Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C681 |
Reference Plasmid |
NZ_CP046561.1 |
Reference Plasmid Size |
62815 |
Reference Plasmid GC Content |
0.51 |
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 |
M0097341 |
MBDGPIKF_00022 |
23443 |
7 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
312C>A |
Asn104Lys |
M0097342 |
MBDGPIKF_00022 |
23464 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
333T>C |
Asn111Asn |
M0097343 |
MBDGPIKF_00022 |
23476 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
345A>G |
Gln115Gln |
M0097344 |
MBDGPIKF_00022 |
23503 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
372A>G |
Gln124Gln |
M0097345 |
MBDGPIKF_00022 |
23518 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
387C>T |
Asn129Asn |
M0097346 |
MBDGPIKF_00022 |
23563 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
432A>G |
Glu144Glu |
M0097347 |
MBDGPIKF_00022 |
23658 |
7 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
527C>T |
Ala176Val |
M0097348 |
MBDGPIKF_00022 |
23674 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
543C>G |
Thr181Thr |
M0097349 |
MBDGPIKF_00022 |
23683 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
552G>A |
Pro184Pro |
M0097350 |
MBDGPIKF_00022 |
23684 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
553C>T |
Leu185Leu |
M0097351 |
MBDGPIKF_00022 |
23713 |
7 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
582G>C |
Leu194Phe |
M0097352 |
MBDGPIKF_00022 |
23724 |
7 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
593G>T |
Gly198Val |
M0097353 |
MBDGPIKF_00022 |
23749 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
618A>T |
Ala206Ala |
M0097354 |
MBDGPIKF_00022 |
23774 |
7 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
643A>G |
Asn215Asp |
M0097355 |
MBDGPIKF_00022 |
23827 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
696T>C |
Ala232Ala |
M0097356 |
MBDGPIKF_00022 |
23890 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
759A>C |
Arg253Arg |
M0097357 |
MBDGPIKF_00022 |
23944 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
813T>C |
Leu271Leu |
M0097358 |
MBDGPIKF_00022 |
23958 |
7 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
827T>C |
Val276Ala |
M0097359 |
MBDGPIKF_00022 |
23968 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
837A>C |
Ala279Ala |
M0097360 |
MBDGPIKF_00022 |
23971 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
840G>A |
Glu280Glu |
M0097361 |
MBDGPIKF_00022 |
23978 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
847C>T |
Leu283Leu |
M0097362 |
MBDGPIKF_00022 |
24004 |
8 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
873A>G |
Gly291Gly |
M0097363 |
MBDGPIKF_00022 |
24070 |
8 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
939T>A |
Val313Val |
M0097364 |
MBDGPIKF_00022 |
24169 |
8 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
1038A>G |
Lys346Lys |
M0097365 |
MBDGPIKF_00022 |
24180 |
8 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
1049T>C |
Met350Thr |
M0097366 |
MBDGPIKF_00022 |
24235 |
8 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
1104T>G |
Ala368Ala |
M0097367 |
MBDGPIKF_00022 |
24246 |
8 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
1115T>G |
Leu372Arg |
M0097368 |
MBDGPIKF_00022 |
24287 |
8 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
1156T>A |
Ser386Thr |
M0097369 |
MBDGPIKF_00022 |
24305 |
8 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
1174G>A |
Ala392Thr |
M0097370 |
MBDGPIKF_00022 |
24339 |
8 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
1208T>C |
Val403Ala |
M0097371 |
MBDGPIKF_00022 |
24346 |
8 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
1215T>G |
Gly405Gly |
M0097372 |
MBDGPIKF_00022 |
24378 |
8 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
1247T>C |
Val416Ala |
M0097373 |
MBDGPIKF_00022 |
24384 |
8 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
1253A>G |
Asn418Ser |
M0097374 |
MBDGPIKF_00022 |
24466 |
8 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
1335T>C |
Arg445Arg |
M0097375 |
MBDGPIKF_00022 |
24517 |
8 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
1386T>C |
Asn462Asn |
M0097376 |
MBDGPIKF_00022 |
24523 |
8 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
1392A>G |
Leu464Leu |
M0097377 |
MBDGPIKF_00022 |
24536 |
8 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
1405A>G |
Lys469Glu |
M0097378 |
MBDGPIKF_00022 |
24577 |
8 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
1446A>C |
Ala482Ala |
M0097379 |
MBDGPIKF_00022 |
24586 |
8 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
1455G>A |
Arg485Arg |
M0097380 |
MBDGPIKF_00023 |
24648 |
8 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
47C>T |
Ala16Val |
M0097381 |
MBDGPIKF_00023 |
24656 |
8 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
55G>A |
Ala19Thr |
M0097382 |
MBDGPIKF_00023 |
24725 |
8 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
124A>G |
Ser42Gly |
M0097383 |
MBDGPIKF_00023 |
24848 |
8 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
247A>G |
Lys83Glu |
M0097384 |
MBDGPIKF_00023 |
24878 |
8 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
277T>C |
Phe93Leu |
M0097385 |
MBDGPIKF_00023 |
24880 |
8 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
279T>G |
Phe93Leu |
M0097386 |
MBDGPIKF_00023 |
24915 |
7 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
314A>G |
Asp105Gly |
M0097387 |
MBDGPIKF_00023 |
24925 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
324A>G |
Lys108Lys |
M0097388 |
MBDGPIKF_00023 |
24957 |
7 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
356C>T |
Ala119Val |
M0097389 |
MBDGPIKF_00023 |
24974 |
7 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
373T>G |
Ser125Ala |
M0097390 |
MBDGPIKF_00023 |
25047 |
7 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
446T>C |
Val149Ala |
M0097391 |
MBDGPIKF_00023 |
25072 |
7 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
471A>G |
Ala157Ala |
M0097392 |
MBDGPIKF_00023 |
25077 |
7 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
476T>C |
Val159Ala |
M0097393 |
MBDGPIKF_00023 |
25170 |
7 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
569G>A |
Arg190Gln |
M0097394 |
MBDGPIKF_00024 |
25242 |
6 |
Skin |
0.40 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-16A>T |
None |
M0097395 |
MBDGPIKF_00024 |
25251 |
6 |
Skin |
0.40 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-7T>A |
None |
M0097396 |
MBDGPIKF_00024 |
25307 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
50A>C |
Tyr17Ser |
M0097397 |
MBDGPIKF_00024 |
25320 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
63T>C |
Pro21Pro |
M0097398 |
MBDGPIKF_00024 |
25347 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
90A>G |
Gln30Gln |
M0097399 |
MBDGPIKF_00024 |
25355 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
98G>A |
Arg33Gln |
M0097400 |
MBDGPIKF_00024 |
25356 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
99A>G |
Arg33Arg |
M0097401 |
MBDGPIKF_00024 |
25362 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
105C>T |
Pro35Pro |
M0097402 |
MBDGPIKF_00024 |
25405 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
148A>T |
Ser50Cys |
M0097403 |
MBDGPIKF_00024 |
25418 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
161T>G |
Leu54Arg |
M0097404 |
MBDGPIKF_00024 |
25439 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
182A>G |
Gln61Arg |
M0097405 |
MBDGPIKF_00024 |
25456 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
199A>G |
Lys67Glu |
M0097406 |
MBDGPIKF_00024 |
25457 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
200A>C |
Lys67Thr |
M0097407 |
MBDGPIKF_00024 |
25458 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
201A>G |
