Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2739 |
Reference Plasmid |
1111525849861803_bin.5__k141_82424 |
Reference Plasmid Size |
17940 |
Reference Plasmid GC Content |
0.33 |
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 |
M0053294 |
GGMHGMKI_00003 |
2832 |
22 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
696C>T |
Ile232Ile |
M0053295 |
GGMHGMKI_00003 |
3039 |
54 |
Skin |
0.37 |
protein_coding |
synonymous_variant |
LOW |
489T>C |
Ser163Ser |
M0053296 |
GGMHGMKI_00003 |
3077 |
40 |
Skin |
0.28 |
protein_coding |
missense_variant |
MODERATE |
451T>G |
Ser151Ala |
M0053297 |
GGMHGMKI_00003 |
3423 |
68 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
105A>G |
Val35Val |
M0053298 |
GGMHGMKI_00002 |
3556 |
37 |
Skin |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1122C>T |
None |
M0053299 |
GGMHGMKI_00002 |
3592 |
37 |
Skin |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1158T>A |
None |
M0053300 |
GGMHGMKI_00004 |
3882 |
40 |
Skin |
0.28 |
protein_coding |
missense_variant |
MODERATE |
172A>G |
Ile58Val |
M0053301 |
GGMHGMKI_00004 |
3907 |
28 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
197A>G |
Asp66Gly |
M0053302 |
GGMHGMKI_00004 |
3981 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
271G>A |
Ala91Thr |
M0053303 |
GGMHGMKI_00004 |
3983 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
273T>A |
Ala91Ala |
M0053304 |
GGMHGMKI_00004 |
3988 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
278T>A |
Phe93Tyr |
M0053305 |
GGMHGMKI_00004 |
3995 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
285T>G |
Asp95Glu |
M0053306 |
GGMHGMKI_00004 |
4037 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
327G>C |
Ala109Ala |
M0053307 |
GGMHGMKI_00004 |
4079 |
41 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
369A>C |
Ser123Ser |
M0053308 |
GGMHGMKI_00004 |
4085 |
19 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
375C>A |
Ala125Ala |
M0053309 |
GGMHGMKI_00004 |
4091 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
381A>G |
Lys127Lys |
M0053310 |
GGMHGMKI_00004 |
4103 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
393G>T |
Val131Val |
M0053311 |
GGMHGMKI_00004 |
4107 |
55 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
397G>A |
Val133Met |
M0053312 |
GGMHGMKI_00004 |
4121 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
411T>C |
Val137Val |
M0053313 |
GGMHGMKI_00004 |
4130 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
420C>T |
Leu140Leu |
M0053314 |
GGMHGMKI_00002 |
4191 |
64 |
Skin |
0.44 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1757G>A |
None |
M0053315 |
GGMHGMKI_00002 |
4203 |
32 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1769G>A |
None |
M0053316 |
GGMHGMKI_00005 |
4264 |
72 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
1545A>C |
Ser515Ser |
M0053317 |
GGMHGMKI_00005 |
4429 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1380A>G |
Lys460Lys |
M0053318 |
GGMHGMKI_00005 |
4561 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1248A>T |
Ala416Ala |
M0053319 |
GGMHGMKI_00005 |
4972 |
39 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
837G>A |
Gly279Gly |
M0053320 |
GGMHGMKI_00005 |
5048 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
761C>T |
Ala254Val |
M0053321 |
GGMHGMKI_00005 |
5098 |
32 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
711A>G |
Gly237Gly |
M0053322 |
GGMHGMKI_00005 |
5656 |
42 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
153C>A |
Ile51Ile |
M0053323 |
GGMHGMKI_00005 |
5663 |
82 |
Skin |
0.57 |
protein_coding |
missense_variant |
MODERATE |
146C>G |
Ala49Gly |
M0053324 |
GGMHGMKI_00006 |
6102 |
41 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
150C>G |
Gly50Gly |
M0053325 |
GGMHGMKI_00006 |
6159 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
207G>A |
Leu69Leu |
M0053326 |
GGMHGMKI_00006 |
6372 |
56 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
420T>G |
Thr140Thr |
M0053327 |
GGMHGMKI_00006 |
6377 |
58 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
425C>A |
Ser142Tyr |
M0053328 |
GGMHGMKI_00006 |
6618 |
65 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
666G>A |
Ser222Ser |
M0053329 |
GGMHGMKI_00006 |
6690 |
65 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
738G>A |
Gln246Gln |
M0053330 |
GGMHGMKI_00005 |
4984 |
30 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
825G>A |
Gly275Gly |
M0053331 |
GGMHGMKI_00005 |
5413 |
29 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Phe132Phe |
M0053332 |
GGMHGMKI_00005 |
5532 |
53 |
Skin |
0.37 |
protein_coding |
synonymous_variant |
LOW |
277A>C |
Arg93Arg |
M0053333 |
GGMHGMKI_00005 |
5710 |
30 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
99C>T |
Asp33Asp |
M0053334 |
GGMHGMKI_00006 |
6152 |
30 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
200T>G |
Phe67Cys |
M0053335 |
GGMHGMKI_00006 |
6196 |
34 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
244G>A |
Val82Ile |
M0053336 |
GGMHGMKI_00006 |
6213 |
22 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
261G>A |
Met87Ile |
M0053337 |
GGMHGMKI_00006 |
6256 |
38 |
Skin |
0.26 |
protein_coding |
missense_variant |
MODERATE |
304G>A |
Val102Ile |
M0053338 |
GGMHGMKI_00002 |
7311 |
77 |
Skin |
0.53 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4877G>A |
None |
M0053339 |
GGMHGMKI_00008 |
7878 |
63 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
537G>A |
Ala179Ala |
M0053340 |
GGMHGMKI_00009 |
8071 |
24 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
75A>G |
Leu25Leu |
M0053341 |
GGMHGMKI_00009 |
8713 |
22 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
717G>A |
Gln239Gln |
M0053342 |
GGMHGMKI_00009 |
8756 |
73 |
Skin |
0.50 |
protein_coding |
missense_variant |
MODERATE |
760T>A |
Ser254Thr |
M0053343 |
GGMHGMKI_00005 |
8778 |
20 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2970G>T |
None |
M0053344 |
GGMHGMKI_00010 |
9328 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
417G>A |
Gly139Gly |
M0053345 |
GGMHGMKI_00010 |
9442 |
53 |
Skin |
0.37 |
protein_coding |
synonymous_variant |
LOW |
531T>A |
Ile177Ile |
M0053346 |
GGMHGMKI_00005 |
10166 |
56 |
Skin |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4358A>G |
None |
M0053347 |
GGMHGMKI_00011 |
10177 |
30 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1352A>G |
Lys451Arg |
M0053348 |
GGMHGMKI_00011 |
10226 |
55 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
1303C>A |
Leu435Met |
M0053349 |
GGMHGMKI_00011 |
10238 |
55 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
1291A>C |
Arg431Arg |
M0053350 |
GGMHGMKI_00011 |
10293 |
35 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1236C>T |
Thr412Thr |
M0053351 |
GGMHGMKI_00011 |
10298 |
34 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1231G>A |
Val411Ile |
M0053352 |
GGMHGMKI_00011 |
10307 |
66 |
Skin |
0.46 |
protein_coding |
missense_variant |
MODERATE |
1222T>C |
Tyr408His |
M0053353 |
GGMHGMKI_00011 |
10329 |
54 |
Skin |
0.37 |
protein_coding |
synonymous_variant |
LOW |
1200T>C |
His400His |
M0053354 |
GGMHGMKI_00011 |
10395 |
49 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
1134T>C |
His378His |
M0053355 |
GGMHGMKI_00011 |
10430 |
64 |
Skin |
0.44 |
protein_coding |
missense_variant |
MODERATE |
1099G>A |
Gly367Ser |
M0053356 |
GGMHGMKI_00011 |
10439 |
22 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1090C>A |
Gln364Lys |
M0053357 |
GGMHGMKI_00011 |
10803 |
36 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
726G>A |
Arg242Arg |
M0053358 |
GGMHGMKI_00011 |
10979 |
17 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
550C>T |
Pro184Ser |
M0053359 |
GGMHGMKI_00011 |
11184 |
59 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
345T>A |
Gly115Gly |
M0053360 |
GGMHGMKI_00011 |
11326 |
58 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
203G>A |
Gly68Asp |
M0053361 |
GGMHGMKI_00011 |
11405 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
124C>T |
Leu42Phe |
M0053362 |
GGMHGMKI_00011 |
11441 |
31 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
88T>C |
Ser30Pro |
M0053363 |
GGMHGMKI_00011 |
11590 |
48 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-62T>C |
None |
M0053364 |
GGMHGMKI_00011 |
11606 |
48 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-78G>C |
None |
M0053365 |
GGMHGMKI_00011 |
11638 |
48 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-110A>G |
None |
M0053366 |
GGMHGMKI_00011 |
11703 |
19 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-175C>T |
None |
M0053367 |
GGMHGMKI_00012 |
12091 |
22 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1434T>C |
Phe478Phe |
M0053368 |
GGMHGMKI_00012 |
12109 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1416C>T |
Tyr472Tyr |
M0053369 |
GGMHGMKI_00012 |
12310 |
33 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1215T>C |
Phe405Phe |
M0053370 |
GGMHGMKI_00012 |
12583 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
942A>G |
Gly314Gly |
M0053371 |
GGMHGMKI_00011 |
13569 |
16 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2041G>T |
None |
M0053372 |
GGMHGMKI_00011 |
13671 |
15 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2143C>T |
None |
M0053373 |
GGMHGMKI_00014 |
14137 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1041C>T |
Gly347Gly |
M0053374 |
GGMHGMKI_00014 |
14485 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
693T>C |
His231His |
M0053375 |
GGMHGMKI_00011 |
15422 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3894T>A |
None |
M0053376 |
GGMHGMKI_00015 |
16692 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1026A>C |
Val342Val |
M0053377 |
GGMHGMKI_00016 |
16949 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
24T>C |
Tyr8Tyr |
M0053378 |
GGMHGMKI_00016 |
17252 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
327T>C |
Ile109Ile |
M0053379 |
GGMHGMKI_00016 |
17438 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
513T>C |
Leu171Leu |
M0053380 |
GGMHGMKI_00012 |
17599 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4075T>G |
None |
M0053381 |
GGMHGMKI_00012 |
17619 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4095C>T |
None |
M0053382 |
GGMHGMKI_00012 |
17655 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4131A>G |
None |
M0053383 |
GGMHGMKI_00012 |
17673 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4149T>A |
