Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C497 |
Reference Plasmid |
NZ_CP024184.1 |
Reference Plasmid Size |
59088 |
Reference Plasmid GC Content |
0.38 |
Reference Plasmid Mobility Type |
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 |
M0090232 |
JDOJADAF_00058 |
50707 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-565A>G |
None |
M0090233 |
JDOJADAF_00058 |
50708 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-566T>G |
None |
M0090234 |
JDOJADAF_00058 |
50710 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-568G>A |
None |
M0090235 |
JDOJADAF_00058 |
50711 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-569G>A |
None |
M0090236 |
JDOJADAF_00058 |
50713 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-571G>T |
None |
M0090237 |
JDOJADAF_00058 |
50717 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-575T>C |
None |
M0090238 |
JDOJADAF_00058 |
50720 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-578A>G |
None |
M0090239 |
JDOJADAF_00058 |
50723 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-581C>T |
None |
M0090240 |
JDOJADAF_00058 |
50726 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-584T>G |
None |
M0090241 |
JDOJADAF_00058 |
50802 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-660G>T |
None |
M0090242 |
JDOJADAF_00060 |
50975 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
440T>C |
Val147Ala |
M0090243 |
JDOJADAF_00060 |
51226 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
189C>T |
Leu63Leu |
M0090244 |
JDOJADAF_00061 |
51645 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
75A>G |
Ala25Ala |
M0090245 |
JDOJADAF_00029 |
24903 |
11 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1639A>G |
None |
M0090246 |
JDOJADAF_00029 |
24928 |
11 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1664A>G |
None |
M0090247 |
JDOJADAF_00029 |
24958 |
16 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1694T>C |
None |
M0090248 |
JDOJADAF_00029 |
25066 |
19 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1802A>G |
None |
M0090249 |
JDOJADAF_00033 |
25188 |
9 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
120G>C |
Leu40Leu |
M0090250 |
JDOJADAF_00033 |
25395 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
327A>G |
Val109Val |
M0090251 |
JDOJADAF_00033 |
25398 |
20 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
330G>A |
Val110Val |
M0090252 |
JDOJADAF_00033 |
25418 |
20 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
350C>G |
Ala117Gly |
M0090253 |
JDOJADAF_00033 |
25420 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
352T>C |
Leu118Leu |
M0090254 |
JDOJADAF_00033 |
25557 |
16 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
489C>T |
Leu163Leu |
M0090255 |
JDOJADAF_00033 |
25563 |
14 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
495G>C |
Thr165Thr |
M0090256 |
JDOJADAF_00033 |
25566 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
498G>A |
Val166Val |
M0090257 |
JDOJADAF_00033 |
25572 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
504A>G |
Ser168Ser |
M0090258 |
JDOJADAF_00033 |
25584 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
516G>A |
Leu172Leu |
M0090259 |
JDOJADAF_00033 |
25605 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
537G>A |
Val179Val |
M0090260 |
JDOJADAF_00033 |
26046 |
23 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
978T>C |
Ala326Ala |
M0090261 |
JDOJADAF_00033 |
26067 |
24 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
999A>G |
Leu333Leu |
M0090262 |
JDOJADAF_00033 |
26133 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1065A>G |
Lys355Lys |
M0090263 |
JDOJADAF_00033 |
26136 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1068A>G |
Val356Val |
M0090264 |
JDOJADAF_00033 |
26208 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1140G>A |
Arg380Arg |
M0090265 |
JDOJADAF_00033 |
26266 |
21 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1198T>C |
Leu400Leu |
M0090266 |
JDOJADAF_00033 |
26268 |
22 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1200G>A |
Leu400Leu |
M0090267 |
JDOJADAF_00033 |
26299 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1231G>A |
Ala411Thr |
M0090268 |
JDOJADAF_00033 |
26319 |
9 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1251A>T |
Leu417Leu |
M0090269 |
JDOJADAF_00034 |
26354 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
22T>C |
Phe8Leu |
M0090270 |
JDOJADAF_00034 |
26821 |
18 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
489A>C |
Gly163Gly |
M0090271 |
JDOJADAF_00034 |
27012 |
9 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
680A>G |
Gln227Arg |
M0090272 |
JDOJADAF_00034 |
27100 |
17 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
768T>C |
Ser256Ser |
M0090273 |
JDOJADAF_00034 |
27200 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
868A>G |
Lys290Glu |
M0090274 |
JDOJADAF_00034 |
27282 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
950A>C |
Asp317Ala |
M0090275 |
JDOJADAF_00035 |
27440 |
14 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
117T>G |
Val39Val |
M0090276 |
JDOJADAF_00035 |
27914 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
591G>C |
Ala197Ala |
M0090277 |
JDOJADAF_00035 |
27935 |
9 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
612G>A |
Leu204Leu |
M0090278 |
JDOJADAF_00035 |
27938 |
9 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
615T>G |
Val205Val |
M0090279 |
JDOJADAF_00035 |
27947 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
624G>C |
Leu208Leu |
M0090280 |
JDOJADAF_00035 |
27971 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
648C>A |
Ala216Ala |
M0090281 |
JDOJADAF_00035 |
27974 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
651A>G |
Leu217Leu |
M0090282 |
JDOJADAF_00035 |
27976 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
653G>C |
Gly218Ala |
M0090283 |
JDOJADAF_00035 |
27983 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
660C>T |
Ile220Ile |
M0090284 |
JDOJADAF_00035 |