Lys67Lys |
M0097408 |
MBDGPIKF_00024 |
25468 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
211G>A |
Val71Ile |
M0097409 |
MBDGPIKF_00024 |
25470 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
213A>C |
Val71Val |
M0097410 |
MBDGPIKF_00024 |
25491 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
234A>G |
Gln78Gln |
M0097411 |
MBDGPIKF_00024 |
25497 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
240G>A |
Ser80Ser |
M0097412 |
MBDGPIKF_00024 |
25506 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
249C>T |
Arg83Arg |
M0097413 |
MBDGPIKF_00024 |
25563 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
306G>C |
Arg102Arg |
M0097414 |
MBDGPIKF_00024 |
25570 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
313A>C |
Met105Leu |
M0097415 |
MBDGPIKF_00024 |
25578 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
321A>G |
Arg107Arg |
M0097416 |
MBDGPIKF_00024 |
25590 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
333A>G |
Lys111Lys |
M0097417 |
MBDGPIKF_00024 |
25601 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
344C>T |
Ala115Val |
M0097418 |
MBDGPIKF_00024 |
25625 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
368A>G |
Asn123Ser |
M0097419 |
MBDGPIKF_00024 |
25650 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
393A>G |
Thr131Thr |
M0097420 |
MBDGPIKF_00024 |
25658 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
401G>A |
Ser134Asn |
M0097421 |
MBDGPIKF_00024 |
25680 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
423A>C |
Ser141Ser |
M0097422 |
MBDGPIKF_00025 |
25695 |
5 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-12T>C |
None |
M0097423 |
MBDGPIKF_00025 |
25712 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
6T>A |
Asp2Glu |
M0097424 |
MBDGPIKF_00025 |
25713 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
7A>C |
Thr3Pro |
M0097425 |
MBDGPIKF_00025 |
25715 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
9A>G |
Thr3Thr |
M0097426 |
MBDGPIKF_00025 |
25743 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
37A>G |
Asn13Asp |
M0097427 |
MBDGPIKF_00025 |
25751 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
45A>T |
Val15Val |
M0097428 |
MBDGPIKF_00025 |
25770 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
64T>C |
Phe22Leu |
M0097429 |
MBDGPIKF_00025 |
25785 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
79A>G |
Ile27Val |
M0097430 |
MBDGPIKF_00025 |
25838 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
132A>G |
Leu44Leu |
M0097431 |
MBDGPIKF_00025 |
25841 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
135T>G |
Val45Val |
M0097432 |
MBDGPIKF_00025 |
25850 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
144T>C |
Ser48Ser |
M0097433 |
MBDGPIKF_00026 |
25870 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
9T>G |
His3Gln |
M0097434 |
MBDGPIKF_00026 |
25873 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
12T>C |
Pro4Pro |
M0097435 |
MBDGPIKF_00026 |
25897 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
36G>A |
Ala12Ala |
M0097436 |
MBDGPIKF_00026 |
25909 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
48G>A |
Val16Val |
M0097437 |
MBDGPIKF_00026 |
25930 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
69T>C |
Tyr23Tyr |
M0097438 |
MBDGPIKF_00026 |
25934 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
73T>C |
Leu25Leu |
M0097439 |
MBDGPIKF_00026 |
25974 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
113T>C |
Val38Ala |
M0097440 |
MBDGPIKF_00026 |
25978 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
117T>C |
Cys39Cys |
M0097441 |
MBDGPIKF_00026 |
25984 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
123A>C |
Pro41Pro |
M0097442 |
MBDGPIKF_00026 |
25990 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
129T>G |
Pro43Pro |
M0097443 |
MBDGPIKF_00037 |
31918 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
50C>G |
Ala17Gly |
M0097444 |
MBDGPIKF_00037 |
31946 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
78C>T |
Asp26Asp |
M0097445 |
MBDGPIKF_00037 |
31953 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
85T>C |
Leu29Leu |
M0097446 |
MBDGPIKF_00037 |
31958 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
90C>G |
Ala30Ala |
M0097447 |
MBDGPIKF_00037 |
31959 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
91T>G |
Leu31Val |
M0097448 |
MBDGPIKF_00037 |
31976 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
108C>T |
Ala36Ala |
M0097449 |
MBDGPIKF_00037 |
32028 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
160A>G |
Thr54Ala |
M0097450 |
MBDGPIKF_00037 |
32051 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
183C>T |
Val61Val |
M0097451 |
MBDGPIKF_00037 |
32129 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
261G>A |
Thr87Thr |
M0097452 |
MBDGPIKF_00037 |
32138 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
270A>G |
Arg90Arg |
M0097453 |
MBDGPIKF_00037 |
32159 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
291T>C |
Thr97Thr |
M0097454 |
MBDGPIKF_00037 |
32165 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
297A>G |
Arg99Arg |
M0097455 |
MBDGPIKF_00037 |
32204 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
336C>T |
Asp112Asp |
M0097456 |
MBDGPIKF_00037 |
32216 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
His116His |
M0097457 |
MBDGPIKF_00037 |
32260 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
392T>C |
Met131Thr |
M0097458 |
MBDGPIKF_00037 |
32300 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
432G>A |
Gly144Gly |
M0097459 |
MBDGPIKF_00037 |
32387 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
519A>T |
Ala173Ala |
M0097460 |
MBDGPIKF_00037 |
32392 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
524G>T |
Gly175Val |
M0097461 |
MBDGPIKF_00037 |
32400 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
532A>G |
Thr178Ala |
M0097462 |
MBDGPIKF_00037 |
32417 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
549C>A |
His183Gln |
M0097463 |
MBDGPIKF_00037 |
32420 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
552T>A |
Leu184Leu |
M0097464 |
MBDGPIKF_00037 |
32456 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
588T>C |
Gly196Gly |
M0097465 |
MBDGPIKF_00037 |
32468 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
600C>G |
Gly200Gly |
M0097466 |
MBDGPIKF_00037 |
32528 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
660A>T |
Ile220Ile |
M0097467 |
MBDGPIKF_00037 |
32583 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
715A>G |
Ile239Val |
M0097468 |
MBDGPIKF_00037 |
32591 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
723C>T |
Thr241Thr |
M0097469 |
MBDGPIKF_00037 |
32600 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
732T>G |
Val244Val |
M0097470 |
MBDGPIKF_00037 |
32754 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
886T>C |
Leu296Leu |
M0097471 |
MBDGPIKF_00037 |
32820 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
952T>C |
Leu318Leu |
M0097472 |
MBDGPIKF_00037 |
32835 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
967T>G |
Ser323Ala |
M0097473 |
MBDGPIKF_00037 |
32867 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
999T>C |
Ser333Ser |
M0097474 |
MBDGPIKF_00037 |
32918 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1050A>G |
Arg350Arg |
M0097475 |
MBDGPIKF_00037 |
32954 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1086A>G |
Val362Val |
M0097476 |
MBDGPIKF_00037 |
32955 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1087A>C |
Met363Leu |
M0097477 |
MBDGPIKF_00037 |
33010 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1142G>T |
Arg381Met |
M0097478 |
MBDGPIKF_00037 |
33032 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1164A>G |
Val388Val |
