Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C3236 |
Reference Plasmid |
MET0503_bin.4__k81_18415 |
Reference Plasmid Size |
13499 |
Reference Plasmid GC Content |
0.65 |
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 |
M0080987 |
EJCIFCLI_00004 |
5933 |
14 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
1525G>A |
Ala509Thr |
M0080988 |
EJCIFCLI_00004 |
6135 |
11 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1323C>G |
Ser441Ser |
M0080989 |
EJCIFCLI_00004 |
6137 |
11 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1321T>C |
Ser441Pro |
M0080990 |
EJCIFCLI_00004 |
6138 |
11 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1320A>G |
Glu440Glu |
M0080991 |
EJCIFCLI_00004 |
6145 |
13 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1313C>T |
Pro438Leu |
M0080992 |
EJCIFCLI_00004 |
6185 |
25 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
1273T>C |
Leu425Leu |
M0080993 |
EJCIFCLI_00004 |
6188 |
25 |
Skin |
0.45 |
protein_coding |
missense_variant |
MODERATE |
1270A>G |
Thr424Ala |
M0080994 |
EJCIFCLI_00004 |
6195 |
16 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
1263A>T |
Thr421Thr |
M0080995 |
EJCIFCLI_00004 |
6204 |
25 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
1254A>G |
Pro418Pro |
M0080996 |
EJCIFCLI_00004 |
6219 |
12 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1239G>A |
Val413Val |
M0080997 |
EJCIFCLI_00004 |
6231 |
11 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1227C>T |
Ala409Ala |
M0080998 |
EJCIFCLI_00004 |
6242 |
20 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
1216G>C |
Val406Leu |
M0080999 |
EJCIFCLI_00004 |
6273 |
12 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1185A>G |
Gln395Gln |
M0081000 |
EJCIFCLI_00004 |
6277 |
12 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1181G>A |
Arg394Lys |
M0081001 |
EJCIFCLI_00004 |
6278 |
12 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1180A>G |
Arg394Gly |
M0081002 |
EJCIFCLI_00004 |
6315 |
28 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
1143G>A |
Glu381Glu |
M0081003 |
EJCIFCLI_00004 |
6355 |
43 |
Skin |
0.77 |
protein_coding |
missense_variant |
MODERATE |
1103A>G |
His368Arg |
M0081004 |
EJCIFCLI_00004 |
6382 |
32 |
Skin |
0.57 |
protein_coding |
missense_variant |
MODERATE |
1076A>C |
Glu359Ala |
M0081005 |
EJCIFCLI_00004 |
6383 |
28 |
Skin |
0.50 |
protein_coding |
missense_variant |
MODERATE |
1075G>A |
Glu359Lys |
M0081006 |
EJCIFCLI_00004 |
6390 |
28 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
1068G>C |
Leu356Leu |
M0081007 |
EJCIFCLI_00004 |
6392 |
28 |
Skin |
0.50 |
protein_coding |
missense_variant |
MODERATE |
1066C>G |
Leu356Val |
M0081008 |
EJCIFCLI_00004 |
6411 |
25 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
1047A>T |
Ala349Ala |
M0081009 |
EJCIFCLI_00004 |
6418 |
17 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
1040A>C |
Asn347Thr |
M0081010 |
EJCIFCLI_00004 |
6432 |
28 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
1026A>C |
Ala342Ala |
M0081011 |
EJCIFCLI_00004 |
6435 |
29 |
Skin |
0.52 |
protein_coding |
synonymous_variant |
LOW |
1023A>G |
Lys341Lys |
M0081012 |
EJCIFCLI_00004 |
6476 |
26 |
Skin |
0.46 |
protein_coding |
missense_variant |
MODERATE |
982G>A |
Ala328Thr |
M0081013 |
EJCIFCLI_00004 |
6480 |
26 |
Skin |
0.46 |
protein_coding |
synonymous_variant |
LOW |
978G>A |
Glu326Glu |
M0081014 |
EJCIFCLI_00004 |
6489 |
26 |
Skin |
0.46 |
protein_coding |
synonymous_variant |
LOW |
969A>G |
Gln323Gln |
M0081015 |
EJCIFCLI_00004 |
6541 |
15 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
917G>C |
Gly306Ala |
M0081016 |
EJCIFCLI_00004 |
6544 |
15 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
914C>T |
Ala305Val |
M0081017 |
EJCIFCLI_00004 |
6574 |
30 |
Skin |
0.54 |
protein_coding |
missense_variant |
MODERATE |
884A>G |
Asp295Gly |
M0081018 |
EJCIFCLI_00004 |
6607 |
7 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
851C>T |
Thr284Ile |
M0081019 |
EJCIFCLI_00004 |
6608 |
8 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
850A>G |
Thr284Ala |
M0081020 |
EJCIFCLI_00004 |
6639 |
27 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
819A>G |
Glu273Glu |
M0081021 |
EJCIFCLI_00004 |
6723 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
735A>G |
Ala245Ala |
M0081022 |
EJCIFCLI_00004 |
6781 |
17 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
677A>C |
Asn226Thr |
M0081023 |
EJCIFCLI_00004 |
6789 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
669G>A |
Gln223Gln |
M0081024 |
EJCIFCLI_00004 |
6792 |
31 |
Skin |
0.55 |
protein_coding |
missense_variant |
MODERATE |
666A>T |
Glu222Asp |
M0081025 |
EJCIFCLI_00004 |
6814 |
30 |
Skin |
0.54 |
protein_coding |
missense_variant |
MODERATE |
644A>G |
Lys215Arg |
M0081026 |
EJCIFCLI_00004 |
6820 |
26 |
Skin |
0.46 |
protein_coding |
missense_variant |
MODERATE |
638G>A |
Gly213Asp |
M0081027 |
EJCIFCLI_00004 |
6823 |
26 |
Skin |
0.46 |
protein_coding |
missense_variant |
MODERATE |
635C>T |
Thr212Ile |
M0081028 |
EJCIFCLI_00004 |
6824 |
28 |
Skin |
0.50 |
protein_coding |
missense_variant |
MODERATE |
634A>G |
Thr212Ala |
M0081029 |
EJCIFCLI_00004 |
6842 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
616G>A |
Ala206Thr |
M0081030 |
EJCIFCLI_00004 |
6847 |
36 |
Skin |
0.64 |
protein_coding |
missense_variant |
MODERATE |
611A>G |
His204Arg |
M0081031 |
EJCIFCLI_00004 |
6853 |
36 |
Skin |
0.64 |
protein_coding |
missense_variant |
MODERATE |
605A>G |
Lys202Arg |
M0081032 |
EJCIFCLI_00004 |
6854 |
36 |
Skin |
0.64 |
protein_coding |
missense_variant |
MODERATE |
604A>G |
Lys202Glu |
M0081033 |
EJCIFCLI_00004 |
6882 |
22 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
576A>G |
Lys192Lys |
M0081034 |
EJCIFCLI_00004 |
6892 |
28 |
Skin |
0.50 |
protein_coding |
missense_variant |
MODERATE |
566G>C |
Gly189Ala |
M0081035 |
EJCIFCLI_00004 |
6936 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
522G>A |
Gly174Gly |
M0081036 |
EJCIFCLI_00004 |
6941 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
517C>T |
His173Tyr |
M0081037 |
EJCIFCLI_00004 |
6948 |
34 |
Skin |
0.61 |
protein_coding |
synonymous_variant |
LOW |
510A>G |
Arg170Arg |
M0081038 |
EJCIFCLI_00004 |
6953 |
20 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
505C>A |
Arg169Arg |
M0081039 |
EJCIFCLI_00004 |
6955 |
20 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
503C>T |
Thr168Ile |
M0081040 |
EJCIFCLI_00004 |
6962 |
23 |
Skin |
0.41 |
protein_coding |
missense_variant |
MODERATE |
496G>A |
Ala166Thr |
M0081041 |
EJCIFCLI_00004 |
6965 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
493G>A |
Ala165Thr |
M0081042 |
EJCIFCLI_00004 |
6966 |
38 |
Skin |
0.68 |
protein_coding |
synonymous_variant |
LOW |
492A>G |
Gly164Gly |
M0081043 |
EJCIFCLI_00004 |
7015 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
443C>T |
Thr148Met |
M0081044 |
EJCIFCLI_00004 |
7053 |
16 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
405G>A |
Ala135Ala |
M0081045 |
EJCIFCLI_00004 |
7089 |
17 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