27989 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
666C>G |
Ala222Ala |
M0090285 |
JDOJADAF_00035 |
27992 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
669A>T |
Arg223Arg |
M0090286 |
JDOJADAF_00035 |
27998 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
675T>C |
Ala225Ala |
M0090287 |
JDOJADAF_00035 |
28001 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
678G>A |
Leu226Leu |
M0090288 |
JDOJADAF_00035 |
28046 |
10 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
723T>A |
Ile241Ile |
M0090289 |
JDOJADAF_00035 |
28051 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
728C>T |
Ala243Val |
M0090290 |
JDOJADAF_00035 |
28067 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
744A>G |
Leu248Leu |
M0090291 |
JDOJADAF_00035 |
28070 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
747C>T |
Gly249Gly |
M0090292 |
JDOJADAF_00035 |
28072 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
749T>G |
Leu250Trp |
M0090293 |
JDOJADAF_00035 |
28139 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
816G>A |
Val272Val |
M0090294 |
JDOJADAF_00035 |
28169 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
846C>T |
Gly282Gly |
M0090295 |
JDOJADAF_00035 |
28180 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
857T>C |
Met286Thr |
M0090296 |
JDOJADAF_00035 |
28194 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
871C>T |
Leu291Leu |
M0090297 |
JDOJADAF_00035 |
28199 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
876G>T |
Ser292Ser |
M0090298 |
JDOJADAF_00035 |
28202 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
879G>T |
Val293Val |
M0090299 |
JDOJADAF_00035 |
28205 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
882A>C |
Ala294Ala |
M0090300 |
JDOJADAF_00035 |
28211 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
888T>A |
Val296Val |
M0090301 |
JDOJADAF_00035 |
28214 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
891G>A |
Gly297Gly |
M0090302 |
JDOJADAF_00035 |
28226 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
903G>A |
Ala301Ala |
M0090303 |
JDOJADAF_00035 |
28439 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1116A>G |
Leu372Leu |
M0090304 |
JDOJADAF_00033 |
25221 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
153A>G |
Gly51Gly |
M0090305 |
JDOJADAF_00033 |
25773 |
13 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
705G>A |
Glu235Glu |
M0090306 |
JDOJADAF_00033 |
25797 |
17 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
729A>G |
Val243Val |
M0090307 |
JDOJADAF_00033 |
25866 |
22 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
798G>A |
Leu266Leu |
M0090308 |
JDOJADAF_00033 |
25959 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
891T>C |
Asn297Asn |
M0090309 |
JDOJADAF_00033 |
26190 |
16 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1122G>A |
Leu374Leu |
M0090310 |
JDOJADAF_00034 |
26926 |
13 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
594T>C |
Thr198Thr |
M0090311 |
JDOJADAF_00034 |
27115 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
783G>A |
Val261Val |
M0090312 |
JDOJADAF_00035 |
28863 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1540A>C |
Ile514Leu |
M0090313 |
JDOJADAF_00033 |
26001 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
933G>C |
Val311Val |
M0090314 |
JDOJADAF_00033 |
26031 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
963G>A |
Ala321Ala |
M0090315 |
JDOJADAF_00029 |
26330 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3066T>C |
None |
M0090316 |
JDOJADAF_00034 |
26352 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
20C>T |
Ser7Phe |
M0090317 |
JDOJADAF_00034 |
26372 |
10 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
40A>G |
Thr14Ala |
M0090318 |
JDOJADAF_00034 |
26407 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
75A>G |
Leu25Leu |
M0090319 |
JDOJADAF_00034 |
26416 |
10 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
84A>G |
Lys28Lys |
M0090320 |
JDOJADAF_00034 |
26923 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
591T>C |
Ser197Ser |
M0090321 |
JDOJADAF_00034 |
27046 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
714G>A |
Thr238Thr |
M0090322 |
JDOJADAF_00034 |
27227 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
895G>A |
Val299Ile |
M0090323 |
JDOJADAF_00035 |
27972 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
649T>C |
Leu217Leu |
M0090324 |
JDOJADAF_00035 |
27977 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
654T>C |
Gly218Gly |
M0090325 |
JDOJADAF_00040 |
31421 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
186G>A |
Arg62Arg |
M0090326 |
JDOJADAF_00058 |
49668 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
475T>C |
Tyr159His |
M0090327 |
JDOJADAF_00058 |
49841 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
302A>G |
Glu101Gly |
M0090328 |
JDOJADAF_00060 |
50967 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
448A>G |
Ile150Val |
M0090329 |
JDOJADAF_00060 |
51019 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Gly132Gly |
M0090330 |
JDOJADAF_00060 |
51031 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
384A>G |
Lys128Lys |
M0090331 |
JDOJADAF_00060 |
51067 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
348T>G |
Ile116Met |
M0090332 |
JDOJADAF_00060 |
51106 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
309G>C |
Gly103Gly |
M0090333 |
JDOJADAF_00058 |
51444 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1302C>T |
None |
M0090334 |
JDOJADAF_00058 |
51505 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1363T>C |
None |
M0090335 |
JDOJADAF_00061 |
51687 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
117T>C |
Val39Val |
M0090336 |
JDOJADAF_00061 |
51717 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
147T>C |
Thr49Thr |
M0090337 |
JDOJADAF_00061 |
51729 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
159C>G |
Arg53Arg |
M0090338 |
JDOJADAF_00061 |
51744 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
174A>G |
Glu58Glu |
M0090339 |
JDOJADAF_00061 |