M0097479 |
MBDGPIKF_00037 |
33063 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1195T>A |
Cys399Ser |
M0097480 |
MBDGPIKF_00037 |
33136 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1268A>G |
Asn423Ser |
M0097481 |
MBDGPIKF_00037 |
33175 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1307A>G |
Tyr436Cys |
M0097482 |
MBDGPIKF_00037 |
33213 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1345T>G |
Cys449Gly |
M0097483 |
MBDGPIKF_00037 |
33219 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1351C>T |
Leu451Leu |
M0097484 |
MBDGPIKF_00037 |
33275 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1407T>A |
Gly469Gly |
M0097485 |
MBDGPIKF_00037 |
33278 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1410T>C |
Asn470Asn |
M0097486 |
MBDGPIKF_00037 |
33326 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1458A>G |
Ala486Ala |
M0097487 |
MBDGPIKF_00037 |
33356 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1488T>C |
Tyr496Tyr |
M0097488 |
MBDGPIKF_00037 |
33368 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1500C>T |
Ala500Ala |
M0097489 |
MBDGPIKF_00037 |
33458 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1590T>A |
Ala530Ala |
M0097490 |
MBDGPIKF_00037 |
33488 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1620T>G |
Thr540Thr |
M0097491 |
MBDGPIKF_00037 |
33533 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1665A>G |
Val555Val |
M0097492 |
MBDGPIKF_00037 |
33554 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1686G>A |
Val562Val |
M0097493 |
MBDGPIKF_00037 |
33660 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1792G>A |
Val598Ile |
M0097494 |
MBDGPIKF_00037 |
33671 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1803C>T |
Thr601Thr |
M0097495 |
MBDGPIKF_00037 |
33743 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1875A>G |
Leu625Leu |
M0097496 |
MBDGPIKF_00037 |
33758 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1890A>G |
Glu630Glu |
M0097497 |
MBDGPIKF_00037 |
33777 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1909A>G |
Ile637Val |
M0097498 |
MBDGPIKF_00037 |
33783 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1915A>G |
Thr639Ala |
M0097499 |
MBDGPIKF_00037 |
33816 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1948A>G |
Arg650Gly |
M0097500 |
MBDGPIKF_00037 |
33882 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
2014T>C |
Tyr672His |
M0097501 |
MBDGPIKF_00037 |
33896 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
2028C>T |
Leu676Leu |
M0097502 |
MBDGPIKF_00038 |
33955 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
40A>G |
Lys14Glu |
M0097503 |
MBDGPIKF_00038 |
33960 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
45T>G |
Ser15Ser |
M0097504 |
MBDGPIKF_00038 |
33969 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
54A>G |
Pro18Pro |
M0097505 |
MBDGPIKF_00038 |
33985 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
70A>C |
Lys24Gln |
M0097506 |
MBDGPIKF_00038 |
33996 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
81A>G |
Leu27Leu |
M0097507 |
MBDGPIKF_00038 |
34002 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
87T>C |
Thr29Thr |
M0097508 |
MBDGPIKF_00038 |
34008 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Arg31Arg |
M0097509 |
MBDGPIKF_00038 |
34038 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
123A>C |
Lys41Asn |
M0097510 |
MBDGPIKF_00038 |
34053 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
138C>T |
Gly46Gly |
M0097511 |
MBDGPIKF_00038 |
34065 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
150A>T |
Gly50Gly |
M0097512 |
MBDGPIKF_00038 |
34125 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
210A>G |
Ala70Ala |
M0097513 |
MBDGPIKF_00038 |
34157 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
242G>C |
Gly81Ala |
M0097514 |
MBDGPIKF_00038 |
34189 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
274T>C |
Leu92Leu |
M0097515 |
MBDGPIKF_00038 |
34212 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
297A>G |
Pro99Pro |
M0097516 |
MBDGPIKF_00038 |
34215 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
300T>G |
Val100Val |
M0097517 |
MBDGPIKF_00038 |
34227 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Leu104Leu |
M0097518 |
MBDGPIKF_00038 |
34233 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
318C>G |
Gly106Gly |
M0097519 |
MBDGPIKF_00038 |
34261 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
346A>C |
Ile116Leu |
M0097520 |
MBDGPIKF_00038 |
34302 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
387T>C |
Tyr129Tyr |
M0097521 |
MBDGPIKF_00038 |
34326 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
411A>G |
Leu137Leu |
M0097522 |
MBDGPIKF_00038 |
34380 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
465T>G |
Gly155Gly |
M0097523 |
MBDGPIKF_00038 |
34407 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
492C>G |
Arg164Arg |
M0097524 |
MBDGPIKF_00038 |
34425 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
510G>A |
Ala170Ala |
M0097525 |
MBDGPIKF_00038 |
34491 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
576T>G |
Val192Val |
M0097526 |
MBDGPIKF_00038 |
34518 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
603A>C |
Arg201Arg |
M0097527 |
MBDGPIKF_00038 |
34525 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
610A>C |
Ile204Leu |
M0097528 |
MBDGPIKF_00038 |
34526 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
611T>G |
Ile204Ser |
M0097529 |
MBDGPIKF_00038 |
34533 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
618A>C |
Leu206Phe |
M0097530 |
MBDGPIKF_00038 |
34540 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
625A>C |
Lys209Gln |
M0097531 |
MBDGPIKF_00038 |
34556 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
641C>A |
Ala214Glu |
M0097532 |
MBDGPIKF_00038 |
34644 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
729C>T |
Ile243Ile |
M0097533 |
MBDGPIKF_00038 |
34748 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
833T>C |
Val278Ala |
M0097534 |
MBDGPIKF_00038 |
34752 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
837G>A |
Ala279Ala |
M0097535 |
MBDGPIKF_00038 |
34762 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
847G>A |
Gly283Ser |
M0097536 |
MBDGPIKF_00038 |
34789 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
874C>T |
Leu292Leu |
M0097537 |
MBDGPIKF_00038 |
34797 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
882A>G |
Arg294Arg |
M0097538 |
MBDGPIKF_00038 |
34823 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
908T>C |
Ile303Thr |
M0097539 |
MBDGPIKF_00038 |
34887 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
972G>A |
Leu324Leu |
M0097540 |
MBDGPIKF_00038 |
34927 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1012T>C |
Leu338Leu |
M0097541 |
MBDGPIKF_00038 |
34929 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1014G>T |
Leu338Phe |
M0097542 |
MBDGPIKF_00038 |
34932 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1017A>G |
Ser339Ser |
M0097543 |
MBDGPIKF_00038 |
34993 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1078T>C |
Leu360Leu |
M0097544 |
MBDGPIKF_00038 |
35024 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1109A>G |
Gln370Arg |
M0097545 |
MBDGPIKF_00038 |
35105 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1190G>A |
Arg397His |
M0097546 |
MBDGPIKF_00038 |
35147 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1232T>C |
Phe411Ser |
M0097547 |
MBDGPIKF_00039 |
35277 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
91C>G |
His31Asp |
M0097548 |
MBDGPIKF_00039 |
35287 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
101T>G |
Leu34Arg |
M0097549 |
MBDGPIKF_00039 |
35317 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
