Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C3189 |
Reference Plasmid |
MET0311_bin.2__k81_15609 |
Reference Plasmid Size |
29801 |
Reference Plasmid GC Content |
0.54 |
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 |
M0078869 |
PBJHOIEG_00008 |
14073 |
19 |
Skin |
0.59 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3421A>G |
None |
M0078870 |
PBJHOIEG_00012 |
15040 |
20 |
Skin |
0.63 |
protein_coding |
synonymous_variant |
LOW |
222C>T |
Ile74Ile |
M0078871 |
PBJHOIEG_00012 |
15121 |
19 |
Skin |
0.59 |
protein_coding |
synonymous_variant |
LOW |
141C>T |
Cys47Cys |
M0078872 |
PBJHOIEG_00012 |
15166 |
19 |
Skin |
0.59 |
protein_coding |
synonymous_variant |
LOW |
96A>G |
Glu32Glu |
M0078873 |
PBJHOIEG_00012 |
15169 |
17 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
93A>C |
Ala31Ala |
M0078874 |
PBJHOIEG_00012 |
15181 |
17 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
81G>C |
Gly27Gly |
M0078875 |
PBJHOIEG_00012 |
15196 |
19 |
Skin |
0.59 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Leu22Leu |
M0078876 |
PBJHOIEG_00012 |
15198 |
18 |
Skin |
0.56 |
protein_coding |
synonymous_variant |
LOW |
64C>T |
Leu22Leu |
M0078877 |
PBJHOIEG_00012 |
15232 |
20 |
Skin |
0.63 |
protein_coding |
synonymous_variant |
LOW |
30A>T |
Leu10Leu |
M0078878 |
PBJHOIEG_00013 |
15411 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1683C>T |
Asp561Asp |
M0078879 |
PBJHOIEG_00013 |
15438 |
10 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1656C>T |
Thr552Thr |
M0078880 |
PBJHOIEG_00013 |
15538 |
19 |
Skin |
0.59 |
protein_coding |
missense_variant |
MODERATE |
1556A>C |
Asp519Ala |
M0078881 |
PBJHOIEG_00013 |
15562 |
13 |
Skin |
0.41 |
protein_coding |
missense_variant |
MODERATE |
1532T>C |
Val511Ala |
M0078882 |
PBJHOIEG_00013 |
15591 |
19 |
Skin |
0.59 |
protein_coding |
missense_variant |
MODERATE |
1503C>G |
Asp501Glu |
M0078883 |
PBJHOIEG_00013 |
15633 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1461C>T |
Asp487Asp |
M0078884 |
PBJHOIEG_00013 |
15660 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1434G>A |
Gly478Gly |
M0078885 |
PBJHOIEG_00013 |
15667 |
8 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
1427A>T |
Glu476Val |
M0078886 |
PBJHOIEG_00013 |
15780 |
9 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
1314C>G |
Pro438Pro |
M0078887 |
PBJHOIEG_00013 |
15813 |
18 |
Skin |
0.56 |
protein_coding |
synonymous_variant |
LOW |
1281C>G |
Ala427Ala |
M0078888 |
PBJHOIEG_00013 |
15817 |
18 |
Skin |
0.56 |
protein_coding |
missense_variant |
MODERATE |
1277T>C |
Met426Thr |
M0078889 |
PBJHOIEG_00013 |
15825 |
18 |
Skin |
0.56 |
protein_coding |
synonymous_variant |
LOW |
1269T>C |
Phe423Phe |
M0078890 |
PBJHOIEG_00013 |
15837 |
18 |
Skin |
0.56 |
protein_coding |
synonymous_variant |
LOW |
1257T>G |
Gly419Gly |
M0078891 |
PBJHOIEG_00013 |
15870 |
18 |
Skin |
0.56 |
protein_coding |
synonymous_variant |
LOW |
1224C>T |
Ala408Ala |
M0078892 |
PBJHOIEG_00013 |
15894 |
18 |
Skin |
0.56 |
protein_coding |
synonymous_variant |
LOW |
1200G>A |
Gln400Gln |
M0078893 |
PBJHOIEG_00013 |
15918 |
18 |
Skin |
0.56 |
protein_coding |
synonymous_variant |
LOW |
1176T>C |
Gly392Gly |
M0078894 |
PBJHOIEG_00013 |
15936 |
9 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
1158A>G |
Arg386Arg |
M0078895 |
PBJHOIEG_00013 |
15940 |
9 |
Skin |
0.28 |
protein_coding |
missense_variant |
MODERATE |
1154G>T |
Arg385Met |
M0078896 |
PBJHOIEG_00013 |
15950 |
9 |
Skin |
0.28 |
protein_coding |
missense_variant |
MODERATE |
1144A>G |
Asn382Asp |
M0078897 |
PBJHOIEG_00013 |
15968 |
18 |
Skin |
0.56 |
protein_coding |
missense_variant |
MODERATE |
1126T>C |
Tyr376His |
M0078898 |
PBJHOIEG_00013 |
16074 |
17 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
1020T>G |
Val340Val |
M0078899 |
PBJHOIEG_00013 |
16101 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
993C>G |
Val331Val |
M0078900 |
PBJHOIEG_00013 |
16152 |
15 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
942C>T |
Gly314Gly |
M0078901 |
PBJHOIEG_00013 |
16155 |
15 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
939C>T |
His313His |
M0078902 |
PBJHOIEG_00013 |
16170 |
15 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
924A>T |
Gly308Gly |
M0078903 |
PBJHOIEG_00013 |
16242 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
852T>C |
Arg284Arg |
M0078904 |
PBJHOIEG_00013 |
16263 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
831T>C |
Asn277Asn |
M0078905 |
PBJHOIEG_00013 |
16327 |
5 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
767T>C |
Val256Ala |
M0078906 |
PBJHOIEG_00013 |
17042 |
5 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
52G>A |
Val18Ile |
M0078907 |
PBJHOIEG_00014 |
17869 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
259C>T |
Leu87Leu |
M0078908 |
PBJHOIEG_00014 |
17984 |
14 |
Skin |
0.44 |
protein_coding |
synonymous_variant |
LOW |
144T>C |
Val48Val |
M0078909 |
PBJHOIEG_00015 |
18462 |
14 |
Skin |
0.44 |
protein_coding |
synonymous_variant |
LOW |
174T>C |
Arg58Arg |
M0078910 |
PBJHOIEG_00015 |
18474 |
14 |
Skin |
0.44 |
protein_coding |
synonymous_variant |
LOW |
162T>C |
Asp54Asp |
M0078911 |
PBJHOIEG_00015 |
18498 |
14 |
Skin |
0.44 |
protein_coding |
synonymous_variant |
LOW |
138T>C |
Ser46Ser |
M0078912 |
PBJHOIEG_00015 |
18537 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
99C>G |
Leu33Leu |
M0078913 |
PBJHOIEG_00015 |
18552 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
84T>C |
Pro28Pro |
M0078914 |
PBJHOIEG_00016 |
18696 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1882G>A |
Ala628Thr |
M0078915 |
PBJHOIEG_00016 |
19045 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1533T>C |
Val511Val |
M0078916 |
PBJHOIEG_00016 |
19197 |