51750 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
180C>T |
Ile60Ile |
M0090340 |
JDOJADAF_00058 |
51877 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1735T>A |
None |
M0090341 |
JDOJADAF_00062 |
51897 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2538A>G |
Arg846Arg |
M0090342 |
JDOJADAF_00062 |
51901 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
2534G>A |
Ser845Asn |
M0090343 |
JDOJADAF_00062 |
51909 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
2526G>T |
Gln842His |
M0090344 |
JDOJADAF_00062 |
51911 |
5 |
Skin |
0.06 |
protein_coding |
stop_gained |
HIGH |
2524C>T |
Gln842* |
M0090345 |
JDOJADAF_00062 |
51912 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2523G>A |
Arg841Arg |
M0090346 |
JDOJADAF_00062 |
51930 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2505C>T |
Ser835Ser |
M0090347 |
JDOJADAF_00062 |
51943 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
2492A>C |
Gln831Pro |
M0090348 |
JDOJADAF_00062 |
51944 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
2491C>G |
Gln831Glu |
M0090349 |
JDOJADAF_00062 |
51946 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
2489G>A |
Gly830Glu |
M0090350 |
JDOJADAF_00062 |
51980 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
2455G>A |
Ala819Thr |
M0090351 |
JDOJADAF_00062 |
51999 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2436T>C |
Pro812Pro |
M0090352 |
JDOJADAF_00062 |
52010 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
2425C>A |
His809Asn |
M0090353 |
JDOJADAF_00062 |
52035 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2400A>G |
Thr800Thr |
M0090354 |
JDOJADAF_00062 |
52067 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
2368A>G |
Thr790Ala |
M0090355 |
JDOJADAF_00062 |
52089 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2346G>A |
Lys782Lys |
M0090356 |
JDOJADAF_00062 |
52104 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2331A>G |
Leu777Leu |
M0090357 |
JDOJADAF_00062 |
52295 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
2140A>G |
Asn714Asp |
M0090358 |
JDOJADAF_00062 |
52337 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
2098C>G |
Pro700Ala |
M0090359 |
JDOJADAF_00062 |
52344 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2091T>C |
His697His |
M0090360 |
JDOJADAF_00062 |
52365 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2070G>A |
Glu690Glu |
M0090361 |
JDOJADAF_00062 |
52366 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
2069A>G |
Glu690Gly |
M0090362 |
JDOJADAF_00062 |
52560 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1875G>A |
Glu625Glu |
M0090363 |
JDOJADAF_00062 |
52562 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1873G>A |
Glu625Lys |
M0090364 |
JDOJADAF_00062 |
52625 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1810A>G |
Thr604Ala |
M0090365 |
JDOJADAF_00062 |
52696 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1739G>A |
Gly580Glu |
M0090366 |
JDOJADAF_00062 |
52697 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1738G>C |
Gly580Arg |
M0090367 |
JDOJADAF_00062 |
52739 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1696A>G |
Thr566Ala |
M0090368 |
JDOJADAF_00062 |
52808 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1627G>A |
Ala543Thr |
M0090369 |
JDOJADAF_00062 |
52813 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1622G>A |
Ser541Asn |
M0090370 |
JDOJADAF_00062 |
52817 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1618C>G |
Pro540Ala |
M0090371 |
JDOJADAF_00062 |
52867 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1568A>G |
Glu523Gly |
M0090372 |
JDOJADAF_00062 |
52883 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1552G>T |
Asp518Tyr |
M0090373 |
JDOJADAF_00062 |
52916 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1519C>T |
His507Tyr |
M0090374 |
JDOJADAF_00062 |
53027 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1408C>T |
Pro470Ser |
M0090375 |
JDOJADAF_00062 |
53036 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1399A>G |
Ile467Val |
M0090376 |
JDOJADAF_00062 |
53063 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1372A>G |
Ile458Val |
M0090377 |
JDOJADAF_00062 |
53345 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1090A>G |
Asn364Asp |
M0090378 |
JDOJADAF_00062 |
53348 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1087C>T |
Pro363Ser |
M0090379 |
JDOJADAF_00062 |
53354 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1081A>C |
Ile361Leu |
M0090380 |
JDOJADAF_00062 |
53379 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1056A>C |
Glu352Asp |
M0090381 |
JDOJADAF_00062 |
53414 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1021C>A |
Pro341Thr |
M0090382 |
JDOJADAF_00062 |
53447 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
988G>A |
Glu330Lys |
M0090383 |
JDOJADAF_00062 |
53471 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
964A>G |
Lys322Glu |
M0090384 |
JDOJADAF_00062 |
53529 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
906G>A |
Lys302Lys |
M0090385 |
JDOJADAF_00062 |
53530 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
905A>G |
Lys302Arg |
M0090386 |
JDOJADAF_00062 |
53676 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
759A>T |
Pro253Pro |
M0090387 |
JDOJADAF_00062 |
53707 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
728A>G |
Lys243Arg |
M0090388 |
JDOJADAF_00062 |
53718 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
717C>T |
Thr239Thr |
M0090389 |
JDOJADAF_00062 |
53730 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
705G>A |
Val235Val |
M0090390 |
JDOJADAF_00062 |
53738 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
697A>G |
Ser233Gly |
M0090391 |
JDOJADAF_00062 |
53775 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
660T>G |
Asp220Glu |
M0090392 |
JDOJADAF_00062 |
53833 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
602G>A |
Arg201Gln |
M0090393 |
JDOJADAF_00062 |
53847 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
588T>A |
Thr196Thr |
M0090394 |
JDOJADAF_00062 |