None |
M0053384 |
GGMHGMKI_00012 |
17691 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4167G>A |
None |
M0053385 |
GGMHGMKI_00012 |
17835 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4311T>A |
None |
M0053386 |
GGMHGMKI_00007 |
6987 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
121C>T |
His41Tyr |
M0053387 |
GGMHGMKI_00002 |
7071 |
58 |
Skin |
0.40 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4637A>G |
None |
M0053388 |
GGMHGMKI_00002 |
7124 |
55 |
Skin |
0.38 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4690A>C |
None |
M0053389 |
GGMHGMKI_00009 |
8424 |
53 |
Skin |
0.37 |
protein_coding |
missense_variant |
MODERATE |
428A>G |
Lys143Arg |
M0053390 |
GGMHGMKI_00005 |
8787 |
17 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2979G>A |
None |
M0053391 |
GGMHGMKI_00005 |
8834 |
19 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3026T>C |
None |
M0053392 |
GGMHGMKI_00010 |
9110 |
46 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
199T>A |
Ser67Thr |
M0053393 |
GGMHGMKI_00010 |
9178 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
267G>A |
Ala89Ala |
M0053394 |
GGMHGMKI_00010 |
9181 |
51 |
Skin |
0.35 |
protein_coding |
synonymous_variant |
LOW |
270A>T |
Pro90Pro |
M0053395 |
GGMHGMKI_00010 |
9943 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1032C>A |
Ala344Ala |
M0053396 |
GGMHGMKI_00011 |
10877 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
652T>C |
Leu218Leu |
M0053397 |
GGMHGMKI_00011 |
11150 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
379A>T |
Ile127Leu |
M0053398 |
GGMHGMKI_00011 |
11439 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
90A>G |
Ser30Ser |
M0053399 |
GGMHGMKI_00011 |
11489 |
15 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
40T>A |
Leu14Ile |
M0053400 |
GGMHGMKI_00012 |
11917 |
21 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1608G>A |
Lys536Lys |
M0053401 |
GGMHGMKI_00012 |
11947 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1578G>A |
Ala526Ala |
M0053402 |
GGMHGMKI_00012 |
11953 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1572G>A |
Lys524Lys |
M0053403 |
GGMHGMKI_00012 |
11983 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1542G>A |
Thr514Thr |
M0053404 |
GGMHGMKI_00012 |
11989 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1536A>T |
Leu512Leu |
M0053405 |
GGMHGMKI_00012 |
12706 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
819T>C |
His273His |
M0053406 |
GGMHGMKI_00012 |
12718 |
26 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
807C>T |
Ser269Ser |
M0053407 |
GGMHGMKI_00001 |
1227 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-38A>G |
None |
M0053408 |
GGMHGMKI_00001 |
1321 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
57A>G |
Gly19Gly |
M0053409 |
GGMHGMKI_00001 |
1322 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
58C>A |
Gln20Lys |
M0053410 |
GGMHGMKI_00001 |
1354 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
90A>T |
Gly30Gly |
M0053411 |
GGMHGMKI_00001 |
1402 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
138G>A |
Val46Val |
M0053412 |
GGMHGMKI_00001 |
1450 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
Asp62Asp |
M0053413 |
GGMHGMKI_00001 |
1501 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
237A>C |
Glu79Asp |
M0053414 |
GGMHGMKI_00001 |
1534 |
37 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
270T>G |
Ala90Ala |
M0053415 |
GGMHGMKI_00001 |
1540 |
36 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
276T>A |
Val92Val |
M0053416 |
GGMHGMKI_00001 |
1741 |
39 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
477T>C |
Gly159Gly |
M0053417 |
GGMHGMKI_00001 |
1876 |
39 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
612C>A |
Gly204Gly |
M0053418 |
GGMHGMKI_00001 |
1888 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
624A>C |
Arg208Arg |
M0053419 |
GGMHGMKI_00001 |
1945 |
34 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
681C>G |
Gly227Gly |
M0053420 |
GGMHGMKI_00001 |
1957 |
27 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
693C>A |
Ala231Ala |
M0053421 |
GGMHGMKI_00001 |
1969 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
705C>T |
Ser235Ser |
M0053422 |
GGMHGMKI_00001 |
2008 |
31 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
744T>C |
Ile248Ile |
M0053423 |
GGMHGMKI_00004 |
2090 |
13 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1621A>T |
None |
M0053424 |
GGMHGMKI_00004 |
2150 |
24 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1561A>G |
None |
M0053425 |
GGMHGMKI_00004 |
2159 |
24 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1552A>C |
None |
M0053426 |
GGMHGMKI_00004 |
2160 |
24 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1551T>A |
None |
M0053427 |
GGMHGMKI_00004 |
2194 |
18 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1517T>C |
None |
M0053428 |
GGMHGMKI_00004 |
2205 |
18 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1506C>A |
None |
M0053429 |
GGMHGMKI_00004 |
2245 |
30 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1466C>A |
None |
M0053430 |
GGMHGMKI_00002 |
2259 |
25 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
176A>T |
Asn59Ile |
M0053431 |
GGMHGMKI_00002 |
2318 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
117A>T |
Glu39Asp |
M0053432 |
GGMHGMKI_00002 |
2336 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
99C>T |
Ile33Ile |
M0053433 |
GGMHGMKI_00002 |
2422 |
36 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
13A>G |
Ser5Gly |
M0053434 |
GGMHGMKI_00002 |
2425 |
37 |
Skin |
0.26 |
protein_coding |
missense_variant |
MODERATE |
10T>A |
Ser4Thr |
M0053435 |
GGMHGMKI_00002 |
2439 |
15 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-5G>A |
None |
M0053436 |
GGMHGMKI_00003 |
2472 |
40 |
Skin |
0.28 |
protein_coding |
missense_variant |
MODERATE |
1056A>T |
Arg352Ser |
M0053437 |
GGMHGMKI_00003 |
2501 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1027G>A |
Glu343Lys |
M0053438 |
GGMHGMKI_00003 |
2592 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
936G>A |
Thr312Thr |
M0053439 |
GGMHGMKI_00003 |
2667 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
861A>T |
Pro287Pro |
M0053440 |
GGMHGMKI_00003 |
2691 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
837C>T |
Asp279Asp |
M0053441 |
GGMHGMKI_00003 |
2733 |
42 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
795T>C |
Ala265Ala |
M0053442 |
GGMHGMKI_00003 |
2742 |
28 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
786A>G |
Leu262Leu |
M0053443 |
GGMHGMKI_00003 |
2757 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
771T>C |
Gly257Gly |
M0053444 |
GGMHGMKI_00003 |
2763 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
765C>T |
Gly255Gly |
M0053445 |
GGMHGMKI_00003 |
2829 |
30 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
699G>T |
Ala233Ala |
M0053446 |
GGMHGMKI_00003 |
2892 |
27 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
636A>G |
Glu212Glu |
M0053447 |
GGMHGMKI_00003 |
2918 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
610T>C |
Leu204Leu |
M0053448 |
GGMHGMKI_00003 |
2925 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
603C>T |
Asp201Asp |
M0053449 |
GGMHGMKI_00003 |
2943 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
585A>T |
Leu195Leu |
M0053450 |
GGMHGMKI_00003 |
2958 |
20 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
570A>C |
Glu190Asp |
M0053451 |
GGMHGMKI_00003 |
2967 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
561C>T |
Leu187Leu |
M0053452 |
GGMHGMKI_00003 |
2973 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
555T>C |
Cys185Cys |
M0053453 |
GGMHGMKI_00003 |
2982 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
546C>A |
Arg182Arg |
M0053454 |
GGMHGMKI_00003 |
2991 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
537T>C |
Phe179Phe |
M0053455 |
GGMHGMKI_00003 |
2994 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
534T>G |
Ala178Ala |
M0053456 |
GGMHGMKI_00003 |
3003 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
525T>A |
Thr175Thr |
M0053457 |
GGMHGMKI_00003 |
3021 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
507G>C |
Ala169Ala |
M0053458 |
GGMHGMKI_00003 |
3026 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
502T>C |
Leu168Leu |
M0053459 |
GGMHGMKI_00003 |
3027 |
24 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
501T>G |
Ser167Ser |
M0053460 |
GGMHGMKI_00003 |
3033 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
495T>C |
Phe165Phe |
M0053461 |
GGMHGMKI_00003 |
3097 |
15 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
431A>G |
Asn144Ser |
M0053462 |
GGMHGMKI_00003 |
3101 |
19 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
427C>G |
Arg143Gly |
M0053463 |
GGMHGMKI_00003 |
3102 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
426G>A |
Val142Val |
M0053464 |
GGMHGMKI_00003 |
3117 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
Tyr137Tyr |
M0053465 |
GGMHGMKI_00003 |
3138 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
390A>T |
Pro130Pro |
M0053466 |
GGMHGMKI_00003 |
3141 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
387A>G |
Lys129Lys |
M0053467 |
GGMHGMKI_00003 |
3147 |
18 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
381C>T |
Arg127Arg |
M0053468 |
GGMHGMKI_00003 |
3150 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
378A>G |
Glu126Glu |
M0053469 |
GGMHGMKI_00003 |
3156 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
372G>A |
Pro124Pro |
M0053470 |
GGMHGMKI_00003 |
3159 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
369G>A |
Ser123Ser |
M0053471 |
GGMHGMKI_00003 |
3162 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
366C>T |
Leu122Leu |
M0053472 |
GGMHGMKI_00003 |
3168 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
360C>T |
His120His |
M0053473 |
GGMHGMKI_00003 |
3207 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
321C>T |
Gly107Gly |
M0053474 |
GGMHGMKI_00003 |
3211 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
317G>C |
Ser106Thr |
M0053475 |
GGMHGMKI_00003 |
3212 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
316A>T |
Ser106Cys |
M0053476 |
GGMHGMKI_00003 |
3219 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
309T>A |
Thr103Thr |
M0053477 |
GGMHGMKI_00003 |
3261 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