131T>G |
Leu44Arg |
M0097550 |
MBDGPIKF_00039 |
35330 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
144A>G |
Glu48Glu |
M0097551 |
MBDGPIKF_00039 |
35337 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
151T>G |
Cys51Gly |
M0097552 |
MBDGPIKF_00039 |
35369 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
183A>G |
Leu61Leu |
M0097553 |
MBDGPIKF_00039 |
35370 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
184A>G |
Ile62Val |
M0097554 |
MBDGPIKF_00039 |
35371 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
185T>C |
Ile62Thr |
M0097555 |
MBDGPIKF_00039 |
35372 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
186A>G |
Ile62Met |
M0097556 |
MBDGPIKF_00039 |
35381 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
195C>T |
Leu65Leu |
M0097557 |
MBDGPIKF_00039 |
35412 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
226C>T |
Pro76Ser |
M0097558 |
MBDGPIKF_00039 |
35417 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
231G>A |
Ser77Ser |
M0097559 |
MBDGPIKF_00039 |
35507 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
321G>A |
Ala107Ala |
M0097560 |
MBDGPIKF_00039 |
35534 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
Ser116Ser |
M0097561 |
MBDGPIKF_00039 |
35550 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
364T>C |
Leu122Leu |
M0097562 |
MBDGPIKF_00039 |
35588 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
402C>T |
Ser134Ser |
M0097563 |
MBDGPIKF_00040 |
35616 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
18T>G |
Thr6Thr |
M0097564 |
MBDGPIKF_00040 |
35640 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
42G>A |
Arg14Arg |
M0097565 |
MBDGPIKF_00040 |
35651 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
53C>A |
Pro18Gln |
M0097566 |
MBDGPIKF_00040 |
35676 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
78C>T |
Thr26Thr |
M0097567 |
MBDGPIKF_00040 |
35694 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
96G>C |
Leu32Leu |
M0097568 |
MBDGPIKF_00040 |
35697 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
99A>G |
Ile33Met |
M0097569 |
MBDGPIKF_00040 |
35704 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
106A>G |
Met36Val |
M0097570 |
MBDGPIKF_00040 |
35728 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
130G>A |
Glu44Lys |
M0097571 |
MBDGPIKF_00040 |
35775 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
177A>C |
Gly59Gly |
M0097572 |
MBDGPIKF_00040 |
35838 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
240T>G |
Leu80Leu |
M0097573 |
MBDGPIKF_00040 |
35844 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
246C>T |
Pro82Pro |
M0097574 |
MBDGPIKF_00040 |
35845 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
247C>A |
Gln83Lys |
M0097575 |
MBDGPIKF_00040 |
35881 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
283T>A |
Cys95Ser |
M0097576 |
MBDGPIKF_00040 |
35882 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
284G>C |
Cys95Ser |
M0097577 |
MBDGPIKF_00041 |
36103 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
165T>C |
Ala55Ala |
M0097578 |
MBDGPIKF_00041 |
36120 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
182A>G |
Gln61Arg |
M0097579 |
MBDGPIKF_00041 |
36135 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
197T>C |
Ile66Thr |
M0097580 |
MBDGPIKF_00041 |
36139 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
201A>G |
Leu67Leu |
M0097581 |
MBDGPIKF_00041 |
36163 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
225C>T |
Val75Val |
M0097582 |
MBDGPIKF_00041 |
36184 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
246A>C |
Gly82Gly |
M0097583 |
MBDGPIKF_00041 |
36199 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
261A>T |
Gly87Gly |
M0097584 |
MBDGPIKF_00041 |
36231 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
293A>C |
Lys98Thr |
M0097585 |
MBDGPIKF_00041 |
36274 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
336T>C |
Leu112Leu |
M0097586 |
MBDGPIKF_00041 |
36276 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
338G>A |
Ser113Asn |
M0097587 |
MBDGPIKF_00041 |
36313 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
375T>C |
Asp125Asp |
M0097588 |
MBDGPIKF_00041 |
36320 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
382G>A |
Ala128Thr |
M0097589 |
MBDGPIKF_00041 |
36376 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
438A>G |
Arg146Arg |
M0097590 |
MBDGPIKF_00041 |
36379 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
441A>G |
Gln147Gln |
M0097591 |
MBDGPIKF_00041 |
36392 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
454G>A |
Val152Ile |
M0097592 |
MBDGPIKF_00041 |
36407 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
469A>T |
Ile157Phe |
M0097593 |
MBDGPIKF_00041 |
36409 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
471C>A |
Ile157Ile |
M0097594 |
MBDGPIKF_00041 |
36412 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
474A>G |
Leu158Leu |
M0097595 |
MBDGPIKF_00041 |
36429 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
491A>C |
Asp164Ala |
M0097596 |
MBDGPIKF_00041 |
36460 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
522C>G |
Ile174Met |
M0097597 |
MBDGPIKF_00041 |
36466 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
528G>A |
Glu176Glu |
M0097598 |
MBDGPIKF_00041 |
36467 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
529T>A |
Leu177Met |
M0097599 |
MBDGPIKF_00041 |
36484 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
546T>G |
Pro182Pro |
M0097600 |
MBDGPIKF_00041 |
36553 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
615C>G |
Thr205Thr |
M0097601 |
MBDGPIKF_00041 |
36673 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
735A>G |
Leu245Leu |
M0097602 |
MBDGPIKF_00041 |
36754 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
816A>G |
Thr272Thr |
M0097603 |
MBDGPIKF_00041 |
36755 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
817T>C |
Leu273Leu |
M0097604 |
MBDGPIKF_00041 |
36760 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
822T>C |
Arg274Arg |
M0097605 |
MBDGPIKF_00041 |
36826 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
888T>C |
Arg296Arg |
M0097606 |
MBDGPIKF_00041 |
36835 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
897A>C |
Gly299Gly |
M0097607 |
MBDGPIKF_00041 |
36867 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
929A>T |
Tyr310Phe |
M0097608 |
MBDGPIKF_00041 |
36895 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
957G>A |
Val319Val |
M0097609 |
MBDGPIKF_00042 |
36947 |
3 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-56G>A |
None |
M0097610 |
MBDGPIKF_00042 |
36949 |
3 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-54A>G |
None |
M0097611 |
MBDGPIKF_00042 |
36952 |
3 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-51A>G |
None |
M0097612 |
MBDGPIKF_00042 |
36956 |
3 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-47T>C |
None |
M0097613 |
MBDGPIKF_00042 |
36961 |
3 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-42T>C |
None |
M0097614 |
MBDGPIKF_00042 |
36964 |
3 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-39A>G |
None |
M0097615 |
MBDGPIKF_00042 |
36967 |
3 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-36G>T |
None |
M0097616 |
MBDGPIKF_00042 |
36972 |
3 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-31T>C |
None |
M0097617 |
MBDGPIKF_00042 |
36988 |
3 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-15A>T |
None |
M0097618 |
MBDGPIKF_00042 |
37002 |
3 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1A>C |
None |
M0097619 |
MBDGPIKF_00042 |
37023 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
21T>C |
Pro7Pro |
M0097620 |
MBDGPIKF_00042 |
37036 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
34A>G |
