Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C3256 |
Reference Plasmid |
MET0660_bin.2__k81_1957 |
Reference Plasmid Size |
67669 |
Reference Plasmid GC Content |
0.38 |
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 |
M0082142 |
EGFFHDJI_00006 |
11655 |
6 |
Skin |
0.32 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4493A>G |
None |
M0082143 |
EGFFHDJI_00016 |
18782 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
244G>A |
Asp82Asn |
M0082144 |
EGFFHDJI_00017 |
19126 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
2475T>C |
Gly825Gly |
M0082145 |
EGFFHDJI_00016 |
22056 |
6 |
Skin |
0.32 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3031A>C |
None |
M0082146 |
EGFFHDJI_00016 |
22118 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3093C>A |
None |
M0082147 |
EGFFHDJI_00018 |
23036 |
6 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
852C>T |
Ile284Ile |
M0082148 |
EGFFHDJI_00018 |
23333 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1149T>C |
Ile383Ile |
M0082149 |
EGFFHDJI_00019 |
23486 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
106C>A |
Leu36Ile |
M0082150 |
EGFFHDJI_00019 |
23503 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
123T>C |
Leu41Leu |
M0082151 |
EGFFHDJI_00019 |
23563 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
183G>A |
Leu61Leu |
M0082152 |
EGFFHDJI_00019 |
23602 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
222G>A |
Thr74Thr |
M0082153 |
EGFFHDJI_00019 |
23608 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
228T>C |
Leu76Leu |
M0082154 |
EGFFHDJI_00019 |
23618 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
238A>C |
Ile80Leu |
M0082155 |
EGFFHDJI_00019 |
23632 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
252G>A |
Val84Val |
M0082156 |
EGFFHDJI_00019 |
23644 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
264G>T |
Thr88Thr |
M0082157 |
EGFFHDJI_00019 |
23654 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
274A>G |
Ile92Val |
M0082158 |
EGFFHDJI_00020 |
23701 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
10G>A |
Val4Ile |
M0082159 |
EGFFHDJI_00020 |
23730 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
39C>T |
Thr13Thr |
M0082160 |
EGFFHDJI_00020 |
23790 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
99A>C |
Thr33Thr |
M0082161 |
EGFFHDJI_00020 |
23792 |
7 |
Skin |
0.37 |
protein_coding |
missense_variant |
MODERATE |
101T>C |
Phe34Ser |
M0082162 |
EGFFHDJI_00020 |
23904 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Asn71Asn |
M0082163 |
EGFFHDJI_00020 |
23916 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
225G>A |
Val75Val |
M0082164 |
EGFFHDJI_00020 |
23958 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
267C>T |
Ala89Ala |
M0082165 |
EGFFHDJI_00020 |
24153 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
462C>T |
Phe154Phe |
M0082166 |
EGFFHDJI_00020 |
24171 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
480T>C |
Leu160Leu |
M0082167 |
EGFFHDJI_00020 |
24180 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
489A>C |
Ala163Ala |
M0082168 |
EGFFHDJI_00020 |
24215 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
524A>G |
Asn175Ser |
M0082169 |
EGFFHDJI_00020 |
24267 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
576C>T |
Asn192Asn |
M0082170 |
EGFFHDJI_00020 |
24268 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
577T>A |
Leu193Met |
M0082171 |
EGFFHDJI_00020 |
24273 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
582G>A |
Thr194Thr |
M0082172 |
EGFFHDJI_00020 |
24324 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
633C>T |
Phe211Phe |
M0082173 |
EGFFHDJI_00020 |
24327 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
636A>G |
Leu212Leu |
M0082174 |
EGFFHDJI_00020 |
24331 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
640G>A |
Glu214Lys |
M0082175 |
EGFFHDJI_00020 |
24351 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
660T>C |
Asn220Asn |
M0082176 |
EGFFHDJI_00020 |
24363 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
672C>T |
Ala224Ala |
M0082177 |
EGFFHDJI_00020 |
24369 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
678G>A |
Pro226Pro |
M0082178 |
EGFFHDJI_00020 |
24389 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
698G>A |
Arg233His |
M0082179 |
EGFFHDJI_00020 |
24459 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
768G>A |
Pro256Pro |
M0082180 |
EGFFHDJI_00020 |
24474 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
783C>T |
Tyr261Tyr |
M0082181 |
EGFFHDJI_00020 |
24502 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
811G>A |
Asp271Asn |
M0082182 |
EGFFHDJI_00021 |
24567 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
22C>T |
Leu8Leu |
M0082183 |
EGFFHDJI_00021 |
24587 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
42C>T |
Phe14Phe |
M0082184 |
EGFFHDJI_00047 |
53510 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1017T>C |
Gly339Gly |
M0082185 |
EGFFHDJI_00047 |
53513 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1014T>C |
Val338Val |
M0082186 |
EGFFHDJI_00047 |
53519 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1008C>T |
Ala336Ala |
M0082187 |
EGFFHDJI_00047 |
53612 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
915C>T |
Ile305Ile |
M0082188 |
EGFFHDJI_00047 |
53693 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
834G>A |
Gln278Gln |
M0082189 |
EGFFHDJI_00047 |
53765 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
762A>G |
Leu254Leu |
M0082190 |
EGFFHDJI_00047 |
53786 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
741T>C |
Val247Val |
M0082191 |
EGFFHDJI_00047 |
53804 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
723C>T |
Ser241Ser |
M0082192 |
EGFFHDJI_00047 |
53840 |
5 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
687T>A |
Gly229Gly |
M0082193 |
EGFFHDJI_00047 |
53843 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
684T>C |
Ser228Ser |
M0082194 |
EGFFHDJI_00047 |
53846 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
681A>G |
Pro227Pro |
M0082195 |
EGFFHDJI_00047 |
53853 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
674C>A |
Thr225Lys |
M0082196 |
EGFFHDJI_00047 |
53873 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
654A>G |
Thr218Thr |
M0082197 |
EGFFHDJI_00047 |
53995 |
5 |
Skin |
0.26 |
protein_coding |
missense_variant |
MODERATE |
532A>G |
Ile178Val |
M0082198 |
EGFFHDJI_00047 |
54062 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
465T>A |
Leu155Leu |
M0082199 |
EGFFHDJI_00047 |
54085 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
442T>C |
Leu148Leu |
M0082200 |
EGFFHDJI_00047 |
54092 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
435C>T |
Ser145Ser |
M0082201 |
EGFFHDJI_00047 |
54164 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
363C>A |
Thr121Thr |
M0082202 |
EGFFHDJI_00001 |
3188 |
6 |
Skin |
0.32 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1994T>G |
None |
M0082203 |
EGFFHDJI_00013 |
14169 |
5 |
Skin |
0.26 |
protein_coding |
missense_variant |
MODERATE |
391G>A |
Val131Ile |
M0082204 |
EGFFHDJI_00013 |
14399 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
161A>C |
Lys54Thr |
M0082205 |
EGFFHDJI_00008 |
14665 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4788G>A |
None |
M0082206 |
EGFFHDJI_00016 |
17254 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1772T>C |
Leu591Pro |
M0082207 |
EGFFHDJI_00021 |
24623 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
78A>G |
Thr26Thr |
M0082208 |
EGFFHDJI_00021 |
24639 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
94G>A |
Val32Met |
M0082209 |
EGFFHDJI_00021 |
24647 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
102C>T |
Asp34Asp |
M0082210 |
EGFFHDJI_00021 |
24653 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
108G>A |
Glu36Glu |
M0082211 |
EGFFHDJI_00021 |
24657 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