369A>G |
Arg123Arg |
M0081046 |
EJCIFCLI_00004 |
7160 |
28 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
298T>C |
Leu100Leu |
M0081047 |
EJCIFCLI_00004 |
7164 |
28 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
294A>G |
Ala98Ala |
M0081048 |
EJCIFCLI_00004 |
7173 |
26 |
Skin |
0.46 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Ser95Ser |
M0081049 |
EJCIFCLI_00004 |
7245 |
26 |
Skin |
0.46 |
protein_coding |
synonymous_variant |
LOW |
213C>A |
Val71Val |
M0081050 |
EJCIFCLI_00004 |
7263 |
27 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
195A>G |
Gln65Gln |
M0081051 |
EJCIFCLI_00004 |
7296 |
41 |
Skin |
0.73 |
protein_coding |
synonymous_variant |
LOW |
162T>C |
His54His |
M0081052 |
EJCIFCLI_00004 |
7306 |
5 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
152G>A |
Arg51Lys |
M0081053 |
EJCIFCLI_00004 |
7323 |
25 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
135T>C |
Gly45Gly |
M0081054 |
EJCIFCLI_00004 |
7325 |
24 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
133G>A |
Gly45Ser |
M0081055 |
EJCIFCLI_00002 |
7477 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4546C>T |
None |
M0081056 |
EJCIFCLI_00002 |
7494 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4563A>G |
None |
M0081057 |
EJCIFCLI_00002 |
7516 |
12 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4585C>G |
None |
M0081058 |
EJCIFCLI_00002 |
7526 |
12 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4595A>C |
None |
M0081059 |
EJCIFCLI_00005 |
7689 |
9 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1098C>G |
Ala366Ala |
M0081060 |
EJCIFCLI_00005 |
7701 |
21 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
1086G>A |
Arg362Arg |
M0081061 |
EJCIFCLI_00005 |
7719 |
24 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
1068T>C |
Ala356Ala |
M0081062 |
EJCIFCLI_00005 |
7759 |
11 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1028G>A |
Arg343Gln |
M0081063 |
EJCIFCLI_00005 |
7884 |
16 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
903C>G |
Ser301Ser |
M0081064 |
EJCIFCLI_00005 |
7929 |
29 |
Skin |
0.52 |
protein_coding |
synonymous_variant |
LOW |
858C>T |
Tyr286Tyr |
M0081065 |
EJCIFCLI_00005 |
7971 |
31 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
816A>G |
Lys272Lys |
M0081066 |
EJCIFCLI_00005 |
7982 |
26 |
Skin |
0.46 |
protein_coding |
synonymous_variant |
LOW |
805T>C |
Leu269Leu |
M0081067 |
EJCIFCLI_00005 |
7995 |
27 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
792A>G |
Glu264Glu |
M0081068 |
EJCIFCLI_00005 |
8025 |
22 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
762T>A |
Thr254Thr |
M0081069 |
EJCIFCLI_00005 |
8033 |
23 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
754C>T |
Leu252Leu |
M0081070 |
EJCIFCLI_00005 |
8065 |
24 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
722C>T |
Ala241Val |
M0081071 |
EJCIFCLI_00005 |
8073 |
25 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
714A>G |
Glu238Glu |
M0081072 |
EJCIFCLI_00005 |
8106 |
17 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
681T>C |
Gly227Gly |
M0081073 |
EJCIFCLI_00005 |
8112 |
36 |
Skin |
0.64 |
protein_coding |
synonymous_variant |
LOW |
675A>G |
Glu225Glu |
M0081074 |
EJCIFCLI_00005 |
8139 |
14 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
648C>T |
Gly216Gly |
M0081075 |
EJCIFCLI_00005 |
8157 |
17 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
630T>C |
Gly210Gly |
M0081076 |
EJCIFCLI_00005 |
8174 |
20 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
613C>T |
Pro205Ser |
M0081077 |
EJCIFCLI_00005 |
8175 |
28 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
612A>G |
Pro204Pro |
M0081078 |
EJCIFCLI_00005 |
8190 |
20 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
597C>T |
Arg199Arg |
M0081079 |
EJCIFCLI_00005 |
8196 |
26 |
Skin |
0.46 |
protein_coding |
synonymous_variant |
LOW |
591A>T |
Gly197Gly |
M0081080 |
EJCIFCLI_00005 |
8213 |
24 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
574G>A |
Gly192Ser |
M0081081 |
EJCIFCLI_00005 |
8217 |
22 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
570A>C |
Ala190Ala |
M0081082 |
EJCIFCLI_00005 |
8240 |
23 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
547C>T |
Leu183Leu |
M0081083 |
EJCIFCLI_00005 |
8262 |
18 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
525G>A |
Ala175Ala |
M0081084 |
EJCIFCLI_00005 |
8268 |
18 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
519T>C |
Ser173Ser |
M0081085 |
EJCIFCLI_00005 |
8286 |
23 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
501G>A |
Gly167Gly |
M0081086 |
EJCIFCLI_00005 |
8312 |
22 |
Skin |
0.39 |
protein_coding |
missense_variant |
MODERATE |
475G>C |
Val159Leu |
M0081087 |
EJCIFCLI_00005 |
8333 |
31 |
Skin |
0.55 |
protein_coding |
missense_variant |
MODERATE |
454A>T |
Thr152Ser |
M0081088 |
EJCIFCLI_00005 |
8379 |
30 |
Skin |
0.54 |
protein_coding |
synonymous_variant |
LOW |
408A>G |
Arg136Arg |
M0081089 |
EJCIFCLI_00005 |
8394 |
29 |
Skin |
0.52 |
protein_coding |
synonymous_variant |
LOW |
393G>A |
Val131Val |
M0081090 |
EJCIFCLI_00005 |
8402 |
36 |
Skin |
0.64 |
protein_coding |
missense_variant |
MODERATE |
385A>G |
Ile129Val |
M0081091 |
EJCIFCLI_00005 |
8493 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
294G>A |
Pro98Pro |
M0081092 |
EJCIFCLI_00005 |
8496 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
291G>A |
Glu97Glu |
M0081093 |
EJCIFCLI_00006 |
9315 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
150G>A |
Val50Val |
M0081094 |
EJCIFCLI_00006 |
9675 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
510C>T |
Leu170Leu |
M0081095 |
EJCIFCLI_00006 |
9753 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
588T>C |
Gly196Gly |
M0081096 |
EJCIFCLI_00006 |
9783 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
618C>A |
Thr206Thr |
M0081097 |
EJCIFCLI_00006 |
9790 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
625T>C |
Leu209Leu |
M0081098 |
EJCIFCLI_00006 |
9813 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
648T>C |
Phe216Phe |
M0081099 |
EJCIFCLI_00006 |
9816 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
651C>T |
Gly217Gly |
M0081100 |
EJCIFCLI_00006 |
9822 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
657T>C |
Ile219Ile |
M0081101 |
EJCIFCLI_00006 |
9846 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
681C>A |
Ala227Ala |
M0081102 |
EJCIFCLI_00006 |
9925 |
7 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
760G>T |
Ala254Ser |
M0081103 |
EJCIFCLI_00006 |
9968 |
8 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
803T>C |
Val268Ala |
M0081104 |
EJCIFCLI_00006 |
9990 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
825G>C |
Val275Val |
M0081105 |
EJCIFCLI_00003 |
3043 |
17 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
67C>T |
Pro23Ser |
M0081106 |
EJCIFCLI_00003 |
3123 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Asp49Asp |
M0081107 |
EJCIFCLI_00003 |
3126 |
14 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
150A>G |
Ser50Ser |
M0081108 |
EJCIFCLI_00003 |
3129 |