Thr12Ala |
M0097621 |
MBDGPIKF_00042 |
37063 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
61T>C |
Ser21Pro |
M0097622 |
MBDGPIKF_00042 |
37092 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
90T>C |
Phe30Phe |
M0097623 |
MBDGPIKF_00042 |
37125 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
123T>C |
Arg41Arg |
M0097624 |
MBDGPIKF_00042 |
37132 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
130T>C |
Leu44Leu |
M0097625 |
MBDGPIKF_00042 |
37206 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
204A>G |
Ala68Ala |
M0097626 |
MBDGPIKF_00042 |
37284 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
282C>T |
Asp94Asp |
M0097627 |
MBDGPIKF_00042 |
37288 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
286C>A |
His96Asn |
M0097628 |
MBDGPIKF_00042 |
37293 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
291A>G |
Ala97Ala |
M0097629 |
MBDGPIKF_00042 |
37299 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
297T>C |
Gly99Gly |
M0097630 |
MBDGPIKF_00017 |
20900 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
593A>T |
Glu198Val |
M0097631 |
MBDGPIKF_00017 |
20946 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
639A>G |
Gln213Gln |
M0097632 |
MBDGPIKF_00017 |
20962 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
655A>G |
Ile219Val |
M0097633 |
MBDGPIKF_00017 |
21012 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
705C>T |
Ile235Ile |
M0097634 |
MBDGPIKF_00017 |
21066 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
759T>C |
Gly253Gly |
M0097635 |
MBDGPIKF_00017 |
21111 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
804C>T |
Asn268Asn |
M0097636 |
MBDGPIKF_00017 |
21135 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
828A>G |
Gln276Gln |
M0097637 |
MBDGPIKF_00017 |
21159 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
852C>T |
Ser284Ser |
M0097638 |
MBDGPIKF_00017 |
21186 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
879T>C |
Val293Val |
M0097639 |
MBDGPIKF_00017 |
21246 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
939G>A |
Leu313Leu |
M0097640 |
MBDGPIKF_00017 |
21264 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
957A>G |
Gly319Gly |
M0097641 |
MBDGPIKF_00017 |
21308 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1001T>G |
Ile334Ser |
M0097642 |
MBDGPIKF_00017 |
21402 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1095T>C |
Ser365Ser |
M0097643 |
MBDGPIKF_00017 |
21462 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1155C>T |
Phe385Phe |
M0097644 |
MBDGPIKF_00017 |
21475 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1168G>A |
Val390Ile |
M0097645 |
MBDGPIKF_00014 |
21508 |
4 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3308C>T |
None |
M0097646 |
MBDGPIKF_00018 |
21546 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
36A>C |
Arg12Arg |
M0097647 |
MBDGPIKF_00018 |
21547 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
37A>G |
Asn13Asp |
M0097648 |
MBDGPIKF_00018 |
21589 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
79G>A |
Ala27Thr |
M0097649 |
MBDGPIKF_00018 |
21603 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
93A>G |
Arg31Arg |
M0097650 |
MBDGPIKF_00018 |
21606 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
96G>A |
Leu32Leu |
M0097651 |
MBDGPIKF_00018 |
21607 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
97C>T |
Leu33Leu |
M0097652 |
MBDGPIKF_00018 |
21621 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
111G>A |
Lys37Lys |
M0097653 |
MBDGPIKF_00018 |
21627 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
117T>G |
Pro39Pro |
M0097654 |
MBDGPIKF_00018 |
21639 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
129A>G |
Glu43Glu |
M0097655 |
MBDGPIKF_00018 |
21658 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
148T>C |
Leu50Leu |
M0097656 |
MBDGPIKF_00018 |
21664 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
154C>T |
Leu52Leu |
M0097657 |
MBDGPIKF_00018 |
21687 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
177G>A |
Glu59Glu |
M0097658 |
MBDGPIKF_00018 |
21705 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
195T>C |
Ile65Ile |
M0097659 |
MBDGPIKF_00018 |
21733 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
223G>A |
Glu75Lys |
M0097660 |
MBDGPIKF_00019 |
21759 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
20A>C |
Glu7Ala |
M0097661 |
MBDGPIKF_00019 |
21825 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
86A>G |
Lys29Arg |
M0097662 |
MBDGPIKF_00019 |
21833 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
94A>C |
Met32Leu |
M0097663 |
MBDGPIKF_00019 |
21860 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
121T>G |
Ser41Ala |
M0097664 |
MBDGPIKF_00019 |
21889 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
150G>A |
Lys50Lys |
M0097665 |
MBDGPIKF_00019 |
21919 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
180A>G |
Gln60Gln |
M0097666 |
MBDGPIKF_00019 |
21944 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
205A>G |
Thr69Ala |
M0097667 |
MBDGPIKF_00019 |
21964 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
225A>G |
Ala75Ala |
M0097668 |
MBDGPIKF_00019 |
21976 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
Ala79Ala |
M0097669 |
MBDGPIKF_00020 |
22085 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
43G>A |
Ala15Thr |
M0097670 |
MBDGPIKF_00020 |
22088 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
46T>C |
Ser16Pro |
M0097671 |
MBDGPIKF_00020 |
22093 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
Gly17Gly |
M0097672 |
MBDGPIKF_00020 |
22126 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
84C>T |
Gly28Gly |
M0097673 |
MBDGPIKF_00020 |
22221 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
179G>T |
Ser60Ile |
M0097674 |
MBDGPIKF_00020 |
22348 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
306A>G |
Pro102Pro |
M0097675 |
MBDGPIKF_00020 |
22381 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
339T>C |
Asp113Asp |
M0097676 |
MBDGPIKF_00020 |
22448 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
406T>C |
Leu136Leu |
M0097677 |
MBDGPIKF_00020 |
22522 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
480C>T |
Thr160Thr |
M0097678 |
MBDGPIKF_00021 |
22662 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
21G>T |
Arg7Arg |
M0097679 |
MBDGPIKF_00021 |
22665 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
24G>T |
Glu8Asp |
M0097680 |
MBDGPIKF_00021 |
22671 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
30G>C |
Glu10Asp |
M0097681 |
MBDGPIKF_00021 |
22674 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
33A>C |
Ile11Ile |
M0097682 |
MBDGPIKF_00021 |
22683 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
42G>A |
Arg14Arg |
M0097683 |
MBDGPIKF_00021 |
22743 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
102A>G |
Leu34Leu |
M0097684 |
MBDGPIKF_00021 |
22776 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
135A>G |
Ala45Ala |
M0097685 |
MBDGPIKF_00021 |
22778 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
137A>G |
Asn46Ser |
M0097686 |
MBDGPIKF_00021 |
22791 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
150C>T |
Tyr50Tyr |
M0097687 |
MBDGPIKF_00021 |
22878 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
237A>G |
Gln79Gln |
M0097688 |
MBDGPIKF_00021 |
22884 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
243T>C |
Asp81Asp |
M0097689 |
MBDGPIKF_00021 |
22887 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
246T>A |
Ala82Ala |
M0097690 |
MBDGPIKF_00021 |
22943 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
302C>A |
Ala101Glu |
M0097691 |
MBDGPIKF_00021 |
22953 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
312A>G |
Val104Val |
M0097692 |