53862 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
573C>A |
Val191Val |
M0090395 |
JDOJADAF_00062 |
53878 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
557G>A |
Arg186Lys |
M0090396 |
JDOJADAF_00062 |
53949 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
486T>C |
Pro162Pro |
M0090397 |
JDOJADAF_00062 |
53952 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
483C>T |
Asp161Asp |
M0090398 |
JDOJADAF_00062 |
54004 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
431A>G |
Lys144Arg |
M0090399 |
JDOJADAF_00062 |
54008 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
427T>C |
Leu143Leu |
M0090400 |
JDOJADAF_00062 |
54015 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
420T>G |
Asn140Lys |
M0090401 |
JDOJADAF_00062 |
54017 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
418A>G |
Asn140Asp |
M0090402 |
JDOJADAF_00062 |
54027 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
408A>G |
Val136Val |
M0090403 |
JDOJADAF_00062 |
54045 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
390C>T |
Ser130Ser |
M0090404 |
JDOJADAF_00062 |
54087 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
Arg116Arg |
M0090405 |
JDOJADAF_00062 |
54126 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
309G>A |
Glu103Glu |
M0090406 |
JDOJADAF_00062 |
54129 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
306G>A |
Gly102Gly |
M0090407 |
JDOJADAF_00062 |
54150 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
285A>G |
Leu95Leu |
M0090408 |
JDOJADAF_00062 |
54189 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
246C>A |
Ala82Ala |
M0090409 |
JDOJADAF_00062 |
54198 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
237C>T |
Ile79Ile |
M0090410 |
JDOJADAF_00062 |
54258 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
177T>C |
Gly59Gly |
M0090411 |
JDOJADAF_00062 |
54279 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
156A>T |
Glu52Asp |
M0090412 |
JDOJADAF_00062 |
54282 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
153T>G |
Val51Val |
M0090413 |
JDOJADAF_00062 |
54285 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
150A>G |
Glu50Glu |
M0090414 |
JDOJADAF_00062 |
54305 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
130A>C |
Arg44Arg |
M0090415 |
JDOJADAF_00062 |
54344 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
91G>T |
Val31Phe |
M0090416 |
JDOJADAF_00062 |
54369 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
66C>T |
Gly22Gly |
M0090417 |
JDOJADAF_00063 |
54488 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
408G>A |
Val136Val |
M0090418 |
JDOJADAF_00063 |
54500 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Ser132Ser |
M0090419 |
JDOJADAF_00063 |
54516 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
380T>C |
Leu127Ser |
M0090420 |
JDOJADAF_00063 |
54517 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
379T>G |
Leu127Val |
M0090421 |
JDOJADAF_00063 |
54528 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
368T>C |
Leu123Ser |
M0090422 |
JDOJADAF_00063 |
54590 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
306G>A |
Ser102Ser |
M0090423 |
JDOJADAF_00063 |
54601 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
295C>T |
Leu99Leu |
M0090424 |
JDOJADAF_00063 |
54608 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
288A>G |
Leu96Leu |
M0090425 |
JDOJADAF_00063 |
54671 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
225T>C |
Gly75Gly |
M0090426 |
JDOJADAF_00063 |
54728 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
168T>C |
Arg56Arg |
M0090427 |
JDOJADAF_00063 |
54776 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
120G>A |
Ala40Ala |
M0090428 |
JDOJADAF_00063 |
54782 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
114A>G |
Pro38Pro |
M0090429 |
JDOJADAF_00063 |
54820 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
76G>A |
Ala26Thr |
M0090430 |
JDOJADAF_00063 |
54877 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
19G>T |
Val7Phe |
M0090431 |
JDOJADAF_00058 |
54921 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4779T>C |
None |
M0090432 |
JDOJADAF_00058 |
54945 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4803A>G |
None |
M0090433 |
JDOJADAF_00058 |
54966 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4824C>T |
None |
M0090434 |
JDOJADAF_00058 |
54968 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4826A>C |
None |
M0090435 |
JDOJADAF_00058 |
54971 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4829C>T |
None |
M0090436 |
JDOJADAF_00058 |
54972 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4830A>G |
None |
M0090437 |
JDOJADAF_00058 |
54981 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4839T>A |
None |
M0090438 |
JDOJADAF_00058 |
54986 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4844C>T |
None |
M0090439 |
JDOJADAF_00058 |
55014 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4872G>T |
None |
M0090440 |
JDOJADAF_00058 |
55015 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4873C>T |
None |
M0090441 |
JDOJADAF_00058 |
55025 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4883G>A |
None |
M0090442 |
JDOJADAF_00058 |
55027 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4885C>T |
None |
M0090443 |
JDOJADAF_00058 |
55028 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4886A>C |
None |
M0090444 |
JDOJADAF_00058 |
55029 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4887G>C |
None |
M0090445 |
JDOJADAF_00058 |
55037 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4895T>C |
None |
M0090446 |
JDOJADAF_00058 |
55064 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4922C>T |
None |
M0090447 |
JDOJADAF_00058 |
55065 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4923T>A |
None |
M0090448 |
JDOJADAF_00058 |
55108 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4966T>C |
None |
M0090449 |
JDOJADAF_00058 |
55121 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4979A>C |
None |
M0090450 |
JDOJADAF_00059 |
55143 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4445T>C |
