Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C631 |
Reference Plasmid |
NZ_CP039632.3 |
Reference Plasmid Size |
194607 |
Reference Plasmid GC Content |
0.60 |
Reference Plasmid Mobility Type |
conjugative |
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 |
M0095733 |
NNOOGMAD_00202 |
179649 |
8 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1632T>C |
Arg544Arg |
M0095734 |
NNOOGMAD_00202 |
179673 |
8 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1656G>A |
Ala552Ala |
M0095735 |
NNOOGMAD_00202 |
179700 |
8 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1683G>A |
Ser561Ser |
M0095736 |
NNOOGMAD_00202 |
179745 |
8 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1728G>C |
Leu576Leu |
M0095737 |
NNOOGMAD_00202 |
179773 |
8 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1756T>C |
Leu586Leu |
M0095738 |
NNOOGMAD_00202 |
179784 |
8 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1767T>C |
Phe589Phe |
M0095739 |
NNOOGMAD_00202 |
179808 |
8 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1791T>C |
Val597Val |
M0095740 |
NNOOGMAD_00202 |
179811 |
8 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1794T>C |
Gly598Gly |
M0095741 |
NNOOGMAD_00202 |
179838 |
8 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1821G>A |
Ala607Ala |
M0095742 |
NNOOGMAD_00202 |
179868 |
7 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1851A>G |
Pro617Pro |
M0095743 |
NNOOGMAD_00202 |
179885 |
7 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1868G>C |
Gly623Ala |
M0095744 |
NNOOGMAD_00202 |
179970 |
7 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1953A>C |
Ile651Ile |
M0095745 |
NNOOGMAD_00202 |
179988 |
7 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1971A>G |
Arg657Arg |
M0095746 |
NNOOGMAD_00203 |
180088 |
7 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-149A>C |
None |
M0095747 |
NNOOGMAD_00203 |
180161 |
5 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-76C>T |
None |
M0095748 |
NNOOGMAD_00203 |
180201 |
6 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-36C>A |
None |
M0095749 |
NNOOGMAD_00203 |
180238 |
7 |
Skin |
0.17 |
protein_coding |
start_lost |
HIGH |
2T>C |
Met1? |
M0095750 |
NNOOGMAD_00203 |
180276 |
7 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
40A>G |
Met14Val |
M0095751 |
NNOOGMAD_00203 |
180348 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
112T>C |
Cys38Arg |
M0095752 |
NNOOGMAD_00203 |
180350 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
114T>C |
Cys38Cys |
M0095753 |
NNOOGMAD_00203 |
180352 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
116G>T |
Gly39Val |
M0095754 |
NNOOGMAD_00203 |
180357 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
121A>G |
Thr41Ala |
M0095755 |
NNOOGMAD_00203 |
180358 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
122C>T |
Thr41Met |
M0095756 |
NNOOGMAD_00203 |
180363 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
127G>A |
Glu43Lys |
M0095757 |
NNOOGMAD_00203 |
180410 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
174G>A |
Thr58Thr |
M0095758 |
NNOOGMAD_00203 |
180416 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
180A>G |
Arg60Arg |
M0095759 |
NNOOGMAD_00203 |
180510 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
274C>T |
Leu92Leu |
M0095760 |
NNOOGMAD_00203 |
180524 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
288G>A |
Val96Val |
M0095761 |
NNOOGMAD_00203 |
180529 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
293G>C |
Arg98Pro |
M0095762 |
NNOOGMAD_00203 |
180547 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
311A>G |
Asp104Gly |
M0095763 |
NNOOGMAD_00203 |
180648 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
412C>T |
Pro138Ser |
M0095764 |
NNOOGMAD_00203 |
180720 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
484G>A |
Ala162Thr |
M0095765 |
NNOOGMAD_00203 |
180769 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
533C>T |
Pro178Leu |
M0095766 |
NNOOGMAD_00203 |
180805 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
569A>G |
Gln190Arg |
M0095767 |
NNOOGMAD_00204 |
180855 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
39G>A |
Val13Val |
M0095768 |
NNOOGMAD_00204 |
180992 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
176A>C |
Asn59Thr |
M0095769 |
NNOOGMAD_00204 |
181014 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
198C>T |
Ala66Ala |
M0095770 |
NNOOGMAD_00204 |
181052 |
5 |
Skin |
0.12 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
236A>G |
Ter79Ter |
M0095771 |
NNOOGMAD_00205 |
181236 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
158A>G |
His53Arg |
M0095772 |
NNOOGMAD_00199 |
176090 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
87C>A |
Ala29Ala |
M0095773 |
NNOOGMAD_00199 |
176111 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Arg36Arg |
M0095774 |
NNOOGMAD_00199 |
176135 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
132T>C |
Gly44Gly |
M0095775 |
NNOOGMAD_00199 |
176144 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
141A>T |
Gly47Gly |
M0095776 |
NNOOGMAD_00199 |
176160 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
157A>G |
Ser53Gly |
M0095777 |
NNOOGMAD_00199 |
176162 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
159T>C |
Ser53Ser |
M0095778 |
NNOOGMAD_00199 |
176165 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
162G>C |
Ala54Ala |
M0095779 |
NNOOGMAD_00199 |
176173 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
170G>A |
Arg57Lys |
M0095780 |
NNOOGMAD_00199 |
176213 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
210C>T |
Asp70Asp |
M0095781 |
NNOOGMAD_00199 |
176256 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
253G>A |
Ala85Thr |
M0095782 |
NNOOGMAD_00199 |
