010 |
12100 |
10 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1386G>T |
Gly462Gly |
M0040592 |
KHCCEDAN_00014 |
12209 |
9 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3513T>G |
None |
M0040593 |
KHCCEDAN_00014 |
12212 |
11 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3510C>G |
None |
M0040594 |
KHCCEDAN_00014 |
12213 |
11 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3509C>G |
None |
M0040595 |
KHCCEDAN_00014 |
12222 |
8 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3500T>G |
None |
M0040596 |
KHCCEDAN_00014 |
12224 |
8 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3498A>C |
None |
M0040597 |
KHCCEDAN_00014 |
12265 |
15 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3457G>A |
None |
M0040598 |
KHCCEDAN_00014 |
12382 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3340T>G |
None |
M0040599 |
KHCCEDAN_00013 |
14434 |
12 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
615G>A |
Glu205Glu |
M0040600 |
KHCCEDAN_00013 |
14566 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
483T>C |
Tyr161Tyr |
M0040601 |
KHCCEDAN_00013 |
14749 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
300C>T |
Asp100Asp |
M0040602 |
KHCCEDAN_00014 |
12350 |
15 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3372T>C |
None |
M0040603 |
KHCCEDAN_00014 |
12381 |
15 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3341A>G |
None |
M0040604 |
KHCCEDAN_00011 |
12429 |
15 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
489T>A |
Asp163Glu |
M0040605 |
KHCCEDAN_00011 |
12474 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
444G>A |
Val148Val |
M0040606 |
KHCCEDAN_00011 |
12495 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
423C>T |
Gly141Gly |
M0040607 |
KHCCEDAN_00013 |
14125 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
924T>C |
Phe308Phe |
M0040608 |
KHCCEDAN_00013 |
14231 |
9 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
818A>G |
Gln273Arg |
M0040609 |
KHCCEDAN_00013 |
14353 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
696T>G |
Gly232Gly |
M0040610 |
KHCCEDAN_00010 |
12055 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1341C>A |
Ser447Ser |
M0040611 |
KHCCEDAN_00010 |
12058 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1344G>C |
Thr448Thr |
M0040612 |
KHCCEDAN_00010 |
12061 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1347G>A |
Glu449Glu |
M0040613 |
KHCCEDAN_00010 |
12064 |
8 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1350C>T |
Val450Val |
M0040614 |
KHCCEDAN_00010 |
12079 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1365T>G |
Gly455Gly |
M0040615 |
KHCCEDAN_00010 |
12088 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1374A>G |
Gln458Gln |
M0040616 |
KHCCEDAN_00014 |
12290 |
8 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3432C>T |
None |
M0040617 |
KHCCEDAN_00013 |
14803 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
246G>T |
Ala82Ala |
M0040618 |
KHCCEDAN_00013 |
14804 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
245C>T |
Ala82Val |
M0040619 |
KHCCEDAN_00013 |
14806 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
243A>T |
Ile81Ile |
M0040620 |
KHCCEDAN_00015 |
17748 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
730A>G |
Ile244Val |
M0040621 |
KHCCEDAN_00015 |
17929 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
549G>C |
Ala183Ala |
M0040622 |
KHCCEDAN_00015 |
18112 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
366A>C |
Ala122Ala |
M0040623 |
KHCCEDAN_00015 |
18178 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
300G>C |
Gly100Gly |
M0040624 |
KHCCEDAN_00015 |
18214 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
264C>G |
Gly88Gly |
M0040625 |
KHCCEDAN_00015 |
18220 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Asn86Asn |
M0040626 |
KHCCEDAN_00015 |
18320 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
158C>A |
Thr53Lys |
M0040627 |
KHCCEDAN_00012 |
18506 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4513A>G |
None |
M0040628 |
KHCCEDAN_00012 |
18527 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4534A>G |
None |
M0040629 |
KHCCEDAN_00012 |
18539 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4546T>C |
None |
M0040630 |
KHCCEDAN_00012 |
18571 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4578C>G |
None |
M0040631 |
KHCCEDAN_00012 |
18574 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4581A>G |
None |
M0040632 |
KHCCEDAN_00012 |
18577 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4584C>A |
None |
M0040633 |
KHCCEDAN_00012 |
18578 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4585A>G |
None |
M0040634 |
KHCCEDAN_00012 |
18612 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4619C>T |
None |
M0040635 |
KHCCEDAN_00012 |
18656 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4663T>C |
None |
M0040636 |
KHCCEDAN_00016 |
18741 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
204C>T |
Ile68Ile |
M0040637 |
KHCCEDAN_00016 |
18837 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
108C>T |
His36His |
M0040638 |
KHCCEDAN_00002 |
342 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-91T>C |
None |
M0040639 |
KHCCEDAN_00002 |
600 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
168C>T |
Thr56Thr |
M0040640 |
KHCCEDAN_00003 |
775 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-24G>A |
None |
M0040641 |
KHCCEDAN_00003 |