None |
M0090451 |
JDOJADAF_00064 |
55227 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
80G>A |
Ser27Asn |
M0090452 |
JDOJADAF_00064 |
55240 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
93A>G |
Gln31Gln |
M0090453 |
JDOJADAF_00064 |
55249 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
102G>A |
Leu34Leu |
M0090454 |
JDOJADAF_00064 |
55251 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
104T>C |
Ile35Thr |
M0090455 |
JDOJADAF_00064 |
55256 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
109G>C |
Glu37Gln |
M0090456 |
JDOJADAF_00064 |
55279 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
132G>T |
Glu44Asp |
M0090457 |
JDOJADAF_00064 |
55329 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
182T>C |
Val61Ala |
M0090458 |
JDOJADAF_00064 |
55333 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
186G>C |
Ala62Ala |
M0090459 |
JDOJADAF_00064 |
55342 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
195C>T |
Ser65Ser |
M0090460 |
JDOJADAF_00064 |
55374 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
227G>A |
Arg76Lys |
M0090461 |
JDOJADAF_00064 |
55417 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
270C>T |
Arg90Arg |
M0090462 |
JDOJADAF_00064 |
55429 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
282A>T |
Val94Val |
M0090463 |
JDOJADAF_00064 |
55435 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
288G>A |
Leu96Leu |
M0090464 |
JDOJADAF_00064 |
55438 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
291A>G |
Ser97Ser |
M0090465 |
JDOJADAF_00064 |
55441 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
294A>G |
Ala98Ala |
M0090466 |
JDOJADAF_00064 |
55526 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
379G>C |
Glu127Gln |
M0090467 |
JDOJADAF_00064 |
55528 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
381G>T |
Glu127Asp |
M0090468 |
JDOJADAF_00068 |
57480 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1064G>A |
Ser355Asn |
M0090469 |
JDOJADAF_00068 |
57497 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1047A>G |
Val349Val |
M0090470 |
JDOJADAF_00068 |
57548 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
996G>A |
Ser332Ser |
M0090471 |
JDOJADAF_00068 |
57566 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
978A>G |
Ala326Ala |
M0090472 |
JDOJADAF_00068 |
57569 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
975A>G |
Lys325Lys |
M0090473 |
JDOJADAF_00068 |
57584 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
960G>A |
Arg320Arg |
M0090474 |
JDOJADAF_00068 |
57637 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
907C>A |
Arg303Arg |
M0090475 |
JDOJADAF_00068 |
57785 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
759C>A |
Leu253Leu |
M0090476 |
JDOJADAF_00068 |
57797 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
747C>G |
Val249Val |
M0090477 |
JDOJADAF_00068 |
57800 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
744G>A |
Glu248Glu |
M0090478 |
JDOJADAF_00068 |
57857 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
687C>T |
Ile229Ile |
M0090479 |
JDOJADAF_00033 |
25433 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
365C>T |
Ala122Val |
M0090480 |
JDOJADAF_00033 |
26052 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
984T>G |
Gly328Gly |
M0090481 |
JDOJADAF_00056 |
46949 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
21C>T |
Ile7Ile |
M0090482 |
JDOJADAF_00056 |
46970 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
42G>A |
Leu14Leu |
M0090483 |
JDOJADAF_00056 |
47006 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
78A>G |
Gly26Gly |
M0090484 |
JDOJADAF_00056 |
47012 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
84G>A |
Ser28Ser |
M0090485 |
JDOJADAF_00056 |
47015 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
87T>C |
Ala29Ala |
M0090486 |
JDOJADAF_00056 |
47024 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
96A>G |
Gly32Gly |
M0090487 |
JDOJADAF_00056 |
47038 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
110A>G |
Lys37Arg |
M0090488 |
JDOJADAF_00056 |
47057 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
129A>G |
Leu43Leu |
M0090489 |
JDOJADAF_00056 |
47066 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
138A>G |
Glu46Glu |
M0090490 |
JDOJADAF_00056 |
47072 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
144T>G |
Asp48Glu |
M0090491 |
JDOJADAF_00056 |
47073 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
145T>C |
Leu49Leu |
M0090492 |
JDOJADAF_00056 |
47111 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
183A>T |
Ala61Ala |
M0090493 |
JDOJADAF_00056 |
47120 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
192T>C |
Tyr64Tyr |
M0090494 |
JDOJADAF_00056 |
47123 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
195T>C |
Ile65Ile |
M0090495 |
JDOJADAF_00056 |
47623 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
695C>A |
Pro232Gln |
M0090496 |
JDOJADAF_00057 |
48698 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
324A>G |
Lys108Lys |
M0090497 |
JDOJADAF_00001 |
817 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
617A>G |
Lys206Arg |
M0090498 |
JDOJADAF_00001 |
829 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
629A>T |
Glu210Val |
M0090499 |
JDOJADAF_00003 |
1090 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-176C>T |
None |
M0090500 |
JDOJADAF_00003 |
1108 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-158A>G |
None |
M0090501 |
JDOJADAF_00003 |
1114 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-152G>A |
None |
M0090502 |
JDOJADAF_00003 |
1301 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
36C>T |
Leu12Leu |
M0090503 |
JDOJADAF_00003 |
1306 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
41A>C |
Lys14Thr |
M0090504 |
JDOJADAF_00003 |
1500 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
235A>G |
Asn79Asp |
M0090505 |
JDOJADAF_00003 |
1502 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
237C>T |
Asn79Asn |
M0090506 |
JDOJADAF_00003 |