176258 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
255T>C |
Ala85Ala |
M0095783 |
NNOOGMAD_00199 |
176267 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
264A>G |
Gln88Gln |
M0095784 |
NNOOGMAD_00199 |
176268 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
265G>A |
Glu89Lys |
M0095785 |
NNOOGMAD_00199 |
176269 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
266A>C |
Glu89Ala |
M0095786 |
NNOOGMAD_00199 |
176270 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
267A>C |
Glu89Asp |
M0095787 |
NNOOGMAD_00199 |
176273 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
270T>G |
Leu90Leu |
M0095788 |
NNOOGMAD_00199 |
176285 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
282G>C |
Val94Val |
M0095789 |
NNOOGMAD_00199 |
176288 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
285T>C |
Asp95Asp |
M0095790 |
NNOOGMAD_00199 |
176295 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
292T>C |
Leu98Leu |
M0095791 |
NNOOGMAD_00199 |
176312 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
309A>G |
Ala103Ala |
M0095792 |
NNOOGMAD_00199 |
176339 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
336C>T |
Asn112Asn |
M0095793 |
NNOOGMAD_00199 |
176372 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
369C>T |
Asn123Asn |
M0095794 |
NNOOGMAD_00199 |
176375 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
372C>A |
Ala124Ala |
M0095795 |
NNOOGMAD_00199 |
176399 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
396T>C |
Tyr132Tyr |
M0095796 |
NNOOGMAD_00199 |
176408 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
405C>T |
Ala135Ala |
M0095797 |
NNOOGMAD_00199 |
176426 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
423A>G |
Ala141Ala |
M0095798 |
NNOOGMAD_00199 |
176498 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
495T>C |
Gly165Gly |
M0095799 |
NNOOGMAD_00199 |
176574 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
571G>C |
Ala191Pro |
M0095800 |
NNOOGMAD_00200 |
176922 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
177T>C |
Thr59Thr |
M0095801 |
NNOOGMAD_00200 |
177006 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
261A>C |
Pro87Pro |
M0095802 |
NNOOGMAD_00200 |
177012 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
267T>C |
Ser89Ser |
M0095803 |
NNOOGMAD_00200 |
177019 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
274G>C |
Asp92His |
M0095804 |
NNOOGMAD_00200 |
177171 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
426C>G |
Ile142Met |
M0095805 |
NNOOGMAD_00200 |
177207 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
462T>C |
Ser154Ser |
M0095806 |
NNOOGMAD_00200 |
177248 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
503A>G |
Asn168Ser |
M0095807 |
NNOOGMAD_00200 |
177258 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
513C>G |
Ala171Ala |
M0095808 |
NNOOGMAD_00200 |
177283 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
538C>T |
Arg180Cys |
M0095809 |
NNOOGMAD_00201 |
177392 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
60T>C |
Phe20Phe |
M0095810 |
NNOOGMAD_00201 |
177413 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
81A>G |
Pro27Pro |
M0095811 |
NNOOGMAD_00201 |
177470 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
138C>T |
Gly46Gly |
M0095812 |
NNOOGMAD_00201 |
177503 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
171C>G |
Pro57Pro |
M0095813 |
NNOOGMAD_00201 |
177656 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
324C>T |
Gly108Gly |
M0095814 |
NNOOGMAD_00026 |
20318 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
652A>G |
Asn218Asp |
M0095815 |
NNOOGMAD_00026 |
20326 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
660A>G |
Pro220Pro |
M0095816 |
NNOOGMAD_00026 |
20391 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
725A>G |
Gln242Arg |
M0095817 |
NNOOGMAD_00026 |
20394 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
728T>C |
Leu243Pro |
M0095818 |
NNOOGMAD_00026 |
20425 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
759C>G |
Asp253Glu |
M0095819 |
NNOOGMAD_00026 |
20435 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
769G>A |
Ala257Thr |
M0095820 |
NNOOGMAD_00026 |
20442 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
776G>C |
Gly259Ala |
M0095821 |
NNOOGMAD_00026 |
20460 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
794C>T |
Ala265Val |
M0095822 |
NNOOGMAD_00026 |
20472 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
806A>G |
His269Arg |
M0095823 |
NNOOGMAD_00026 |
20476 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
810A>C |
Leu270Phe |
M0095824 |
NNOOGMAD_00026 |
20491 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
825C>T |
Gly275Gly |
M0095825 |
NNOOGMAD_00026 |
20512 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
846T>C |
Ala282Ala |
M0095826 |
NNOOGMAD_00027 |
20527 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
11T>C |
Val4Ala |
M0095827 |
NNOOGMAD_00027 |
20549 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
33T>C |
Arg11Arg |
M0095828 |
NNOOGMAD_00027 |
20663 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Ser49Ser |
M0095829 |
NNOOGMAD_00027 |
20672 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
156A>G |
Ala52Ala |
M0095830 |
NNOOGMAD_00028 |
20815 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
70G>T |
Ala24Ser |
M0095831 |
NNOOGMAD_00028 |
20819 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
74T>C |
Val25Ala |
M0095832 |
NNOOGMAD_00028 |
20866 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
121T>C |
Leu41Leu |
M0095833 |
NNOOGMAD_00028 |
20961 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
216C>T |
Asp72Asp |
M0095834 |
NNOOGMAD_00028 |
21036 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
291C>G |
Ala97Ala |