12 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
1381T>C |
Phe461Leu |
M0078917 |
PBJHOIEG_00016 |
19814 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
764A>G |
Glu255Gly |
M0078918 |
PBJHOIEG_00016 |
19891 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
687T>C |
Gly229Gly |
M0078919 |
PBJHOIEG_00016 |
19963 |
9 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
615T>C |
Val205Val |
M0078920 |
PBJHOIEG_00016 |
19978 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
600G>A |
Glu200Glu |
M0078921 |
PBJHOIEG_00017 |
20707 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
24G>A |
Ala8Ala |
M0078922 |
PBJHOIEG_00017 |
20715 |
5 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
32C>G |
Ala11Gly |
M0078923 |
PBJHOIEG_00013 |
20582 |
6 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3489T>C |
None |
M0078924 |
PBJHOIEG_00017 |
20773 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
90A>T |
Glu30Asp |
M0078925 |
PBJHOIEG_00017 |
20917 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
234T>G |
Leu78Leu |
M0078926 |
PBJHOIEG_00017 |
21085 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
402T>C |
Ile134Ile |
M0078927 |
PBJHOIEG_00017 |
21289 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
606C>G |
Arg202Arg |
M0078928 |
PBJHOIEG_00017 |
21298 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
615A>G |
Lys205Lys |
M0078929 |
PBJHOIEG_00017 |
21409 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
726A>G |
Val242Val |
M0078930 |
PBJHOIEG_00017 |
21439 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
756T>C |
Thr252Thr |
M0078931 |
PBJHOIEG_00017 |
21445 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
762A>G |
Ala254Ala |
M0078932 |
PBJHOIEG_00017 |
21448 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
765A>G |
Arg255Arg |
M0078933 |
PBJHOIEG_00017 |
21451 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
768G>A |
Pro256Pro |
M0078934 |
PBJHOIEG_00017 |
21454 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
771G>A |
Thr257Thr |
M0078935 |
PBJHOIEG_00017 |
21457 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
774C>G |
Leu258Leu |
M0078936 |
PBJHOIEG_00017 |
21469 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
786G>A |
Glu262Glu |
M0078937 |
PBJHOIEG_00017 |
21472 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
789T>C |
Asn263Asn |
M0078938 |
PBJHOIEG_00017 |
21478 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
795A>G |
Gln265Gln |
M0078939 |
PBJHOIEG_00017 |
21498 |
7 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
815T>C |
Val272Ala |
M0078940 |
PBJHOIEG_00017 |
21505 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
822T>C |
Ile274Ile |
M0078941 |
PBJHOIEG_00017 |
21532 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
849A>G |
Gln283Gln |
M0078942 |
PBJHOIEG_00017 |
21563 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
880T>C |
Leu294Leu |
M0078943 |
PBJHOIEG_00017 |
21601 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
918A>G |
Ala306Ala |
M0078944 |
PBJHOIEG_00017 |
21612 |
8 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
929G>A |
Arg310Gln |
M0078945 |
PBJHOIEG_00017 |
21718 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1035G>A |
Arg345Arg |
M0078946 |
PBJHOIEG_00017 |
21865 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1182T>C |
His394His |
M0078947 |
PBJHOIEG_00017 |
21934 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1251A>G |
Pro417Pro |
M0078948 |
PBJHOIEG_00018 |
22201 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
330T>C |
Val110Val |
M0078949 |
PBJHOIEG_00018 |
22297 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
234G>A |
Ala78Ala |
M0078950 |
PBJHOIEG_00018 |
22313 |
5 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
218T>C |
Val73Ala |
M0078951 |
PBJHOIEG_00018 |
22321 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
210T>C |
Thr70Thr |
M0078952 |
PBJHOIEG_00018 |
22330 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
201A>C |
Ala67Ala |
M0078953 |
PBJHOIEG_00018 |
22420 |
5 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
111A>C |
Lys37Asn |
M0078954 |
PBJHOIEG_00018 |
22504 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
27A>G |
Gln9Gln |
M0078955 |
PBJHOIEG_00014 |
22569 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4442G>A |
None |
M0078956 |
PBJHOIEG_00019 |
22602 |
5 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
195T>A |
His65Gln |
M0078957 |
PBJHOIEG_00019 |
22707 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
90G>A |
Lys30Lys |
M0078958 |
PBJHOIEG_00019 |
22761 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
36A>G |
Glu12Glu |
M0078959 |
PBJHOIEG_00020 |
23358 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
98A>T |
Asn33Ile |
M0078960 |
PBJHOIEG_00020 |
23361 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
101T>C |
Val34Ala |
M0078961 |
PBJHOIEG_00020 |
24109 |
11 |
Skin |
0.34 |
protein_coding |
missense_variant |
MODERATE |
849T>G |
Asp283Glu |
M0078962 |
PBJHOIEG_00020 |
24184 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
924G>T |
Arg308Arg |
M0078963 |
PBJHOIEG_00020 |
24199 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
939C>T |
Thr313Thr |
M0078964 |
PBJHOIEG_00020 |
24250 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
990T>C |
Gly330Gly |
M0078965 |
PBJHOIEG_00020 |
24342 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1082T>C |
Val361Ala |
M0078966 |
PBJHOIEG_00020 |
24343 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1083G>C |
Val361Val |
M0078967 |
PBJHOIEG_00020 |
24372 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1112G>C |
Arg371Thr |
M0078968 |
PBJHOIEG_00020 |
24424 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1164A>G |
Ala388Ala |