1503 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
238T>G |
Tyr80Asp |
M0090507 |
JDOJADAF_00003 |
1532 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
267A>G |
Leu89Leu |
M0090508 |
JDOJADAF_00003 |
1537 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
272G>C |
Gly91Ala |
M0090509 |
JDOJADAF_00003 |
1601 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
336A>G |
Lys112Lys |
M0090510 |
JDOJADAF_00003 |
1607 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
342T>C |
Arg114Arg |
M0090511 |
JDOJADAF_00003 |
1614 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
349G>A |
Val117Ile |
M0090512 |
JDOJADAF_00003 |
1622 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
357A>C |
Thr119Thr |
M0090513 |
JDOJADAF_00003 |
1706 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
441A>G |
Ala147Ala |
M0090514 |
JDOJADAF_00003 |
1754 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
489A>G |
Glu163Glu |
M0090515 |
JDOJADAF_00003 |
1796 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
531A>G |
Leu177Leu |
M0090516 |
JDOJADAF_00033 |
25809 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
741T>C |
Tyr247Tyr |
M0090517 |
JDOJADAF_00033 |
25812 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
744G>C |
Ala248Ala |
M0090518 |
JDOJADAF_00033 |
25824 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
756C>T |
His252His |
M0090519 |
JDOJADAF_00033 |
25830 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
762T>C |
His254His |
M0090520 |
JDOJADAF_00033 |
25833 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
765A>G |
Leu255Leu |
M0090521 |
JDOJADAF_00033 |
25836 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
768A>T |
Ser256Ser |
M0090522 |
JDOJADAF_00033 |
25842 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
774A>G |
Pro258Pro |
M0090523 |
JDOJADAF_00033 |
25857 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
789C>T |
Val263Val |
M0090524 |
JDOJADAF_00035 |
27406 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
83C>T |
Thr28Ile |
M0090525 |
JDOJADAF_00035 |
27581 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
258A>G |
Lys86Lys |
M0090526 |
JDOJADAF_00033 |
25404 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
336C>T |
Thr112Thr |
M0090527 |
JDOJADAF_00033 |
25434 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
366C>T |
Ala122Ala |
M0090528 |
JDOJADAF_00033 |
25440 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
372A>G |
Gln124Gln |
M0090529 |
JDOJADAF_00033 |
25980 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
912T>C |
Ile304Ile |
M0090530 |
JDOJADAF_00035 |
27635 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
312T>C |
His104His |
M0090531 |
JDOJADAF_00047 |
44581 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3982C>G |
None |
M0090532 |
JDOJADAF_00053 |
44645 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
11A>G |
His4Arg |
M0090533 |
JDOJADAF_00053 |
44854 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
220C>G |
Leu74Val |
M0090534 |
JDOJADAF_00053 |
45258 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
624T>C |
Asn208Asn |
M0090535 |
JDOJADAF_00053 |
45265 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
631T>G |
Phe211Val |
M0090536 |
JDOJADAF_00053 |
45298 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
664G>T |
Val222Leu |
M0090537 |
JDOJADAF_00053 |
45416 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
782A>G |
Asn261Ser |
M0090538 |
JDOJADAF_00053 |
45429 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
795A>G |
Leu265Leu |
M0090539 |
JDOJADAF_00053 |
45588 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
954C>T |
Tyr318Tyr |
M0090540 |
JDOJADAF_00053 |
45698 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1064G>A |
Arg355Lys |
M0090541 |
JDOJADAF_00054 |
46348 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
597A>G |
Val199Val |
M0090542 |
JDOJADAF_00054 |
46369 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
618G>A |
Lys206Lys |
M0090543 |
JDOJADAF_00049 |
46383 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3656G>A |
None |
M0090544 |
JDOJADAF_00049 |
46393 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3666C>A |
None |
M0090545 |
JDOJADAF_00055 |
46416 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
21A>C |
Thr7Thr |
M0090546 |
JDOJADAF_00055 |
46428 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
33T>A |
His11Gln |
M0090547 |
JDOJADAF_00055 |
46431 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
36G>T |
Ala12Ala |
M0090548 |
JDOJADAF_00055 |
46440 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
45T>C |
Asn15Asn |
M0090549 |
JDOJADAF_00055 |
46449 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
54A>C |
Ala18Ala |
M0090550 |
JDOJADAF_00055 |
46509 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
114C>T |
Ser38Ser |
M0090551 |
JDOJADAF_00055 |
46540 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
145C>T |
Leu49Leu |
M0090552 |
JDOJADAF_00055 |
46647 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
252C>T |
Thr84Thr |
M0090553 |
JDOJADAF_00055 |
46653 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
258C>G |
Asp86Glu |
M0090554 |
JDOJADAF_00055 |
46656 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
261A>G |
Thr87Thr |
M0090555 |
JDOJADAF_00029 |
24288 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1024T>C |
None |
M0090556 |
JDOJADAF_00032 |
24494 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
75A>G |
Glu25Glu |
M0090557 |
JDOJADAF_00032 |
24509 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
60T>A |
Gly20Gly |
M0090558 |
JDOJADAF_00032 |
24513 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
56C>T |
Ala19Val |
M0090559 |
JDOJADAF_00032 |
24514 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
55G>C |
Ala19Pro |
M0090560 |
JDOJADAF_00029 |
24781 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1517T>C |
None |
M0090561 |
JDOJADAF_00029 |
24829 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1565C>A |
None |