112T>G |
Ser38Ala |
M0082212 |
EGFFHDJI_00021 |
24732 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
187T>C |
Leu63Leu |
M0082213 |
EGFFHDJI_00021 |
24794 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
249T>C |
Tyr83Tyr |
M0082214 |
EGFFHDJI_00021 |
24802 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
257G>C |
Cys86Ser |
M0082215 |
EGFFHDJI_00021 |
24805 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
260C>T |
Pro87Leu |
M0082216 |
EGFFHDJI_00021 |
24821 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
276G>A |
Gly92Gly |
M0082217 |
EGFFHDJI_00021 |
24833 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
288G>C |
Ala96Ala |
M0082218 |
EGFFHDJI_00021 |
24845 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
300T>C |
His100His |
M0082219 |
EGFFHDJI_00021 |
24917 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
372C>T |
Phe124Phe |
M0082220 |
EGFFHDJI_00021 |
24988 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
443G>A |
Ser148Asn |
M0082221 |
EGFFHDJI_00021 |
24995 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
450C>G |
Thr150Thr |
M0082222 |
EGFFHDJI_00021 |
25016 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
471C>A |
Ile157Ile |
M0082223 |
EGFFHDJI_00021 |
25028 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
483C>T |
Ser161Ser |
M0082224 |
EGFFHDJI_00021 |
25037 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
492C>T |
His164His |
M0082225 |
EGFFHDJI_00021 |
25073 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
528T>C |
Phe176Phe |
M0082226 |
EGFFHDJI_00021 |
25142 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
597A>T |
Gly199Gly |
M0082227 |
EGFFHDJI_00021 |
25151 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
606T>C |
Gly202Gly |
M0082228 |
EGFFHDJI_00021 |
25202 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
657G>A |
Val219Val |
M0082229 |
EGFFHDJI_00021 |
25205 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
660G>A |
Leu220Leu |
M0082230 |
EGFFHDJI_00021 |
25214 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
669A>G |
Ala223Ala |
M0082231 |
EGFFHDJI_00021 |
25217 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
672C>A |
Ile224Ile |
M0082232 |
EGFFHDJI_00021 |
25277 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
732C>T |
Phe244Phe |
M0082233 |
EGFFHDJI_00021 |
25295 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
750C>T |
Cys250Cys |
M0082234 |
EGFFHDJI_00021 |
25361 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
816A>G |
Ser272Ser |
M0082235 |
EGFFHDJI_00021 |
25415 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
870G>A |
Met290Ile |
M0082236 |
EGFFHDJI_00021 |
25445 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
900G>A |
Ala300Ala |
M0082237 |
EGFFHDJI_00021 |
25451 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
906T>C |
Phe302Phe |
M0082238 |
EGFFHDJI_00021 |
25469 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
924G>T |
Val308Val |
M0082239 |
EGFFHDJI_00021 |
25475 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
930G>A |
Leu310Leu |
M0082240 |
EGFFHDJI_00021 |
25508 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
963T>C |
Cys321Cys |
M0082241 |
EGFFHDJI_00021 |
25550 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1005T>C |
Arg335Arg |
M0082242 |
EGFFHDJI_00021 |
25598 |
3 |
Skin |
0.16 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
1053A>T |
Ter351Cysext*? |
M0082243 |
EGFFHDJI_00017 |
25633 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4033A>G |
None |
M0082244 |
EGFFHDJI_00017 |
25637 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4037A>C |
None |
M0082245 |
EGFFHDJI_00022 |
25639 |
3 |
Skin |
0.16 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
699A>G |
Ter233Ter |
M0082246 |
EGFFHDJI_00022 |
25659 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
679A>C |
Lys227Gln |
M0082247 |
EGFFHDJI_00022 |
25717 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
621G>A |
Leu207Leu |
M0082248 |
EGFFHDJI_00022 |
25744 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
594C>T |
Val198Val |
M0082249 |
EGFFHDJI_00022 |
25756 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
582G>A |
Val194Val |
M0082250 |
EGFFHDJI_00022 |
25777 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
561T>C |
His187His |
M0082251 |
EGFFHDJI_00022 |
25783 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
555C>T |
Tyr185Tyr |
M0082252 |
EGFFHDJI_00022 |
25789 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
549G>A |
Arg183Arg |
M0082253 |
EGFFHDJI_00022 |
25854 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
484T>C |
Ser162Pro |
M0082254 |
EGFFHDJI_00022 |
25912 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
426T>A |
Val142Val |
M0082255 |
EGFFHDJI_00022 |
25930 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
408T>C |
Phe136Phe |
M0082256 |
EGFFHDJI_00022 |
26003 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
335G>C |
Gly112Ala |
M0082257 |
EGFFHDJI_00022 |
26152 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
186T>A |
Leu62Leu |
M0082258 |
EGFFHDJI_00022 |
26158 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
180C>T |
Gly60Gly |
M0082259 |
EGFFHDJI_00022 |
26257 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
81T>C |
Gly27Gly |
M0082260 |
EGFFHDJI_00022 |
26269 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
69G>A |
Gly23Gly |
M0082261 |
EGFFHDJI_00022 |
26278 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
60A>G |
Thr20Thr |
M0082262 |
EGFFHDJI_00022 |
26284 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
54C>T |
Gly18Gly |
M0082263 |
EGFFHDJI_00017 |
26388 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4788T>C |
None |
M0082264 |
EGFFHDJI_00017 |
26546 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4946G>A |
None |
M0082265 |
EGFFHDJI_00023 |
26685 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
111T>C |
Asp37Asp |
M0082266 |
EGFFHDJI_00023 |
26700 |
5 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
126G>A |
Arg42Arg |
M0082267 |
EGFFHDJI_00023 |
26715 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
141G>T |
Ala47Ala |
M0082268 |
EGFFHDJI_00023 |
26719 |
5 |
Skin |
0.26 |
protein_coding |
missense_variant |
MODERATE |
145G>A |
Glu49Lys |
M0082269 |
EGFFHDJI_00023 |
26733 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
159A>G |
Glu53Glu |
M0082270 |
EGFFHDJI_00023 |
26734 |
5 |
Skin |
0.26 |
protein_coding |
missense_variant |
MODERATE |
160G>T |
Ala54Ser |
M0082271 |
EGFFHDJI_00023 |
26742 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
168A>G |
Gln56Gln |
M0082272 |
EGFFHDJI_00023 |
26840 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
266C>T |
Ala89Val |
M0082273 |
EGFFHDJI_00023 |
26853 |
7 |
Skin |
0.37 |
protein_coding |
synonymous_variant |
LOW |
279A>G |
Lys93Lys |
M0082274 |
EGFFHDJI_00023 |
26880 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
306A>T |
Pro102Pro |
M0082275 |
EGFFHDJI_00023 |
26889 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
315A>C |
Pro105Pro |
M0082276 |
EGFFHDJI_00023 |
26895 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
321T>C |
Arg107Arg |
M0082277 |
EGFFHDJI_00023 |
26901 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
327G>A |
Glu109Glu |
M0082278 |
EGFFHDJI_00023 |
26907 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
333T>A |
Val111Val |
M0082279 |
EGFFHDJI_00023 |
26938 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
364A>C |
Arg122Arg |
M0082280 |
EGFFHDJI_00023 |
26991 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
417A>T |
Ile139Ile |
M0082281 |
EGFFHDJI_00023 |
26995 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
421A>G |
Asn141Asp |
M0082282 |
EGFFHDJI_00023 |
27006 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
432G>A |
Ala144Ala |
M0082283 |
EGFFHDJI_00023 |
27021 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