10 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
153T>C |
Ala51Ala |
M0081109 |
EJCIFCLI_00003 |
3165 |
12 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
189C>T |
Gly63Gly |
M0081110 |
EJCIFCLI_00003 |
3174 |
17 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
198T>C |
Val66Val |
M0081111 |
EJCIFCLI_00003 |
3384 |
18 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
408C>T |
Ala136Ala |
M0081112 |
EJCIFCLI_00003 |
3387 |
18 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
411A>G |
Gln137Gln |
M0081113 |
EJCIFCLI_00003 |
3390 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
414A>T |
Gly138Gly |
M0081114 |
EJCIFCLI_00003 |
3486 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
510G>A |
Gly170Gly |
M0081115 |
EJCIFCLI_00003 |
3559 |
18 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
583T>C |
Leu195Leu |
M0081116 |
EJCIFCLI_00003 |
3582 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
606G>A |
Gly202Gly |
M0081117 |
EJCIFCLI_00003 |
3599 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
623C>T |
Ala208Val |
M0081118 |
EJCIFCLI_00003 |
3615 |
16 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
639C>T |
Cys213Cys |
M0081119 |
EJCIFCLI_00003 |
3652 |
20 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
676G>A |
Val226Ile |
M0081120 |
EJCIFCLI_00003 |
3655 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
679G>A |
Val227Ile |
M0081121 |
EJCIFCLI_00003 |
3660 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
684T>C |
Arg228Arg |
M0081122 |
EJCIFCLI_00003 |
3675 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
699G>A |
Gly233Gly |
M0081123 |
EJCIFCLI_00003 |
3681 |
19 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
705T>C |
Ser235Ser |
M0081124 |
EJCIFCLI_00003 |
3727 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
751G>A |
Val251Ile |
M0081125 |
EJCIFCLI_00003 |
3862 |
18 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
886T>C |
Leu296Leu |
M0081126 |
EJCIFCLI_00003 |
3876 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
900G>A |
Gly300Gly |
M0081127 |
EJCIFCLI_00003 |
3885 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
909G>A |
Gly303Gly |
M0081128 |
EJCIFCLI_00003 |
3897 |
18 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
921T>C |
Thr307Thr |
M0081129 |
EJCIFCLI_00003 |
3912 |
22 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
936T>C |
Gly312Gly |
M0081130 |
EJCIFCLI_00003 |
3915 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
939T>C |
Ala313Ala |
M0081131 |
EJCIFCLI_00003 |
3939 |
20 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
963A>G |
Lys321Lys |
M0081132 |
EJCIFCLI_00003 |
3945 |
20 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
969T>C |
Thr323Thr |
M0081133 |
EJCIFCLI_00003 |
3957 |
19 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
981A>G |
Ala327Ala |
M0081134 |
EJCIFCLI_00003 |
3966 |
20 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
990G>A |
Gly330Gly |
M0081135 |
EJCIFCLI_00003 |
4000 |
22 |
Skin |
0.39 |
protein_coding |
missense_variant |
MODERATE |
1024A>G |
Ile342Val |
M0081136 |
EJCIFCLI_00003 |
4014 |
14 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1038T>C |
Arg346Arg |
M0081137 |
EJCIFCLI_00003 |
4024 |
14 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1048T>C |
Leu350Leu |
M0081138 |
EJCIFCLI_00003 |
4035 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1059T>C |
Ser353Ser |
M0081139 |
EJCIFCLI_00003 |
4043 |
15 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1067G>A |
Gly356Asp |
M0081140 |
EJCIFCLI_00003 |
4072 |
12 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1096C>T |
Leu366Leu |
M0081141 |
EJCIFCLI_00003 |
4186 |
7 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1210C>G |
Leu404Val |
M0081142 |
EJCIFCLI_00003 |
4224 |
18 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1248G>T |
Ala416Ala |
M0081143 |
EJCIFCLI_00003 |
4237 |
22 |
Skin |
0.39 |
protein_coding |
missense_variant |
MODERATE |
1261C>T |
Pro421Ser |
M0081144 |
EJCIFCLI_00003 |
4263 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1287G>T |
Val429Val |
M0081145 |
EJCIFCLI_00003 |
4266 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1290C>T |
Ala430Ala |
M0081146 |
EJCIFCLI_00004 |
4728 |
9 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
2730C>T |
Asp910Asp |
M0081147 |
EJCIFCLI_00004 |
4733 |
23 |
Skin |
0.41 |
protein_coding |
missense_variant |
MODERATE |
2725G>A |
Gly909Ser |
M0081148 |
EJCIFCLI_00004 |
4743 |
10 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
2715A>G |
Thr905Thr |
M0081149 |
EJCIFCLI_00004 |
4791 |
9 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
2667G>A |
Thr889Thr |
M0081150 |
EJCIFCLI_00004 |
4944 |
25 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
2514A>G |
Gly838Gly |
M0081151 |
EJCIFCLI_00004 |
4947 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
2511G>A |
Ser837Ser |
M0081152 |
EJCIFCLI_00004 |
4971 |
14 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
2487G>A |
Gly829Gly |
M0081153 |
EJCIFCLI_00004 |
4977 |
12 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
2481A>T |
Gly827Gly |
M0081154 |
EJCIFCLI_00004 |
4992 |
10 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
2466G>A |
Gly822Gly |
M0081155 |
EJCIFCLI_00004 |
5001 |
10 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
2457G>A |
Arg819Arg |
M0081156 |
EJCIFCLI_00004 |
5022 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
2436A>G |
Val812Val |
M0081157 |
EJCIFCLI_00004 |
5079 |
10 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
2379A>G |
Pro793Pro |
M0081158 |
EJCIFCLI_00004 |
5120 |
15 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
2338C>T |
Leu780Phe |
M0081159 |
EJCIFCLI_00004 |
5124 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
2334G>A |
Thr778Thr |
M0081160 |
EJCIFCLI_00004 |
5130 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
2328C>T |
Ala776Ala |
M0081161 |
EJCIFCLI_00004 |
5139 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
2319G>A |
Lys773Lys |
M0081162 |
EJCIFCLI_00004 |
5166 |
10 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
2292C>T |
Ser764Ser |
M0081163 |
EJCIFCLI_00004 |
5228 |
19 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
2230T>C |
Leu744Leu |
M0081164 |
EJCIFCLI_00004 |
5421 |
19 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
2037G>A |
Arg679Arg |
M0081165 |
EJCIFCLI_00004 |
5440 |
12 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
2018C>T |
Ala673Val |
M0081166 |
EJCIFCLI_00004 |
5521 |
27 |
Skin |
0.48 |
protein_coding |
missense_variant |
MODERATE |
1937T>C |
Ile646Thr |
M0081167 |
EJCIFCLI_00004 |
5556 |
16 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
1902C>T |
Ala634Ala |
M0081168 |
EJCIFCLI_00004 |
5571 |
10 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1887G>A |
Glu629Glu |
M0081169 |
EJCIFCLI_00004 |
5613 |
12 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1845T>C |
Asp615Asp |
M0081170 |
EJCIFCLI_00004 |
5926 |
5 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1532G>A |
Arg511Gln |
M0081171 |