M0090562 |
JDOJADAF_00029 |
24845 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1581G>C |
None |
M0090563 |
JDOJADAF_00033 |
25560 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
492C>T |
Asn164Asn |
M0090564 |
JDOJADAF_00033 |
25821 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
753T>C |
Ser251Ser |
M0090565 |
JDOJADAF_00025 |
17911 |
9 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
12A>G |
Lys4Lys |
M0090566 |
JDOJADAF_00025 |
17919 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
20A>G |
Asn7Ser |
M0090567 |
JDOJADAF_00025 |
17920 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
21T>C |
Asn7Asn |
M0090568 |
JDOJADAF_00025 |
17924 |
10 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
25T>G |
Phe9Val |
M0090569 |
JDOJADAF_00016 |
18060 |
11 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3802T>C |
None |
M0090570 |
JDOJADAF_00016 |
18136 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3878A>G |
None |
M0090571 |
JDOJADAF_00026 |
18416 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
93A>G |
Arg31Arg |
M0090572 |
JDOJADAF_00026 |
18603 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
280C>T |
Pro94Ser |
M0090573 |
JDOJADAF_00026 |
18614 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
291G>A |
Thr97Thr |
M0090574 |
JDOJADAF_00026 |
18615 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
292T>G |
Phe98Val |
M0090575 |
JDOJADAF_00026 |
18635 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Asn104Asn |
M0090576 |
JDOJADAF_00026 |
18641 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
318C>T |
Gly106Gly |
M0090577 |
JDOJADAF_00026 |
18668 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
345G>C |
Gly115Gly |
M0090578 |
JDOJADAF_00026 |
18677 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
354A>T |
Thr118Thr |
M0090579 |
JDOJADAF_00026 |
18686 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
363A>T |
Val121Val |
M0090580 |
JDOJADAF_00026 |
18709 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
386A>C |
Tyr129Ser |
M0090581 |
JDOJADAF_00026 |
18995 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
672T>C |
Gly224Gly |
M0090582 |
JDOJADAF_00026 |
19052 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
729A>T |
Gly243Gly |
M0090583 |
JDOJADAF_00016 |
19234 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4976T>C |
None |
M0090584 |
JDOJADAF_00017 |
19346 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4862T>C |
None |
M0090585 |
JDOJADAF_00017 |
19356 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4872A>G |
None |
M0090586 |
JDOJADAF_00027 |
19398 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
19G>A |
Val7Ile |
M0090587 |
JDOJADAF_00042 |
34203 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
102C>A |
Gly34Gly |
M0090588 |
JDOJADAF_00042 |
34705 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
604T>C |
Tyr202His |
M0090589 |
JDOJADAF_00043 |
35159 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
120G>A |
Lys40Lys |
M0090590 |
JDOJADAF_00016 |
14074 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
185G>A |
Arg62Lys |
M0090591 |
JDOJADAF_00029 |
24902 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1638G>T |
None |
M0090592 |
JDOJADAF_00045 |
38513 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
624T>C |
Asn208Asn |
M0090593 |
JDOJADAF_00045 |
38546 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
657G>T |
Lys219Asn |
M0090594 |
JDOJADAF_00039 |
30480 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
200A>G |
Asp67Gly |
M0090595 |
JDOJADAF_00055 |
46704 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
309C>T |
Tyr103Tyr |
M0090596 |
JDOJADAF_00055 |
46723 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
328T>A |
Ser110Thr |
M0090597 |
JDOJADAF_00055 |
46725 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
330A>T |
Ser110Ser |
M0090598 |
JDOJADAF_00055 |
46743 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
348A>C |
Pro116Pro |
M0090599 |
JDOJADAF_00055 |
46749 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
354G>A |
Glu118Glu |
M0090600 |
JDOJADAF_00055 |
46752 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
357T>C |
Leu119Leu |
M0090601 |
JDOJADAF_00055 |
46758 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
363G>A |
Val121Val |
M0090602 |
JDOJADAF_00055 |
46767 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
372C>T |
Gly124Gly |
M0090603 |
JDOJADAF_00055 |
46773 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
378G>A |
Lys126Lys |
M0090604 |
JDOJADAF_00055 |
46776 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
381C>T |
Pro127Pro |
M0090605 |
JDOJADAF_00055 |
46827 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
432C>T |
Asn144Asn |
M0090606 |
JDOJADAF_00003 |
1192 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-74T>C |
None |
M0090607 |
JDOJADAF_00003 |
1220 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-46A>T |
None |
M0090608 |
JDOJADAF_00003 |
1487 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
222G>A |
Lys74Lys |
M0090609 |
JDOJADAF_00003 |
1904 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
639T>G |
Gly213Gly |
M0090610 |
JDOJADAF_00003 |
1913 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
648T>C |
Asp216Asp |
M0090611 |
JDOJADAF_00003 |
1922 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
657C>T |
Ser219Ser |
M0090612 |
JDOJADAF_00003 |
1934 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
669C>G |
Thr223Thr |
M0090613 |
JDOJADAF_00003 |
1946 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
681C>G |
Thr227Thr |
M0090614 |
JDOJADAF_00003 |
1953 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
688A>G |
Thr230Ala |
M0090615 |
JDOJADAF_00003 |
1958 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
693T>C |
Asp231Asp |
M0090616 |
JDOJADAF_00003 |
1985 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
720T>A |
His240Gln |
M0090617 |
JDOJADAF_00003 |
1988 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