M0095835 |
NNOOGMAD_00028 |
21087 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
342C>T |
Ile114Ile |
M0095836 |
NNOOGMAD_00028 |
21089 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
344T>C |
Val115Ala |
M0095837 |
NNOOGMAD_00028 |
21120 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
375T>C |
Gly125Gly |
M0095838 |
NNOOGMAD_00028 |
21144 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
399C>T |
His133His |
M0095839 |
NNOOGMAD_00028 |
21165 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
420C>G |
Arg140Arg |
M0095840 |
NNOOGMAD_00028 |
21189 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
444T>G |
Arg148Arg |
M0095841 |
NNOOGMAD_00028 |
21192 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
447C>G |
Ala149Ala |
M0095842 |
NNOOGMAD_00028 |
21204 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
459C>G |
Asp153Glu |
M0095843 |
NNOOGMAD_00028 |
21243 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
498G>A |
Ala166Ala |
M0095844 |
NNOOGMAD_00028 |
21252 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
507A>G |
Gln169Gln |
M0095845 |
NNOOGMAD_00028 |
21288 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
543T>C |
Tyr181Tyr |
M0095846 |
NNOOGMAD_00028 |
21296 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
551C>A |
Pro184Gln |
M0095847 |
NNOOGMAD_00028 |
21342 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
597G>T |
Leu199Leu |
M0095848 |
NNOOGMAD_00028 |
21443 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
698T>C |
Val233Ala |
M0095849 |
NNOOGMAD_00028 |
21460 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
715A>G |
Thr239Ala |
M0095850 |
NNOOGMAD_00028 |
21508 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
763G>A |
Ala255Thr |
M0095851 |
NNOOGMAD_00028 |
21555 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
810C>G |
Val270Val |
M0095852 |
NNOOGMAD_00028 |
21579 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
834G>A |
Glu278Glu |
M0095853 |
NNOOGMAD_00028 |
21633 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
888T>C |
Arg296Arg |
M0095854 |
NNOOGMAD_00028 |
21673 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
928T>A |
Ser310Thr |
M0095855 |
NNOOGMAD_00028 |
21685 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
940C>A |
Pro314Thr |
M0095856 |
NNOOGMAD_00028 |
21690 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
945T>A |
Ala315Ala |
M0095857 |
NNOOGMAD_00028 |
21692 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
947G>C |
Gly316Ala |
M0095858 |
NNOOGMAD_00028 |
21700 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
955A>C |
Thr319Pro |
M0095859 |
NNOOGMAD_00028 |
21722 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
977A>C |
Gln326Pro |
M0095860 |
NNOOGMAD_00028 |
21739 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
994G>A |
Ala332Thr |
M0095861 |
NNOOGMAD_00028 |
21740 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
995C>T |
Ala332Val |
M0095862 |
NNOOGMAD_00028 |
21751 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1006A>G |
Thr336Ala |
M0095863 |
NNOOGMAD_00028 |
21769 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1024T>C |
Ser342Pro |
M0095864 |
NNOOGMAD_00028 |
21775 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1030T>C |
Ser344Pro |
M0095865 |
NNOOGMAD_00028 |
21812 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1067A>C |
Glu356Ala |
M0095866 |
NNOOGMAD_00028 |
21853 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1108A>G |
Ile370Val |
M0095867 |
NNOOGMAD_00028 |
21929 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1184T>G |
Leu395Arg |
M0095868 |
NNOOGMAD_00186 |
168297 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1861G>A |
None |
M0095869 |
NNOOGMAD_00186 |
168300 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1864A>G |
None |
M0095870 |
NNOOGMAD_00186 |
168368 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1932C>T |
None |
M0095871 |
NNOOGMAD_00186 |
168378 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1942G>A |
None |
M0095872 |
NNOOGMAD_00186 |
168399 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1963A>G |
None |
M0095873 |
NNOOGMAD_00186 |
168409 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1973T>C |
None |
M0095874 |
NNOOGMAD_00186 |
168440 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2004T>C |
None |
M0095875 |
NNOOGMAD_00186 |
168446 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2010T>C |
None |
M0095876 |
NNOOGMAD_00186 |
168447 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2011T>G |
None |
M0095877 |
NNOOGMAD_00186 |
168473 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2037G>A |
None |
M0095878 |
NNOOGMAD_00186 |
168476 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2040A>G |
None |
M0095879 |
NNOOGMAD_00186 |
168497 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2061C>A |
None |
M0095880 |
NNOOGMAD_00186 |
168509 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2073T>C |
None |
M0095881 |
NNOOGMAD_00186 |
168534 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2098G>T |
None |
M0095882 |
NNOOGMAD_00186 |
168539 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2103G>A |
None |
M0095883 |
NNOOGMAD_00186 |
168550 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2114A>C |
None |
M0095884 |
NNOOGMAD_00186 |
168554 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2118A>T |
None |
M0095885 |
NNOOGMAD_00186 |
168561 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2125T>A |
None |
M0095886 |
NNOOGMAD_00189 |
168626 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
52G>A |
Val18Ile |
M0095887 |
NNOOGMAD_00189 |
168649 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
75T>C |
Ser25Ser |
M0095888 |
NNOOGMAD_00189 |