267A>C |
Gly89Gly |
M0053478 |
GGMHGMKI_00003 |
3270 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
258A>C |
Pro86Pro |
M0053479 |
GGMHGMKI_00003 |
3336 |
28 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
192C>T |
Gly64Gly |
M0053480 |
GGMHGMKI_00003 |
3339 |
22 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
189T>C |
Ser63Ser |
M0053481 |
GGMHGMKI_00003 |
3393 |
24 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
135T>A |
Gly45Gly |
M0053482 |
GGMHGMKI_00003 |
3400 |
24 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
128A>G |
Gln43Arg |
M0053483 |
GGMHGMKI_00003 |
3411 |
24 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
117C>T |
Ile39Ile |
M0053484 |
GGMHGMKI_00003 |
3414 |
24 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
114T>G |
Asp38Glu |
M0053485 |
GGMHGMKI_00003 |
3417 |
22 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
111T>C |
Asp37Asp |
M0053486 |
GGMHGMKI_00003 |
3447 |
25 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
81A>G |
Leu27Leu |
M0053487 |
GGMHGMKI_00003 |
3450 |
25 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
78T>A |
Ser26Ser |
M0053488 |
GGMHGMKI_00003 |
3480 |
25 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
48T>C |
Gly16Gly |
M0053489 |
GGMHGMKI_00003 |
3510 |
24 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
18G>A |
Ala6Ala |
M0053490 |
GGMHGMKI_00004 |
3746 |
22 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
36T>G |
Val12Val |
M0053491 |
GGMHGMKI_00004 |
3767 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
57G>A |
Ser19Ser |
M0053492 |
GGMHGMKI_00004 |
3857 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
147T>C |
Val49Val |
M0053493 |
GGMHGMKI_00004 |
3905 |
27 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
195C>T |
Ile65Ile |
M0053494 |
GGMHGMKI_00004 |
3906 |
26 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
196G>A |
Asp66Asn |
M0053495 |
GGMHGMKI_00004 |
3920 |
27 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
210T>G |
Ala70Ala |
M0053496 |
GGMHGMKI_00004 |
3965 |
39 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
255C>A |
Asp85Glu |
M0053497 |
GGMHGMKI_00004 |
3968 |
39 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
258G>T |
Gly86Gly |
M0053498 |
GGMHGMKI_00004 |
3971 |
56 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
261T>C |
Val87Val |
M0053499 |
GGMHGMKI_00004 |
4034 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
324T>G |
Asp108Glu |
M0053500 |
GGMHGMKI_00004 |
4043 |
26 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
333A>C |
Ile111Ile |
M0053501 |
GGMHGMKI_00004 |
4044 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
334G>A |
Asp112Asn |
M0053502 |
GGMHGMKI_00005 |
4300 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1509T>C |
His503His |
M0053503 |
GGMHGMKI_00005 |
4303 |
39 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1506C>T |
Asp502Asp |
M0053504 |
GGMHGMKI_00005 |
4360 |
25 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1449T>A |
Gly483Gly |
M0053505 |
GGMHGMKI_00005 |
4456 |
23 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1353T>C |
Val451Val |
M0053506 |
GGMHGMKI_00005 |
4462 |
23 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1347T>C |
Cys449Cys |
M0053507 |
GGMHGMKI_00005 |
4516 |
28 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1293T>G |
Gly431Gly |
M0053508 |
GGMHGMKI_00005 |
4540 |
25 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1269G>A |
Ala423Ala |
M0053509 |
GGMHGMKI_00005 |
4588 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1221T>C |
Gly407Gly |
M0053510 |
GGMHGMKI_00005 |
4591 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1218C>T |
Ser406Ser |
M0053511 |
GGMHGMKI_00005 |
4609 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1200G>A |
Lys400Lys |
M0053512 |
GGMHGMKI_00005 |
4612 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1197C>T |
Asn399Asn |
M0053513 |
GGMHGMKI_00005 |
4614 |
15 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1195A>G |
Asn399Asp |
M0053514 |
GGMHGMKI_00005 |
4621 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1188C>T |
Gly396Gly |
M0053515 |
GGMHGMKI_00005 |
4669 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1140G>A |
Pro380Pro |
M0053516 |
GGMHGMKI_00005 |
4678 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1131T>A |
Val377Val |
M0053517 |
GGMHGMKI_00005 |
4702 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1107C>T |
Thr369Thr |
M0053518 |
GGMHGMKI_00005 |
4723 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1086T>C |
Gly362Gly |
M0053519 |
GGMHGMKI_00005 |
4729 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1080T>C |
Asp360Asp |
M0053520 |
GGMHGMKI_00005 |
4785 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1024G>A |
Ala342Thr |
M0053521 |
GGMHGMKI_00005 |
5140 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
669T>C |
Gly223Gly |
M0053522 |
GGMHGMKI_00005 |
5146 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
663G>A |
Leu221Leu |
M0053523 |
GGMHGMKI_00005 |
5163 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
646T>C |
Leu216Leu |
M0053524 |
GGMHGMKI_00005 |
5167 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
642T>C |
Gly214Gly |
M0053525 |
GGMHGMKI_00005 |
5176 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
633A>G |
Thr211Thr |
M0053526 |
GGMHGMKI_00005 |
5241 |
18 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
568T>C |
Leu190Leu |
M0053527 |
GGMHGMKI_00005 |
5275 |
30 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
534C>A |
Arg178Arg |
M0053528 |
GGMHGMKI_00005 |
5281 |
32 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
528C>T |
Ile176Ile |
M0053529 |
GGMHGMKI_00005 |
5311 |
22 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
498G>A |
Leu166Leu |
M0053530 |
GGMHGMKI_00005 |
5316 |
22 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
493G>A |
Val165Ile |
M0053531 |
GGMHGMKI_00005 |
5370 |
18 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
439T>C |
Tyr147His |
M0053532 |
GGMHGMKI_00005 |
5455 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
354A>G |
Ala118Ala |
M0053533 |
GGMHGMKI_00005 |
5467 |
19 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
342C>T |
Phe114Phe |
M0053534 |
GGMHGMKI_00005 |
5479 |
23 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
330A>G |
Gln110Gln |
M0053535 |
GGMHGMKI_00005 |
5491 |
32 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
318A>G |
Gly106Gly |
M0053536 |
GGMHGMKI_00005 |
5494 |
32 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
315G>A |
Glu105Glu |
M0053537 |
GGMHGMKI_00005 |
5498 |
32 |
Skin |
0.22 |
protein_coding |
stop_gained |
HIGH |
311T>A |
Leu104* |
M0053538 |
GGMHGMKI_00005 |
5499 |
32 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
310T>G |
Leu104Val |
M0053539 |
GGMHGMKI_00005 |
5500 |
32 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
309C>T |
Tyr103Tyr |
M0053540 |
GGMHGMKI_00005 |
5506 |
32 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
303A>G |
Lys101Lys |
M0053541 |
GGMHGMKI_00005 |
5509 |
32 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
300G>T |
Gly100Gly |
M0053542 |
GGMHGMKI_00005 |
5518 |
32 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
291T>C |
Phe97Phe |
M0053543 |
GGMHGMKI_00005 |
5524 |
32 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Thr95Thr |
M0053544 |
GGMHGMKI_00005 |
5560 |
33 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
249C>T |
Asn83Asn |
M0053545 |
GGMHGMKI_00005 |
5590 |
37 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
219A>C |
Gly73Gly |
M0053546 |
GGMHGMKI_00005 |
5605 |
26 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
204T>A |
Ala68Ala |
M0053547 |
GGMHGMKI_00002 |
5852 |
18 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3418T>G |
None |
M0053548 |
GGMHGMKI_00002 |
5903 |
20 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3469T>C |
None |
M0053549 |
GGMHGMKI_00002 |
5909 |
19 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3475T>C |
None |
M0053550 |
GGMHGMKI_00002 |
5919 |
26 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3485C>T |
None |
M0053551 |
GGMHGMKI_00002 |
5926 |
26 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3492T>A |
None |
M0053552 |
GGMHGMKI_00006 |
5992 |
24 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
40C>T |
His14Tyr |
M0053553 |
GGMHGMKI_00006 |
6010 |
24 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
58A>G |
Arg20Gly |
M0053554 |
GGMHGMKI_00006 |
6046 |
47 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
94A>G |
Thr32Ala |
M0053555 |
GGMHGMKI_00006 |
6070 |
51 |
Skin |
0.35 |
protein_coding |
missense_variant |
MODERATE |
118A>G |
Ile40Val |
M0053556 |
GGMHGMKI_00006 |
6111 |
25 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
159C>A |
Ala53Ala |
M0053557 |
GGMHGMKI_00006 |
6126 |
21 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
174G>A |
Gln58Gln |
M0053558 |
GGMHGMKI_00006 |
6224 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
272T>A |
Val91Glu |
M0053559 |
GGMHGMKI_00006 |
6238 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
286A>G |
Met96Val |
M0053560 |
GGMHGMKI_00006 |
6300 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
Val116Val |
M0053561 |
GGMHGMKI_00006 |
6316 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
364C>A |
Leu122Ile |
M0053562 |
GGMHGMKI_00006 |
6322 |
24 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
370A>G |
Ile124Val |
M0053563 |
GGMHGMKI_00006 |
6340 |
26 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
388T>G |
Ser130Ala |
M0053564 |
GGMHGMKI_00006 |
6390 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
438G>A |
Thr146Thr |
M0053565 |
GGMHGMKI_00006 |
6391 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
439C>T |
Leu147Leu |
M0053566 |
GGMHGMKI_00006 |
6396 |
28 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
444G>A |
Gly148Gly |
M0053567 |
GGMHGMKI_00006 |
6411 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
459A>T |
Pro153Pro |
M0053568 |
GGMHGMKI_00006 |
6595 |
19 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
643T>C |
Phe215Leu |
M0053569 |
GGMHGMKI_00006 |
6619 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
667G>T |
Ala223Ser |
M0053570 |
GGMHGMKI_00006 |
6715 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
763T>A |
Cys255Ser |