M0078969 |
PBJHOIEG_00020 |
24434 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1174G>A |
Ala392Thr |
M0078970 |
PBJHOIEG_00020 |
24550 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1290T>C |
His430His |
M0078971 |
PBJHOIEG_00020 |
24556 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1296G>A |
Ala432Ala |
M0078972 |
PBJHOIEG_00020 |
24590 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1330C>T |
Leu444Leu |
M0078973 |
PBJHOIEG_00020 |
24709 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1449A>C |
Gly483Gly |
M0078974 |
PBJHOIEG_00020 |
24726 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1466A>G |
His489Arg |
M0078975 |
PBJHOIEG_00020 |
24888 |
5 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1628A>G |
Asn543Ser |
M0078976 |
PBJHOIEG_00020 |
24905 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1645C>T |
Leu549Phe |
M0078977 |
PBJHOIEG_00020 |
24928 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1668G>A |
Lys556Lys |
M0078978 |
PBJHOIEG_00020 |
24946 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1686T>G |
Ala562Ala |
M0078979 |
PBJHOIEG_00020 |
24964 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1704C>T |
Arg568Arg |
M0078980 |
PBJHOIEG_00020 |
25007 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1747C>A |
Leu583Ile |
M0078981 |
PBJHOIEG_00016 |
25278 |
5 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4701C>T |
None |
M0078982 |
PBJHOIEG_00021 |
25330 |
6 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
23T>A |
Val8Glu |
M0078983 |
PBJHOIEG_00021 |
25457 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
150A>G |
Val50Val |
M0078984 |
PBJHOIEG_00021 |
25529 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
222C>G |
Gly74Gly |
M0078985 |
PBJHOIEG_00021 |
25601 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
294G>C |
Val98Val |
M0078986 |
PBJHOIEG_00021 |
25616 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
309T>C |
Arg103Arg |
M0078987 |
PBJHOIEG_00021 |
25682 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
375T>C |
Ile125Ile |
M0078988 |
PBJHOIEG_00021 |
25769 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
462T>C |
Asp154Asp |
M0078989 |
PBJHOIEG_00021 |
25784 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
477T>C |
Arg159Arg |
M0078990 |
PBJHOIEG_00021 |
25787 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
480G>T |
Arg160Arg |
M0078991 |
PBJHOIEG_00021 |
25820 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
513G>T |
Thr171Thr |
M0078992 |
PBJHOIEG_00021 |
25823 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
516T>C |
Arg172Arg |
M0078993 |
PBJHOIEG_00021 |
25874 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
567T>C |
Tyr189Tyr |
M0078994 |
PBJHOIEG_00021 |
25877 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
570A>G |
Glu190Glu |
M0078995 |
PBJHOIEG_00023 |
28542 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
223C>A |
Gln75Lys |
M0078996 |
PBJHOIEG_00023 |
28548 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
217C>T |
Pro73Ser |
M0078997 |
PBJHOIEG_00023 |
28551 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
214T>C |
Phe72Leu |
M0078998 |
PBJHOIEG_00023 |
28569 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
196A>G |
Asn66Asp |
M0078999 |
PBJHOIEG_00023 |
28617 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
148T>C |
Cys50Arg |
M0079000 |
PBJHOIEG_00023 |
28662 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
103G>C |
Gly35Arg |
M0079001 |
PBJHOIEG_00023 |
28668 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
97A>G |
Asn33Asp |
M0079002 |
PBJHOIEG_00023 |
28689 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
76A>G |
Lys26Glu |
M0079003 |
PBJHOIEG_00023 |
28713 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
52G>A |
Gly18Arg |
M0079004 |
PBJHOIEG_00023 |
28723 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
42T>G |
Asp14Glu |
M0079005 |
PBJHOIEG_00023 |
28746 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
19T>C |
Trp7Arg |
M0079006 |
PBJHOIEG_00023 |
28914 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-150T>C |
None |
M0079007 |
PBJHOIEG_00023 |
28935 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-171C>G |
None |
M0079008 |
PBJHOIEG_00023 |
28938 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-174T>C |
None |
M0079009 |
PBJHOIEG_00023 |
28947 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-183A>G |
None |
M0079010 |
PBJHOIEG_00001 |
5308 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4360G>A |
None |
M0079011 |
PBJHOIEG_00001 |
5380 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4432A>G |
None |
M0079012 |
PBJHOIEG_00001 |
5401 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4453A>C |
None |
M0079013 |
PBJHOIEG_00006 |
5416 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
15G>A |
Glu5Glu |
M0079014 |
PBJHOIEG_00001 |
5569 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4621A>G |
None |
M0079015 |
PBJHOIEG_00001 |
5585 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4637C>T |
None |
M0079016 |
PBJHOIEG_00001 |
5597 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4649C>T |
None |
M0079017 |
PBJHOIEG_00001 |
5611 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4663T>C |
None |
M0079018 |
PBJHOIEG_00001 |
5618 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4670G>T |
None |
M0079019 |
PBJHOIEG_00001 |
5651 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4703G>A |
None |
M0079020 |
PBJHOIEG_00007 |
5673 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1672G>A |
Glu558Lys |
M0079021 |
PBJHOIEG_00007 |
5770 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1575A>G |
Glu525Glu |
M0079022 |
PBJHOIEG_00007 |