168692 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
118G>C |
Gly40Arg |
M0095889 |
NNOOGMAD_00189 |
168693 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
119G>A |
Gly40Glu |
M0095890 |
NNOOGMAD_00189 |
168749 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
175A>G |
Thr59Ala |
M0095891 |
NNOOGMAD_00189 |
168775 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
201C>T |
Ala67Ala |
M0095892 |
NNOOGMAD_00189 |
168789 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
215G>C |
Arg72Pro |
M0095893 |
NNOOGMAD_00189 |
168817 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
243G>C |
Glu81Asp |
M0095894 |
NNOOGMAD_00189 |
168823 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
249A>G |
Gln83Gln |
M0095895 |
NNOOGMAD_00189 |
168824 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
250A>G |
Ser84Gly |
M0095896 |
NNOOGMAD_00189 |
168827 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
253T>C |
Phe85Leu |
M0095897 |
NNOOGMAD_00189 |
168829 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
255C>G |
Phe85Leu |
M0095898 |
NNOOGMAD_00189 |
168859 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
285C>G |
Arg95Arg |
M0095899 |
NNOOGMAD_00189 |
168890 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
316C>T |
His106Tyr |
M0095900 |
NNOOGMAD_00189 |
168906 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
332G>A |
Arg111Lys |
M0095901 |
NNOOGMAD_00189 |
168949 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
375G>A |
Pro125Pro |
M0095902 |
NNOOGMAD_00189 |
168958 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
384C>T |
Ser128Ser |
M0095903 |
NNOOGMAD_00189 |
168967 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
393C>A |
Thr131Thr |
M0095904 |
NNOOGMAD_00189 |
169014 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
440T>C |
Val147Ala |
M0095905 |
NNOOGMAD_00189 |
169028 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
454A>G |
Met152Val |
M0095906 |
NNOOGMAD_00189 |
169034 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
460C>G |
Gln154Glu |
M0095907 |
NNOOGMAD_00189 |
169098 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
524G>A |
Gly175Glu |
M0095908 |
NNOOGMAD_00189 |
169108 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
534A>C |
Lys178Asn |
M0095909 |
NNOOGMAD_00189 |
169113 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
539T>C |
Leu180Pro |
M0095910 |
NNOOGMAD_00189 |
169150 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
576G>T |
Val192Val |
M0095911 |
NNOOGMAD_00189 |
169302 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
728T>A |
Leu243Gln |
M0095912 |
NNOOGMAD_00189 |
169309 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
735A>G |
Arg245Arg |
M0095913 |
NNOOGMAD_00186 |
169341 |
4 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2905G>A |
None |
M0095914 |
NNOOGMAD_00186 |
169342 |
4 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2906T>C |
None |
M0095915 |
NNOOGMAD_00186 |
169367 |
4 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2931T>A |
None |
M0095916 |
NNOOGMAD_00186 |
169399 |
4 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2963G>A |
None |
M0095917 |
NNOOGMAD_00186 |
169417 |
4 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2981A>G |
None |
M0095918 |
NNOOGMAD_00190 |
169494 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
42A>G |
Glu14Glu |
M0095919 |
NNOOGMAD_00190 |
169524 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
72G>A |
Glu24Glu |
M0095920 |
NNOOGMAD_00190 |
169529 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
77G>A |
Arg26Lys |
M0095921 |
NNOOGMAD_00190 |
169586 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
134G>A |
Arg45Lys |
M0095922 |
NNOOGMAD_00190 |
169596 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
144T>C |
Arg48Arg |
M0095923 |
NNOOGMAD_00190 |
169649 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
197T>C |
Val66Ala |
M0095924 |
NNOOGMAD_00190 |
169662 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
210G>A |
Lys70Lys |
M0095925 |
NNOOGMAD_00186 |
169683 |
4 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3247G>T |
None |
M0095926 |
NNOOGMAD_00186 |
169699 |
5 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3263T>G |
None |
M0095927 |
NNOOGMAD_00186 |
169703 |
5 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3267G>C |
None |
M0095928 |
NNOOGMAD_00186 |
169713 |
5 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3277A>G |
None |
M0095929 |
NNOOGMAD_00191 |
169738 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
24A>G |
Ser8Ser |
M0095930 |
NNOOGMAD_00191 |
169753 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
39C>G |
Val13Val |
M0095931 |
NNOOGMAD_00191 |
169765 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
51C>G |
Thr17Thr |
M0095932 |
NNOOGMAD_00191 |
169777 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
63T>C |
Asn21Asn |
M0095933 |
NNOOGMAD_00191 |
169783 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
69T>C |
Gly23Gly |
M0095934 |
NNOOGMAD_00191 |
169787 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
73C>T |
Leu25Phe |
M0095935 |
NNOOGMAD_00191 |
169792 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
78T>C |
Ile26Ile |
M0095936 |
NNOOGMAD_00191 |
169798 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
84T>C |
Asp28Asp |
M0095937 |
NNOOGMAD_00191 |
169831 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
117T>C |
Asp39Asp |
M0095938 |
NNOOGMAD_00191 |
169861 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
147G>A |
Thr49Thr |
M0095939 |
NNOOGMAD_00191 |
169873 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
159C>T |
Arg53Arg |
M0095940 |
NNOOGMAD_00191 |
169879 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