M0053571 |
GGMHGMKI_00002 |
3619 |
16 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1185C>T |
None |
M0053572 |
GGMHGMKI_00005 |
4333 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1476C>T |
Gly492Gly |
M0053573 |
GGMHGMKI_00005 |
4552 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1257A>G |
Leu419Leu |
M0053574 |
GGMHGMKI_00005 |
4906 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
903T>A |
Pro301Pro |
M0053575 |
GGMHGMKI_00005 |
5017 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
792T>A |
Ile264Ile |
M0053576 |
GGMHGMKI_00005 |
5069 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
740G>A |
Arg247Lys |
M0053577 |
GGMHGMKI_00005 |
5602 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
207C>T |
Asn69Asn |
M0053578 |
GGMHGMKI_00005 |
5632 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
177T>G |
Gly59Gly |
M0053579 |
GGMHGMKI_00005 |
5635 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
174C>T |
Ile58Ile |
M0053580 |
GGMHGMKI_00005 |
5683 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
126A>C |
Leu42Leu |
M0053581 |
GGMHGMKI_00005 |
5704 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
105T>C |
Gly35Gly |
M0053582 |
GGMHGMKI_00005 |
5797 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
12A>G |
Leu4Leu |
M0053583 |
GGMHGMKI_00006 |
6186 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
234T>A |
Gly78Gly |
M0053584 |
GGMHGMKI_00006 |
6289 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
337G>T |
Val113Phe |
M0053585 |
GGMHGMKI_00006 |
6328 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
376G>A |
Val126Met |
M0053586 |
GGMHGMKI_00006 |
6378 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Ser142Ser |
M0053587 |
GGMHGMKI_00006 |
6544 |
27 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
592G>T |
Val198Phe |
M0053588 |
GGMHGMKI_00006 |
6729 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
777C>T |
Asn259Asn |
M0053589 |
GGMHGMKI_00002 |
6737 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4303T>C |
None |
M0053590 |
GGMHGMKI_00002 |
6749 |
11 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4315T>C |
None |
M0053591 |
GGMHGMKI_00002 |
6764 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4330G>T |
None |
M0053592 |
GGMHGMKI_00007 |
7007 |
32 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
141C>T |
Pro47Pro |
M0053593 |
GGMHGMKI_00002 |
7055 |
31 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4621C>A |
None |
M0053594 |
GGMHGMKI_00002 |
7112 |
27 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4678C>T |
None |
M0053595 |
GGMHGMKI_00002 |
7142 |
42 |
Skin |
0.29 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4708A>G |
None |
M0053596 |
GGMHGMKI_00002 |
7251 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4817T>A |
None |
M0053597 |
GGMHGMKI_00008 |
7911 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
570T>C |
His190His |
M0053598 |
GGMHGMKI_00009 |
8374 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
378A>G |
Leu126Leu |
M0053599 |
GGMHGMKI_00009 |
8401 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
405T>C |
Asn135Asn |
M0053600 |
GGMHGMKI_00009 |
8564 |
24 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
568C>T |
Leu190Leu |
M0053601 |
GGMHGMKI_00010 |
8953 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
42C>T |
Phe14Phe |
M0053602 |
GGMHGMKI_00010 |
9034 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
123T>C |
Val41Val |
M0053603 |
GGMHGMKI_00010 |
9046 |
18 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
135A>G |
Val45Val |
M0053604 |
GGMHGMKI_00010 |
9152 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
241T>A |
Phe81Ile |
M0053605 |
GGMHGMKI_00010 |
9262 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
351A>G |
Thr117Thr |
M0053606 |
GGMHGMKI_00010 |
9304 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
393T>C |
Gly131Gly |
M0053607 |
GGMHGMKI_00010 |
9715 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
804T>A |
Ser268Ser |
M0053608 |
GGMHGMKI_00010 |
9898 |
28 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
987A>T |
Gly329Gly |
M0053609 |
GGMHGMKI_00010 |
9952 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1041C>T |
Gly347Gly |
M0053610 |
GGMHGMKI_00011 |
10192 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1337C>T |
Ala446Val |
M0053611 |
GGMHGMKI_00011 |
10228 |
25 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1301A>G |
Lys434Arg |
M0053612 |
GGMHGMKI_00011 |
10509 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1020C>T |
Leu340Leu |
M0053613 |
GGMHGMKI_00011 |
10511 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1018C>A |
Leu340Ile |
M0053614 |
GGMHGMKI_00011 |
10513 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1016C>T |
Ala339Val |
M0053615 |
GGMHGMKI_00011 |
10519 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1010A>T |
Asn337Ile |
M0053616 |
GGMHGMKI_00011 |
10535 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
994A>G |
Thr332Ala |
M0053617 |
GGMHGMKI_00011 |
10547 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
982T>A |
Ser328Thr |
M0053618 |
GGMHGMKI_00011 |
11268 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
261G>A |
Leu87Leu |
M0053619 |
GGMHGMKI_00011 |
11349 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
180A>T |
Pro60Pro |
M0053620 |
GGMHGMKI_00011 |
11382 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
147G>T |
Met49Ile |
M0053621 |
GGMHGMKI_00011 |
11383 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
146T>C |
Met49Thr |
M0053622 |
GGMHGMKI_00011 |
11390 |
15 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
139A>G |
Lys47Glu |
M0053623 |
GGMHGMKI_00011 |
11406 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
123G>A |
Lys41Lys |
M0053624 |
GGMHGMKI_00011 |
11431 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
98A>C |
Lys33Thr |
M0053625 |
GGMHGMKI_00011 |
11625 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-97A>T |
None |
M0053626 |
GGMHGMKI_00011 |
11741 |
15 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-213A>G |
None |
M0053627 |
GGMHGMKI_00011 |
11767 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-239C>T |
None |
M0053628 |
GGMHGMKI_00011 |
11789 |
22 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-261C>T |
None |
M0053629 |
GGMHGMKI_00012 |
11907 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1618A>T |
Thr540Ser |
M0053630 |
GGMHGMKI_00012 |
12058 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1467C>T |
Gly489Gly |
M0053631 |
GGMHGMKI_00012 |
12343 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1182A>G |
Leu394Leu |
M0053632 |
GGMHGMKI_00012 |
12358 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1167T>A |
Thr389Thr |
M0053633 |
GGMHGMKI_00012 |
12448 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1077C>T |
Ser359Ser |
M0053634 |
GGMHGMKI_00012 |
12502 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1023T>C |
Ile341Ile |
M0053635 |
GGMHGMKI_00012 |
12754 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
771A>T |
Ile257Ile |
M0053636 |
GGMHGMKI_00012 |
12973 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
552A>G |
Leu184Leu |
M0053637 |
GGMHGMKI_00012 |
12975 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
550T>A |
Leu184Ile |
M0053638 |
GGMHGMKI_00012 |
13018 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
507A>T |
Ser169Ser |
M0053639 |
GGMHGMKI_00012 |
13048 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
477A>G |
Lys159Lys |
M0053640 |
GGMHGMKI_00012 |
13452 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
73T>C |
Leu25Leu |
M0053641 |
GGMHGMKI_00011 |
14039 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2511C>T |
None |
M0053642 |
GGMHGMKI_00014 |
14761 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
417A>T |
Pro139Pro |
M0053643 |
GGMHGMKI_00016 |
17150 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
225A>G |
Gly75Gly |
M0053644 |
GGMHGMKI_00012 |
17784 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4260C>T |
None |
M0053645 |
GGMHGMKI_00012 |
17790 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4266C>A |
None |
M0053646 |
GGMHGMKI_00012 |
17799 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4275A>C |
None |
M0053647 |
GGMHGMKI_00005 |
5296 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
513G>A |
Lys171Lys |
M0053648 |
GGMHGMKI_00006 |
5974 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
22G>A |
Glu8Lys |
M0053649 |
GGMHGMKI_00006 |
6331 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
379A>G |
Ile127Val |
M0053650 |
GGMHGMKI_00004 |
4001 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
291G>A |
Lys97Lys |
M0053651 |
GGMHGMKI_00005 |
4767 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1042G>A |
Val348Ile |
M0053652 |
GGMHGMKI_00005 |
5729 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
80T>G |
Val27Gly |
M0053653 |
GGMHGMKI_00001 |
340 |
21 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-925G>A |
None |
M0053654 |
GGMHGMKI_00001 |
343 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-922C>T |
None |
M0053655 |
GGMHGMKI_00001 |
355 |
15 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-910G>A |
None |
M0053656 |
GGMHGMKI_00001 |
372 |
15 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-893A>G |
None |
M0053657 |
GGMHGMKI_00001 |
541 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-724A>C |
None |
M0053658 |
GGMHGMKI_00001 |
772 |
24 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-493T>C |
None |
M0053659 |
GGMHGMKI_00001 |
1197 |
17 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-68A>G |
None |
M0053660 |
GGMHGMKI_00001 |
1213 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-52C>T |
None |
M0053661 |
GGMHGMKI_00001 |
1239 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-26T>C |
None |
M0053662 |
GGMHGMKI_00001 |
1241 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-24C>T |
None |
M0053663 |
GGMHGMKI_00001 |
1300 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
36T>C |
Thr12Thr |
M0053664 |
GGMHGMKI_00001 |
1347 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
83A>T |
Lys28Ile |
M0053665 |
GGMHGMKI_00001 |
1528 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
264T>C |
Asn88Asn |
M0053666 |
GGMHGMKI_00001 |
1567 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