EJCIFCLI_00004 |
6102 |
11 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1356A>C |
Gln452His |
M0081172 |
EJCIFCLI_00004 |
6140 |
13 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1318G>A |
Glu440Lys |
M0081173 |
EJCIFCLI_00004 |
6147 |
14 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1311G>A |
Glu437Glu |
M0081174 |
EJCIFCLI_00004 |
6164 |
14 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1294T>C |
Leu432Leu |
M0081175 |
EJCIFCLI_00004 |
6165 |
14 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1293A>G |
Glu431Glu |
M0081176 |
EJCIFCLI_00004 |
6330 |
13 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1128C>T |
Asn376Asn |
M0081177 |
EJCIFCLI_00004 |
6366 |
10 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1092G>A |
Gln364Gln |
M0081178 |
EJCIFCLI_00004 |
6519 |
20 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
939A>G |
Gln313Gln |
M0081179 |
EJCIFCLI_00004 |
6522 |
11 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
936A>G |
Lys312Lys |
M0081180 |
EJCIFCLI_00004 |
6530 |
12 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
928G>A |
Asp310Asn |
M0081181 |
EJCIFCLI_00004 |
6575 |
11 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
883G>A |
Asp295Asn |
M0081182 |
EJCIFCLI_00004 |
6609 |
11 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
849C>T |
Ala283Ala |
M0081183 |
EJCIFCLI_00004 |
6657 |
12 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
801A>G |
Glu267Glu |
M0081184 |
EJCIFCLI_00004 |
6709 |
5 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
749C>T |
Ala250Val |
M0081185 |
EJCIFCLI_00004 |
6713 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
745C>T |
Leu249Leu |
M0081186 |
EJCIFCLI_00004 |
6717 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
741T>G |
Gly247Gly |
M0081187 |
EJCIFCLI_00004 |
6735 |
18 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
723C>T |
His241His |
M0081188 |
EJCIFCLI_00004 |
6740 |
22 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
718A>C |
Arg240Arg |
M0081189 |
EJCIFCLI_00004 |
6771 |
18 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
687C>T |
Gly229Gly |
M0081190 |
EJCIFCLI_00004 |
6780 |
9 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
678C>T |
Asn226Asn |
M0081191 |
EJCIFCLI_00004 |
6790 |
9 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
668A>G |
Gln223Arg |
M0081192 |
EJCIFCLI_00004 |
6831 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
627A>G |
Ala209Ala |
M0081193 |
EJCIFCLI_00004 |
6841 |
8 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
617C>T |
Ala206Val |
M0081194 |
EJCIFCLI_00004 |
6849 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
609G>A |
Glu203Glu |
M0081195 |
EJCIFCLI_00004 |
6873 |
30 |
Skin |
0.54 |
protein_coding |
synonymous_variant |
LOW |
585C>T |
Arg195Arg |
M0081196 |
EJCIFCLI_00004 |
6935 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
523C>T |
Leu175Leu |
M0081197 |
EJCIFCLI_00004 |
7019 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
439C>T |
Leu147Leu |
M0081198 |
EJCIFCLI_00004 |
7064 |
11 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
394T>C |
Leu132Leu |
M0081199 |
EJCIFCLI_00004 |
7067 |
11 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
391A>G |
Thr131Ala |
M0081200 |
EJCIFCLI_00004 |
7068 |
11 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
390C>T |
Asp130Asp |
M0081201 |
EJCIFCLI_00004 |
7078 |
10 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
380G>A |
Gly127Glu |
M0081202 |
EJCIFCLI_00004 |
7312 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
146A>G |
Asn49Ser |
M0081203 |
EJCIFCLI_00005 |
7725 |
11 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1062C>T |
Asp354Asp |
M0081204 |
EJCIFCLI_00005 |
7755 |
12 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1032A>G |
Gly344Gly |
M0081205 |
EJCIFCLI_00005 |
7785 |
13 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1002C>T |
Asp334Asp |
M0081206 |
EJCIFCLI_00005 |
7809 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
978G>A |
Val326Val |
M0081207 |
EJCIFCLI_00005 |
7875 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
912G>C |
Leu304Leu |
M0081208 |
EJCIFCLI_00005 |
7953 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
834A>G |
Glu278Glu |
M0081209 |
EJCIFCLI_00005 |
8429 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
358A>G |
Ile120Val |
M0081210 |
EJCIFCLI_00005 |
8441 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
346G>A |
Gly116Ser |
M0081211 |
EJCIFCLI_00005 |
8444 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
343G>A |
Asp115Asn |
M0081212 |
EJCIFCLI_00005 |
8447 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
340C>T |
Leu114Leu |
M0081213 |
EJCIFCLI_00005 |
8532 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
255G>A |
Pro85Pro |
M0081214 |
EJCIFCLI_00005 |
8537 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
250C>T |
Leu84Leu |
M0081215 |
EJCIFCLI_00005 |
8539 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
248A>G |
Glu83Gly |
M0081216 |
EJCIFCLI_00005 |
8562 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
225C>T |
Ser75Ser |
M0081217 |
EJCIFCLI_00005 |
8565 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
222G>A |
Arg74Arg |
M0081218 |
EJCIFCLI_00005 |
8610 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
177T>C |
Gly59Gly |
M0081219 |
EJCIFCLI_00005 |
8652 |
10 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
135G>A |
Gly45Gly |
M0081220 |
EJCIFCLI_00005 |
8670 |
14 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
117G>A |
Ala39Ala |
M0081221 |
EJCIFCLI_00005 |
8673 |
14 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
114C>T |
Asp38Asp |
M0081222 |
EJCIFCLI_00005 |
8724 |
13 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
63G>A |
Pro21Pro |
M0081223 |
EJCIFCLI_00005 |
8733 |
12 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
54C>T |
Tyr18Tyr |
M0081224 |
EJCIFCLI_00005 |
8754 |
17 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
33A>G |
Gln11Gln |
M0081225 |
EJCIFCLI_00004 |
8803 |
13 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1346T>C |
None |
M0081226 |
EJCIFCLI_00004 |
8815 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1358C>A |
None |
M0081227 |
EJCIFCLI_00003 |
243 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2734C>T |
None |
M0081228 |
EJCIFCLI_00003 |
270 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2707C>T |
None |
M0081229 |
EJCIFCLI_00003 |
276 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2701T>C |
None |
M0081230 |
EJCIFCLI_00003 |
280 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2697C>A |
None |
M0081231 |
EJCIFCLI_00003 |
282 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2695A>G |
None |
M0081232 |
EJCIFCLI_00003 |
319 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2658C>T |
None |
M0081233 |
EJCIFCLI_00003 |
426 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2551A>G |
None |
M0081234 |
EJCIFCLI_00003 |
430 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2547C>T |
None |
M0081235 |
EJCIFCLI_00003 |