447G>A |
Gly149Gly |
M0082284 |
EGFFHDJI_00023 |
27084 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
510A>G |
Val170Val |
M0082285 |
EGFFHDJI_00023 |
27141 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
567T>C |
Cys189Cys |
M0082286 |
EGFFHDJI_00023 |
27174 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
600T>C |
Asp200Asp |
M0082287 |
EGFFHDJI_00023 |
27228 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
654T>G |
Asp218Glu |
M0082288 |
EGFFHDJI_00023 |
27277 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
703A>G |
Thr235Ala |
M0082289 |
EGFFHDJI_00023 |
27278 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
704C>T |
Thr235Ile |
M0082290 |
EGFFHDJI_00023 |
27282 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
708T>C |
Asp236Asp |
M0082291 |
EGFFHDJI_00023 |
27321 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
747C>T |
Asp249Asp |
M0082292 |
EGFFHDJI_00023 |
27351 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
777C>T |
Asp259Asp |
M0082293 |
EGFFHDJI_00023 |
27417 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
843A>C |
Ser281Ser |
M0082294 |
EGFFHDJI_00023 |
27453 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
879G>A |
Met293Ile |
M0082295 |
EGFFHDJI_00023 |
27468 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
894C>T |
Gly298Gly |
M0082296 |
EGFFHDJI_00023 |
27492 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
918C>T |
Cys306Cys |
M0082297 |
EGFFHDJI_00023 |
27570 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
996T>C |
Asn332Asn |
M0082298 |
EGFFHDJI_00023 |
27595 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1021A>T |
Thr341Ser |
M0082299 |
EGFFHDJI_00023 |
27597 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1023G>A |
Thr341Thr |
M0082300 |
EGFFHDJI_00023 |
27600 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1026T>A |
Gly342Gly |
M0082301 |
EGFFHDJI_00023 |
27607 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1033G>A |
Glu345Lys |
M0082302 |
EGFFHDJI_00023 |
27639 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1065A>G |
Gly355Gly |
M0082303 |
EGFFHDJI_00023 |
27801 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1227G>T |
Val409Val |
M0082304 |
EGFFHDJI_00022 |
27863 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1526C>G |
None |
M0082305 |
EGFFHDJI_00022 |
27868 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1531C>T |
None |
M0082306 |
EGFFHDJI_00022 |
27874 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1537C>T |
None |
M0082307 |
EGFFHDJI_00022 |
27895 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1558T>C |
None |
M0082308 |
EGFFHDJI_00022 |
27933 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1596A>T |
None |
M0082309 |
EGFFHDJI_00024 |
28008 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1281A>T |
Ile427Ile |
M0082310 |
EGFFHDJI_00024 |
28023 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1266G>A |
Leu422Leu |
M0082311 |
EGFFHDJI_00024 |
28026 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1263A>G |
Leu421Leu |
M0082312 |
EGFFHDJI_00024 |
28035 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1254A>G |
Leu418Leu |
M0082313 |
EGFFHDJI_00024 |
28038 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1251A>C |
Ala417Ala |
M0082314 |
EGFFHDJI_00024 |
28041 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1248A>G |
Leu416Leu |
M0082315 |
EGFFHDJI_00024 |
28125 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1164A>G |
Gly388Gly |
M0082316 |
EGFFHDJI_00024 |
28206 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1083T>C |
Phe361Phe |
M0082317 |
EGFFHDJI_00024 |
28221 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1068C>T |
Ile356Ile |
M0082318 |
EGFFHDJI_00024 |
28275 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1014T>A |
Ala338Ala |
M0082319 |
EGFFHDJI_00024 |
28353 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
936A>G |
Leu312Leu |
M0082320 |
EGFFHDJI_00024 |
28377 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
912T>C |
Ala304Ala |
M0082321 |
EGFFHDJI_00024 |
28392 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
897A>T |
Ala299Ala |
M0082322 |
EGFFHDJI_00024 |
28400 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
889A>C |
Arg297Arg |
M0082323 |
EGFFHDJI_00024 |
28401 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
888G>A |
Val296Val |
M0082324 |
EGFFHDJI_00024 |
28452 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
837G>A |
Gly279Gly |
M0082325 |
EGFFHDJI_00024 |
28455 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
834G>A |
Ala278Ala |
M0082326 |
EGFFHDJI_00024 |
28512 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
777G>A |
Ala259Ala |
M0082327 |
EGFFHDJI_00024 |
28524 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
765A>T |
Gly255Gly |
M0082328 |
EGFFHDJI_00024 |
28527 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
762T>C |
Gly254Gly |
M0082329 |
EGFFHDJI_00024 |
28533 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
756G>A |
Val252Val |
M0082330 |
EGFFHDJI_00024 |
28551 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
738A>C |
Ala246Ala |
M0082331 |
EGFFHDJI_00024 |
28560 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
729T>C |
Phe243Phe |
M0082332 |
EGFFHDJI_00024 |
28568 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
721T>C |
Leu241Leu |
M0082333 |
EGFFHDJI_00024 |
28575 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
714G>T |
Thr238Thr |
M0082334 |
EGFFHDJI_00024 |
28578 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
711C>T |
Gly237Gly |
M0082335 |
EGFFHDJI_00024 |
28678 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
611A>G |
Asn204Ser |
M0082336 |
EGFFHDJI_00024 |
28725 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
564C>T |
Ile188Ile |
M0082337 |
EGFFHDJI_00024 |
28815 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
474G>A |
Val158Val |
M0082338 |
EGFFHDJI_00024 |
28902 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
387C>T |
Gly129Gly |
M0082339 |
EGFFHDJI_00024 |
28941 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
Ile116Ile |
M0082340 |
EGFFHDJI_00024 |
28944 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
345C>G |
Gly115Gly |
M0082341 |
EGFFHDJI_00024 |
28947 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
342A>G |
Leu114Leu |
M0082342 |
EGFFHDJI_00024 |
28970 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
319C>T |
Leu107Leu |
M0082343 |
EGFFHDJI_00024 |
28986 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
303A>C |
Ala101Ala |
M0082344 |
EGFFHDJI_00024 |
29019 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
270G>A |
Gly90Gly |
M0082345 |
EGFFHDJI_00024 |
29158 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
131A>T |
Lys44Ile |
M0082346 |
EGFFHDJI_00024 |
29178 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
111A>G |
Arg37Arg |
M0082347 |
EGFFHDJI_00024 |
29258 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
31T>C |
Leu11Leu |
M0082348 |
EGFFHDJI_00024 |
29272 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
17C>G |
Ala6Gly |
M0082349 |
EGFFHDJI_00024 |
29273 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
16G>A |
Ala6Thr |
M0082350 |
EGFFHDJI_00024 |
29279 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
10G>A |
Val4Ile |
M0082351 |
EGFFHDJI_00022 |
29352 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3015C>T |
None |
M0082352 |
EGFFHDJI_00022 |
29378 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3041G>A |
None |
M0082353 |
EGFFHDJI_00022 |
29430 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3093G>C |
None |
M0082354 |
EGFFHDJI_00022 |
29431 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3094A>T |
None |
M0082355 |
EGFFHDJI_00022 |
29438 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3101C>T |
None |
M0082356 |
EGFFHDJI_00022 |
29470 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3133A>C |