303G>A |
Glu101Glu |
M0053667 |
GGMHGMKI_00001 |
1780 |
21 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
516T>C |
Tyr172Tyr |
M0053668 |
GGMHGMKI_00001 |
1870 |
24 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
606G>A |
Glu202Glu |
M0053669 |
GGMHGMKI_00001 |
2020 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
756G>T |
Val252Val |
M0053670 |
GGMHGMKI_00004 |
2099 |
11 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1612A>T |
None |
M0053671 |
GGMHGMKI_00002 |
2345 |
22 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
90C>T |
Asn30Asn |
M0053672 |
GGMHGMKI_00003 |
2490 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1038C>A |
Arg346Arg |
M0053673 |
GGMHGMKI_00003 |
2666 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
862G>A |
Val288Ile |
M0053674 |
GGMHGMKI_00002 |
4220 |
23 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1786C>A |
None |
M0053675 |
GGMHGMKI_00005 |
5557 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
252C>T |
Ile84Ile |
M0053676 |
GGMHGMKI_00002 |
2260 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
175A>C |
Asn59His |
M0053677 |
GGMHGMKI_00002 |
2267 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
168G>A |
Leu56Leu |
M0053678 |
GGMHGMKI_00002 |
2332 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
103A>G |
Ile35Val |
M0053679 |
GGMHGMKI_00002 |
2375 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
60A>G |
Lys20Lys |
M0053680 |
GGMHGMKI_00003 |
2463 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1065A>G |
Ala355Ala |
M0053681 |
GGMHGMKI_00003 |
2565 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
963T>C |
Tyr321Tyr |
M0053682 |
GGMHGMKI_00003 |
2754 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
774A>G |
Pro258Pro |
M0053683 |
GGMHGMKI_00004 |
3741 |
18 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
31T>A |
Leu11Ile |
M0053684 |
GGMHGMKI_00004 |
3779 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
69A>G |
Lys23Lys |
M0053685 |
GGMHGMKI_00004 |
3944 |
27 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
234A>G |
Glu78Glu |
M0053686 |
GGMHGMKI_00004 |
3950 |
27 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
240A>C |
Ala80Ala |
M0053687 |
GGMHGMKI_00004 |
3953 |
27 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
243C>T |
Phe81Phe |
M0053688 |
GGMHGMKI_00005 |
4423 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1386G>A |
Lys462Lys |
M0053689 |
GGMHGMKI_00005 |
4738 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1071T>C |
Ile357Ile |
M0053690 |
GGMHGMKI_00005 |
4754 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1055C>T |
Thr352Ile |
M0053691 |
GGMHGMKI_00005 |
4807 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1002C>T |
Val334Val |
M0053692 |
GGMHGMKI_00005 |
4819 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
990C>T |
Phe330Phe |
M0053693 |
GGMHGMKI_00005 |
4820 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
989T>G |
Phe330Cys |
M0053694 |
GGMHGMKI_00005 |
4825 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
984C>A |
Val328Val |
M0053695 |
GGMHGMKI_00005 |
4828 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
981T>G |
Pro327Pro |
M0053696 |
GGMHGMKI_00005 |
4843 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
966G>A |
Ser322Ser |
M0053697 |
GGMHGMKI_00005 |
4852 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
957T>A |
His319Gln |
M0053698 |
GGMHGMKI_00005 |
4853 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
956A>G |
His319Arg |
M0053699 |
GGMHGMKI_00002 |
7093 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4659T>C |
None |
M0053700 |
GGMHGMKI_00008 |
7677 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
336G>A |
Ala112Ala |
M0053701 |
GGMHGMKI_00009 |
8641 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
645G>A |
Leu215Leu |
M0053702 |
GGMHGMKI_00009 |
8650 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
654G>A |
Val218Val |
M0053703 |
GGMHGMKI_00012 |
11857 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1668G>A |
Glu556Glu |
M0053704 |
GGMHGMKI_00012 |
11865 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1660C>A |
Arg554Arg |
M0053705 |
GGMHGMKI_00013 |
13984 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
280C>T |
Pro94Ser |
M0053706 |
GGMHGMKI_00011 |
15299 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3771A>G |
None |
M0053707 |
GGMHGMKI_00006 |
6622 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
670G>A |
Ala224Thr |
M0053708 |
GGMHGMKI_00011 |
10487 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1042T>G |
Leu348Val |
M0053709 |
GGMHGMKI_00011 |
10768 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
761C>A |
Thr254Asn |
M0053710 |
GGMHGMKI_00011 |
11244 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
285A>G |
Ser95Ser |
M0053711 |
GGMHGMKI_00012 |
12673 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
852A>T |
Ser284Ser |
M0053712 |
GGMHGMKI_00003 |
2724 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
804C>T |
Ile268Ile |
M0053713 |
GGMHGMKI_00003 |
2789 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
739A>G |
Ser247Gly |
M0053714 |
GGMHGMKI_00003 |
3222 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
306T>C |
Ile102Ile |
M0053715 |
GGMHGMKI_00004 |
3815 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
105A>T |
Gly35Gly |
M0053716 |
GGMHGMKI_00004 |
3818 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
108G>A |
Lys36Lys |
M0053717 |
GGMHGMKI_00004 |
3982 |
17 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
272C>T |
Ala91Val |
M0053718 |
GGMHGMKI_00004 |
4082 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
372T>C |
Asp124Asp |
M0053719 |
GGMHGMKI_00002 |
4181 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1747A>G |
None |
M0053720 |
GGMHGMKI_00001 |
73 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1192T>C |
None |
M0053721 |
GGMHGMKI_00001 |
121 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1144T>C |
None |
M0053722 |
GGMHGMKI_00001 |
163 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1102A>G |
None |
M0053723 |
GGMHGMKI_00001 |
183 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1082A>G |
None |
M0053724 |
GGMHGMKI_00001 |
190 |
11 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1075A>T |
None |
M0053725 |
GGMHGMKI_00001 |
219 |
15 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1046G>A |
None |
M0053726 |
GGMHGMKI_00001 |
430 |
13 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-835G>A |
None |
M0053727 |
GGMHGMKI_00001 |
434 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-831G>T |
None |
M0053728 |
GGMHGMKI_00001 |
487 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-778A>G |
None |
M0053729 |
GGMHGMKI_00001 |
492 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-773C>A |
None |
M0053730 |
GGMHGMKI_00001 |
508 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-757G>A |
None |
M0053731 |
GGMHGMKI_00001 |
574 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-691A>G |
None |
M0053732 |
GGMHGMKI_00001 |
745 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-520C>T |
None |
M0053733 |
GGMHGMKI_00001 |
817 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-448A>T |
None |
M0053734 |
GGMHGMKI_00001 |
871 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-394C>T |
None |
M0053735 |
GGMHGMKI_00001 |
954 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-311T>G |
None |
M0053736 |
GGMHGMKI_00001 |
969 |
15 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-296G>C |
None |
M0053737 |
GGMHGMKI_00001 |
1948 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
684A>G |
Lys228Lys |
M0053738 |
GGMHGMKI_00001 |
1972 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
708T>C |
Asp236Asp |
M0053739 |
GGMHGMKI_00004 |
2120 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1591C>T |
None |
M0053740 |
GGMHGMKI_00004 |
2238 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1473G>A |
None |
M0053741 |
GGMHGMKI_00002 |
2413 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
22G>T |
Ala8Ser |
M0053742 |
GGMHGMKI_00003 |
2598 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
930C>T |
Ile310Ile |
M0053743 |
GGMHGMKI_00003 |
3144 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
384A>G |
Lys128Lys |
M0053744 |
GGMHGMKI_00003 |
3174 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
354T>G |
Pro118Pro |
M0053745 |
GGMHGMKI_00005 |
5317 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
492A>C |
Val164Val |
M0053746 |
GGMHGMKI_00002 |
5878 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3444T>A |
None |
M0053747 |
GGMHGMKI_00006 |
6573 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
621C>T |
Asp207Asp |
M0053748 |
GGMHGMKI_00004 |
2170 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1541T>A |
None |
M0053749 |
GGMHGMKI_00004 |
2206 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1505A>G |
None |
M0053750 |
GGMHGMKI_00004 |
2226 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1485C>T |
None |
M0053751 |
GGMHGMKI_00003 |
2762 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
766G>A |
Asp256Asn |
M0053752 |
GGMHGMKI_00004 |
4003 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
293C>T |
Ala98Val |
M0053753 |
GGMHGMKI_00004 |
4010 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
300A>G |
Glu100Glu |
M0053754 |
GGMHGMKI_00005 |
4874 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
935A>C |
Asp312Ala |
M0053755 |
GGMHGMKI_00001 |
385 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-880C>T |
None |
M0053756 |
GGMHGMKI_00001 |
505 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-760C>T |
None |
M0053757 |
GGMHGMKI_00001 |
601 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-664G>A |
None |
M0053758 |
GGMHGMKI_00001 |
688 |
13 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-577T>A |
None |
M0053759 |
GGMHGMKI_00001 |
835 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-430T>A |
None |
M0053760 |
GGMHGMKI_00001 |
1330 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Ser22Ser |
M0053761 |
GGMHGMKI_00001 |
1696 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
432A>G |
Gly144Gly |
M0053762 |
GGMHGMKI_00001 |
1705 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
441C>G |
Ala147Ala |
M0053763 |
GGMHGMKI_00001 |