436 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2541T>C |
None |
M0081236 |
EJCIFCLI_00003 |
447 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2530A>G |
None |
M0081237 |
EJCIFCLI_00003 |
494 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2483T>G |
None |
M0081238 |
EJCIFCLI_00003 |
498 |
9 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2479T>C |
None |
M0081239 |
EJCIFCLI_00003 |
581 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2396G>A |
None |
M0081240 |
EJCIFCLI_00001 |
677 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
921T>C |
Asn307Asn |
M0081241 |
EJCIFCLI_00001 |
731 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
867A>T |
Thr289Thr |
M0081242 |
EJCIFCLI_00001 |
737 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
861G>A |
Lys287Lys |
M0081243 |
EJCIFCLI_00001 |
752 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
846C>A |
Ala282Ala |
M0081244 |
EJCIFCLI_00001 |
764 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
834G>A |
Arg278Arg |
M0081245 |
EJCIFCLI_00001 |
773 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
825G>A |
Glu275Glu |
M0081246 |
EJCIFCLI_00001 |
815 |
10 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
783T>C |
Gly261Gly |
M0081247 |
EJCIFCLI_00001 |
914 |
10 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
684A>G |
Pro228Pro |
M0081248 |
EJCIFCLI_00001 |
936 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
662T>C |
Val221Ala |
M0081249 |
EJCIFCLI_00001 |
1084 |
9 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
514A>G |
Thr172Ala |
M0081250 |
EJCIFCLI_00001 |
1091 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
507G>T |
Ala169Ala |
M0081251 |
EJCIFCLI_00001 |
1100 |
10 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
498C>T |
Asp166Asp |
M0081252 |
EJCIFCLI_00001 |
1113 |
8 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
485A>G |
Asp162Gly |
M0081253 |
EJCIFCLI_00001 |
1169 |
9 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
429G>A |
Leu143Leu |
M0081254 |
EJCIFCLI_00001 |
1178 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
420C>T |
Ser140Ser |
M0081255 |
EJCIFCLI_00001 |
1181 |
9 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
417T>C |
Tyr139Tyr |
M0081256 |
EJCIFCLI_00001 |
1184 |
9 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
414A>C |
Gly138Gly |
M0081257 |
EJCIFCLI_00001 |
1201 |
8 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
397G>A |
Val133Met |
M0081258 |
EJCIFCLI_00001 |
1235 |
9 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
363C>T |
Asp121Asp |
M0081259 |
EJCIFCLI_00001 |
1240 |
8 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
358G>A |
Val120Ile |
M0081260 |
EJCIFCLI_00001 |
1268 |
7 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
330C>T |
Thr110Thr |
M0081261 |
EJCIFCLI_00001 |
1334 |
7 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
264G>A |
Val88Val |
M0081262 |
EJCIFCLI_00001 |
1357 |
9 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
241A>G |
Ile81Val |
M0081263 |
EJCIFCLI_00001 |
1361 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
237G>A |
Glu79Glu |
M0081264 |
EJCIFCLI_00001 |
1366 |
8 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
232A>G |
Lys78Glu |
M0081265 |
EJCIFCLI_00001 |
1388 |
9 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
210C>T |
Asp70Asp |
M0081266 |
EJCIFCLI_00001 |
1436 |
10 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
162C>T |
Gly54Gly |
M0081267 |
EJCIFCLI_00001 |
1514 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
84C>T |
Gly28Gly |
M0081268 |
EJCIFCLI_00001 |
1517 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
81A>G |
Gln27Gln |
M0081269 |
EJCIFCLI_00001 |
1518 |
9 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
80A>G |
Gln27Arg |
M0081270 |
EJCIFCLI_00001 |
1532 |
7 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Pro22Pro |
M0081271 |
EJCIFCLI_00001 |
1562 |
7 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
36G>A |
Gln12Gln |
M0081272 |
EJCIFCLI_00001 |
1590 |
10 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
8C>A |
Pro3His |
M0081273 |
EJCIFCLI_00001 |
1611 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-14G>A |
None |
M0081274 |
EJCIFCLI_00001 |
1624 |
9 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-27T>C |
None |
M0081275 |
EJCIFCLI_00001 |
1629 |
9 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-32A>G |
None |
M0081276 |
EJCIFCLI_00001 |
1640 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-43C>T |
None |
M0081277 |
EJCIFCLI_00001 |
1641 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-44C>T |
None |
M0081278 |
EJCIFCLI_00001 |
1644 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-47C>T |
None |
M0081279 |
EJCIFCLI_00001 |
1790 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-193A>G |
None |
M0081280 |
EJCIFCLI_00001 |
1824 |
12 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-227A>G |
None |
M0081281 |
EJCIFCLI_00001 |
1833 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-236C>T |
None |
M0081282 |
EJCIFCLI_00002 |
1853 |
11 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1079A>G |
Asp360Gly |
M0081283 |
EJCIFCLI_00002 |
1869 |
11 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1063A>G |
Thr355Ala |
M0081284 |
EJCIFCLI_00002 |
1875 |
11 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1057A>G |
Thr353Ala |
M0081285 |
EJCIFCLI_00002 |
1889 |
11 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1043T>A |
Leu348His |
M0081286 |
EJCIFCLI_00002 |
1890 |
11 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1042C>T |
Leu348Phe |
M0081287 |
EJCIFCLI_00002 |
1891 |
11 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1041T>C |
Arg347Arg |
M0081288 |
EJCIFCLI_00002 |
1900 |
11 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1032A>G |
Glu344Glu |
M0081289 |
EJCIFCLI_00002 |
1996 |
7 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
936A>G |
Glu312Glu |
M0081290 |
EJCIFCLI_00002 |
1999 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
933G>A |
Leu311Leu |
M0081291 |
EJCIFCLI_00002 |
2005 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
927G>A |
Glu309Glu |
M0081292 |
EJCIFCLI_00002 |
2071 |
14 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
861G>A |
Glu287Glu |
M0081293 |
EJCIFCLI_00002 |
2161 |
14 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
771G>C |
Gly257Gly |
M0081294 |
EJCIFCLI_00002 |
2164 |
14 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
768A>G |
Glu256Glu |
M0081295 |
EJCIFCLI_00002 |
2325 |
14 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
607A>G |
Thr203Ala |
M0081296 |
EJCIFCLI_00002 |
2367 |
13 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
565A>G |
Thr189Ala |
M0081297 |
EJCIFCLI_00002 |
2374 |
13 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
558A>G |
Pro186Pro |
M0081298 |
EJCIFCLI_00002 |
2391 |
14 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
541A>C |
Ile181Leu |
M0081299 |
EJCIFCLI_00002 |
2406 |
7 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