5816 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1529G>A |
Ser510Asn |
M0079023 |
PBJHOIEG_00007 |
6301 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1044G>A |
Lys348Lys |
M0079024 |
PBJHOIEG_00007 |
6496 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
849A>C |
Ile283Ile |
M0079025 |
PBJHOIEG_00007 |
6602 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
743A>G |
Asp248Gly |
M0079026 |
PBJHOIEG_00007 |
6609 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
736G>A |
Val246Ile |
M0079027 |
PBJHOIEG_00007 |
6640 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
705T>C |
Arg235Arg |
M0079028 |
PBJHOIEG_00007 |
6725 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
620G>A |
Ser207Asn |
M0079029 |
PBJHOIEG_00007 |
6753 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
592A>G |
Ile198Val |
M0079030 |
PBJHOIEG_00007 |
6773 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
572A>G |
Asp191Gly |
M0079031 |
PBJHOIEG_00007 |
6823 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
522G>C |
Thr174Thr |
M0079032 |
PBJHOIEG_00007 |
6841 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
504G>T |
Thr168Thr |
M0079033 |
PBJHOIEG_00007 |
6853 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
492C>T |
Tyr164Tyr |
M0079034 |
PBJHOIEG_00007 |
6859 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
486T>C |
Cys162Cys |
M0079035 |
PBJHOIEG_00007 |
6873 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
472A>G |
Ile158Val |
M0079036 |
PBJHOIEG_00007 |
6877 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
468C>A |
Thr156Thr |
M0079037 |
PBJHOIEG_00007 |
6928 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
417C>T |
Asn139Asn |
M0079038 |
PBJHOIEG_00007 |
7111 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
234T>C |
Asp78Asp |
M0079039 |
PBJHOIEG_00007 |
7150 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
195C>A |
Thr65Thr |
M0079040 |
PBJHOIEG_00005 |
7371 |
6 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2204G>A |
None |
M0079041 |
PBJHOIEG_00008 |
7578 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
3075C>G |
His1025Gln |
M0079042 |
PBJHOIEG_00008 |
7605 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
3048C>T |
Val1016Val |
M0079043 |
PBJHOIEG_00008 |
7617 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
3036G>A |
Glu1012Glu |
M0079044 |
PBJHOIEG_00008 |
7707 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2946G>T |
Arg982Arg |
M0079045 |
PBJHOIEG_00008 |
7774 |
7 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
2879G>C |
Arg960Thr |
M0079046 |
PBJHOIEG_00008 |
7790 |
7 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
2863C>G |
Gln955Glu |
M0079047 |
PBJHOIEG_00008 |
7809 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2844T>C |
Phe948Phe |
M0079048 |
PBJHOIEG_00008 |
7818 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2835A>G |
Leu945Leu |
M0079049 |
PBJHOIEG_00008 |
7845 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2808T>C |
Ile936Ile |
M0079050 |
PBJHOIEG_00008 |
7884 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2769T>C |
His923His |
M0079051 |
PBJHOIEG_00008 |
7950 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
2703T>C |
Ser901Ser |
M0079052 |
PBJHOIEG_00008 |
8028 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2625G>T |
Thr875Thr |
M0079053 |
PBJHOIEG_00008 |
8034 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2619G>A |
Ala873Ala |
M0079054 |
PBJHOIEG_00008 |
8040 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2613T>G |
Ser871Ser |
M0079055 |
PBJHOIEG_00008 |
8075 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
2578C>A |
Leu860Met |
M0079056 |
PBJHOIEG_00008 |
8082 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2571T>C |
Leu857Leu |
M0079057 |
PBJHOIEG_00008 |
8161 |
8 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
2492G>A |
Arg831Lys |
M0079058 |
PBJHOIEG_00008 |
8187 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
2466G>A |
Glu822Glu |
M0079059 |
PBJHOIEG_00008 |
8298 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2355G>A |
Leu785Leu |
M0079060 |
PBJHOIEG_00008 |
8367 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2286A>G |
Glu762Glu |
M0079061 |
PBJHOIEG_00008 |
8376 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
2277T>G |
Leu759Leu |
M0079062 |
PBJHOIEG_00008 |
8379 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2274G>A |
Arg758Arg |
M0079063 |
PBJHOIEG_00008 |
8397 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2256C>A |
Arg752Arg |
M0079064 |
PBJHOIEG_00008 |
8412 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2241A>G |
Glu747Glu |
M0079065 |
PBJHOIEG_00008 |
8457 |
7 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
2196T>G |
Asn732Lys |
M0079066 |
PBJHOIEG_00008 |
8548 |
7 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
2105A>T |
Glu702Val |
M0079067 |
PBJHOIEG_00008 |
8562 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2091G>A |
Glu697Glu |
M0079068 |
PBJHOIEG_00008 |
8585 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2068C>T |
Leu690Leu |
M0079069 |
PBJHOIEG_00008 |
8625 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2028A>T |
Ser676Ser |
M0079070 |
PBJHOIEG_00008 |
8645 |
8 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
2008C>A |
Arg670Ser |
M0079071 |
PBJHOIEG_00008 |
8648 |
7 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
2005A>G |
Asn669Asp |
M0079072 |
PBJHOIEG_00008 |
8745 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1908A>G |
Arg636Arg |
M0079073 |
PBJHOIEG_00008 |
8846 |
8 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
1807G>A |
Val603Ile |
M0079074 |
PBJHOIEG_00008 |
9240 |
10 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1413C>T |
Asp471Asp |
M0079075 |
PBJHOIEG_00008 |