1735 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
471A>T |
Ala157Ala |
M0053764 |
GGMHGMKI_00001 |
1756 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
492C>T |
Phe164Phe |
M0053765 |
GGMHGMKI_00001 |
1807 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
543C>T |
Ala181Ala |
M0053766 |
GGMHGMKI_00001 |
1942 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
678C>T |
Val226Val |
M0053767 |
GGMHGMKI_00004 |
2142 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1569A>G |
None |
M0053768 |
GGMHGMKI_00004 |
2157 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1554C>T |
None |
M0053769 |
GGMHGMKI_00004 |
2195 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1516A>G |
None |
M0053770 |
GGMHGMKI_00003 |
2544 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
984G>A |
Val328Val |
M0053771 |
GGMHGMKI_00003 |
2604 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
924A>G |
Glu308Glu |
M0053772 |
GGMHGMKI_00003 |
2817 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
711G>T |
Gly237Gly |
M0053773 |
GGMHGMKI_00005 |
4486 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1323C>T |
Ser441Ser |
M0053774 |
GGMHGMKI_00007 |
6882 |
20 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
16A>G |
Ile6Val |
M0053775 |
GGMHGMKI_00007 |
6911 |
18 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
45T>C |
Thr15Thr |
M0053776 |
GGMHGMKI_00007 |
7045 |
22 |
Skin |
0.15 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
179A>G |
Ter60Ter |
M0053777 |
GGMHGMKI_00002 |
7052 |
22 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4618T>C |
None |
M0053778 |
GGMHGMKI_00002 |
7078 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4644C>T |
None |
M0053779 |
GGMHGMKI_00002 |
7095 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4661T>A |
None |
M0053780 |
GGMHGMKI_00002 |
7102 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4668G>T |
None |
M0053781 |
GGMHGMKI_00002 |
7104 |
21 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4670A>G |
None |
M0053782 |
GGMHGMKI_00002 |
7109 |
18 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4675T>G |
None |
M0053783 |
GGMHGMKI_00002 |
7174 |
21 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4740C>T |
None |
M0053784 |
GGMHGMKI_00002 |
7210 |
15 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4776T>C |
None |
M0053785 |
GGMHGMKI_00002 |
7212 |
19 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4778C>T |
None |
M0053786 |
GGMHGMKI_00002 |
7247 |
20 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4813T>A |
None |
M0053787 |
GGMHGMKI_00002 |
7283 |
20 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4849A>T |
None |
M0053788 |
GGMHGMKI_00008 |
7392 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
51T>C |
Ile17Ile |
M0053789 |
GGMHGMKI_00008 |
7503 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
162C>T |
Pro54Pro |
M0053790 |
GGMHGMKI_00008 |
7543 |
19 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
202A>G |
Asn68Asp |
M0053791 |
GGMHGMKI_00008 |
7605 |
19 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
264C>T |
Ile88Ile |
M0053792 |
GGMHGMKI_00008 |
7683 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
342A>C |
Gln114His |
M0053793 |
GGMHGMKI_00008 |
7698 |
19 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
357A>G |
Val119Val |
M0053794 |
GGMHGMKI_00008 |
7702 |
21 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
361T>C |
Leu121Leu |
M0053795 |
GGMHGMKI_00008 |
7729 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
388A>T |
Ile130Phe |
M0053796 |
GGMHGMKI_00008 |
7773 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
432T>A |
Ala144Ala |
M0053797 |
GGMHGMKI_00008 |
7774 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
433A>C |
Arg145Arg |
M0053798 |
GGMHGMKI_00009 |
8120 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
124C>T |
Leu42Leu |
M0053799 |
GGMHGMKI_00009 |
8134 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
138C>T |
Gly46Gly |
M0053800 |
GGMHGMKI_00009 |
8185 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
189A>T |
Leu63Leu |
M0053801 |
GGMHGMKI_00009 |
8206 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
210C>T |
Ile70Ile |
M0053802 |
GGMHGMKI_00009 |
8296 |
26 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
300G>A |
Ala100Ala |
M0053803 |
GGMHGMKI_00009 |
8308 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
312A>G |
Ala104Ala |
M0053804 |
GGMHGMKI_00005 |
8883 |
20 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3075A>G |
None |
M0053805 |
GGMHGMKI_00005 |
8907 |
20 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3099A>T |
None |
M0053806 |
GGMHGMKI_00005 |
8909 |
20 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3101C>T |
None |
M0053807 |
GGMHGMKI_00010 |
9094 |
18 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
183G>A |
Lys61Lys |
M0053808 |
GGMHGMKI_00010 |
9143 |
17 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
232G>A |
Val78Ile |
M0053809 |
GGMHGMKI_00010 |
9189 |
17 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
278G>C |
Gly93Ala |
M0053810 |
GGMHGMKI_00010 |
9400 |
22 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
489C>T |
Phe163Phe |
M0053811 |
GGMHGMKI_00010 |
9407 |
19 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
496A>G |
Ile166Val |
M0053812 |
GGMHGMKI_00010 |
9428 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
517G>A |
Val173Ile |
M0053813 |
GGMHGMKI_00010 |
9433 |
19 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
522A>G |
Leu174Leu |
M0053814 |
GGMHGMKI_00010 |
9475 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
564A>T |
Pro188Pro |
M0053815 |
GGMHGMKI_00010 |
9486 |
20 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
575C>T |
Pro192Leu |
M0053816 |
GGMHGMKI_00010 |
9494 |
17 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
583T>G |
Ser195Ala |
M0053817 |
GGMHGMKI_00010 |
9545 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
634T>A |
Phe212Ile |
M0053818 |
GGMHGMKI_00010 |
9574 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
663G>A |
Val221Val |
M0053819 |
GGMHGMKI_00010 |
9575 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
664C>T |
Leu222Leu |
M0053820 |
GGMHGMKI_00010 |
9661 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
750A>G |
Leu250Leu |
M0053821 |
GGMHGMKI_00010 |
9787 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
876C>T |
Asn292Asn |
M0053822 |
GGMHGMKI_00010 |
9820 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
909T>C |
Val303Val |
M0053823 |
GGMHGMKI_00010 |
9847 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
936G>A |
Gln312Gln |
M0053824 |
GGMHGMKI_00010 |
10072 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1161T>C |
His387His |
M0053825 |
GGMHGMKI_00005 |
10102 |
17 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4294C>A |
None |
M0053826 |
GGMHGMKI_00005 |
10115 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4307G>A |
None |
M0053827 |
GGMHGMKI_00005 |
10133 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4325T>C |
None |
M0053828 |
GGMHGMKI_00005 |
10143 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4335A>G |
None |
M0053829 |
GGMHGMKI_00005 |
10151 |
17 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4343G>A |
None |
M0053830 |
GGMHGMKI_00005 |
10161 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4353G>A |
None |
M0053831 |
GGMHGMKI_00011 |
10193 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1336G>A |
Ala446Thr |
M0053832 |
GGMHGMKI_00011 |
10200 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1329A>T |
Gln443His |
M0053833 |
GGMHGMKI_00011 |
10456 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1073T>C |
Ile358Thr |
M0053834 |
GGMHGMKI_00011 |
10518 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1011T>G |
Asn337Lys |
M0053835 |
GGMHGMKI_00011 |
10527 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1002C>T |
Val334Val |
M0053836 |
GGMHGMKI_00011 |
10641 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
888A>G |
Lys296Lys |
M0053837 |
GGMHGMKI_00011 |
10646 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
883C>T |
Pro295Ser |
M0053838 |
GGMHGMKI_00011 |
10722 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
807T>C |
Arg269Arg |
M0053839 |
GGMHGMKI_00011 |
10860 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
669T>A |
Thr223Thr |
M0053840 |
GGMHGMKI_00011 |
10884 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
645G>A |
Val215Val |
M0053841 |
GGMHGMKI_00011 |
10947 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
582A>G |
Ala194Ala |
M0053842 |
GGMHGMKI_00011 |
10959 |
17 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
570G>A |
Met190Ile |
M0053843 |
GGMHGMKI_00011 |
10982 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
547G>A |
Asp183Asn |
M0053844 |
GGMHGMKI_00011 |
11017 |
17 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
512G>A |
Arg171Lys |
M0053845 |
GGMHGMKI_00011 |
11178 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
351C>T |
Gly117Gly |
M0053846 |
GGMHGMKI_00011 |
11314 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
215T>C |
Met72Thr |
M0053847 |
GGMHGMKI_00011 |
11335 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
194C>T |
Ser65Leu |
M0053848 |
GGMHGMKI_00003 |
2547 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
981T>A |
Ser327Ser |
M0053849 |
GGMHGMKI_00003 |
2559 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
969C>T |
His323His |
M0053850 |
GGMHGMKI_00003 |
2939 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
589G>A |
Asp197Asn |
M0053851 |
GGMHGMKI_00003 |
3324 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
204A>G |
Glu68Glu |
M0053852 |
GGMHGMKI_00004 |
4095 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
385G>C |
Asp129His |
M0053853 |
GGMHGMKI_00005 |
4539 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1270G>A |
Asp424Asn |
M0053854 |
GGMHGMKI_00005 |
4705 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1104T>C |
Ala368Ala |
M0053855 |
GGMHGMKI_00005 |
4822 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
987C>G |
Gly329Gly |
M0053856 |
GGMHGMKI_00005 |
5389 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
420C>T |
Arg140Arg |
M0053857 |
GGMHGMKI_00005 |
5465 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
344C>A |
Pro115Gln |
M0053858 |