526C>T |
Arg176Trp |
M0081300 |
EJCIFCLI_00002 |
2435 |
14 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
497G>A |
Gly166Asp |
M0081301 |
EJCIFCLI_00002 |
2469 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
463A>G |
Asn155Asp |
M0081302 |
EJCIFCLI_00002 |
2488 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
444G>A |
Arg148Arg |
M0081303 |
EJCIFCLI_00002 |
2503 |
11 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
429A>G |
Ala143Ala |
M0081304 |
EJCIFCLI_00002 |
2506 |
11 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
426T>C |
Gly142Gly |
M0081305 |
EJCIFCLI_00002 |
2515 |
11 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
417C>T |
Gly139Gly |
M0081306 |
EJCIFCLI_00002 |
2523 |
11 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
409T>C |
Phe137Leu |
M0081307 |
EJCIFCLI_00002 |
2800 |
16 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
132C>T |
Gly44Gly |
M0081308 |
EJCIFCLI_00003 |
3219 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
243G>A |
Leu81Leu |
M0081309 |
EJCIFCLI_00003 |
3570 |
13 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
594G>A |
Gly198Gly |
M0081310 |
EJCIFCLI_00003 |
3672 |
11 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
696C>T |
Val232Val |
M0081311 |
EJCIFCLI_00003 |
4236 |
18 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1260T>G |
Gly420Gly |
M0081312 |
EJCIFCLI_00003 |
4335 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1359A>G |
Arg453Arg |
M0081313 |
EJCIFCLI_00001 |
4377 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2780G>T |
None |
M0081314 |
EJCIFCLI_00001 |
4378 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2781G>A |
None |
M0081315 |
EJCIFCLI_00001 |
4389 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2792C>A |
None |
M0081316 |
EJCIFCLI_00001 |
4424 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2827C>G |
None |
M0081317 |
EJCIFCLI_00001 |
4427 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2830G>A |
None |
M0081318 |
EJCIFCLI_00001 |
4452 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2855T>C |
None |
M0081319 |
EJCIFCLI_00001 |
4454 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2857A>G |
None |
M0081320 |
EJCIFCLI_00001 |
4457 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2860A>G |
None |
M0081321 |
EJCIFCLI_00001 |
4492 |
11 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2895C>A |
None |
M0081322 |
EJCIFCLI_00001 |
4497 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2900T>C |
None |
M0081323 |
EJCIFCLI_00001 |
4504 |
13 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2907T>C |
None |
M0081324 |
EJCIFCLI_00001 |
4518 |
13 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2921A>G |
None |
M0081325 |
EJCIFCLI_00001 |
4656 |
14 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3059C>T |
None |
M0081326 |
EJCIFCLI_00001 |
4684 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3087A>T |
None |
M0081327 |
EJCIFCLI_00004 |
4695 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
2763A>G |
Arg921Arg |
M0081328 |
EJCIFCLI_00004 |
4701 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
2757A>G |
Pro919Pro |
M0081329 |
EJCIFCLI_00004 |
4845 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
2613T>C |
Tyr871Tyr |
M0081330 |
EJCIFCLI_00004 |
4875 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2583G>A |
Val861Val |
M0081331 |
EJCIFCLI_00004 |
5157 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
2301A>G |
Gln767Gln |
M0081332 |
EJCIFCLI_00004 |
5259 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
2199A>G |
Arg733Arg |
M0081333 |
EJCIFCLI_00004 |
5283 |
7 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2175G>A |
Lys725Lys |
M0081334 |
EJCIFCLI_00004 |
5288 |
15 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
2170C>G |
Gln724Glu |
M0081335 |
EJCIFCLI_00004 |
5313 |
16 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
2145C>G |
Leu715Leu |
M0081336 |
EJCIFCLI_00004 |
5370 |
14 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
2088C>T |
Leu696Leu |
M0081337 |
EJCIFCLI_00004 |
5680 |
9 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1778A>C |
Tyr593Ser |
M0081338 |
EJCIFCLI_00004 |
5742 |
13 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1716C>T |
Gly572Gly |
M0081339 |
EJCIFCLI_00004 |
5754 |
13 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1704G>A |
Gly568Gly |
M0081340 |
EJCIFCLI_00004 |
5757 |
13 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1701C>T |
Ser567Ser |
M0081341 |
EJCIFCLI_00004 |
5759 |
9 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1699A>G |
Ser567Gly |
M0081342 |
EJCIFCLI_00004 |
5764 |
13 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1694A>C |
Asn565Thr |
M0081343 |
EJCIFCLI_00004 |
5768 |
13 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1690G>A |
Ala564Thr |
M0081344 |
EJCIFCLI_00004 |
5791 |
9 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1667G>A |
Ser556Asn |
M0081345 |
EJCIFCLI_00004 |
5843 |
9 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1615G>A |
Gly539Ser |
M0081346 |
EJCIFCLI_00004 |
5880 |
13 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1578G>A |
Glu526Glu |
M0081347 |
EJCIFCLI_00004 |
5882 |
13 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1576G>A |
Glu526Lys |
M0081348 |
EJCIFCLI_00004 |
5949 |
13 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1509A>G |
Glu503Glu |
M0081349 |
EJCIFCLI_00004 |
6011 |
9 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1447C>T |
Leu483Leu |
M0081350 |
EJCIFCLI_00004 |
6013 |
14 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
1445A>G |
Gln482Arg |
M0081351 |
EJCIFCLI_00004 |
6730 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
728T>C |
Ile243Thr |
M0081352 |
EJCIFCLI_00004 |
6867 |
9 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
591C>T |
Arg197Arg |
M0081353 |
EJCIFCLI_00002 |
7578 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4647C>T |
None |
M0081354 |
EJCIFCLI_00002 |
7625 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4694A>G |
None |
M0081355 |
EJCIFCLI_00004 |
8869 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1412T>C |
None |
M0081356 |
EJCIFCLI_00004 |
8887 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1430C>T |
None |
M0081357 |
EJCIFCLI_00004 |
8899 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1442T>C |
None |
M0081358 |
EJCIFCLI_00004 |
6645 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
813G>A |
Gln271Gln |
M0081359 |
EJCIFCLI_00004 |
6718 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
740G>A |
Gly247Asp |
M0081360 |
EJCIFCLI_00004 |
6748 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
710A>G |
Asp237Gly |
M0081361 |
EJCIFCLI_00001 |
783 |
5 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
815C>A |
Thr272Asn |
M0081362 |
EJCIFCLI_00001 |
821 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
777T>C |
His259His |
M0081363 |
EJCIFCLI_00001 |
902 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
696G>A |
Ala232Ala |
M0081364 |
EJCIFCLI_00001 |
911 |