779 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-20C>T |
None |
M0040642 |
KHCCEDAN_00003 |
780 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-19C>A |
None |
M0040643 |
KHCCEDAN_00003 |
791 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-8A>C |
None |
M0040644 |
KHCCEDAN_00003 |
817 |
8 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
19T>C |
Tyr7His |
M0040645 |
KHCCEDAN_00003 |
948 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
150C>T |
Ile50Ile |
M0040646 |
KHCCEDAN_00010 |
11995 |
9 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1281G>T |
Ser427Ser |
M0040647 |
KHCCEDAN_00011 |
12427 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
491C>T |
Thr164Met |
M0040648 |
KHCCEDAN_00012 |
12956 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1038G>A |
Leu346Leu |
M0040649 |
KHCCEDAN_00013 |
14083 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
966C>G |
Ser322Ser |
M0040650 |
KHCCEDAN_00011 |
12432 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
486C>T |
Val162Val |
M0040651 |
KHCCEDAN_00011 |
12702 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
216G>T |
Leu72Leu |
M0040652 |
KHCCEDAN_00012 |
13115 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
879G>A |
Thr293Thr |
M0040653 |
KHCCEDAN_00012 |
13901 |
9 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
93G>A |
Leu31Leu |
M0040654 |
KHCCEDAN_00012 |
13988 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
6G>T |
Thr2Thr |
M0040655 |
KHCCEDAN_00013 |
14632 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
417C>T |
Ser139Ser |
M0040656 |
KHCCEDAN_00003 |
1236 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
438T>C |
Ser146Ser |
M0040657 |
KHCCEDAN_00003 |
1266 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
468C>T |
Ala156Ala |
M0040658 |
KHCCEDAN_00003 |
1380 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
582T>C |
Asn194Asn |
M0040659 |
KHCCEDAN_00010 |
11668 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
954A>G |
Lys318Lys |
M0040660 |
KHCCEDAN_00010 |
11932 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1218C>T |
Ala406Ala |
M0040661 |
KHCCEDAN_00012 |
13868 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
126C>T |
Asp42Asp |
M0040662 |
KHCCEDAN_00011 |
15286 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2369C>T |
None |
M0040663 |
KHCCEDAN_00011 |
15341 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2424T>A |
None |
M0040664 |
KHCCEDAN_00011 |
15342 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2425G>C |
None |
M0040665 |
KHCCEDAN_00004 |
1768 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-86C>T |
None |
M0040666 |
KHCCEDAN_00007 |
7430 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
2489T>C |
Ile830Thr |
M0040667 |
KHCCEDAN_00007 |
7431 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2490T>C |
Ile830Ile |
M0040668 |
KHCCEDAN_00010 |
11077 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
363C>T |
Ala121Ala |
M0040669 |
KHCCEDAN_00010 |
11089 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
375A>G |
Lys125Lys |
M0040670 |
KHCCEDAN_00010 |
11101 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
387T>C |
Gly129Gly |
M0040671 |
KHCCEDAN_00010 |
11140 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
426G>C |
Val142Val |
M0040672 |
KHCCEDAN_00010 |
11188 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
474C>T |
Asn158Asn |
M0040673 |
KHCCEDAN_00010 |
11194 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
480T>C |
Pro160Pro |
M0040674 |
KHCCEDAN_00010 |
11221 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
507C>A |
Ala169Ala |
M0040675 |
KHCCEDAN_00010 |
11224 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
510T>G |
Pro170Pro |
M0040676 |
KHCCEDAN_00010 |
11482 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
768G>A |
Glu256Glu |
M0040677 |
KHCCEDAN_00010 |
11485 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
771T>A |
Leu257Leu |
M0040678 |
KHCCEDAN_00010 |
11488 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
774C>G |
Gly258Gly |
M0040679 |
KHCCEDAN_00010 |
11491 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
777C>T |
Gly259Gly |
M0040680 |
KHCCEDAN_00010 |
11497 |
8 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
783A>C |
Ala261Ala |
M0040681 |
KHCCEDAN_00010 |
11500 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
786C>A |
Pro262Pro |
M0040682 |
KHCCEDAN_00010 |
11509 |
8 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
795T>C |
Val265Val |
M0040683 |
KHCCEDAN_00011 |
12931 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-14C>A |
None |
M0040684 |
KHCCEDAN_00012 |
12947 |
9 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1047A>C |
Leu349Leu |
M0040685 |
KHCCEDAN_00012 |
13270 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
724C>A |
Leu242Ile |
M0040686 |
KHCCEDAN_00010 |
11914 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1200C>T |
Ser400Ser |
M0040687 |
KHCCEDAN_00012 |
12968 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1026C>G |
Ala342Ala |
M0040688 |
KHCCEDAN_00012 |
13097 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
897G>A |
Gln299Gln |
M0040689 |
KHCCEDAN_00012 |
13883 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
111C>G |
Val37Val |
M0040690 |
KHCCEDAN_00013 |
14932 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
117C>T |
Arg39Arg |
M0040691 |
KHCCEDAN_00014 |