GGMHGMKI_00005 |
4771 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1038A>T |
Thr346Thr |
M0053859 |
GGMHGMKI_00005 |
4987 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
822T>C |
Gly274Gly |
M0053860 |
GGMHGMKI_00002 |
7190 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4756C>T |
None |
M0053861 |
GGMHGMKI_00009 |
8521 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
525C>T |
Arg175Arg |
M0053862 |
GGMHGMKI_00010 |
9383 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
472C>A |
Arg158Arg |
M0053863 |
GGMHGMKI_00011 |
10578 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
951C>A |
Thr317Thr |
M0053864 |
GGMHGMKI_00011 |
10791 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
738T>A |
Pro246Pro |
M0053865 |
GGMHGMKI_00011 |
11319 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
210T>C |
Phe70Phe |
M0053866 |
GGMHGMKI_00011 |
11611 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-83T>C |
None |
M0053867 |
GGMHGMKI_00011 |
11697 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-169A>T |
None |
M0053868 |
GGMHGMKI_00012 |
13192 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
333T>A |
Ala111Ala |
M0053869 |
GGMHGMKI_00012 |
13204 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
321A>G |
Glu107Glu |
M0053870 |
GGMHGMKI_00012 |
13513 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
12T>A |
Asn4Lys |
M0053871 |
GGMHGMKI_00011 |
13654 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2126T>A |
None |
M0053872 |
GGMHGMKI_00011 |
13659 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2131T>A |
None |
M0053873 |
GGMHGMKI_00011 |
13687 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2159A>T |
None |
M0053874 |
GGMHGMKI_00013 |
13865 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
161C>T |
Ala54Val |
M0053875 |
GGMHGMKI_00013 |
13932 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
228A>T |
Glu76Asp |
M0053876 |
GGMHGMKI_00003 |
2577 |
18 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
951G>A |
Val317Val |
M0053877 |
GGMHGMKI_00010 |
9473 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
562C>A |
Pro188Thr |
M0053878 |
GGMHGMKI_00012 |
12703 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
822G>A |
Glu274Glu |
M0053879 |
GGMHGMKI_00012 |
12715 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
810A>G |
Ser270Ser |
M0053880 |
GGMHGMKI_00012 |
12727 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
798T>A |
Ser266Ser |
M0053881 |
GGMHGMKI_00012 |
12784 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
741C>T |
Ile247Ile |
M0053882 |
GGMHGMKI_00012 |
12820 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
705A>G |
Lys235Lys |
M0053883 |
GGMHGMKI_00002 |
7269 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4835A>C |
None |
M0053884 |
GGMHGMKI_00008 |
7398 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
57T>A |
Asp19Glu |
M0053885 |
GGMHGMKI_00008 |
7652 |
14 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
311G>A |
Ser104Asn |
M0053886 |
GGMHGMKI_00009 |
8590 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
594A>G |
Thr198Thr |
M0053887 |
GGMHGMKI_00005 |
8900 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3092G>A |
None |
M0053888 |
GGMHGMKI_00010 |
9307 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
396T>C |
Ile132Ile |
M0053889 |
GGMHGMKI_00010 |
9601 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
690G>C |
Val230Val |
M0053890 |
GGMHGMKI_00010 |
9688 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
777T>C |
Ile259Ile |
M0053891 |
GGMHGMKI_00002 |
3575 |
11 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1141C>T |
None |
M0053892 |
GGMHGMKI_00005 |
4318 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1491G>C |
Thr497Thr |
M0053893 |
GGMHGMKI_00003 |
3089 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
439G>A |
Glu147Lys |
M0053894 |
GGMHGMKI_00005 |
4959 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
850G>A |
Glu284Lys |
M0053895 |
GGMHGMKI_00002 |
7150 |
17 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4716T>C |
None |
M0053896 |
GGMHGMKI_00002 |
7151 |
17 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4717C>T |
None |
M0053897 |
GGMHGMKI_00002 |
7202 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4768A>T |
None |
M0053898 |
GGMHGMKI_00009 |
8501 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
505T>G |
Ser169Ala |
M0053899 |
GGMHGMKI_00002 |
3558 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1124C>A |
None |
M0053900 |
GGMHGMKI_00005 |
4975 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
834G>A |
Glu278Glu |
M0053901 |
GGMHGMKI_00005 |
5002 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
807T>C |
Gly269Gly |
M0053902 |
GGMHGMKI_00005 |
5008 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
801T>A |
Ala267Ala |
M0053903 |
GGMHGMKI_00005 |
5215 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
594G>A |
Leu198Leu |
M0053904 |
GGMHGMKI_00005 |
5659 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
150A>T |
Arg50Arg |
M0053905 |
GGMHGMKI_00005 |
5736 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
73C>T |
Leu25Phe |
M0053906 |
GGMHGMKI_00005 |
5770 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
39T>C |
Ile13Ile |
M0053907 |
GGMHGMKI_00006 |
6415 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
463G>C |
Val155Leu |
M0053908 |
GGMHGMKI_00002 |
7131 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4697A>G |
None |
M0053909 |
GGMHGMKI_00010 |
9134 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
223A>G |
Thr75Ala |
M0053910 |
GGMHGMKI_00010 |
9136 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
225G>A |
Thr75Thr |
M0053911 |
GGMHGMKI_00010 |
9164 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
253A>T |
Met85Leu |
M0053912 |
GGMHGMKI_00010 |
9343 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
432T>A |
Gly144Gly |
M0053913 |
GGMHGMKI_00011 |
10475 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1054T>C |
Tyr352His |
M0053914 |
GGMHGMKI_00011 |
10647 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
882T>C |
Phe294Phe |
M0053915 |
GGMHGMKI_00011 |
11070 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
459T>A |
Phe153Leu |
M0053916 |
GGMHGMKI_00011 |
11316 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
213G>A |
Ser71Ser |
M0053917 |
GGMHGMKI_00011 |
11392 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
137G>C |
Ser46Thr |
M0053918 |
GGMHGMKI_00011 |
11582 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-54A>T |
None |
M0053919 |
GGMHGMKI_00011 |
11602 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-74C>G |
None |
M0053920 |
GGMHGMKI_00011 |
11624 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-96A>G |
None |
M0053921 |
GGMHGMKI_00011 |
11644 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-116G>A |
None |
M0053922 |
GGMHGMKI_00011 |
11654 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-126T>C |
None |
M0053923 |
GGMHGMKI_00011 |
11677 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-149T>C |
None |
M0053924 |
GGMHGMKI_00011 |
11735 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-207T>A |
None |
M0053925 |
GGMHGMKI_00011 |
11748 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-220C>T |
None |
M0053926 |
GGMHGMKI_00011 |
11791 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-263T>C |
None |
M0053927 |
GGMHGMKI_00006 |
6577 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
625G>T |
Ala209Ser |
M0053928 |
GGMHGMKI_00006 |
6616 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
664T>A |
Ser222Thr |
M0053929 |
GGMHGMKI_00002 |
7110 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4676G>A |
None |
M0053930 |
GGMHGMKI_00008 |
7657 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
316G>A |
Ala106Thr |
M0053931 |
GGMHGMKI_00008 |
7735 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
394C>T |
His132Tyr |
M0053932 |
GGMHGMKI_00001 |
61 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1204T>C |
None |
M0053933 |
GGMHGMKI_00001 |
697 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-568G>A |
None |
M0053934 |
GGMHGMKI_00001 |
877 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-388T>A |
None |
M0053935 |
GGMHGMKI_00001 |
2048 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
784T>C |
Leu262Leu |
M0053936 |
GGMHGMKI_00004 |
2113 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1598A>C |
None |
M0053937 |
GGMHGMKI_00004 |
2178 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1533T>G |
None |
M0053938 |
GGMHGMKI_00004 |
2223 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1488A>C |
None |
M0053939 |
GGMHGMKI_00002 |
2292 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
143G>A |
Ser48Asn |
M0053940 |
GGMHGMKI_00003 |
2717 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
811G>A |
Asp271Asn |
M0053941 |
GGMHGMKI_00004 |
4115 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
405G>A |
Arg135Arg |
M0053942 |
GGMHGMKI_00002 |
6747 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4313A>G |
None |
M0053943 |
GGMHGMKI_00008 |
7357 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
16G>A |
Glu6Lys |
M0053944 |
GGMHGMKI_00009 |
8557 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
561A>G |
Thr187Thr |
M0053945 |
GGMHGMKI_00010 |
9073 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
162A>G |
Ile54Met |
M0053946 |
GGMHGMKI_00010 |
9595 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
684A>T |
Thr228Thr |
M0053947 |
GGMHGMKI_00010 |
9625 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
714C>A |
Ser238Ser |
M0053948 |
GGMHGMKI_00010 |
9874 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
963C>T |
Ser321Ser |
M0053949 |
GGMHGMKI_00011 |
11239 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
290A>G |
Asn97Ser |
M0053950 |
GGMHGMKI_00011 |
11736 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-208T>G |
None |
M0053951 |
GGMHGMKI_00002 |
4187 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1753C>A |
None |
M0053952 |
GGMHGMKI_00002 |
4214 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1780G>T |
None |
M0053953 |
GGMHGMKI_00005 |
5629 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
180C>G |
Pro60Pro |
M0053954 |
GGMHGMKI_00011 |
13637 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2109T>C |