MBDGPIKF_00021 |
22993 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
352T>C |
Phe118Leu |
M0097693 |
MBDGPIKF_00021 |
22995 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
354T>G |
Phe118Leu |
M0097694 |
MBDGPIKF_00021 |
23018 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
377A>G |
Gln126Arg |
M0097695 |
MBDGPIKF_00021 |
23075 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
434G>A |
Gly145Asp |
M0097696 |
MBDGPIKF_00022 |
23177 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
46T>G |
Ser16Ala |
M0097697 |
MBDGPIKF_00022 |
23192 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
61G>C |
Val21Leu |
M0097698 |
MBDGPIKF_00022 |
23204 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
73A>G |
Ile25Val |
M0097699 |
MBDGPIKF_00022 |
23212 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
81A>C |
Thr27Thr |
M0097700 |
MBDGPIKF_00022 |
23239 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Gly36Gly |
M0097701 |
MBDGPIKF_00022 |
23342 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
211G>A |
Val71Met |
M0097702 |
MBDGPIKF_00022 |
23359 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
228A>C |
Glu76Asp |
M0097703 |
MBDGPIKF_00022 |
23384 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
253A>G |
Asn85Asp |
M0097704 |
MBDGPIKF_00022 |
23386 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
255C>T |
Asn85Asn |
M0097705 |
MBDGPIKF_00022 |
23405 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
274G>A |
Val92Met |
M0097706 |
MBDGPIKF_00028 |
27056 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
81G>A |
Gly27Gly |
M0097707 |
MBDGPIKF_00028 |
27117 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
142A>G |
Thr48Ala |
M0097708 |
MBDGPIKF_00028 |
27124 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
149A>G |
Lys50Arg |
M0097709 |
MBDGPIKF_00028 |
27153 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
178A>C |
Met60Leu |
M0097710 |
MBDGPIKF_00028 |
27182 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
207T>C |
Pro69Pro |
M0097711 |
MBDGPIKF_00028 |
27207 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
232A>G |
Met78Val |
M0097712 |
MBDGPIKF_00028 |
27213 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
238T>C |
Leu80Leu |
M0097713 |
MBDGPIKF_00028 |
27256 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
281A>C |
Glu94Ala |
M0097714 |
MBDGPIKF_00028 |
27270 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
295A>G |
Ser99Gly |
M0097715 |
MBDGPIKF_00028 |
27299 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
324A>G |
Gly108Gly |
M0097716 |
MBDGPIKF_00028 |
27306 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
331T>C |
Leu111Leu |
M0097717 |
MBDGPIKF_00028 |
27317 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
342T>C |
Ala114Ala |
M0097718 |
MBDGPIKF_00028 |
27348 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
373T>C |
Cys125Arg |
M0097719 |
MBDGPIKF_00028 |
27385 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
410C>G |
Ala137Gly |
M0097720 |
MBDGPIKF_00028 |
27412 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
437T>G |
Leu146Arg |
M0097721 |
MBDGPIKF_00028 |
27424 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
449T>C |
Val150Ala |
M0097722 |
MBDGPIKF_00028 |
27491 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
516T>C |
Val172Val |
M0097723 |
MBDGPIKF_00028 |
27531 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
556T>C |
Phe186Leu |
M0097724 |
MBDGPIKF_00028 |
27657 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
682C>T |
Leu228Leu |
M0097725 |
MBDGPIKF_00028 |
27684 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
709C>G |
Gln237Glu |
M0097726 |
MBDGPIKF_00028 |
27689 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
714T>G |
Pro238Pro |
M0097727 |
MBDGPIKF_00028 |
27691 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
716T>C |
Val239Ala |
M0097728 |
MBDGPIKF_00028 |
27705 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
730T>C |
Ser244Pro |
M0097729 |
MBDGPIKF_00029 |
27727 |
5 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-52A>G |
None |
M0097730 |
MBDGPIKF_00029 |
27749 |
5 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-30C>G |
None |
M0097731 |
MBDGPIKF_00029 |
27775 |
5 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4G>A |
None |
M0097732 |
MBDGPIKF_00029 |
27815 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
37T>C |
Leu13Leu |
M0097733 |
MBDGPIKF_00029 |
27827 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
49T>G |
Ser17Ala |
M0097734 |
MBDGPIKF_00029 |
27832 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
54A>G |
Gly18Gly |
M0097735 |
MBDGPIKF_00029 |
27846 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
68G>A |
Gly23Asp |
M0097736 |
MBDGPIKF_00029 |
27857 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
79A>G |
Ser27Gly |
M0097737 |
MBDGPIKF_00029 |
27860 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
82G>C |
Glu28Gln |
M0097738 |
MBDGPIKF_00029 |
27868 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
90C>T |
Ile30Ile |
M0097739 |
MBDGPIKF_00029 |
27877 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
99G>C |
Pro33Pro |
M0097740 |
MBDGPIKF_00030 |
28021 |
5 |
Skin |
0.33 |
protein_coding |
start_lost |
HIGH |
1A>G |
Met1? |
M0097741 |
MBDGPIKF_00030 |
28025 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
5C>T |
Ala2Val |
M0097742 |
MBDGPIKF_00030 |
28090 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
70T>C |
Leu24Leu |
M0097743 |
MBDGPIKF_00030 |
28092 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
72G>A |
Leu24Leu |
M0097744 |
MBDGPIKF_00030 |
28166 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
146T>C |
Val49Ala |
M0097745 |
MBDGPIKF_00030 |
28223 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
203A>C |
Asn68Thr |
M0097746 |
MBDGPIKF_00031 |
28254 |
5 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1A>G |
None |
M0097747 |
MBDGPIKF_00031 |
28287 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
33C>T |
Asp11Asp |
M0097748 |
MBDGPIKF_00031 |
28291 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
37G>T |
Ala13Ser |
M0097749 |
MBDGPIKF_00031 |
28294 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
40A>T |
Thr14Ser |
M0097750 |
MBDGPIKF_00031 |
28305 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
51A>G |
Ala17Ala |
M0097751 |
MBDGPIKF_00031 |
28351 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
97A>T |
Thr33Ser |
M0097752 |
MBDGPIKF_00031 |
28398 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
144A>G |
Val48Val |
M0097753 |
MBDGPIKF_00031 |
28408 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
154G>A |
Ala52Thr |
M0097754 |
MBDGPIKF_00031 |
28415 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
161A>C |
Tyr54Ser |
M0097755 |
MBDGPIKF_00031 |
28452 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
198T>G |
Ala66Ala |
M0097756 |
MBDGPIKF_00031 |
28468 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
214T>C |
Leu72Leu |
M0097757 |
MBDGPIKF_00031 |
28484 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
230T>C |
Val77Ala |
M0097758 |
MBDGPIKF_00031 |
28497 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
243T>C |
Ser81Ser |
M0097759 |
MBDGPIKF_00031 |
28506 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
252C>G |
Val84Val |
M0097760 |
MBDGPIKF_00031 |
28509 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
255C>T |
Asn85Asn |
M0097761 |
MBDGPIKF_00031 |
28517 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
263T>C |
Val88Ala |
M0097762 |
MBDGPIKF_00032 |
28532 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
6A>G |
Lys2Lys |
M0097763 |
MBDGPIKF_00032 |