None |
M0082357 |
EGFFHDJI_00022 |
29497 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3160C>A |
None |
M0082358 |
EGFFHDJI_00022 |
29502 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3165G>T |
None |
M0082359 |
EGFFHDJI_00022 |
29508 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3171G>A |
None |
M0082360 |
EGFFHDJI_00022 |
29519 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3182A>G |
None |
M0082361 |
EGFFHDJI_00025 |
29559 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
4113G>A |
Glu1371Glu |
M0082362 |
EGFFHDJI_00025 |
29568 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
4104C>T |
His1368His |
M0082363 |
EGFFHDJI_00025 |
29570 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
4102C>G |
His1368Asp |
M0082364 |
EGFFHDJI_00025 |
29610 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
4062C>T |
Ala1354Ala |
M0082365 |
EGFFHDJI_00025 |
29640 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
4032T>C |
Ser1344Ser |
M0082366 |
EGFFHDJI_00025 |
29658 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
4014G>A |
Thr1338Thr |
M0082367 |
EGFFHDJI_00025 |
29669 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
4003T>C |
Leu1335Leu |
M0082368 |
EGFFHDJI_00025 |
29681 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
3991G>A |
Asp1331Asn |
M0082369 |
EGFFHDJI_00025 |
29685 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
3987T>C |
Ser1329Ser |
M0082370 |
EGFFHDJI_00025 |
29701 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
3971C>T |
Pro1324Leu |
M0082371 |
EGFFHDJI_00025 |
29766 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
3906T>A |
Asp1302Glu |
M0082372 |
EGFFHDJI_00025 |
29826 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
3846A>C |
Ala1282Ala |
M0082373 |
EGFFHDJI_00025 |
29831 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
3841G>C |
Glu1281Gln |
M0082374 |
EGFFHDJI_00025 |
29895 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
3777A>G |
Val1259Val |
M0082375 |
EGFFHDJI_00025 |
29913 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
3759G>A |
Gln1253Gln |
M0082376 |
EGFFHDJI_00025 |
29967 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
3705T>C |
His1235His |
M0082377 |
EGFFHDJI_00025 |
29997 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
3675C>A |
His1225Gln |
M0082378 |
EGFFHDJI_00025 |
30024 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
3648T>C |
Asp1216Asp |
M0082379 |
EGFFHDJI_00025 |
30054 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
3618T>A |
His1206Gln |
M0082380 |
EGFFHDJI_00025 |
30065 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
3607C>T |
His1203Tyr |
M0082381 |
EGFFHDJI_00025 |
30114 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
3558T>C |
Asp1186Asp |
M0082382 |
EGFFHDJI_00025 |
30182 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
3490A>G |
Ile1164Val |
M0082383 |
EGFFHDJI_00025 |
30292 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
3380A>G |
Asn1127Ser |
M0082384 |
EGFFHDJI_00025 |
30345 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
3327T>G |
Ala1109Ala |
M0082385 |
EGFFHDJI_00025 |
32190 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1482C>T |
Ile494Ile |
M0082386 |
EGFFHDJI_00025 |
32312 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1360G>A |
Gly454Ser |
M0082387 |
EGFFHDJI_00025 |
32415 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1257G>A |
Thr419Thr |
M0082388 |
EGFFHDJI_00025 |
32463 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1209T>C |
Asn403Asn |
M0082389 |
EGFFHDJI_00025 |
32523 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1149G>A |
Leu383Leu |
M0082390 |
EGFFHDJI_00025 |
32528 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1144A>G |
Ser382Gly |
M0082391 |
EGFFHDJI_00025 |
32550 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1122T>C |
Leu374Leu |
M0082392 |
EGFFHDJI_00025 |
32562 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1110A>G |
Glu370Glu |
M0082393 |
EGFFHDJI_00025 |
32622 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1050A>T |
Arg350Arg |
M0082394 |
EGFFHDJI_00025 |
32625 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1047A>G |
Ala349Ala |
M0082395 |
EGFFHDJI_00025 |
32631 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1041T>C |
Ile347Ile |
M0082396 |
EGFFHDJI_00025 |
32643 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1029C>T |
Ile343Ile |
M0082397 |
EGFFHDJI_00025 |
32694 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
978T>C |
Tyr326Tyr |
M0082398 |
EGFFHDJI_00025 |
32715 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
957G>A |
Leu319Leu |
M0082399 |
EGFFHDJI_00025 |
32721 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
951G>A |
Gly317Gly |
M0082400 |
EGFFHDJI_00025 |
32784 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
888A>G |
Lys296Lys |
M0082401 |
EGFFHDJI_00025 |
32801 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
871G>A |
Val291Met |
M0082402 |
EGFFHDJI_00025 |
32904 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
768G>T |
Gly256Gly |
M0082403 |
EGFFHDJI_00025 |
32927 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
745T>C |
Leu249Leu |
M0082404 |
EGFFHDJI_00025 |
32958 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
714T>C |
Ser238Ser |
M0082405 |
EGFFHDJI_00025 |
32975 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
697C>A |
Gln233Lys |
M0082406 |
EGFFHDJI_00025 |
32982 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
690C>T |
Asn230Asn |
M0082407 |
EGFFHDJI_00025 |
32997 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
675T>C |
Asp225Asp |
M0082408 |
EGFFHDJI_00025 |
33000 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
672G>A |
Leu224Leu |
M0082409 |
EGFFHDJI_00025 |
33003 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
669C>T |
Asp223Asp |
M0082410 |
EGFFHDJI_00025 |
33012 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
660C>T |
Asn220Asn |
M0082411 |
EGFFHDJI_00025 |
33018 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
654A>G |
Leu218Leu |
M0082412 |
EGFFHDJI_00025 |
33020 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
652C>T |
Leu218Leu |
M0082413 |
EGFFHDJI_00025 |
33024 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
648C>T |
Ser216Ser |
M0082414 |
EGFFHDJI_00025 |
33063 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
609C>T |
Asn203Asn |
M0082415 |
EGFFHDJI_00025 |
33065 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
607A>G |
Asn203Asp |
M0082416 |
EGFFHDJI_00025 |
33099 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
573T>C |
Ala191Ala |
M0082417 |
EGFFHDJI_00025 |
33108 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
564C>T |
Tyr188Tyr |
M0082418 |
EGFFHDJI_00025 |
33120 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
552C>T |
Tyr184Tyr |
M0082419 |
EGFFHDJI_00025 |
33147 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
525T>C |
Phe175Phe |
M0082420 |
EGFFHDJI_00025 |
33159 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
513C>T |
Val171Val |
M0082421 |
EGFFHDJI_00025 |
33171 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
501C>T |
Gly167Gly |
M0082422 |
EGFFHDJI_00025 |
33174 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
498T>C |
Gly166Gly |
M0082423 |
EGFFHDJI_00025 |
33183 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
489T>A |
Ser163Ser |
M0082424 |
EGFFHDJI_00025 |
33201 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
471C>T |
Asp157Asp |
M0082425 |
EGFFHDJI_00025 |
33228 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
444A>G |
Thr148Thr |
M0082426 |
EGFFHDJI_00025 |
33240 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
432C>T |
Asp144Asp |
M0082427 |
EGFFHDJI_00025 |
33297 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
375C>T |
Asn125Asn |
M0082428 |
EGFFHDJI_00025 |
33306 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