165T>C |
Pro55Pro |
M0095941 |
NNOOGMAD_00191 |
169901 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
187A>G |
Thr63Ala |
M0095942 |
NNOOGMAD_00191 |
169905 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
191G>T |
Cys64Phe |
M0095943 |
NNOOGMAD_00191 |
169912 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
198A>G |
Glu66Glu |
M0095944 |
NNOOGMAD_00191 |
169927 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
213C>A |
His71Gln |
M0095945 |
NNOOGMAD_00191 |
170015 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
301G>C |
Ala101Pro |
M0095946 |
NNOOGMAD_00191 |
170053 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
339T>C |
Val113Val |
M0095947 |
NNOOGMAD_00191 |
170068 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
354C>T |
Tyr118Tyr |
M0095948 |
NNOOGMAD_00191 |
170078 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
364T>C |
Leu122Leu |
M0095949 |
NNOOGMAD_00191 |
170149 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
435G>A |
Ser145Ser |
M0095950 |
NNOOGMAD_00191 |
170167 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
453C>T |
Ile151Ile |
M0095951 |
NNOOGMAD_00191 |
170170 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
456C>G |
Leu152Leu |
M0095952 |
NNOOGMAD_00191 |
170173 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
459G>C |
Ala153Ala |
M0095953 |
NNOOGMAD_00191 |
170182 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
468G>A |
Glu156Glu |
M0095954 |
NNOOGMAD_00191 |
170188 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
474G>C |
Arg158Arg |
M0095955 |
NNOOGMAD_00191 |
170197 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
483G>C |
Thr161Thr |
M0095956 |
NNOOGMAD_00191 |
170230 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
516G>C |
Arg172Arg |
M0095957 |
NNOOGMAD_00191 |
170248 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
534A>G |
Pro178Pro |
M0095958 |
NNOOGMAD_00191 |
170275 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
561C>T |
Arg187Arg |
M0095959 |
NNOOGMAD_00191 |
170366 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
652A>G |
Asn218Asp |
M0095960 |
NNOOGMAD_00191 |
170374 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
660A>G |
Pro220Pro |
M0095961 |
NNOOGMAD_00191 |
170439 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
725A>G |
Gln242Arg |
M0095962 |
NNOOGMAD_00191 |
170442 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
728T>C |
Leu243Pro |
M0095963 |
NNOOGMAD_00191 |
170473 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
759C>G |
Asp253Glu |
M0095964 |
NNOOGMAD_00191 |
170483 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
769G>A |
Ala257Thr |
M0095965 |
NNOOGMAD_00191 |
170490 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
776G>C |
Gly259Ala |
M0095966 |
NNOOGMAD_00191 |
170508 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
794C>T |
Ala265Val |
M0095967 |
NNOOGMAD_00191 |
170520 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
806A>G |
His269Arg |
M0095968 |
NNOOGMAD_00191 |
170524 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
810A>C |
Leu270Phe |
M0095969 |
NNOOGMAD_00191 |
170539 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
825C>T |
Gly275Gly |
M0095970 |
NNOOGMAD_00191 |
170560 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
846T>C |
Ala282Ala |
M0095971 |
NNOOGMAD_00192 |
170575 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
11T>C |
Val4Ala |
M0095972 |
NNOOGMAD_00192 |
170597 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
33T>C |
Arg11Arg |
M0095973 |
NNOOGMAD_00192 |
170711 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Ser49Ser |
M0095974 |
NNOOGMAD_00192 |
170720 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
156A>G |
Ala52Ala |
M0095975 |
NNOOGMAD_00193 |
170863 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
70G>T |
Ala24Ser |
M0095976 |
NNOOGMAD_00193 |
170867 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
74T>C |
Val25Ala |
M0095977 |
NNOOGMAD_00193 |
170914 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
121T>C |
Leu41Leu |
M0095978 |
NNOOGMAD_00193 |
171009 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
216C>T |
Asp72Asp |
M0095979 |
NNOOGMAD_00193 |
171084 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
291C>G |
Ala97Ala |
M0095980 |
NNOOGMAD_00193 |
171135 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
342C>T |
Ile114Ile |
M0095981 |
NNOOGMAD_00193 |
171137 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
344T>C |
Val115Ala |
M0095982 |
NNOOGMAD_00193 |
171168 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
375T>C |
Gly125Gly |
M0095983 |
NNOOGMAD_00193 |
171192 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
399C>T |
His133His |
M0095984 |
NNOOGMAD_00193 |
171213 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
420C>G |
Arg140Arg |
M0095985 |
NNOOGMAD_00193 |
171237 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
444T>G |
Arg148Arg |
M0095986 |
NNOOGMAD_00193 |
171240 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
447C>G |
Ala149Ala |
M0095987 |
NNOOGMAD_00193 |
171252 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
459C>G |
Asp153Glu |
M0095988 |
NNOOGMAD_00193 |
171291 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
498G>A |
Ala166Ala |
M0095989 |
NNOOGMAD_00193 |
171300 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
507A>G |
Gln169Gln |
M0095990 |
NNOOGMAD_00193 |
171336 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
543T>C |
Tyr181Tyr |
M0095991 |
NNOOGMAD_00193 |
171344 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
551C>A |
Pro184Gln |
M0095992 |
NNOOGMAD_00193 |
171390 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
597G>T |
Leu199Leu |
M0095993 |