28534 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
8T>C |
Phe3Ser |
M0097764 |
MBDGPIKF_00032 |
28904 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
378C>T |
Asp126Asp |
M0097765 |
MBDGPIKF_00032 |
28941 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
415G>T |
Ala139Ser |
M0097766 |
MBDGPIKF_00032 |
28943 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
417C>G |
Ala139Ala |
M0097767 |
MBDGPIKF_00032 |
28950 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
424G>C |
Ala142Pro |
M0097768 |
MBDGPIKF_00032 |
29027 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
501A>G |
Leu167Leu |
M0097769 |
MBDGPIKF_00032 |
29045 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
519T>A |
Pro173Pro |
M0097770 |
MBDGPIKF_00032 |
29046 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
520A>G |
Ser174Gly |
M0097771 |
MBDGPIKF_00032 |
29165 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
639T>C |
Arg213Arg |
M0097772 |
MBDGPIKF_00032 |
29171 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
645T>A |
Ala215Ala |
M0097773 |
MBDGPIKF_00032 |
29175 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
649C>A |
Leu217Ile |
M0097774 |
MBDGPIKF_00032 |
29177 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
651C>A |
Leu217Leu |
M0097775 |
MBDGPIKF_00032 |
29183 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
657A>G |
Pro219Pro |
M0097776 |
MBDGPIKF_00032 |
29184 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
658C>T |
Leu220Leu |
M0097777 |
MBDGPIKF_00032 |
29201 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
675G>A |
Leu225Leu |
M0097778 |
MBDGPIKF_00032 |
29213 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
687G>T |
Ser229Ser |
M0097779 |
MBDGPIKF_00033 |
29249 |
6 |
Skin |
0.40 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-30A>G |
None |
M0097780 |
MBDGPIKF_00033 |
29334 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
56T>G |
Leu19Arg |
M0097781 |
MBDGPIKF_00033 |
29347 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
69T>C |
Ala23Ala |
M0097782 |
MBDGPIKF_00033 |
29371 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
93A>G |
Gly31Gly |
M0097783 |
MBDGPIKF_00033 |
29374 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
96C>T |
Ala32Ala |
M0097784 |
MBDGPIKF_00033 |
29437 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
159T>A |
Leu53Leu |
M0097785 |
MBDGPIKF_00033 |
29523 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
245T>C |
Val82Ala |
M0097786 |
MBDGPIKF_00033 |
29568 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
290A>C |
Glu97Ala |
M0097787 |
MBDGPIKF_00033 |
29572 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
294A>T |
Leu98Leu |
M0097788 |
MBDGPIKF_00033 |
29633 |
6 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
355A>C |
Ser119Arg |
M0097789 |
MBDGPIKF_00033 |
29635 |
6 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
357T>C |
Ser119Ser |
M0097790 |
MBDGPIKF_00033 |
29783 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
505C>G |
Pro169Ala |
M0097791 |
MBDGPIKF_00033 |
29820 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
542T>C |
Val181Ala |
M0097792 |
MBDGPIKF_00034 |
29859 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
45T>C |
Gly15Gly |
M0097793 |
MBDGPIKF_00034 |
29910 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
96C>G |
Ala32Ala |
M0097794 |
MBDGPIKF_00034 |
29914 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
100G>A |
Val34Ile |
M0097795 |
MBDGPIKF_00034 |
29928 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
114C>T |
Asp38Asp |
M0097796 |
MBDGPIKF_00034 |
29929 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
115T>C |
Phe39Leu |
M0097797 |
MBDGPIKF_00034 |
29964 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
150G>C |
Arg50Arg |
M0097798 |
MBDGPIKF_00034 |
29984 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
170G>A |
Arg57Gln |
M0097799 |
MBDGPIKF_00034 |
30007 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
193T>G |
Cys65Gly |
M0097800 |
MBDGPIKF_00034 |
30008 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
194G>A |
Cys65Tyr |
M0097801 |
MBDGPIKF_00034 |
30009 |
5 |
Skin |
0.33 |
protein_coding |
stop_gained |
HIGH |
195C>A |
Cys65* |
M0097802 |
MBDGPIKF_00034 |
30010 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
196C>A |
Leu66Met |
M0097803 |
MBDGPIKF_00034 |
30024 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
210A>G |
Arg70Arg |
M0097804 |
MBDGPIKF_00034 |
30041 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
227T>C |
Val76Ala |
M0097805 |
MBDGPIKF_00034 |
30044 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
230C>G |
Ser77Trp |
M0097806 |
MBDGPIKF_00034 |
30057 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
243G>A |
Thr81Thr |
M0097807 |
MBDGPIKF_00034 |
30093 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
279T>C |
His93His |
M0097808 |
MBDGPIKF_00034 |
30099 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Ile95Ile |
M0097809 |
MBDGPIKF_00034 |
30111 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
297G>T |
Gly99Gly |
M0097810 |
MBDGPIKF_00034 |
30159 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
345C>T |
Ile115Ile |
M0097811 |
MBDGPIKF_00034 |
30168 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
354C>T |
Cys118Cys |
M0097812 |
MBDGPIKF_00034 |
30171 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
357A>T |
Ile119Ile |
M0097813 |
MBDGPIKF_00034 |
30188 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
374T>C |
Val125Ala |
M0097814 |
MBDGPIKF_00034 |
30369 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
555T>C |
Ser185Ser |
M0097815 |
MBDGPIKF_00034 |
30379 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
565T>G |
Ser189Ala |
M0097816 |
MBDGPIKF_00034 |
30411 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
597T>C |
Leu199Leu |
M0097817 |
MBDGPIKF_00034 |
30432 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
618A>G |
Leu206Leu |
M0097818 |
MBDGPIKF_00034 |
30435 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
621A>G |
Leu207Leu |
M0097819 |
MBDGPIKF_00034 |
30447 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
633T>C |
Arg211Arg |
M0097820 |
MBDGPIKF_00034 |
30450 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
636A>G |
Pro212Pro |
M0097821 |
MBDGPIKF_00034 |
30457 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
643T>C |
Ser215Pro |
M0097822 |
MBDGPIKF_00034 |
30459 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
645A>G |
Ser215Ser |
M0097823 |
MBDGPIKF_00034 |
30468 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
654A>G |
Gly218Gly |
M0097824 |
MBDGPIKF_00035 |
30503 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
28A>C |
Lys10Gln |
M0097825 |
MBDGPIKF_00035 |
30566 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
91A>G |
Thr31Ala |
M0097826 |
MBDGPIKF_00035 |
30610 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
135T>C |
Leu45Leu |
M0097827 |
MBDGPIKF_00035 |
30615 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
140C>A |
Ala47Glu |
M0097828 |
MBDGPIKF_00035 |
30653 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
178T>C |
Phe60Leu |
M0097829 |
MBDGPIKF_00035 |
30664 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
189G>A |
Leu63Leu |
M0097830 |
MBDGPIKF_00035 |
30670 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
195A>G |
Gln65Gln |
M0097831 |
MBDGPIKF_00035 |
30673 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
198A>C |
Ala66Ala |
M0097832 |
MBDGPIKF_00035 |
30724 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
249A>G |
Val83Val |
M0097833 |
MBDGPIKF_00035 |
30736 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
261A>G |
Gln87Gln |
M0097834 |
MBDGPIKF_00035 |