None |
M0053955 |
GGMHGMKI_00006 |
6021 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
69A>G |
Leu23Leu |
M0053956 |
GGMHGMKI_00006 |
6019 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
67T>A |
Leu23Ile |
M0053957 |
GGMHGMKI_00012 |
12444 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1081G>A |
Val361Ile |
M0053958 |
GGMHGMKI_00011 |
13698 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2170A>C |
None |
M0053959 |
GGMHGMKI_00011 |
13700 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2172A>C |
None |
M0053960 |
GGMHGMKI_00002 |
7321 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4887G>A |
None |
M0053961 |
GGMHGMKI_00008 |
7400 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
59A>G |
Asp20Gly |
M0053962 |
GGMHGMKI_00009 |
8629 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
633T>A |
Ile211Ile |
M0053963 |
GGMHGMKI_00010 |
9998 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1087G>A |
Glu363Lys |
M0053964 |
GGMHGMKI_00005 |
10116 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4308T>A |
None |
M0053965 |
GGMHGMKI_00011 |
10911 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
618C>T |
Pro206Pro |
M0053966 |
GGMHGMKI_00011 |
11091 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
438C>T |
Gly146Gly |
M0053967 |
GGMHGMKI_00010 |
9031 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
120G>T |
Val40Val |
M0053968 |
GGMHGMKI_00011 |
10447 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1082T>A |
Phe361Tyr |
M0053969 |
GGMHGMKI_00011 |
10545 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
984T>C |
Ser328Ser |
M0053970 |
GGMHGMKI_00011 |
10546 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
983C>T |
Ser328Phe |
M0053971 |
GGMHGMKI_00011 |
10590 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
939C>T |
Asp313Asp |
M0053972 |
GGMHGMKI_00011 |
10801 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
728A>G |
His243Arg |
M0053973 |
GGMHGMKI_00011 |
10804 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
725G>A |
Arg242Lys |
M0053974 |
GGMHGMKI_00011 |
11358 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
171C>T |
Ser57Ser |
M0053975 |
GGMHGMKI_00011 |
11467 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
62T>C |
Val21Ala |
M0053976 |
GGMHGMKI_00001 |
142 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1123C>T |
None |
M0053977 |
GGMHGMKI_00001 |
169 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1096A>G |
None |
M0053978 |
GGMHGMKI_00001 |
254 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1011G>T |
None |
M0053979 |
GGMHGMKI_00003 |
3158 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
370C>T |
Pro124Ser |
M0053980 |
GGMHGMKI_00006 |
6324 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
372T>G |
Ile124Met |
M0053981 |
GGMHGMKI_00011 |
10271 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1258C>A |
Arg420Ser |
M0053982 |
GGMHGMKI_00011 |
10458 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1071G>A |
Pro357Pro |
M0053983 |
GGMHGMKI_00011 |
11587 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-59A>C |
None |
M0053984 |
GGMHGMKI_00011 |
11610 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-82G>A |
None |
M0053985 |
GGMHGMKI_00011 |
11615 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-87A>C |
None |
M0053986 |
GGMHGMKI_00011 |
11653 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-125T>C |
None |
M0053987 |
GGMHGMKI_00011 |
11656 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-128T>C |
None |
M0053988 |
GGMHGMKI_00012 |
11902 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1623C>A |
Arg541Arg |
M0053989 |
GGMHGMKI_00012 |
11920 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1605T>C |
Asp535Asp |
M0053990 |
GGMHGMKI_00012 |
11923 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1602C>T |
Gly534Gly |
M0053991 |
GGMHGMKI_00012 |
11962 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1563T>C |
Ile521Ile |
M0053992 |
GGMHGMKI_00012 |
12331 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1194A>T |
Ala398Ala |
M0053993 |
GGMHGMKI_00012 |
12403 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1122G>A |
Ala374Ala |
M0053994 |
GGMHGMKI_00012 |
12424 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1101T>C |
Arg367Arg |
M0053995 |
GGMHGMKI_00012 |
13102 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
423T>C |
Ile141Ile |
M0053996 |
GGMHGMKI_00012 |
13132 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
393A>G |
Lys131Lys |
M0053997 |
GGMHGMKI_00012 |
13168 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
357T>A |
Pro119Pro |
M0053998 |
GGMHGMKI_00012 |
13210 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
315C>T |
Pro105Pro |
M0053999 |
GGMHGMKI_00012 |
13213 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
312T>C |
Ile104Ile |
M0054000 |
GGMHGMKI_00012 |
13294 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
231C>T |
Ser77Ser |
M0054001 |
GGMHGMKI_00012 |
13330 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
195A>G |
Glu65Glu |
M0054002 |
GGMHGMKI_00012 |
13486 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
39T>C |
Ser13Ser |
M0054003 |
GGMHGMKI_00007 |
6986 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
Ser40Ser |
M0054004 |
GGMHGMKI_00009 |
8410 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
414T>C |
Tyr138Tyr |
M0054005 |
GGMHGMKI_00008 |
7710 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
369T>G |
Asn123Lys |
M0054006 |
GGMHGMKI_00009 |
8578 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
582A>G |
Pro194Pro |
M0054007 |
GGMHGMKI_00005 |
8890 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3082A>T |
None |
M0054008 |
GGMHGMKI_00005 |
8895 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3087T>C |
None |
M0054009 |
GGMHGMKI_00010 |
9554 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
643C>A |
Leu215Met |
M0054010 |
GGMHGMKI_00011 |
10529 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1000G>A |
Val334Ile |
M0054011 |
GGMHGMKI_00011 |
10760 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
769G>A |
Asp257Asn |
M0054012 |
GGMHGMKI_00011 |
10821 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
708T>A |
His236Gln |
M0054013 |
GGMHGMKI_00012 |
12493 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1032G>A |
Lys344Lys |
M0054014 |
GGMHGMKI_00012 |
13327 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
198A>T |
Ile66Ile |
M0054015 |
GGMHGMKI_00012 |
13345 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
180C>T |
Ala60Ala |
M0054016 |
GGMHGMKI_00004 |
2153 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1558T>C |
None |
M0054017 |
GGMHGMKI_00009 |
8446 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
450T>A |
Ser150Ser |
M0054018 |
GGMHGMKI_00008 |
7837 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
496C>T |
His166Tyr |
M0054019 |
GGMHGMKI_00008 |
7873 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
532C>T |
Leu178Leu |
M0054020 |
GGMHGMKI_00010 |
9808 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
897A>C |
Gly299Gly |
M0054021 |
GGMHGMKI_00011 |
10644 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
885C>A |
Pro295Pro |
M0054022 |
GGMHGMKI_00011 |
11451 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
78G>A |
Pro26Pro |
M0054023 |
GGMHGMKI_00009 |
8527 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
531G>A |
Ala177Ala |
M0054024 |
GGMHGMKI_00007 |
6890 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
24A>G |
Gly8Gly |
M0054025 |
GGMHGMKI_00008 |
7638 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
297T>G |
Pro99Pro |
M0054026 |
GGMHGMKI_00002 |
7235 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4801C>T |
None |
M0054027 |
GGMHGMKI_00012 |
12019 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1506T>C |
Ile502Ile |
M0054028 |
GGMHGMKI_00012 |
13201 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
324T>A |
Ala108Ala |
M0054029 |
GGMHGMKI_00012 |
13360 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
165A>C |
Val55Val |
M0054030 |
GGMHGMKI_00012 |
13387 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
138T>C |
Ile46Ile |
M0054031 |
GGMHGMKI_00011 |
13537 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2009C>T |
None |
M0054032 |
GGMHGMKI_00013 |
13734 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
30G>T |
Glu10Asp |
M0054033 |
GGMHGMKI_00014 |
14212 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
966T>G |
Asp322Glu |
M0054034 |
GGMHGMKI_00008 |
7492 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
151T>C |
Leu51Leu |
M0054035 |
GGMHGMKI_00011 |
10838 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
691C>A |
His231Asn |
M0054036 |
GGMHGMKI_00011 |
10845 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
684C>T |
Leu228Leu |
M0054037 |
GGMHGMKI_00011 |
13673 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2145C>T |
None |
M0054038 |
GGMHGMKI_00005 |
5745 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
64A>T |
Ile22Phe |
M0054039 |
GGMHGMKI_00003 |
3045 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
483T>A |
Pro161Pro |
M0054040 |
GGMHGMKI_00001 |
1618 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
354G>T |
Thr118Thr |
M0054041 |
GGMHGMKI_00011 |
10178 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1351A>G |
Lys451Glu |
M0054042 |
GGMHGMKI_00004 |
2190 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1521G>T |
None |
M0054043 |
GGMHGMKI_00004 |
2224 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1487T>A |
None |
M0054044 |
GGMHGMKI_00005 |
4495 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1314C>T |
Cys438Cys |
M0054045 |
GGMHGMKI_00002 |
7134 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4700A>T |
None |
M0054046 |
GGMHGMKI_00002 |
7137 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4703C>A |
None |
M0054047 |
GGMHGMKI_00010 |
8956 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
45C>T |
Ile15Ile |
M0054048 |
GGMHGMKI_00011 |
11827 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-299T>C |
None |
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 |
GGMHGMKI_00010 |
2.A.1.2.101 |
77.7 |
6.8e-167 |
1 |
390 |
0.9949 |
0.9873 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.1 |
The Major Facilitator Superfamily (MFS) |