366A>G |
Gly122Gly |
M0082429 |
EGFFHDJI_00025 |
33312 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
360T>C |
Asp120Asp |
M0082430 |
EGFFHDJI_00025 |
33315 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
357C>T |
Ser119Ser |
M0082431 |
EGFFHDJI_00025 |
33366 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
306G>T |
Gly102Gly |
M0082432 |
EGFFHDJI_00025 |
33397 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
275A>G |
Lys92Arg |
M0082433 |
EGFFHDJI_00025 |
33402 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
270G>T |
Ala90Ala |
M0082434 |
EGFFHDJI_00025 |
33480 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
192A>C |
Pro64Pro |
M0082435 |
EGFFHDJI_00025 |
33501 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
171A>T |
Pro57Pro |
M0082436 |
EGFFHDJI_00025 |
33509 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
163T>C |
Leu55Leu |
M0082437 |
EGFFHDJI_00025 |
33537 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
135A>G |
Val45Val |
M0082438 |
EGFFHDJI_00025 |
33576 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
96G>A |
Lys32Lys |
M0082439 |
EGFFHDJI_00025 |
33594 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
78G>A |
Ala26Ala |
M0082440 |
EGFFHDJI_00025 |
33621 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
51A>T |
Ser17Ser |
M0082441 |
EGFFHDJI_00025 |
33624 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
48C>T |
Ser16Ser |
M0082442 |
EGFFHDJI_00024 |
33684 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4396C>T |
None |
M0082443 |
EGFFHDJI_00024 |
33705 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4417A>G |
None |
M0082444 |
EGFFHDJI_00024 |
33720 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4432C>T |
None |
M0082445 |
EGFFHDJI_00026 |
33746 |
3 |
Skin |
0.16 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
964T>G |
Ter322Gluext*? |
M0082446 |
EGFFHDJI_00026 |
33777 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
933T>A |
Asp311Glu |
M0082447 |
EGFFHDJI_00026 |
33780 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
930C>T |
Arg310Arg |
M0082448 |
EGFFHDJI_00026 |
33784 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
926T>C |
Val309Ala |
M0082449 |
EGFFHDJI_00026 |
33789 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
921C>T |
Ser307Ser |
M0082450 |
EGFFHDJI_00026 |
33813 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
897A>G |
Ala299Ala |
M0082451 |
EGFFHDJI_00026 |
34455 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
255C>T |
Thr85Thr |
M0082452 |
EGFFHDJI_00026 |
34491 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
219G>T |
Ala73Ala |
M0082453 |
EGFFHDJI_00026 |
34623 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
87A>C |
Ile29Ile |
M0082454 |
EGFFHDJI_00026 |
34635 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
75A>G |
Gly25Gly |
M0082455 |
EGFFHDJI_00026 |
34689 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
21A>C |
Leu7Phe |
M0082456 |
EGFFHDJI_00025 |
34717 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1046T>C |
None |
M0082457 |
EGFFHDJI_00025 |
34764 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1093T>A |
None |
M0082458 |
EGFFHDJI_00025 |
34766 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1095A>G |
None |
M0082459 |
EGFFHDJI_00025 |
34769 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1098T>A |
None |
M0082460 |
EGFFHDJI_00025 |
34832 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1161T>C |
None |
M0082461 |
EGFFHDJI_00025 |
34873 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1202A>T |
None |
M0082462 |
EGFFHDJI_00025 |
34882 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1211C>T |
None |
M0082463 |
EGFFHDJI_00025 |
34976 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1305G>T |
None |
M0082464 |
EGFFHDJI_00025 |
34980 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1309T>C |
None |
M0082465 |
EGFFHDJI_00025 |
34982 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1311C>T |
None |
M0082466 |
EGFFHDJI_00025 |
35004 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1333A>T |
None |
M0082467 |
EGFFHDJI_00025 |
35043 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1372T>C |
None |
M0082468 |
EGFFHDJI_00027 |
35157 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
87C>G |
Val29Val |
M0082469 |
EGFFHDJI_00027 |
35199 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
129A>G |
Glu43Glu |
M0082470 |
EGFFHDJI_00027 |
35260 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
190A>C |
Asn64His |
M0082471 |
EGFFHDJI_00027 |
35274 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
204A>G |
Val68Val |
M0082472 |
EGFFHDJI_00027 |
35284 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
214A>G |
Ile72Val |
M0082473 |
EGFFHDJI_00027 |
35295 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
225T>C |
Ala75Ala |
M0082474 |
EGFFHDJI_00027 |
35298 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
228T>C |
Tyr76Tyr |
M0082475 |
EGFFHDJI_00027 |
35331 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
261T>C |
Asp87Asp |
M0082476 |
EGFFHDJI_00027 |
35392 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
322G>A |
Val108Ile |
M0082477 |
EGFFHDJI_00027 |
35469 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
399A>T |
Thr133Thr |
M0082478 |
EGFFHDJI_00027 |
35508 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
438G>A |
Leu146Leu |
M0082479 |
EGFFHDJI_00027 |
35511 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
441T>C |
Pro147Pro |
M0082480 |
EGFFHDJI_00027 |
35517 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
447A>T |
Thr149Thr |
M0082481 |
EGFFHDJI_00028 |
35938 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
286T>G |
Cys96Gly |
M0082482 |
EGFFHDJI_00035 |
46769 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3988T>C |
None |
M0082483 |
EGFFHDJI_00047 |
54464 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
63A>C |
Leu21Leu |
M0082484 |
EGFFHDJI_00043 |
54653 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3940G>A |
None |
M0082485 |
EGFFHDJI_00043 |
54662 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3949A>T |
None |
M0082486 |
EGFFHDJI_00048 |
54955 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
225G>A |
Pro75Pro |
M0082487 |
EGFFHDJI_00049 |
55388 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
21A>G |
Ser7Ser |
M0082488 |
EGFFHDJI_00049 |
55394 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
27G>A |
Thr9Thr |
M0082489 |
EGFFHDJI_00044 |
55777 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4363T>G |
None |
M0082490 |
EGFFHDJI_00044 |
55798 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4384C>A |
None |
M0082491 |
EGFFHDJI_00044 |
55801 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4387A>G |
None |
M0082492 |
EGFFHDJI_00044 |
55811 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4397A>C |
None |
M0082493 |
EGFFHDJI_00044 |
55834 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4420A>G |
None |
M0082494 |
EGFFHDJI_00044 |
55866 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4452C>T |
None |
M0082495 |
EGFFHDJI_00044 |
55874 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4460A>G |
None |
M0082496 |
EGFFHDJI_00044 |
55876 |
4 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4462A>G |
None |
M0082497 |
EGFFHDJI_00050 |
56016 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
96T>A |
Gly32Gly |
M0082498 |
EGFFHDJI_00050 |
56022 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
102C>T |
Phe34Phe |
M0082499 |
EGFFHDJI_00050 |
56037 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
117A>G |
Gly39Gly |
M0082500 |
EGFFHDJI_00050 |
56061 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
141A>G |
Thr47Thr |
M0082501 |
EGFFHDJI_00050 |
56062 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
142C>T |
Leu48Leu |
M0082502 |
EGFFHDJI_00050 |