9276 |
10 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1377G>T |
Leu459Leu |
M0079076 |
PBJHOIEG_00008 |
9372 |
10 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1281T>C |
Cys427Cys |
M0079077 |
PBJHOIEG_00008 |
9405 |
10 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1248T>C |
Ala416Ala |
M0079078 |
PBJHOIEG_00008 |
9414 |
10 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1239C>G |
Pro413Pro |
M0079079 |
PBJHOIEG_00008 |
9468 |
10 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1185C>T |
Ser395Ser |
M0079080 |
PBJHOIEG_00008 |
9546 |
10 |
Skin |
0.31 |
protein_coding |
missense_variant |
MODERATE |
1107A>C |
Glu369Asp |
M0079081 |
PBJHOIEG_00008 |
9587 |
10 |
Skin |
0.31 |
protein_coding |
missense_variant |
MODERATE |
1066A>G |
Lys356Glu |
M0079082 |
PBJHOIEG_00008 |
9621 |
10 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1032T>C |
Tyr344Tyr |
M0079083 |
PBJHOIEG_00008 |
9632 |
10 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1021C>T |
Leu341Leu |
M0079084 |
PBJHOIEG_00008 |
9669 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
984A>G |
Lys328Lys |
M0079085 |
PBJHOIEG_00008 |
9729 |
10 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
924G>A |
Lys308Lys |
M0079086 |
PBJHOIEG_00008 |
9734 |
10 |
Skin |
0.31 |
protein_coding |
missense_variant |
MODERATE |
919A>C |
Lys307Gln |
M0079087 |
PBJHOIEG_00008 |
9779 |
11 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
874T>C |
Leu292Leu |
M0079088 |
PBJHOIEG_00008 |
9834 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
819T>C |
Leu273Leu |
M0079089 |
PBJHOIEG_00008 |
9867 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
786G>T |
Pro262Pro |
M0079090 |
PBJHOIEG_00007 |
10774 |
6 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3430C>T |
None |
M0079091 |
PBJHOIEG_00007 |
10785 |
6 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3441C>T |
None |
M0079092 |
PBJHOIEG_00009 |
11310 |
13 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
765T>C |
Ser255Ser |
M0079093 |
PBJHOIEG_00009 |
11863 |
6 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
212A>T |
Lys71Ile |
M0079094 |
PBJHOIEG_00009 |
11972 |
13 |
Skin |
0.41 |
protein_coding |
missense_variant |
MODERATE |
103G>C |
Glu35Gln |
M0079095 |
PBJHOIEG_00007 |
12107 |
15 |
Skin |
0.47 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4763G>A |
None |
M0079096 |
PBJHOIEG_00007 |
12112 |
15 |
Skin |
0.47 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4768A>G |
None |
M0079097 |
PBJHOIEG_00007 |
12145 |
14 |
Skin |
0.44 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4801A>G |
None |
M0079098 |
PBJHOIEG_00007 |
12162 |
7 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4818T>A |
None |
M0079099 |
PBJHOIEG_00007 |
12245 |
13 |
Skin |
0.41 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4901G>T |
None |
M0079100 |
PBJHOIEG_00007 |
12250 |
13 |
Skin |
0.41 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4906G>C |
None |
M0079101 |
PBJHOIEG_00007 |
12281 |
14 |
Skin |
0.44 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4937C>T |
None |
M0079102 |
PBJHOIEG_00007 |
12290 |
15 |
Skin |
0.47 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4946T>A |
None |
M0079103 |
PBJHOIEG_00007 |
12332 |
15 |
Skin |
0.47 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4988T>G |
None |
M0079104 |
PBJHOIEG_00007 |
12344 |
15 |
Skin |
0.47 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-5000T>G |
None |
M0079105 |
PBJHOIEG_00008 |
12573 |
14 |
Skin |
0.44 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1921T>C |
None |
M0079106 |
PBJHOIEG_00008 |
12587 |
13 |
Skin |
0.41 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1935A>G |
None |
M0079107 |
PBJHOIEG_00008 |
12684 |
14 |
Skin |
0.44 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2032G>A |
None |
M0079108 |
PBJHOIEG_00008 |
12703 |
13 |
Skin |
0.41 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2051T>C |
None |
M0079109 |
PBJHOIEG_00010 |
12976 |
15 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
251C>T |
Pro84Leu |
M0079110 |
PBJHOIEG_00010 |
13045 |
8 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
320G>A |
Ser107Asn |
M0079111 |
PBJHOIEG_00010 |
13052 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
327C>T |
Cys109Cys |
M0079112 |
PBJHOIEG_00010 |
13099 |
14 |
Skin |
0.44 |
protein_coding |
missense_variant |
MODERATE |
374C>G |
Ser125Cys |
M0079113 |
PBJHOIEG_00010 |
13126 |
13 |
Skin |
0.41 |
protein_coding |
missense_variant |
MODERATE |
401T>C |
Ile134Thr |
M0079114 |
PBJHOIEG_00010 |
13257 |
8 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
532A>G |
Ile178Val |
M0079115 |
PBJHOIEG_00011 |
13670 |
7 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
13T>C |
Trp5Arg |
M0079116 |
PBJHOIEG_00011 |
13738 |
18 |
Skin |
0.56 |
protein_coding |
synonymous_variant |
LOW |
81A>G |
Gln27Gln |
M0079117 |
PBJHOIEG_00011 |
13774 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
117C>A |
Thr39Thr |
M0079118 |
PBJHOIEG_00008 |
14046 |
7 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3394A>G |
None |
M0079119 |
PBJHOIEG_00008 |
14106 |
11 |
Skin |
0.34 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3454C>T |
None |
M0079120 |
PBJHOIEG_00013 |
15891 |
17 |
Skin |
0.53 |
protein_coding |
synonymous_variant |
LOW |
1203A>G |
Glu401Glu |
M0079121 |
PBJHOIEG_00013 |
16386 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
708G>A |
Val236Val |
M0079122 |
PBJHOIEG_00013 |
16865 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
229C>T |
Leu77Leu |
M0079123 |
PBJHOIEG_00016 |
19278 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1300C>T |
Leu434Leu |
M0079124 |
PBJHOIEG_00016 |
19858 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