NNOOGMAD_00193 |
171491 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
698T>C |
Val233Ala |
M0095994 |
NNOOGMAD_00193 |
171508 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
715A>G |
Thr239Ala |
M0095995 |
NNOOGMAD_00193 |
171556 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
763G>A |
Ala255Thr |
M0095996 |
NNOOGMAD_00193 |
171603 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
810C>G |
Val270Val |
M0095997 |
NNOOGMAD_00193 |
171627 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
834G>A |
Glu278Glu |
M0095998 |
NNOOGMAD_00193 |
171681 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
888T>C |
Arg296Arg |
M0095999 |
NNOOGMAD_00193 |
171721 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
928T>A |
Ser310Thr |
M0096000 |
NNOOGMAD_00193 |
171733 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
940C>A |
Pro314Thr |
M0096001 |
NNOOGMAD_00193 |
171738 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
945T>A |
Ala315Ala |
M0096002 |
NNOOGMAD_00193 |
171740 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
947G>C |
Gly316Ala |
M0096003 |
NNOOGMAD_00193 |
171748 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
955A>C |
Thr319Pro |
M0096004 |
NNOOGMAD_00193 |
171770 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
977A>C |
Gln326Pro |
M0096005 |
NNOOGMAD_00193 |
171787 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
994G>A |
Ala332Thr |
M0096006 |
NNOOGMAD_00193 |
171788 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
995C>T |
Ala332Val |
M0096007 |
NNOOGMAD_00193 |
171799 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1006A>G |
Thr336Ala |
M0096008 |
NNOOGMAD_00193 |
171817 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1024T>C |
Ser342Pro |
M0096009 |
NNOOGMAD_00193 |
171823 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1030T>C |
Ser344Pro |
M0096010 |
NNOOGMAD_00193 |
171860 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1067A>C |
Glu356Ala |
M0096011 |
NNOOGMAD_00193 |
171901 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1108A>G |
Ile370Val |
M0096012 |
NNOOGMAD_00193 |
171977 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1184T>G |
Leu395Arg |
M0096013 |
NNOOGMAD_00193 |
172242 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1449G>C |
Leu483Leu |
M0096014 |
NNOOGMAD_00193 |
172256 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1463T>C |
Val488Ala |
M0096015 |
NNOOGMAD_00193 |
172257 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1464A>G |
Val488Val |
M0096016 |
NNOOGMAD_00193 |
172263 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1470C>T |
Ser490Ser |
M0096017 |
NNOOGMAD_00193 |
172265 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1472T>C |
Val491Ala |
M0096018 |
NNOOGMAD_00193 |
172272 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1479A>G |
Pro493Pro |
M0096019 |
NNOOGMAD_00193 |
172275 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1482A>C |
Pro494Pro |
M0096020 |
NNOOGMAD_00193 |
172411 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1618T>C |
Leu540Leu |
M0096021 |
NNOOGMAD_00193 |
172419 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1626T>C |
Asp542Asp |
M0096022 |
NNOOGMAD_00193 |
172423 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1630G>C |
Glu544Gln |
M0096023 |
NNOOGMAD_00193 |
172433 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1640T>A |
Val547Glu |
M0096024 |
NNOOGMAD_00193 |
172438 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1645A>G |
Ser549Gly |
M0096025 |
NNOOGMAD_00193 |
172446 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1653T>A |
Asp551Glu |
M0096026 |
NNOOGMAD_00194 |
172493 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
24T>C |
Asn8Asn |
M0096027 |
NNOOGMAD_00194 |
172571 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
102G>A |
Glu34Glu |
M0096028 |
NNOOGMAD_00194 |
172661 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
192A>G |
Glu64Glu |
M0096029 |
NNOOGMAD_00194 |
172817 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
348G>A |
Leu116Leu |
M0096030 |
NNOOGMAD_00194 |
172850 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
381C>T |
Asp127Asp |
M0096031 |
NNOOGMAD_00194 |
172866 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
397G>A |
Ala133Thr |
M0096032 |
NNOOGMAD_00194 |
172896 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
427T>G |
Ser143Ala |
M0096033 |
NNOOGMAD_00202 |
178080 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
63T>C |
Ala21Ala |
M0096034 |
NNOOGMAD_00202 |
178110 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Gly31Gly |
M0096035 |
NNOOGMAD_00202 |
178113 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
96C>G |
Ala32Ala |
M0096036 |
NNOOGMAD_00202 |
178146 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
129A>G |
Leu43Leu |
M0096037 |
NNOOGMAD_00202 |
178149 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
132C>G |
Val44Val |
M0096038 |
NNOOGMAD_00202 |
178182 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
165G>A |
Gln55Gln |
M0096039 |
NNOOGMAD_00202 |
178197 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
180T>C |
Ala60Ala |
M0096040 |
NNOOGMAD_00202 |
178200 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
183G>C |
Met61Ile |
M0096041 |
NNOOGMAD_00202 |
178221 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
204C>T |
Pro68Pro |
M0096042 |
NNOOGMAD_00202 |
178233 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
216C>T |
Arg72Arg |
M0096043 |
NNOOGMAD_00202 |
178257 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
240G>A |
Ala80Ala |
M0096044 |
NNOOGMAD_00202 |
178311 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
294A>T |
Ile98Ile |
M0096045 |
NNOOGMAD_00202 |