7 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
687A>G |
Ala229Ala |
M0081365 |
EJCIFCLI_00001 |
1740 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-143A>G |
None |
M0081366 |
EJCIFCLI_00002 |
1958 |
9 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
974T>C |
Val325Ala |
M0081367 |
EJCIFCLI_00002 |
2317 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
615G>A |
Arg205Arg |
M0081368 |
EJCIFCLI_00002 |
2782 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
150G>A |
Gly50Gly |
M0081369 |
EJCIFCLI_00003 |
3132 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
156C>T |
Val52Val |
M0081370 |
EJCIFCLI_00003 |
3600 |
11 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
624G>A |
Ala208Ala |
M0081371 |
EJCIFCLI_00003 |
3666 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
690C>T |
Arg230Arg |
M0081372 |
EJCIFCLI_00003 |
3732 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
756G>A |
Pro252Pro |
M0081373 |
EJCIFCLI_00004 |
5459 |
5 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1999A>G |
Ser667Gly |
M0081374 |
EJCIFCLI_00004 |
5478 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1980C>T |
His660His |
M0081375 |
EJCIFCLI_00004 |
5520 |
12 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1938C>T |
Ile646Ile |
M0081376 |
EJCIFCLI_00004 |
5568 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1890C>T |
Arg630Arg |
M0081377 |
EJCIFCLI_00004 |
5600 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1858C>T |
Leu620Leu |
M0081378 |
EJCIFCLI_00004 |
5622 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1836A>G |
Thr612Thr |
M0081379 |
EJCIFCLI_00004 |
6089 |
9 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1369G>T |
Ala457Ser |
M0081380 |
EJCIFCLI_00004 |
6707 |
16 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
751G>A |
Glu251Lys |
M0081381 |
EJCIFCLI_00006 |
9606 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
441T>C |
Gly147Gly |
M0081382 |
EJCIFCLI_00006 |
10065 |
7 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
900A>G |
Ser300Ser |
M0081383 |
EJCIFCLI_00006 |
10068 |
7 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
903C>T |
Ser301Ser |
M0081384 |
EJCIFCLI_00006 |
10086 |
7 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
921T>C |
Tyr307Tyr |
M0081385 |
EJCIFCLI_00006 |
10125 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
960T>C |
Gly320Gly |
M0081386 |
EJCIFCLI_00006 |
10146 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
981T>G |
Thr327Thr |
M0081387 |
EJCIFCLI_00006 |
10149 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
984C>A |
Ala328Ala |
M0081388 |
EJCIFCLI_00006 |
10198 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1033A>G |
Ile345Val |
M0081389 |
EJCIFCLI_00006 |
10208 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1043T>C |
Val348Ala |
M0081390 |
EJCIFCLI_00006 |
10212 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1047G>T |
Ser349Ser |
M0081391 |
EJCIFCLI_00006 |
10315 |
7 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1150C>T |
Leu384Phe |
M0081392 |
EJCIFCLI_00006 |
10393 |
7 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1228A>G |
Ile410Val |
M0081393 |
EJCIFCLI_00006 |
10415 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1250C>G |
Ala417Gly |
M0081394 |
EJCIFCLI_00004 |
5025 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2433G>A |
Ser811Ser |
M0081395 |
EJCIFCLI_00004 |
7163 |
5 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
295G>A |
Val99Ile |
M0081396 |
EJCIFCLI_00004 |
7299 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
159A>G |
Lys53Lys |
M0081397 |
EJCIFCLI_00004 |
7329 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
129C>T |
Ala43Ala |
M0081398 |
EJCIFCLI_00004 |
8909 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1452G>A |
None |
M0081399 |
EJCIFCLI_00004 |
8913 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1456G>A |
None |
M0081400 |
EJCIFCLI_00004 |
6977 |
17 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
481G>A |
Ala161Thr |
M0081401 |
EJCIFCLI_00004 |
7140 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
318G>A |
Pro106Pro |
M0081402 |
EJCIFCLI_00004 |
7332 |
9 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
126G>A |
Glu42Glu |
M0081403 |
EJCIFCLI_00005 |
8360 |
11 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
427C>T |
Leu143Leu |
M0081404 |
EJCIFCLI_00006 |
9540 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
375A>G |
Pro125Pro |
M0081405 |
EJCIFCLI_00006 |
10462 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1297T>C |
Leu433Leu |
M0081406 |
EJCIFCLI_00006 |
10476 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1311C>G |
Ala437Ala |
M0081407 |
EJCIFCLI_00006 |
10525 |
5 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1360G>T |
Ala454Ser |
M0081408 |
EJCIFCLI_00006 |
10528 |
5 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1363A>G |
Met455Val |
M0081409 |
EJCIFCLI_00006 |
10529 |
5 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1364T>C |
Met455Thr |
M0081410 |
EJCIFCLI_00006 |
10546 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1381G>T |
Ala461Ser |
M0081411 |
EJCIFCLI_00006 |
10565 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1400C>A |
Ala467Glu |
M0081412 |
EJCIFCLI_00004 |
6876 |
15 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
582C>T |
Ile194Ile |
M0081413 |
EJCIFCLI_00005 |
8061 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
726C>T |
Thr242Thr |
M0081414 |
EJCIFCLI_00001 |
4521 |
7 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2924T>C |
None |
M0081415 |
EJCIFCLI_00001 |
4614 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3017T>C |
None |
M0081416 |
EJCIFCLI_00001 |
4662 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3065G>A |
None |
M0081417 |
EJCIFCLI_00001 |
4668 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3071A>G |
None |
M0081418 |
EJCIFCLI_00001 |
1835 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-238C>T |
None |
M0081419 |
EJCIFCLI_00002 |
2083 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
849C>G |
Ser283Ser |
M0081420 |
EJCIFCLI_00002 |
2218 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
714C>A |
Ala238Ala |
M0081421 |
EJCIFCLI_00002 |
2231 |
5 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
701G>A |
Cys234Tyr |
M0081422 |
EJCIFCLI_00002 |
2233 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
699C>A |
Ala233Ala |
M0081423 |
EJCIFCLI_00002 |
2235 |
5 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
697G>A |
Ala233Thr |
M0081424 |
EJCIFCLI_00002 |
2236 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
696A>T |
Ala232Ala |
M0081425 |
EJCIFCLI_00002 |
2323 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
609G>T |
Thr203Thr |
M0081426 |
EJCIFCLI_00002 |
2347 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
585C>T |
Arg195Arg |
M0081427 |
EJCIFCLI_00002 |
2350 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
582A>G |
Glu194Glu |
M0081428 |
EJCIFCLI_00002 |
2361 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
571A>G |