720A>G |
Leu240Leu |
M0079125 |
PBJHOIEG_00016 |
19930 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
648C>T |
Ala216Ala |
M0079126 |
PBJHOIEG_00016 |
20209 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
369A>G |
Lys123Lys |
M0079127 |
PBJHOIEG_00016 |
20215 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
363A>G |
Pro121Pro |
M0079128 |
PBJHOIEG_00016 |
20224 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
354C>T |
Phe118Phe |
M0079129 |
PBJHOIEG_00016 |
20230 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
348T>C |
His116His |
M0079130 |
PBJHOIEG_00016 |
20244 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
334A>G |
Ser112Gly |
M0079131 |
PBJHOIEG_00016 |
20311 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
267G>A |
Gln89Gln |
M0079132 |
PBJHOIEG_00016 |
20314 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
264C>T |
Gly88Gly |
M0079133 |
PBJHOIEG_00016 |
20338 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
240T>G |
Val80Val |
M0079134 |
PBJHOIEG_00016 |
20349 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
229C>T |
Leu77Leu |
M0079135 |
PBJHOIEG_00016 |
20368 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
210T>C |
Tyr70Tyr |
M0079136 |
PBJHOIEG_00016 |
20374 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
204C>T |
Ala68Ala |
M0079137 |
PBJHOIEG_00016 |
20377 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
201G>A |
Pro67Pro |
M0079138 |
PBJHOIEG_00016 |
20407 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
171C>A |
Ala57Ala |
M0079139 |
PBJHOIEG_00016 |
20425 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
153C>T |
Ile51Ile |
M0079140 |
PBJHOIEG_00016 |
20431 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
147A>C |
Val49Val |
M0079141 |
PBJHOIEG_00016 |
20437 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
141G>C |
Thr47Thr |
M0079142 |
PBJHOIEG_00016 |
20512 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
66G>A |
Glu22Glu |
M0079143 |
PBJHOIEG_00016 |
20533 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
45T>C |
Ile15Ile |
M0079144 |
PBJHOIEG_00016 |
20560 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
18C>T |
Thr6Thr |
M0079145 |
PBJHOIEG_00013 |
20672 |
6 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3579T>A |
None |
M0079146 |
PBJHOIEG_00017 |
21074 |
5 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
391A>G |
Met131Val |
M0079147 |
PBJHOIEG_00017 |
21178 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
495G>A |
Arg165Arg |
M0079148 |
PBJHOIEG_00017 |
21397 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
714C>T |
Asp238Asp |
M0079149 |
PBJHOIEG_00017 |
21550 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
867G>A |
Ala289Ala |
M0079150 |
PBJHOIEG_00017 |
21592 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
909G>A |
Ala303Ala |
M0079151 |
PBJHOIEG_00017 |
21646 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
963C>T |
Ser321Ser |
M0079152 |
PBJHOIEG_00017 |
21832 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1149C>T |
Gly383Gly |
M0079153 |
PBJHOIEG_00018 |
21970 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
561T>C |
Asp187Asp |
M0079154 |
PBJHOIEG_00018 |
21985 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
546T>C |
Asn182Asn |
M0079155 |
PBJHOIEG_00018 |
22069 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
462T>C |
Ile154Ile |
M0079156 |
PBJHOIEG_00018 |
22156 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
375T>C |
Asp125Asp |
M0079157 |
PBJHOIEG_00018 |
22180 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
351C>T |
Gly117Gly |
M0079158 |
PBJHOIEG_00014 |
22594 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4467T>C |
None |
M0079159 |
PBJHOIEG_00019 |
22737 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
60G>A |
Leu20Leu |
M0079160 |
PBJHOIEG_00019 |
22746 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
His17His |
M0079161 |
PBJHOIEG_00019 |
22752 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
45G>A |
Gln15Gln |
M0079162 |
PBJHOIEG_00014 |
22813 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4686A>G |
None |
M0079163 |
PBJHOIEG_00014 |
22825 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4698G>A |
None |
M0079164 |
PBJHOIEG_00014 |
22829 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4702G>A |
None |
M0079165 |
PBJHOIEG_00014 |
22882 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4755C>G |
None |
M0079166 |
PBJHOIEG_00014 |
22885 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4758G>T |
None |
M0079167 |
PBJHOIEG_00014 |
22888 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4761C>G |
None |
M0079168 |
PBJHOIEG_00014 |
22915 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4788A>C |
None |
M0079169 |
PBJHOIEG_00014 |
22918 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4791C>T |
None |
M0079170 |
PBJHOIEG_00014 |
22919 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4792C>T |
None |
M0079171 |
PBJHOIEG_00014 |
22925 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4798T>C |
None |
M0079172 |
PBJHOIEG_00014 |
22967 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4840T>C |
None |
M0079173 |
PBJHOIEG_00015 |
23148 |
5 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4513G>T |
None |
M0079174 |
PBJHOIEG_00015 |
23151 |
5 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4516A>C |
None |
M0079175 |
PBJHOIEG_00015 |
23163 |
5 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4528A>C |
None |
M0079176 |
PBJHOIEG_00015 |
23164 |
5 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4529A>C |
None |
M0079177 |
PBJHOIEG_00015 |
23165 |
5 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4530A>G |
None |
M0079178 |
PBJHOIEG_00015 |