56088 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
168T>C |
Asp56Asp |
M0082503 |
EGFFHDJI_00050 |
56106 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
186G>A |
Ser62Ser |
M0082504 |
EGFFHDJI_00050 |
56172 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
252G>A |
Thr84Thr |
M0082505 |
EGFFHDJI_00050 |
56199 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
279T>C |
Tyr93Tyr |
M0082506 |
EGFFHDJI_00050 |
56202 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
282C>T |
Ser94Ser |
M0082507 |
EGFFHDJI_00050 |
56205 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
285A>C |
Val95Val |
M0082508 |
EGFFHDJI_00050 |
56208 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
288T>C |
Leu96Leu |
M0082509 |
EGFFHDJI_00050 |
56262 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
342T>C |
Ile114Ile |
M0082510 |
EGFFHDJI_00050 |
56376 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
456T>G |
Ala152Ala |
M0082511 |
EGFFHDJI_00050 |
56382 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
462G>A |
Ala154Ala |
M0082512 |
EGFFHDJI_00050 |
56385 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
465C>T |
Arg155Arg |
M0082513 |
EGFFHDJI_00050 |
56388 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
468A>C |
Ala156Ala |
M0082514 |
EGFFHDJI_00050 |
56397 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
477C>T |
His159His |
M0082515 |
EGFFHDJI_00050 |
56400 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
480A>G |
Lys160Lys |
M0082516 |
EGFFHDJI_00050 |
56403 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
483A>G |
Pro161Pro |
M0082517 |
EGFFHDJI_00050 |
56406 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
486T>C |
Ser162Ser |
M0082518 |
EGFFHDJI_00050 |
56412 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
492C>T |
Ile164Ile |
M0082519 |
EGFFHDJI_00050 |
56418 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
498A>C |
Ala166Ala |
M0082520 |
EGFFHDJI_00050 |
56439 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
519A>G |
Leu173Leu |
M0082521 |
EGFFHDJI_00050 |
56451 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
531C>T |
Ser177Ser |
M0082522 |
EGFFHDJI_00050 |
56475 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
555G>C |
Leu185Leu |
M0082523 |
EGFFHDJI_00050 |
56478 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
558G>A |
Glu186Glu |
M0082524 |
EGFFHDJI_00050 |
56490 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
570C>T |
Asn190Asn |
M0082525 |
EGFFHDJI_00050 |
56517 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
597A>C |
Val199Val |
M0082526 |
EGFFHDJI_00050 |
56553 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
633C>T |
Arg211Arg |
M0082527 |
EGFFHDJI_00050 |
56559 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
639C>T |
Ile213Ile |
M0082528 |
EGFFHDJI_00050 |
56580 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
660C>T |
Ile220Ile |
M0082529 |
EGFFHDJI_00051 |
56713 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
45T>C |
Ile15Ile |
M0082530 |
EGFFHDJI_00051 |
56740 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
72C>T |
Ser24Ser |
M0082531 |
EGFFHDJI_00051 |
56755 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
87C>T |
Ile29Ile |
M0082532 |
EGFFHDJI_00051 |
56788 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
Tyr40Tyr |
M0082533 |
EGFFHDJI_00051 |
56821 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
153T>G |
Asp51Glu |
M0082534 |
EGFFHDJI_00051 |
56836 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
168C>T |
Gly56Gly |
M0082535 |
EGFFHDJI_00051 |
56848 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
180C>T |
Gly60Gly |
M0082536 |
EGFFHDJI_00051 |
56866 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
198C>T |
Ile66Ile |
M0082537 |
EGFFHDJI_00051 |
56878 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
210T>C |
Val70Val |
M0082538 |
EGFFHDJI_00051 |
56893 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
225A>G |
Ala75Ala |
M0082539 |
EGFFHDJI_00051 |
56905 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
237C>T |
Phe79Phe |
M0082540 |
EGFFHDJI_00051 |
56908 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
240C>G |
Val80Val |
M0082541 |
EGFFHDJI_00051 |
56950 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
282G>A |
Gly94Gly |
M0082542 |
EGFFHDJI_00051 |
56956 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
288A>C |
Ser96Ser |
M0082543 |
EGFFHDJI_00051 |
56983 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
315T>C |
Ser105Ser |
M0082544 |
EGFFHDJI_00051 |
57016 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
348T>C |
Gly116Gly |
M0082545 |
EGFFHDJI_00051 |
57028 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
360G>A |
Val120Val |
M0082546 |
EGFFHDJI_00051 |
57052 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
384G>A |
Gln128Gln |
M0082547 |
EGFFHDJI_00051 |
57053 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
385C>T |
Leu129Leu |
M0082548 |
EGFFHDJI_00051 |
57058 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
390G>A |
Ala130Ala |
M0082549 |
EGFFHDJI_00051 |
57103 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
435G>A |
Ala145Ala |
M0082550 |
EGFFHDJI_00051 |
57139 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
471G>T |
Val157Val |
M0082551 |
EGFFHDJI_00051 |
57160 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
492T>C |
Phe164Phe |
M0082552 |
EGFFHDJI_00051 |
57172 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
504A>G |
Leu168Leu |
M0082553 |
EGFFHDJI_00051 |
57184 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
516G>C |
Ala172Ala |
M0082554 |
EGFFHDJI_00051 |
57185 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
517A>T |
Ile173Leu |
M0082555 |
EGFFHDJI_00051 |
57199 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
531C>T |
Arg177Arg |
M0082556 |
EGFFHDJI_00051 |
57208 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
540T>C |
Ile180Ile |
M0082557 |
EGFFHDJI_00051 |
57211 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
543C>T |
Leu181Leu |
M0082558 |
EGFFHDJI_00051 |
57238 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
570T>C |
Thr190Thr |
M0082559 |
EGFFHDJI_00051 |
57262 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
594G>A |
Thr198Thr |
M0082560 |
EGFFHDJI_00051 |
57271 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
603A>G |
Glu201Glu |
M0082561 |
EGFFHDJI_00051 |
57286 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
618A>C |
Ile206Ile |
M0082562 |
EGFFHDJI_00051 |
57298 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
630G>A |
Ala210Ala |
M0082563 |
EGFFHDJI_00051 |
57306 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
638C>T |
Ala213Val |
M0082564 |
EGFFHDJI_00051 |
57330 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
662G>A |
Gly221Glu |
M0082565 |
EGFFHDJI_00051 |
57343 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
675G>A |
Thr225Thr |
M0082566 |
EGFFHDJI_00051 |
57356 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
688G>A |
Val230Met |
M0082567 |
EGFFHDJI_00051 |
57365 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
697G>A |
Ala233Thr |
M0082568 |
EGFFHDJI_00051 |
57379 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
711G>T |
Val237Val |
M0082569 |
EGFFHDJI_00051 |
57385 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
717C>T |
Phe239Phe |
M0082570 |
EGFFHDJI_00051 |
57386 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
718T>C |
Leu240Leu |
M0082571 |
EGFFHDJI_00051 |
57391 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
723T>G |
Thr241Thr |
M0082572 |
EGFFHDJI_00051 |
57394 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
726T>C |
Val242Val |
M0082573 |
EGFFHDJI_00051 |
57472 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
804A>G |
Val268Val |
M0082574 |
EGFFHDJI_00051 |
57475 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