12387 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3335C>G |
None |
M0040692 |
KHCCEDAN_00011 |
14070 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1153C>T |
None |
M0040693 |
KHCCEDAN_00011 |
15714 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2797A>G |
None |
M0040694 |
KHCCEDAN_00014 |
15742 |
11 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
21C>T |
Ser7Ser |
M0040695 |
KHCCEDAN_00014 |
15913 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
192G>A |
Ser64Ser |
M0040696 |
KHCCEDAN_00014 |
16290 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
569A>G |
Asn190Ser |
M0040697 |
KHCCEDAN_00014 |
16442 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
721C>A |
Gln241Lys |
M0040698 |
KHCCEDAN_00014 |
16514 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
793G>C |
Ala265Pro |
M0040699 |
KHCCEDAN_00014 |
16658 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
937A>C |
Lys313Gln |
M0040700 |
KHCCEDAN_00014 |
16665 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
944A>G |
Asp315Gly |
M0040701 |
KHCCEDAN_00014 |
16704 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
983A>C |
Gln328Pro |
M0040702 |
KHCCEDAN_00014 |
16707 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
986C>A |
Ala329Glu |
M0040703 |
KHCCEDAN_00014 |
16792 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1071C>T |
Gly357Gly |
M0040704 |
KHCCEDAN_00012 |
18711 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4718G>C |
None |
M0040705 |
KHCCEDAN_00012 |
18713 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4720T>C |
None |
M0040706 |
KHCCEDAN_00012 |
18714 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4721C>G |
None |
M0040707 |
KHCCEDAN_00013 |
14732 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
317G>A |
Arg106Gln |
M0040708 |
KHCCEDAN_00014 |
15743 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
22G>C |
Asp8His |
M0040709 |
KHCCEDAN_00014 |
15821 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
100C>T |
Leu34Leu |
M0040710 |
KHCCEDAN_00014 |
15850 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
129A>G |
Lys43Lys |
M0040711 |
KHCCEDAN_00014 |
15859 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
138G>A |
Pro46Pro |
M0040712 |
KHCCEDAN_00014 |
15865 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
144C>T |
Thr48Thr |
M0040713 |
KHCCEDAN_00014 |
15877 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
156A>C |
Leu52Leu |
M0040714 |
KHCCEDAN_00011 |
15668 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2751T>G |
None |
M0040715 |
KHCCEDAN_00011 |
15669 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2752C>G |
None |
M0040716 |
KHCCEDAN_00014 |
16002 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
281G>A |
Gly94Asp |
M0040717 |
KHCCEDAN_00014 |
16313 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
592A>G |
Thr198Ala |
M0040718 |
KHCCEDAN_00014 |
16330 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
609T>G |
Ala203Ala |
M0040719 |
KHCCEDAN_00014 |
16333 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
612T>C |
Thr204Thr |
M0040720 |
KHCCEDAN_00014 |
16569 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
848G>A |
Arg283Gln |
M0040721 |
KHCCEDAN_00010 |
11992 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1278C>T |
Arg426Arg |
M0040722 |
KHCCEDAN_00012 |
12944 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1050A>C |
Ile350Ile |
M0040723 |
KHCCEDAN_00011 |
15528 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2611A>G |
None |
M0040724 |
KHCCEDAN_00015 |
17107 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1371G>A |
Thr457Thr |
M0040725 |
KHCCEDAN_00015 |
17125 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1353G>C |
Gly451Gly |
M0040726 |
KHCCEDAN_00014 |
12233 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3489T>A |
None |
M0040727 |
KHCCEDAN_00014 |
12253 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3469T>G |
None |
M0040728 |
KHCCEDAN_00012 |
13144 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
850A>G |
Ile284Val |
M0040729 |
KHCCEDAN_00014 |
16645 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
924T>C |
Leu308Leu |
M0040730 |
KHCCEDAN_00012 |
12989 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1005C>T |
Leu335Leu |
M0040731 |
KHCCEDAN_00013 |
14643 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
406C>T |
Pro136Ser |
M0040732 |
KHCCEDAN_00011 |
12421 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
497G>A |
Ser166Asn |
M0040733 |
KHCCEDAN_00011 |
14049 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1132A>C |
None |
M0040734 |
KHCCEDAN_00014 |
12345 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3377C>T |
None |
M0040735 |
KHCCEDAN_00014 |
12400 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3322G>T |
None |
M0040736 |
KHCCEDAN_00014 |
12401 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3321G>C |
None |
M0040737 |
KHCCEDAN_00011 |
12433 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
485T>C |
Val162Ala |
M0040738 |
KHCCEDAN_00011 |
12579 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
339G>T |
Val113Val |
M0040739 |
KHCCEDAN_00011 |
12585 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
333C>A |
Ala111Ala |
M0040740 |
KHCCEDAN_00011 |
12606 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
312A>G |
Gln104Gln |
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 |