23169 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4534A>G |
None |
M0079179 |
PBJHOIEG_00015 |
23181 |
5 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4546G>C |
None |
M0079180 |
PBJHOIEG_00015 |
23191 |
7 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4556C>A |
None |
M0079181 |
PBJHOIEG_00015 |
23195 |
7 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4560T>C |
None |
M0079182 |
PBJHOIEG_00015 |
23220 |
5 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4585C>T |
None |
M0079183 |
PBJHOIEG_00015 |
23243 |
7 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4608G>A |
None |
M0079184 |
PBJHOIEG_00020 |
23350 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
90C>A |
Ser30Ser |
M0079185 |
PBJHOIEG_00020 |
23420 |
8 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
160G>A |
Val54Ile |
M0079186 |
PBJHOIEG_00020 |
23443 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
183T>C |
Thr61Thr |
M0079187 |
PBJHOIEG_00020 |
23454 |
9 |
Skin |
0.28 |
protein_coding |
missense_variant |
MODERATE |
194A>G |
His65Arg |
M0079188 |
PBJHOIEG_00020 |
23539 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
279T>C |
Gly93Gly |
M0079189 |
PBJHOIEG_00020 |
23546 |
7 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
286G>A |
Asp96Asn |
M0079190 |
PBJHOIEG_00020 |
23652 |
9 |
Skin |
0.28 |
protein_coding |
missense_variant |
MODERATE |
392A>C |
Asp131Ala |
M0079191 |
PBJHOIEG_00020 |
23665 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
405C>T |
Asp135Asp |
M0079192 |
PBJHOIEG_00020 |
23671 |
10 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
411G>A |
Ala137Ala |
M0079193 |
PBJHOIEG_00020 |
23672 |
8 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
412C>A |
Gln138Lys |
M0079194 |
PBJHOIEG_00020 |
23683 |
10 |
Skin |
0.31 |
protein_coding |
missense_variant |
MODERATE |
423C>G |
Asp141Glu |
M0079195 |
PBJHOIEG_00020 |
23707 |
10 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
447A>G |
Gly149Gly |
M0079196 |
PBJHOIEG_00020 |
23708 |
10 |
Skin |
0.31 |
protein_coding |
missense_variant |
MODERATE |
448G>C |
Ala150Pro |
M0079197 |
PBJHOIEG_00020 |
23755 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
495T>C |
Arg165Arg |
M0079198 |
PBJHOIEG_00020 |
23758 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
498A>G |
Gln166Gln |
M0079199 |
PBJHOIEG_00020 |
23759 |
8 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
499A>G |
Ile167Val |
M0079200 |
PBJHOIEG_00020 |
23761 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
501A>C |
Ile167Ile |
M0079201 |
PBJHOIEG_00020 |
23819 |
9 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
559T>C |
Leu187Leu |
M0079202 |
PBJHOIEG_00020 |
23885 |
7 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
625G>A |
Ala209Thr |
M0079203 |
PBJHOIEG_00020 |
23902 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
642A>G |
Glu214Glu |
M0079204 |
PBJHOIEG_00020 |
23905 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
645T>A |
Thr215Thr |
M0079205 |
PBJHOIEG_00020 |
23910 |
5 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
650C>T |
Ala217Val |
M0079206 |
PBJHOIEG_00020 |
23916 |
6 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
656A>G |
Asn219Ser |
M0079207 |
PBJHOIEG_00020 |
23932 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
672G>A |
Lys224Lys |
M0079208 |
PBJHOIEG_00020 |
23946 |
8 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
686G>A |
Gly229Asp |
M0079209 |
PBJHOIEG_00020 |
23947 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
687T>C |
Gly229Gly |
M0079210 |
PBJHOIEG_00020 |
24025 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
765T>C |
Leu255Leu |
M0079211 |
PBJHOIEG_00020 |
24026 |
5 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
766A>C |
Ile256Leu |
M0079212 |
PBJHOIEG_00020 |
24039 |
5 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
779C>T |
Ala260Val |
M0079213 |
PBJHOIEG_00020 |
24048 |
8 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
788T>C |
Leu263Pro |
M0079214 |
PBJHOIEG_00020 |
24051 |
6 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
791T>C |
Leu264Pro |
M0079215 |
PBJHOIEG_00020 |
24052 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
792C>A |
Leu264Leu |
M0079216 |
PBJHOIEG_00020 |
24057 |
5 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
797A>C |
Asn266Thr |
M0079217 |
PBJHOIEG_00020 |
24085 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
825A>G |
Gln275Gln |
M0079218 |
PBJHOIEG_00020 |
24103 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
843G>A |
Leu281Leu |
M0079219 |
PBJHOIEG_00020 |
24111 |
7 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
851A>G |
His284Arg |
M0079220 |
PBJHOIEG_00020 |
24139 |
8 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
879G>A |
Ala293Ala |
M0079221 |
PBJHOIEG_00021 |
26138 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
831A>C |
Ile277Ile |
M0079222 |
PBJHOIEG_00021 |
26192 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
885T>C |
Arg295Arg |
M0079223 |
PBJHOIEG_00021 |
26223 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
916A>G |
Ile306Val |
M0079224 |
PBJHOIEG_00021 |
26279 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
972C>T |
Thr324Thr |
M0079225 |
PBJHOIEG_00021 |
26426 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1119T>C |
Ile373Ile |
M0079226 |
PBJHOIEG_00008 |
9233 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1420A>G |
Ile474Val |
M0079227 |
PBJHOIEG_00007 |
12279 |
6 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4935G>A |
None |
M0079228 |
PBJHOIEG_00010 |
12924 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
199A>C |
Ser67Arg |
M0079229 |
PBJHOIEG_00010 |
13299 |
11 |
Skin |
0.34 |
protein_coding |
missense_variant |
MODERATE |