807A>G |
Ser269Ser |
M0082575 |
EGFFHDJI_00051 |
57658 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
990A>G |
Glu330Glu |
M0082576 |
EGFFHDJI_00051 |
57775 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1107C>T |
Gly369Gly |
M0082577 |
EGFFHDJI_00051 |
57789 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1121C>T |
Ala374Val |
M0082578 |
EGFFHDJI_00051 |
58099 |
4 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1431A>G |
Glu477Glu |
M0082579 |
EGFFHDJI_00051 |
58121 |
4 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1453T>C |
Ser485Pro |
M0082580 |
EGFFHDJI_00057 |
64402 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1842G>T |
Leu614Leu |
M0082581 |
EGFFHDJI_00057 |
64414 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1830C>G |
Thr610Thr |
M0082582 |
EGFFHDJI_00057 |
64432 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1812A>G |
Ser604Ser |
M0082583 |
EGFFHDJI_00057 |
64455 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1789A>G |
Asn597Asp |
M0082584 |
EGFFHDJI_00057 |
64477 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1767C>T |
Val589Val |
M0082585 |
EGFFHDJI_00057 |
64534 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1710A>C |
Thr570Thr |
M0082586 |
EGFFHDJI_00057 |
64536 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1708A>G |
Thr570Ala |
M0082587 |
EGFFHDJI_00057 |
64543 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1701T>C |
Ile567Ile |
M0082588 |
EGFFHDJI_00057 |
64555 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1689G>A |
Gln563Gln |
M0082589 |
EGFFHDJI_00057 |
64567 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1677A>T |
Thr559Thr |
M0082590 |
EGFFHDJI_00057 |
64591 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1653G>T |
Thr551Thr |
M0082591 |
EGFFHDJI_00057 |
64594 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1650C>T |
Asp550Asp |
M0082592 |
EGFFHDJI_00057 |
64603 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1641A>G |
Ala547Ala |
M0082593 |
EGFFHDJI_00057 |
64608 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1636G>A |
Val546Met |
M0082594 |
EGFFHDJI_00057 |
64618 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1626T>C |
Asn542Asn |
M0082595 |
EGFFHDJI_00057 |
64787 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1457T>C |
Leu486Pro |
M0082596 |
EGFFHDJI_00057 |
64788 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1456C>G |
Leu486Val |
M0082597 |
EGFFHDJI_00057 |
64837 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1407A>G |
Glu469Glu |
M0082598 |
EGFFHDJI_00057 |
64855 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1389T>C |
Val463Val |
M0082599 |
EGFFHDJI_00057 |
64870 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1374A>T |
Arg458Arg |
M0082600 |
EGFFHDJI_00057 |
64887 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1357T>C |
Leu453Leu |
M0082601 |
EGFFHDJI_00057 |
64888 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1356T>C |
Asp452Asp |
M0082602 |
EGFFHDJI_00057 |
64930 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1314C>T |
Gly438Gly |
M0082603 |
EGFFHDJI_00057 |
64942 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1302G>A |
Glu434Glu |
M0082604 |
EGFFHDJI_00057 |
64945 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1299C>T |
Val433Val |
M0082605 |
EGFFHDJI_00057 |
64963 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1281A>G |
Val427Val |
M0082606 |
EGFFHDJI_00057 |
65003 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1241C>T |
Thr414Ile |
M0082607 |
EGFFHDJI_00057 |
65028 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1216C>G |
Pro406Ala |
M0082608 |
EGFFHDJI_00057 |
65032 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1212G>A |
Glu404Glu |
M0082609 |
EGFFHDJI_00057 |
65037 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1207A>G |
Met403Val |
M0082610 |
EGFFHDJI_00057 |
65068 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1176A>G |
Lys392Lys |
M0082611 |
EGFFHDJI_00057 |
65071 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1173A>G |
Val391Val |
M0082612 |
EGFFHDJI_00057 |
65097 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1147T>G |
Ser383Ala |
M0082613 |
EGFFHDJI_00057 |
65105 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1139C>T |
Ala380Val |
M0082614 |
EGFFHDJI_00057 |
65116 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1128A>G |
Glu376Glu |
M0082615 |
EGFFHDJI_00057 |
65260 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
984T>C |
Val328Val |
M0082616 |
EGFFHDJI_00057 |
65284 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
960G>A |
Thr320Thr |
M0082617 |
EGFFHDJI_00057 |
65285 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
959C>A |
Thr320Lys |
M0082618 |
EGFFHDJI_00057 |
65286 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
958A>G |
Thr320Ala |
M0082619 |
EGFFHDJI_00057 |
65349 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
895T>G |
Ser299Ala |
M0082620 |
EGFFHDJI_00057 |
65374 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
870T>G |
Ile290Met |
M0082621 |
EGFFHDJI_00057 |
65383 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
861G>A |
Glu287Glu |
M0082622 |
EGFFHDJI_00057 |
65410 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
834G>A |
Ala278Ala |
M0082623 |
EGFFHDJI_00057 |
65413 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
831T>C |
Pro277Pro |
M0082624 |
EGFFHDJI_00057 |
65415 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
829C>A |
Pro277Thr |
M0082625 |
EGFFHDJI_00057 |
65446 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
798T>C |
Arg266Arg |
M0082626 |
EGFFHDJI_00057 |
65449 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
795T>A |
Leu265Leu |
M0082627 |
EGFFHDJI_00057 |
65451 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
793C>T |
Leu265Phe |
M0082628 |
EGFFHDJI_00057 |
65452 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
792T>C |
Phe264Phe |
M0082629 |
EGFFHDJI_00057 |
65467 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
777T>C |
Asp259Asp |
M0082630 |
EGFFHDJI_00057 |
65484 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
760A>C |
Arg254Arg |
M0082631 |
EGFFHDJI_00057 |
65503 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
741C>T |
Leu247Leu |
M0082632 |
EGFFHDJI_00057 |
65506 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
738A>G |
Glu246Glu |
M0082633 |
EGFFHDJI_00057 |
65514 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
730G>T |
Ala244Ser |
M0082634 |
EGFFHDJI_00057 |
65539 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
705T>C |
Leu235Leu |
M0082635 |
EGFFHDJI_00057 |
65587 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
657T>C |
Ile219Ile |
M0082636 |
EGFFHDJI_00057 |
65617 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
627C>T |
Val209Val |
M0082637 |
EGFFHDJI_00057 |
65634 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
610G>A |
Val204Ile |
M0082638 |
EGFFHDJI_00057 |
65665 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
579A>C |
Leu193Phe |
M0082639 |
EGFFHDJI_00057 |
65742 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
502G>T |
Ala168Ser |
M0082640 |
EGFFHDJI_00057 |
65752 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
492G>A |
Leu164Leu |
M0082641 |
EGFFHDJI_00057 |
65754 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
490C>T |
Leu164Leu |
M0082642 |
EGFFHDJI_00057 |
65782 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
462T>C |
Ile154Ile |
M0082643 |
EGFFHDJI_00057 |
65806 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
438G>A |
Leu146Leu |
M0082644 |
EGFFHDJI_00057 |
65830 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
414A>G |
Thr138Thr |
M0082645 |
EGFFHDJI_00057 |
65833 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
Phe137Phe |
M0082646 |
EGFFHDJI_00057 |
65848 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Gly132Gly |
M0082647 |