30747 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
272A>G |
Asp91Gly |
M0097835 |
MBDGPIKF_00035 |
30751 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
276T>G |
Gly92Gly |
M0097836 |
MBDGPIKF_00035 |
30754 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
279T>C |
Ile93Ile |
M0097837 |
MBDGPIKF_00035 |
30758 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
283A>G |
Thr95Ala |
M0097838 |
MBDGPIKF_00035 |
30787 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
312A>G |
Ser104Ser |
M0097839 |
MBDGPIKF_00035 |
30788 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
313T>C |
Ser105Pro |
M0097840 |
MBDGPIKF_00035 |
30802 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
327G>A |
Gln109Gln |
M0097841 |
MBDGPIKF_00035 |
30817 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
342A>G |
Ala114Ala |
M0097842 |
MBDGPIKF_00035 |
30819 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
344T>C |
Val115Ala |
M0097843 |
MBDGPIKF_00035 |
30821 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
346T>C |
Leu116Leu |
M0097844 |
MBDGPIKF_00035 |
30865 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
390A>G |
Leu130Leu |
M0097845 |
MBDGPIKF_00035 |
30877 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
402G>T |
Leu134Leu |
M0097846 |
MBDGPIKF_00035 |
30940 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
465A>G |
Gln155Gln |
M0097847 |
MBDGPIKF_00035 |
30974 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
499C>T |
Leu167Leu |
M0097848 |
MBDGPIKF_00035 |
31004 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
529A>G |
Thr177Ala |
M0097849 |
MBDGPIKF_00035 |
31037 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
562A>G |
Asn188Asp |
M0097850 |
MBDGPIKF_00035 |
31065 |
4 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
590A>G |
Lys197Arg |
M0097851 |
MBDGPIKF_00035 |
31069 |
4 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
594A>G |
Val198Val |
M0097852 |
MBDGPIKF_00032 |
28574 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
48A>G |
Leu16Leu |
M0097853 |
MBDGPIKF_00032 |
28604 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
78A>G |
Ala26Ala |
M0097854 |
MBDGPIKF_00032 |
28616 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
90T>C |
Asp30Asp |
M0097855 |
MBDGPIKF_00032 |
28650 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
124A>C |
Asn42His |
M0097856 |
MBDGPIKF_00032 |
28691 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
165A>T |
Val55Val |
M0097857 |
MBDGPIKF_00032 |
28697 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
171A>G |
Leu57Leu |
M0097858 |
MBDGPIKF_00032 |
28721 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
195T>C |
Ile65Ile |
M0097859 |
MBDGPIKF_00032 |
28730 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
204A>T |
Val68Val |
M0097860 |
MBDGPIKF_00032 |
28737 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
211T>C |
Leu71Leu |
M0097861 |
MBDGPIKF_00032 |
28760 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
234A>G |
Arg78Arg |
M0097862 |
MBDGPIKF_00032 |
28762 |
5 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
236A>G |
His79Arg |
M0097863 |
MBDGPIKF_00032 |
28775 |
5 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
249T>G |
Ser83Ser |
M0097864 |
MBDGPIKF_00035 |
31108 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
633G>T |
Val211Val |
M0097865 |
MBDGPIKF_00035 |
31123 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
648A>G |
Gln216Gln |
M0097866 |
MBDGPIKF_00035 |
31150 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
675T>C |
Arg225Arg |
M0097867 |
MBDGPIKF_00035 |
31153 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
678T>G |
Leu226Leu |
M0097868 |
MBDGPIKF_00035 |
31166 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
691G>C |
Val231Leu |
M0097869 |
MBDGPIKF_00035 |
31168 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
693A>G |
Val231Val |
M0097870 |
MBDGPIKF_00035 |
31174 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
699A>G |
Leu233Leu |
M0097871 |
MBDGPIKF_00035 |
31200 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
725T>C |
Ile242Thr |
M0097872 |
MBDGPIKF_00035 |
31243 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
768T>G |
Phe256Leu |
M0097873 |
MBDGPIKF_00035 |
31288 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
813T>C |
Leu271Leu |
M0097874 |
MBDGPIKF_00035 |
31379 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
904G>C |
Ala302Pro |
M0097875 |
MBDGPIKF_00035 |
31424 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
949T>C |
Leu317Leu |
M0097876 |
MBDGPIKF_00035 |
31430 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
955G>A |
Gly319Ser |
M0097877 |
MBDGPIKF_00036 |
31467 |
3 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-49C>T |
None |
M0097878 |
MBDGPIKF_00036 |
31486 |
3 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-30A>T |
None |
M0097879 |
MBDGPIKF_00036 |
31515 |
3 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1A>T |
None |
M0097880 |
MBDGPIKF_00036 |
31551 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
36A>G |
Leu12Leu |
M0097881 |
MBDGPIKF_00036 |
31614 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
99T>C |
Gly33Gly |
M0097882 |
MBDGPIKF_00036 |
31618 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
103A>C |
Arg35Arg |
M0097883 |
MBDGPIKF_00036 |
31649 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
134A>G |
Asp45Gly |
M0097884 |
MBDGPIKF_00036 |
31653 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
138A>G |
Arg46Arg |
M0097885 |
MBDGPIKF_00036 |
31662 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
147T>G |
Ile49Met |
M0097886 |
MBDGPIKF_00036 |
31680 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
165C>G |
Leu55Leu |
M0097887 |
MBDGPIKF_00036 |
31752 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
237G>A |
Pro79Pro |
M0097888 |
MBDGPIKF_00036 |
31775 |
3 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
260A>G |
Asp87Gly |
M0097889 |
MBDGPIKF_00036 |
31803 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
288T>A |
Ala96Ala |
M0097890 |
MBDGPIKF_00037 |
31910 |
3 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
42A>G |
Leu14Leu |
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 |
MBDGPIKF_00029 |
VFG000507 |
TTSS (SPI-2 encode) |
71.8 |
4.9e-24 |
1 |
71 |
1.0 |
1 |
Effector delivery system |
type III secretion system needle filament protein SsaG |
experiment |
MBDGPIKF_00042 |
VFG000519 |
TTSS (SPI-2 encode) |
79.9 |
3.5e-89 |
1 |
214 |
0.9953 |
0.9953 |
Effector delivery system |
type III secretion system minor export apparatus protein SsaR |
experiment |
MBDGPIKF_00029 |
VFG000507 |
TTSS (SPI-2 encode) |
71.8 |
3.6e-23 |
1 |
71 |
1.0 |
1 |
Effector delivery system |
type III secretion system needle filament protein SsaG |
prediction |
MBDGPIKF_00037 |
VFG003915 |
TTSS (SPI-2 encode) |
70.2 |
3.6e-253 |
6 |
686 |
0.9927 |
1 |
Effector delivery system |
type III secretion system major export apparatus protein ssaV |
prediction |
MBDGPIKF_00042 |
VFG000519 |
TTSS (SPI-2 encode) |
79.9 |
2.6e-88 |
1 |
214 |
0.9953 |
0.9953 |
Effector delivery system |
type III secretion system minor export apparatus protein SsaR |
prediction |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
MBDGPIKF_00029 |
PHI:10136 |
STM14_RS07885 (ssaG) |
71.8 |
1.3e-23 |
1 |
71 |
1.0000 |
1.0000 |
eudicots |
infection |
type III secretion system needle protein |
reduced virulence |
MBDGPIKF_00042 |
PHI:10149 |
STM14_RS07950 (ssaR) |
79.9 |
9.1e-89 |
1 |
214 |
0.9953 |
0.9953 |
eudicots |
infection |
type III secretion system export apparatus protein |
reduced virulence |
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 |