178320 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
303C>T |
Asp101Asp |
M0096046 |
NNOOGMAD_00202 |
178365 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
348G>A |
Leu116Leu |
M0096047 |
NNOOGMAD_00202 |
178375 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
358G>C |
Ala120Pro |
M0096048 |
NNOOGMAD_00202 |
178376 |
6 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
359C>A |
Ala120Asp |
M0096049 |
NNOOGMAD_00202 |
178431 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
414A>G |
Lys138Lys |
M0096050 |
NNOOGMAD_00202 |
178434 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
417G>A |
Ala139Ala |
M0096051 |
NNOOGMAD_00202 |
178443 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
426G>A |
Ala142Ala |
M0096052 |
NNOOGMAD_00202 |
178525 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
508T>C |
Leu170Leu |
M0096053 |
NNOOGMAD_00202 |
178542 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
525A>G |
Thr175Thr |
M0096054 |
NNOOGMAD_00202 |
178545 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
528G>T |
Leu176Leu |
M0096055 |
NNOOGMAD_00202 |
178548 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
531G>A |
Leu177Leu |
M0096056 |
NNOOGMAD_00202 |
178551 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
534G>T |
Gly178Gly |
M0096057 |
NNOOGMAD_00202 |
178554 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
537T>G |
Arg179Arg |
M0096058 |
NNOOGMAD_00202 |
178566 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
549T>C |
Tyr183Tyr |
M0096059 |
NNOOGMAD_00202 |
178568 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
551C>T |
Thr184Met |
M0096060 |
NNOOGMAD_00202 |
178569 |
6 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
552G>C |
Thr184Thr |
M0096061 |
NNOOGMAD_00202 |
178612 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
595T>C |
Leu199Leu |
M0096062 |
NNOOGMAD_00202 |
178620 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
603G>C |
Val201Val |
M0096063 |
NNOOGMAD_00202 |
179007 |
7 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
990T>C |
Ser330Ser |
M0096064 |
NNOOGMAD_00202 |
179011 |
7 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
994T>C |
Trp332Arg |
M0096065 |
NNOOGMAD_00202 |
179012 |
7 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
995G>T |
Trp332Leu |
M0096066 |
NNOOGMAD_00202 |
179040 |
7 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1023C>T |
Ser341Ser |
M0096067 |
NNOOGMAD_00202 |
179059 |
7 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1042A>G |
Ser348Gly |
M0096068 |
NNOOGMAD_00202 |
179100 |
7 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1083C>T |
Arg361Arg |
M0096069 |
NNOOGMAD_00202 |
179106 |
7 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1089C>T |
Arg363Arg |
M0096070 |
NNOOGMAD_00202 |
179109 |
7 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1092C>G |
Ala364Ala |
M0096071 |
NNOOGMAD_00202 |
179229 |
8 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1212T>C |
Leu404Leu |
M0096072 |
NNOOGMAD_00202 |
179289 |
8 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1272T>C |
Ser424Ser |
M0096073 |
NNOOGMAD_00202 |
179327 |
8 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1310T>C |
Ile437Thr |
M0096074 |
NNOOGMAD_00202 |
179328 |
8 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1311C>T |
Ile437Ile |
M0096075 |
NNOOGMAD_00202 |
179337 |
8 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1320T>C |
Arg440Arg |
M0096076 |
NNOOGMAD_00202 |
179376 |
8 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1359C>A |
Gly453Gly |
M0096077 |
NNOOGMAD_00202 |
179424 |
8 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1407G>C |
Leu469Leu |
M0096078 |
NNOOGMAD_00202 |
179457 |
7 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1440G>A |
Ala480Ala |
M0096079 |
NNOOGMAD_00202 |
179466 |
7 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1449G>C |
Thr483Thr |
M0096080 |
NNOOGMAD_00202 |
179478 |
7 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1461A>G |
Lys487Lys |
M0096081 |
NNOOGMAD_00205 |
181195 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
117C>T |
Gly39Gly |
M0096082 |
NNOOGMAD_00060 |
47132 |
4 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-935T>C |
None |
M0096083 |
NNOOGMAD_00060 |
47142 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-945C>A |
None |
M0096084 |
NNOOGMAD_00063 |
47225 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
39G>A |
Ala13Ala |
M0096085 |
NNOOGMAD_00063 |
47285 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
99C>A |
Ala33Ala |
M0096086 |
NNOOGMAD_00063 |
47288 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
102T>G |
Gly34Gly |
M0096087 |
NNOOGMAD_00063 |
47393 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
207T>C |
Asp69Asp |
M0096088 |
NNOOGMAD_00063 |
47434 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
248A>T |
Asp83Val |
M0096089 |
NNOOGMAD_00063 |
47519 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
333C>T |
Arg111Arg |
M0096090 |
NNOOGMAD_00063 |
47533 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
347A>G |
Lys116Arg |
M0096091 |
NNOOGMAD_00063 |
47552 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Thr122Thr |
M0096092 |
NNOOGMAD_00063 |
47594 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
408G>C |
Pro136Pro |
M0096093 |
NNOOGMAD_00063 |
47595 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
409A>G |
Thr137Ala |
M0096094 |
NNOOGMAD_00063 |
47608 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
422A>G |
Gln141Arg |
M0096095 |
NNOOGMAD_00063 |
47613 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
427A>G |
Ile143Val |
M0096096 |
NNOOGMAD_00063 |
47616 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
430C>T |
His144Tyr |
M0096097 |