EGFFHDJI_00057 |
65872 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
372C>T |
Phe124Phe |
M0082648 |
EGFFHDJI_00057 |
65891 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
353T>G |
Phe118Cys |
M0082649 |
EGFFHDJI_00057 |
66103 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
141T>C |
Arg47Arg |
M0082650 |
EGFFHDJI_00057 |
66118 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
126C>T |
Asp42Asp |
M0082651 |
EGFFHDJI_00057 |
66130 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
114C>T |
Ile38Ile |
M0082652 |
EGFFHDJI_00057 |
66181 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
63C>T |
Cys21Cys |
M0082653 |
EGFFHDJI_00044 |
51016 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
399A>G |
Val133Val |
M0082654 |
EGFFHDJI_00044 |
51124 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
291G>A |
Lys97Lys |
M0082655 |
EGFFHDJI_00044 |
51139 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
276A>T |
Gly92Gly |
M0082656 |
EGFFHDJI_00044 |
51163 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
252C>T |
Thr84Thr |
M0082657 |
EGFFHDJI_00044 |
51168 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
247C>T |
Leu83Leu |
M0082658 |
EGFFHDJI_00044 |
51181 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
234G>A |
Ala78Ala |
M0082659 |
EGFFHDJI_00044 |
51253 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
162G>A |
Gln54Gln |
M0082660 |
EGFFHDJI_00044 |
51268 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
147G>A |
Ser49Ser |
M0082661 |
EGFFHDJI_00044 |
51277 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
138C>G |
Leu46Leu |
M0082662 |
EGFFHDJI_00044 |
51286 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
129G>A |
Leu43Leu |
M0082663 |
EGFFHDJI_00044 |
51288 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
127C>T |
Leu43Leu |
M0082664 |
EGFFHDJI_00044 |
51319 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
96C>T |
Gly32Gly |
M0082665 |
EGFFHDJI_00044 |
51334 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
81G>A |
Leu27Leu |
M0082666 |
EGFFHDJI_00044 |
51338 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
77G>A |
Arg26Gln |
M0082667 |
EGFFHDJI_00044 |
51355 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
60C>G |
Asn20Lys |
M0082668 |
EGFFHDJI_00038 |
51434 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4820G>A |
None |
M0082669 |
EGFFHDJI_00045 |
51525 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1176C>T |
Arg392Arg |
M0082670 |
EGFFHDJI_00045 |
51642 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1059T>C |
Ser353Ser |
M0082671 |
EGFFHDJI_00045 |
51696 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1005C>T |
Asp335Asp |
M0082672 |
EGFFHDJI_00045 |
51819 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
882G>C |
Val294Val |
M0082673 |
EGFFHDJI_00045 |
51828 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
873T>C |
Val291Val |
M0082674 |
EGFFHDJI_00045 |
51861 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
840A>G |
Leu280Leu |
M0082675 |
EGFFHDJI_00045 |
51879 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
822G>A |
Lys274Lys |
M0082676 |
EGFFHDJI_00045 |
51882 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
819A>G |
Gln273Gln |
M0082677 |
EGFFHDJI_00045 |
51954 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
747C>T |
Asn249Asn |
M0082678 |
EGFFHDJI_00045 |
51958 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
743G>A |
Gly248Asp |
M0082679 |
EGFFHDJI_00045 |
52011 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
690A>G |
Leu230Leu |
M0082680 |
EGFFHDJI_00045 |
52122 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
579C>A |
Val193Val |
M0082681 |
EGFFHDJI_00045 |
52155 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
546A>C |
Ala182Ala |
M0082682 |
EGFFHDJI_00045 |
52238 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
463C>T |
Leu155Leu |
M0082683 |
EGFFHDJI_00045 |
52251 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
450T>C |
Leu150Leu |
M0082684 |
EGFFHDJI_00045 |
52284 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
417T>C |
Ser139Ser |
M0082685 |
EGFFHDJI_00045 |
52332 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
369T>A |
Thr123Thr |
M0082686 |
EGFFHDJI_00045 |
52431 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
270T>C |
Ile90Ile |
M0082687 |
EGFFHDJI_00045 |
52509 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
192T>C |
Gly64Gly |
M0082688 |
EGFFHDJI_00045 |
52602 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
99A>G |
Thr33Thr |
M0082689 |
EGFFHDJI_00045 |
52683 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
18C>T |
Asn6Asn |
M0082690 |
EGFFHDJI_00039 |
52739 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4768T>G |
None |
M0082691 |
EGFFHDJI_00039 |
52745 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4774C>T |
None |
M0082692 |
EGFFHDJI_00039 |
52746 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4775T>C |
None |
M0082693 |
EGFFHDJI_00039 |
52748 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4777C>T |
None |
M0082694 |
EGFFHDJI_00039 |
52758 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4787T>G |
None |
M0082695 |
EGFFHDJI_00046 |
52910 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
75G>C |
Met25Ile |
M0082696 |
EGFFHDJI_00046 |
52912 |
3 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
73A>C |
Met25Leu |
M0082697 |
EGFFHDJI_00046 |
52913 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
72G>A |
Val24Val |
M0082698 |
EGFFHDJI_00046 |
52916 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
69T>C |
Tyr23Tyr |
M0082699 |
EGFFHDJI_00040 |
53059 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4970A>G |
None |
M0082700 |
EGFFHDJI_00043 |
53165 |
3 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2452A>C |
None |
M0082701 |
EGFFHDJI_00047 |
53189 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1338C>T |
Gly446Gly |
M0082702 |
EGFFHDJI_00047 |
53225 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1302C>A |
Gly434Gly |
M0082703 |
EGFFHDJI_00047 |
53336 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1191T>C |
Ser397Ser |
M0082704 |
EGFFHDJI_00047 |
53339 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1188C>T |
Ala396Ala |
M0082705 |
EGFFHDJI_00047 |
53345 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1182C>T |
Val394Val |
M0082706 |
EGFFHDJI_00047 |
53348 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1179T>A |
Gly393Gly |
M0082707 |
EGFFHDJI_00047 |
53360 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1167C>A |
Ala389Ala |
M0082708 |
EGFFHDJI_00047 |
53390 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1137A>T |
Arg379Arg |
M0082709 |
EGFFHDJI_00047 |
53396 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1131C>T |
Val377Val |
M0082710 |
EGFFHDJI_00047 |
53399 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1128T>C |
Ile376Ile |
M0082711 |
EGFFHDJI_00047 |
53458 |
3 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1069T>C |
Leu357Leu |
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 |
EGFFHDJI_00050 |
PHI:6579 |
VraD |
74.2 |
3.6e-105 |
1 |
252 |
1.0000 |
1.0000 |
moths |
skin infection; food poisoning; respiratory disease |
involved in gallidermin and daptomycin resistance |
reduced virulence |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
Gene Name |
cazy_id |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
EGFFHDJI_00018 |
QQC38486.1|GT2 |
99.5 |
5.28e-298 |
2 |
409 |
0.9976 |
1 |
EGFFHDJI_00020 |
ASE37284.1|CE4 |
98.1 |
2.23e-193 |
22 |
285 |
0.9263 |
1 |
EGFFHDJI_00057 |
ASE37317.1|GT2 |
96 |
0 |
1 |
627 |
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 |
EGFFHDJI_00050 |
3.A.1.134.11 |
74.2 |
8.2e-105 |
1 |
252 |
1.0000 |
4.0000 |
3 |
Primary Active Transporters |
3.A |
P-P-bond-hydrolysis-driven transporters |
3.A.1 |
The ATP-binding Cassette (ABC) Superfamily |