723T>C |
Asp241Asp |
M0090618 |
JDOJADAF_00003 |
1989 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
724T>C |
Leu242Leu |
M0090619 |
JDOJADAF_00003 |
1991 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
726A>G |
Leu242Leu |
M0090620 |
JDOJADAF_00003 |
2069 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
804G>C |
Val268Val |
M0090621 |
JDOJADAF_00003 |
2075 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
810T>C |
Gly270Gly |
M0090622 |
JDOJADAF_00003 |
2120 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
855C>A |
Arg285Arg |
M0090623 |
JDOJADAF_00003 |
2123 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
858A>T |
Thr286Thr |
M0090624 |
JDOJADAF_00003 |
2138 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
873T>C |
Leu291Leu |
M0090625 |
JDOJADAF_00003 |
2147 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
882A>C |
Ala294Ala |
M0090626 |
JDOJADAF_00003 |
2148 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
883C>A |
Arg295Arg |
M0090627 |
JDOJADAF_00003 |
2149 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
884G>A |
Arg295Gln |
M0090628 |
JDOJADAF_00003 |
2156 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
891T>C |
Asn297Asn |
M0090629 |
JDOJADAF_00003 |
2165 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
900G>A |
Glu300Glu |
M0090630 |
JDOJADAF_00003 |
2340 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1075A>G |
Thr359Ala |
M0090631 |
JDOJADAF_00003 |
2372 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1107C>T |
Asp369Asp |
M0090632 |
JDOJADAF_00003 |
2376 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1111T>C |
Leu371Leu |
M0090633 |
JDOJADAF_00003 |
2381 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1116G>A |
Leu372Leu |
M0090634 |
JDOJADAF_00029 |
22526 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
739A>G |
Asn247Asp |
M0090635 |
JDOJADAF_00003 |
2216 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
951A>G |
Gln317Gln |
M0090636 |
JDOJADAF_00003 |
2246 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
981A>G |
Thr327Thr |
M0090637 |
JDOJADAF_00003 |
2249 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
984G>A |
Ser328Ser |
M0090638 |
JDOJADAF_00003 |
2261 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
996T>C |
Ile332Ile |
M0090639 |
JDOJADAF_00003 |
2495 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1230A>G |
Leu410Leu |
M0090640 |
JDOJADAF_00003 |
2717 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1452G>T |
Gln484His |
M0090641 |
JDOJADAF_00003 |
2732 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1467G>C |
Arg489Arg |
M0090642 |
JDOJADAF_00003 |
2735 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1470T>G |
Leu490Leu |
M0090643 |
JDOJADAF_00003 |
2777 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1512C>T |
Ile504Ile |
M0090644 |
JDOJADAF_00003 |
2789 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1524T>C |
Gly508Gly |
M0090645 |
JDOJADAF_00003 |
2912 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1647C>G |
Gly549Gly |
M0090646 |
JDOJADAF_00003 |
3110 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1845A>G |
Val615Val |
M0090647 |
JDOJADAF_00016 |
17875 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3617A>G |
None |
M0090648 |
JDOJADAF_00025 |
18014 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
115C>A |
Leu39Met |
M0090649 |
JDOJADAF_00016 |
18075 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3817T>C |
None |
M0090650 |
JDOJADAF_00026 |
18492 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
169C>T |
Leu57Leu |
M0090651 |
JDOJADAF_00026 |
18503 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
180G>A |
Ala60Ala |
M0090652 |
JDOJADAF_00026 |
18518 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
195C>G |
Val65Val |
M0090653 |
JDOJADAF_00026 |
18626 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
303T>C |
Ile101Ile |
M0090654 |
JDOJADAF_00026 |
18941 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
618G>C |
Gly206Gly |
M0090655 |
JDOJADAF_00026 |
18956 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
633C>G |
Val211Val |
M0090656 |
JDOJADAF_00026 |
18959 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
636T>A |
Val212Val |
M0090657 |
JDOJADAF_00026 |
18977 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
654A>C |
Pro218Pro |
M0090658 |
JDOJADAF_00026 |
19126 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
803G>A |
Ser268Asn |
M0090659 |
JDOJADAF_00026 |
19140 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
817G>A |
Asp273Asn |
M0090660 |
JDOJADAF_00016 |
18124 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3866T>G |
None |
M0090661 |
JDOJADAF_00016 |
18187 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3929A>G |
None |
M0090662 |
JDOJADAF_00026 |
19040 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
717A>G |
Pro239Pro |
M0090663 |
JDOJADAF_00029 |
24895 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1631C>G |
None |
M0090664 |
JDOJADAF_00035 |
27682 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
359T>C |
Met120Thr |
M0090665 |
JDOJADAF_00024 |
17703 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
141T>C |
Thr47Thr |
M0090666 |
JDOJADAF_00025 |
17949 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
50C>G |
Thr17Ser |
M0090667 |
JDOJADAF_00016 |
18064 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3806C>T |
None |
M0090668 |
JDOJADAF_00016 |
18087 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3829A>G |
None |
M0090669 |
JDOJADAF_00008 |
7950 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1233C>G |
Leu411Leu |
M0090670 |
JDOJADAF_00026 |
18857 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
534C>A |
Gly178Gly |
M0090671 |
JDOJADAF_00026 |
18860 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
537A>T |
Val179Val |
M0090672 |
JDOJADAF_00016 |
18201 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3943T>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 |