NNOOGMAD_00063 |
47630 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
444G>T |
Arg148Arg |
M0096098 |
NNOOGMAD_00063 |
47640 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
454C>T |
Leu152Leu |
M0096099 |
NNOOGMAD_00063 |
47656 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
470G>A |
Arg157Lys |
M0096100 |
NNOOGMAD_00063 |
47678 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
492C>G |
Leu164Leu |
M0096101 |
NNOOGMAD_00063 |
47714 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
528A>G |
Gln176Gln |
M0096102 |
NNOOGMAD_00063 |
47750 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
564A>G |
Leu188Leu |
M0096103 |
NNOOGMAD_00063 |
47767 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
581T>C |
Phe194Ser |
M0096104 |
NNOOGMAD_00063 |
47840 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
654A>G |
Pro218Pro |
M0096105 |
NNOOGMAD_00063 |
47842 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
656G>A |
Arg219Lys |
M0096106 |
NNOOGMAD_00063 |
47915 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
729C>T |
Thr243Thr |
M0096107 |
NNOOGMAD_00063 |
47930 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
744C>A |
Gly248Gly |
M0096108 |
NNOOGMAD_00063 |
47939 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
753G>A |
Arg251Arg |
M0096109 |
NNOOGMAD_00063 |
47947 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
761T>C |
Met254Thr |
M0096110 |
NNOOGMAD_00063 |
47972 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
786A>T |
Arg262Arg |
M0096111 |
NNOOGMAD_00063 |
47976 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
790C>T |
Leu264Leu |
M0096112 |
NNOOGMAD_00063 |
48015 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
829C>T |
Leu277Leu |
M0096113 |
NNOOGMAD_00063 |
48099 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
913G>C |
Gly305Arg |
M0096114 |
NNOOGMAD_00063 |
48135 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
949T>C |
Tyr317His |
M0096115 |
NNOOGMAD_00063 |
48159 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
973C>T |
Leu325Leu |
M0096116 |
NNOOGMAD_00063 |
48203 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1017A>G |
Lys339Lys |
M0096117 |
NNOOGMAD_00063 |
48242 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1056C>T |
Ile352Ile |
M0096118 |
NNOOGMAD_00063 |
48245 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1059T>C |
Arg353Arg |
M0096119 |
NNOOGMAD_00063 |
48248 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1062C>G |
Gly354Gly |
M0096120 |
NNOOGMAD_00063 |
48338 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1152C>G |
Ala384Ala |
M0096121 |
NNOOGMAD_00063 |
48374 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1188A>C |
Arg396Arg |
M0096122 |
NNOOGMAD_00063 |
48401 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1215C>G |
Arg405Arg |
M0096123 |
NNOOGMAD_00063 |
48467 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1281T>C |
Gly427Gly |
M0096124 |
NNOOGMAD_00063 |
48487 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1301A>C |
Glu434Ala |
M0096125 |
NNOOGMAD_00063 |
48503 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1317G>C |
Ala439Ala |
M0096126 |
NNOOGMAD_00063 |
48509 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1323T>C |
Ser441Ser |
M0096127 |
NNOOGMAD_00063 |
48532 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1346G>T |
Ser449Ile |
M0096128 |
NNOOGMAD_00063 |
48554 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1368T>C |
Gly456Gly |
M0096129 |
NNOOGMAD_00063 |
48599 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1413A>G |
Ala471Ala |
M0096130 |
NNOOGMAD_00063 |
48602 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1416G>T |
Val472Val |
M0096131 |
NNOOGMAD_00063 |
48610 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1424A>C |
Gln475Pro |
M0096132 |
NNOOGMAD_00063 |
48611 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1425G>T |
Gln475His |
M0096133 |
NNOOGMAD_00063 |
48632 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1446G>A |
Val482Val |
M0096134 |
NNOOGMAD_00063 |
48656 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1470A>G |
Arg490Arg |
M0096135 |
NNOOGMAD_00063 |
48662 |
4 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1476T>A |
Asp492Glu |
M0096136 |
NNOOGMAD_00063 |
48663 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1477T>C |
Leu493Leu |
M0096137 |
NNOOGMAD_00063 |
48680 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1494A>G |
Glu498Glu |
M0096138 |
NNOOGMAD_00063 |
48728 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1542A>G |
Lys514Lys |
M0096139 |
NNOOGMAD_00063 |
48731 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1545T>C |
Ser515Ser |
M0096140 |
NNOOGMAD_00063 |
48756 |
5 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1570C>A |
Gln524Lys |
M0096141 |
NNOOGMAD_00063 |
48812 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1626C>T |
Asp542Asp |
M0096142 |
NNOOGMAD_00063 |
48818 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1632C>T |
His544His |
M0096143 |
NNOOGMAD_00063 |
48827 |
5 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1641G>A |
Pro547Pro |
M0096144 |
NNOOGMAD_00063 |
48851 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1665T>C |
Ser555Ser |
M0096145 |
NNOOGMAD_00063 |
48908 |
4 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1722G>A |
Gln574Gln |
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 |
NNOOGMAD_00168 |
Tellurium (Te) |
71.3 |
1.3e-136 |
16 |
371 |
0.9570 |
0.9418 |
experiment |
NNOOGMAD_00141 |
Mercury (Hg) |
96.7 |
9.7e-42 |
1 |
91 |
1.0000 |
1.0000 |
prediction |
NNOOGMAD_00168 |
Tellurium (Te) |
71.6 |
1.8e-134 |
16 |
371 |
0.9570 |
0.9418 |
prediction |
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 |