574T>C |
Cys192Arg |
M0079230 |
PBJHOIEG_00010 |
13350 |
4 |
Skin |
0.13 |
protein_coding |
stop_gained |
HIGH |
625C>T |
Gln209* |
M0079231 |
PBJHOIEG_00011 |
13894 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
237G>A |
Glu79Glu |
M0079232 |
PBJHOIEG_00008 |
15300 |
7 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4648G>A |
None |
M0079233 |
PBJHOIEG_00008 |
15315 |
7 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4663A>G |
None |
M0079234 |
PBJHOIEG_00013 |
15510 |
5 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1584T>C |
Ala528Ala |
M0079235 |
PBJHOIEG_00013 |
15888 |
7 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1206T>C |
Gly402Gly |
M0079236 |
PBJHOIEG_00013 |
16090 |
5 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1004T>C |
Val335Ala |
M0079237 |
PBJHOIEG_00013 |
16208 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
886A>G |
Thr296Ala |
M0079238 |
PBJHOIEG_00013 |
16244 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
850C>T |
Arg284Cys |
M0079239 |
PBJHOIEG_00013 |
16962 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
132C>A |
Arg44Arg |
M0079240 |
PBJHOIEG_00012 |
17117 |
5 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1856G>T |
None |
M0079241 |
PBJHOIEG_00020 |
23471 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
211G>A |
Glu71Lys |
M0079242 |
PBJHOIEG_00021 |
25931 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
624T>C |
Tyr208Tyr |
M0079243 |
PBJHOIEG_00021 |
25955 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
648C>T |
Thr216Thr |
M0079244 |
PBJHOIEG_00021 |
25967 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
660T>C |
Ile220Ile |
M0079245 |
PBJHOIEG_00021 |
25970 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
663A>G |
Leu221Leu |
M0079246 |
PBJHOIEG_00021 |
26033 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
726T>C |
Ala242Ala |
M0079247 |
PBJHOIEG_00021 |
26057 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
750A>G |
Glu250Glu |
M0079248 |
PBJHOIEG_00007 |
6943 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
402C>T |
Phe134Phe |
M0079249 |
PBJHOIEG_00007 |
6958 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
387T>C |
Ala129Ala |
M0079250 |
PBJHOIEG_00007 |
7216 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
129G>A |
Glu43Glu |
M0079251 |
PBJHOIEG_00007 |
7222 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
123G>A |
Ala41Ala |
M0079252 |
PBJHOIEG_00007 |
7243 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
102C>T |
Asn34Asn |
M0079253 |
PBJHOIEG_00008 |
7487 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
3166A>G |
Thr1056Ala |
M0079254 |
PBJHOIEG_00008 |
7866 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2787G>A |
Val929Val |
M0079255 |
PBJHOIEG_00008 |
7869 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
2784C>G |
Asp928Glu |
M0079256 |
PBJHOIEG_00008 |
8133 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2520C>T |
Leu840Leu |
M0079257 |
PBJHOIEG_00009 |
11961 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
114A>G |
Thr38Thr |
M0079258 |
PBJHOIEG_00010 |
13442 |
6 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
717G>A |
Gln239Gln |
M0079259 |
PBJHOIEG_00016 |
19831 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
747T>C |
Ile249Ile |
M0079260 |
PBJHOIEG_00008 |
12499 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1847A>T |
None |
M0079261 |
PBJHOIEG_00008 |
12509 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1857A>G |
None |
M0079262 |
PBJHOIEG_00017 |
20797 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
114G>A |
Leu38Leu |
M0079263 |
PBJHOIEG_00017 |
20801 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
118A>T |
Asn40Tyr |
M0079264 |
PBJHOIEG_00017 |
20802 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
119A>C |
Asn40Thr |
M0079265 |
PBJHOIEG_00020 |
23776 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
516A>T |
Arg172Arg |
M0079266 |
PBJHOIEG_00021 |
25487 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
180C>T |
Asp60Asp |
M0079267 |
PBJHOIEG_00021 |
25606 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
299G>C |
Arg100Pro |
M0079268 |
PBJHOIEG_00021 |
25736 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
429A>G |
Leu143Leu |
M0079269 |
PBJHOIEG_00021 |
25808 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
501G>A |
Leu167Leu |
M0079270 |
PBJHOIEG_00021 |
25898 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
591T>C |
Ala197Ala |
M0079271 |
PBJHOIEG_00010 |
13276 |
5 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
551C>T |
Ser184Leu |
M0079272 |
PBJHOIEG_00010 |
13324 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
599A>G |
Lys200Arg |
M0079273 |
PBJHOIEG_00011 |
13787 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
130G>T |
Asp44Tyr |
M0079274 |
PBJHOIEG_00008 |
13941 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3289A>C |
None |
M0079275 |
PBJHOIEG_00008 |
14096 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3444C>A |
None |
M0079276 |
PBJHOIEG_00013 |
15566 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1528G>A |
Glu510Lys |
M0079277 |
PBJHOIEG_00013 |
15828 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1266G>A |
Arg422Arg |
M0079278 |
PBJHOIEG_00017 |
21140 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
457C>T |
Leu153Leu |
M0079279 |
PBJHOIEG_00015 |
23209 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4574T>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 |
PBJHOIEG_00012 |
QQN48070.1|CE1 |
100 |
1.68e-251 |
1 |
337 |
1 |
1 |
PBJHOIEG_00013 |
QQN48069.1|GT89 |
95.4 |
0 |
1 |
564 |
1 |
1 |
PBJHOIEG_00016 |
QQN48066.1|GT2 |
99.7 |
0 |
1 |
650 |
1 |
1 |
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 |