Thr191Ala |
M0081429 |
EJCIFCLI_00002 |
2366 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
566C>A |
Thr189Asn |
M0081430 |
EJCIFCLI_00002 |
2368 |
6 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
564C>T |
Pro188Pro |
M0081431 |
EJCIFCLI_00002 |
2444 |
5 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
488A>G |
Glu163Gly |
M0081432 |
EJCIFCLI_00002 |
2452 |
9 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
480G>A |
Leu160Leu |
M0081433 |
EJCIFCLI_00002 |
2453 |
9 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
479T>C |
Leu160Pro |
M0081434 |
EJCIFCLI_00002 |
2514 |
5 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
418C>T |
Arg140Cys |
M0081435 |
EJCIFCLI_00003 |
3625 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
649T>C |
Leu217Leu |
M0081436 |
EJCIFCLI_00001 |
4508 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2911G>A |
None |
M0081437 |
EJCIFCLI_00001 |
4515 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2918C>T |
None |
M0081438 |
EJCIFCLI_00001 |
4517 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2920G>A |
None |
M0081439 |
EJCIFCLI_00001 |
4622 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3025T>C |
None |
M0081440 |
EJCIFCLI_00001 |
4624 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3027G>T |
None |
M0081441 |
EJCIFCLI_00004 |
5447 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
2011A>G |
Ile671Val |
M0081442 |
EJCIFCLI_00004 |
5964 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1494T>C |
Ala498Ala |
M0081443 |
EJCIFCLI_00004 |
6067 |
8 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1391C>T |
Thr464Ile |
M0081444 |
EJCIFCLI_00004 |
6087 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1371G>A |
Ala457Ala |
M0081445 |
EJCIFCLI_00004 |
6461 |
6 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
997G>A |
Val333Ile |
M0081446 |
EJCIFCLI_00003 |
375 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2602A>T |
None |
M0081447 |
EJCIFCLI_00003 |
377 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2600T>C |
None |
M0081448 |
EJCIFCLI_00003 |
407 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2570G>C |
None |
M0081449 |
EJCIFCLI_00001 |
767 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
831T>C |
Ala277Ala |
M0081450 |
EJCIFCLI_00001 |
880 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
718C>T |
Arg240Cys |
M0081451 |
EJCIFCLI_00001 |
947 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
651T>C |
His217His |
M0081452 |
EJCIFCLI_00001 |
948 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
650A>G |
His217Arg |
M0081453 |
EJCIFCLI_00001 |
950 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
648A>G |
Leu216Leu |
M0081454 |
EJCIFCLI_00001 |
952 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
646C>T |
Leu216Leu |
M0081455 |
EJCIFCLI_00001 |
953 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
645A>G |
Arg215Arg |
M0081456 |
EJCIFCLI_00001 |
955 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
643C>A |
Arg215Arg |
M0081457 |
EJCIFCLI_00002 |
2346 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
586G>A |
Ala196Thr |
M0081458 |
EJCIFCLI_00002 |
2426 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
506G>A |
Ser169Asn |
M0081459 |
EJCIFCLI_00002 |
2431 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
501G>C |
Gln167His |
M0081460 |
EJCIFCLI_00004 |
6354 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1104C>T |
His368His |
M0081461 |
EJCIFCLI_00005 |
7962 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
825C>T |
Ala275Ala |
M0081462 |
EJCIFCLI_00002 |
1879 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1053A>G |
Gly351Gly |
M0081463 |
EJCIFCLI_00002 |
7540 |
6 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4609A>C |
None |
M0081464 |
EJCIFCLI_00002 |
7602 |
5 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4671C>T |
None |
M0081465 |
EJCIFCLI_00006 |
9268 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
103C>T |
Leu35Leu |
M0081466 |
EJCIFCLI_00004 |
6939 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
519C>T |
His173His |
M0081467 |
EJCIFCLI_00004 |
7052 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
406C>T |
Leu136Leu |
M0081468 |
EJCIFCLI_00005 |
8110 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
677C>T |
Pro226Leu |
M0081469 |
EJCIFCLI_00002 |
2707 |
7 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
225T>C |
Ser75Ser |
M0081470 |
EJCIFCLI_00003 |
4297 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1321T>C |
Leu441Leu |
M0081471 |
EJCIFCLI_00003 |
3007 |
7 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
31A>G |
Thr11Ala |
M0081472 |
EJCIFCLI_00003 |
3297 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
321C>T |
Asp107Asp |
M0081473 |
EJCIFCLI_00002 |
2661 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
271C>T |
Leu91Phe |
M0081474 |
EJCIFCLI_00003 |
3205 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
229C>T |
Leu77Leu |
M0081475 |
EJCIFCLI_00006 |
10224 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1059C>T |
Thr353Thr |
M0081476 |
EJCIFCLI_00006 |
10482 |
5 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1317C>T |
Thr439Thr |
M0081477 |
EJCIFCLI_00004 |
10715 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3258A>G |
None |
M0081478 |
EJCIFCLI_00004 |
10744 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3287A>G |
None |
M0081479 |
EJCIFCLI_00007 |
11037 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1582G>A |
Gly528Ser |
M0081480 |
EJCIFCLI_00007 |
11260 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1359C>T |
Cys453Cys |
M0081481 |
EJCIFCLI_00007 |
11383 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1236T>C |
Gly412Gly |
M0081482 |
EJCIFCLI_00007 |
11619 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1000T>A |
Ser334Thr |
M0081483 |
EJCIFCLI_00007 |
12004 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
615C>T |
Arg205Arg |
M0081484 |
EJCIFCLI_00007 |
12007 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
612G>A |
Gly204Gly |
M0081485 |
EJCIFCLI_00007 |
12013 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
606C>T |
Ser202Ser |
M0081486 |
EJCIFCLI_00007 |
12016 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
603T>C |
Gly201Gly |
M0081487 |
EJCIFCLI_00007 |
12550 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
69C>T |
Asp23Asp |
M0081488 |
EJCIFCLI_00007 |
12568 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
51G>A |
Pro17Pro |
M0081489 |
EJCIFCLI_00004 |
7014 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
444G>A |
Thr148Thr |
Analysis of virulence factors contributing to bacterial pathogenicity
This table presents virulence factors identified within the plasmid cluster.
Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.
Gene Name |
vf_gene_id |
vf_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
vf_category |
gene_description |
condition |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
Gene Name |
cazy_id |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |