Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
| Cluster Information |
Plasmid Cluster ID |
C1530 |
| Reference Plasmid |
1111525849478674_bin.7__k141_243854 |
| Reference Plasmid Size |
72900 |
| Reference Plasmid GC Content |
0.65 |
| Reference Plasmid Mobility Type |
non-mobilizable |
Mutation sites in the plasmid cluster
The table lists mutations identified in the plasmid cluster.
Note: Mutations identified in this plasmid cluster are listed below. Click on a mutation ID to view full details..
| mutid |
gname |
pos |
count |
tissue |
frequnt |
biotype |
consequence |
impact |
nucchange |
aachange |
| M0005818 |
BHMMHFHN_00003 |
2530 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
44C>T |
Ala15Val |
| M0005819 |
BHMMHFHN_00003 |
2569 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
5G>A |
Ser2Asn |
| M0005820 |
BHMMHFHN_00001 |
2604 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2302A>G |
None |
| M0005821 |
BHMMHFHN_00001 |
2605 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2303G>T |
None |
| M0005822 |
BHMMHFHN_00001 |
2611 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2309C>G |
None |
| M0005823 |
BHMMHFHN_00001 |
2619 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2317T>G |
None |
| M0005824 |
BHMMHFHN_00001 |
2725 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2423T>C |
None |
| M0005825 |
BHMMHFHN_00004 |
3128 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
351G>A |
Ala117Ala |
| M0005826 |
BHMMHFHN_00004 |
3137 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
360T>A |
Ala120Ala |
| M0005827 |
BHMMHFHN_00004 |
3230 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
453A>C |
Glu151Asp |
| M0005828 |
BHMMHFHN_00001 |
3319 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3017T>C |
None |
| M0005829 |
BHMMHFHN_00005 |
3343 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
15T>C |
His5His |
| M0005830 |
BHMMHFHN_00005 |
3367 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
39A>G |
Ala13Ala |
| M0005831 |
BHMMHFHN_00005 |
3397 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
69C>G |
Arg23Arg |
| M0005832 |
BHMMHFHN_00005 |
3442 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
114T>C |
Ala38Ala |
| M0005833 |
BHMMHFHN_00005 |
3553 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
225C>A |
Ala75Ala |
| M0005834 |
BHMMHFHN_00005 |
3631 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
303C>G |
Thr101Thr |
| M0005835 |
BHMMHFHN_00005 |
3637 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
309T>C |
Gly103Gly |
| M0005836 |
BHMMHFHN_00006 |
4644 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
338A>G |
Lys113Arg |
| M0005837 |
BHMMHFHN_00006 |
4645 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
339A>G |
Lys113Lys |
| M0005838 |
BHMMHFHN_00006 |
4735 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
429C>G |
Leu143Leu |
| M0005839 |
BHMMHFHN_00006 |
4741 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
435A>G |
Gln145Gln |
| M0005840 |
BHMMHFHN_00006 |
4960 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
654T>C |
Ala218Ala |
| M0005841 |
BHMMHFHN_00006 |
5161 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
855T>C |
Ala285Ala |
| M0005842 |
BHMMHFHN_00006 |
5204 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
898T>C |
Leu300Leu |
| M0005843 |
BHMMHFHN_00006 |
5239 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
933G>C |
Ala311Ala |
| M0005844 |
BHMMHFHN_00006 |
5326 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1020T>C |
Asp340Asp |
| M0005845 |
BHMMHFHN_00007 |
5515 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1147T>C |
Leu383Leu |
| M0005846 |
BHMMHFHN_00007 |
5519 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1143G>A |
Lys381Lys |
| M0005847 |
BHMMHFHN_00007 |
5521 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1141A>G |
Lys381Glu |
| M0005848 |
BHMMHFHN_00007 |
5533 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1129G>C |
Glu377Gln |
| M0005849 |
BHMMHFHN_00007 |
5763 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
899T>C |
Val300Ala |
| M0005850 |
BHMMHFHN_00007 |
5798 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
864T>C |
Tyr288Tyr |
| M0005851 |
BHMMHFHN_00007 |
5810 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
852G>C |
Gly284Gly |
| M0005852 |
BHMMHFHN_00007 |
6538 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
124A>C |
Met42Leu |
| M0005853 |
BHMMHFHN_00003 |
6668 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4095T>C |
None |
| M0005854 |
BHMMHFHN_00003 |
6679 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4106T>C |
None |
| M0005855 |
BHMMHFHN_00003 |
6681 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4108A>G |
None |
| M0005856 |
BHMMHFHN_00003 |
6695 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4122A>C |
None |
| M0005857 |
BHMMHFHN_00003 |
6696 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4123T>C |
None |
| M0005858 |
BHMMHFHN_00003 |
6699 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4126C>T |
None |
| M0005859 |
BHMMHFHN_00003 |
6701 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4128C>A |
None |
| M0005860 |
BHMMHFHN_00008 |
7074 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
873C>T |
Gly291Gly |
| M0005861 |
BHMMHFHN_00008 |
7155 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
792A>G |
Ala264Ala |
| M0005862 |
BHMMHFHN_00008 |
7284 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
663C>G |
Leu221Leu |
| M0005863 |
BHMMHFHN_00008 |
7352 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
595A>C |
Met199Leu |
| M0005864 |
BHMMHFHN_00008 |
7353 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
594A>C |
Arg198Arg |
| M0005865 |
BHMMHFHN_00008 |
7641 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
306C>G |
Ser102Ser |
| M0005866 |
BHMMHFHN_00008 |
7669 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
278G>A |
Gly93Asp |
| M0005867 |
BHMMHFHN_00008 |
7863 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
84A>G |
Gly28Gly |
| M0005868 |
BHMMHFHN_00009 |
8025 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
832A>G |
Thr278Ala |
| M0005869 |
BHMMHFHN_00009 |
8161 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
696G>A |
Glu232Glu |
| M0005870 |
BHMMHFHN_00009 |
8190 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
667A>G |
Ser223Gly |
| M0005871 |
BHMMHFHN_00009 |
8214 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
643C>A |
Arg215Ser |
| M0005872 |
BHMMHFHN_00009 |
8314 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
543G>C |
Ala181Ala |
| M0005873 |
BHMMHFHN_00009 |
8819 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
38G>A |
Arg13Gln |
| M0005874 |
BHMMHFHN_00010 |
8888 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1230C>T |
Ala410Ala |
| M0005875 |
BHMMHFHN_00010 |
8891 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1227C>G |
Pro409Pro |
| M0005876 |
BHMMHFHN_00010 |
8910 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1208C>A |
Ala403Glu |
| M0005877 |
BHMMHFHN_00010 |
8913 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1205A>G |
Glu402Gly |
| M0005878 |
BHMMHFHN_00010 |
8926 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1192G>A |
Ala398Thr |
| M0005879 |
BHMMHFHN_00010 |
9023 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1095G>C |
Ala365Ala |
| M0005880 |
BHMMHFHN_00010 |
9419 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
699G>C |
Gly233Gly |
| M0005881 |
BHMMHFHN_00010 |
9434 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
684T>G |
Leu228Leu |
| M0005882 |
BHMMHFHN_00010 |
9689 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
429G>A |
Gln143Gln |
| M0005883 |
BHMMHFHN_00007 |
10161 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3500A>C |
None |
| M0005884 |
BHMMHFHN_00007 |
10221 |
6 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3560C>A |
None |
| M0005885 |
BHMMHFHN_00007 |
10236 |
6 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3575T>A |
None |
| M0005886 |
BHMMHFHN_00007 |
10240 |
6 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3579C>A |
None |
| M0005887 |
BHMMHFHN_00011 |
10527 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
219A>C |
Arg73Arg |
| M0005888 |
BHMMHFHN_00011 |
10661 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
353C>T |
Ala118Val |
| M0005889 |
BHMMHFHN_00011 |
10670 |
6 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
362C>T |
Ala121Val |
| M0005890 |
BHMMHFHN_00011 |
10954 |
6 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
646T>G |
Leu216Val |
| M0005891 |
BHMMHFHN_00011 |
11136 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
828C>T |
His276His |
| M0005892 |
BHMMHFHN_00011 |
11163 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
855G>C |
Val285Val |
| M0005893 |
BHMMHFHN_00011 |
11550 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1242C>T |
Tyr414Tyr |
| M0005894 |
BHMMHFHN_00011 |
11640 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1332C>G |
Val444Val |
| M0005895 |
BHMMHFHN_00011 |
11673 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1365G>A |
Glu455Glu |
| M0005896 |
BHMMHFHN_00011 |
11685 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1377C>T |
Arg459Arg |
| M0005897 |
BHMMHFHN_00011 |
11697 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1389A>G |
Ala463Ala |
| M0005898 |
BHMMHFHN_00011 |
11739 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1431T>C |
Gly477Gly |
| M0005899 |
BHMMHFHN_00011 |
11772 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1464C>T |
Tyr488Tyr |
| M0005900 |
BHMMHFHN_00011 |
11808 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1500T>G |
Val500Val |
| M0005901 |
BHMMHFHN_00008 |
11859 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3913C>A |
None |
| M0005902 |
BHMMHFHN_00012 |
11894 |
6 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
1259C>G |
Ala420Gly |
| M0005903 |
BHMMHFHN_00012 |
12082 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1071C>T |
Asp357Asp |
| M0005904 |
BHMMHFHN_00012 |
12220 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
933A>G |
Gly311Gly |
| M0005905 |
BHMMHFHN_00012 |
12237 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
916C>A |
Arg306Arg |
| M0005906 |
BHMMHFHN_00012 |
12349 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
804C>G |
Gly268Gly |
| M0005907 |
BHMMHFHN_00012 |
12870 |
5 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
283A>G |
Thr95Ala |
| M0005908 |
BHMMHFHN_00009 |
13216 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4360T>A |
None |
| M0005909 |
BHMMHFHN_00009 |
13264 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4408A>C |
None |
| M0005910 |
BHMMHFHN_00009 |
13327 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4471C>T |
None |
| M0005911 |
BHMMHFHN_00009 |
13329 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4473G>C |
None |
| M0005912 |
BHMMHFHN_00009 |
13356 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4500C>G |
None |
| M0005913 |
BHMMHFHN_00009 |
13381 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4525A>G |
None |
| M0005914 |
BHMMHFHN_00009 |
13459 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4603A>C |
None |
| M0005915 |
BHMMHFHN_00009 |
13518 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4662T>G |
None |
| M0005916 |
BHMMHFHN_00013 |
13752 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
105C>T |
Asp35Asp |
| M0005917 |
BHMMHFHN_00013 |
13974 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
327C>G |
Arg109Arg |
| M0005918 |
BHMMHFHN_00013 |
14409 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
762G>A |
Glu254Glu |
| M0005919 |
BHMMHFHN_00013 |
14592 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
945T>C |
Leu315Leu |
| M0005920 |
BHMMHFHN_00014 |
14705 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
99T>C |
Gly33Gly |
| M0005921 |
BHMMHFHN_00014 |
14708 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
102T>C |
Ala34Ala |
| M0005922 |
BHMMHFHN_00014 |
14772 |
5 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
166C>A |
Arg56Ser |
| M0005923 |
BHMMHFHN_00014 |
14915 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
309A>G |
Ala103Ala |
| M0005924 |
BHMMHFHN_00014 |
14948 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
342C>T |
Gly114Gly |
| M0005925 |
BHMMHFHN_00014 |
15018 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
412C>T |
Leu138Leu |
| M0005926 |
BHMMHFHN_00014 |
15353 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
747T>C |
His249His |
| M0005927 |
BHMMHFHN_00015 |
15943 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
206C>T |
Ala69Val |
| M0005928 |
BHMMHFHN_00015 |
16004 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
267T>C |
Cys89Cys |
| M0005929 |
BHMMHFHN_00015 |
16139 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
402G>C |
Pro134Pro |
| M0005930 |
BHMMHFHN_00016 |
16594 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
58G>A |
Asp20Asn |
| M0005931 |
BHMMHFHN_00012 |
16907 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3755C>G |
None |
| M0005932 |
BHMMHFHN_00012 |
16974 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3822A>G |
None |
| M0005933 |
BHMMHFHN_00017 |
17334 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
246A>G |
Gly82Gly |
| M0005934 |
BHMMHFHN_00017 |
17349 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
231G>T |
Leu77Leu |
| M0005935 |
BHMMHFHN_00020 |
18823 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
75G>A |
Ala25Ala |
| M0005936 |
BHMMHFHN_00017 |
19107 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1528G>T |
None |
| M0005937 |
BHMMHFHN_00021 |
19125 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
927G>T |
Pro309Pro |
| M0005938 |
BHMMHFHN_00021 |
19131 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
921A>G |
Thr307Thr |
| M0005939 |
BHMMHFHN_00021 |
19138 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
914C>G |
Pro305Arg |
| M0005940 |
BHMMHFHN_00021 |
19145 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
907C>G |
Gln303Glu |
| M0005941 |
BHMMHFHN_00021 |
19209 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
843A>G |
Thr281Thr |
| M0005942 |
BHMMHFHN_00021 |
19212 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
840A>G |
Glu280Glu |
| M0005943 |
BHMMHFHN_00021 |
19221 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
831C>T |
Asp277Asp |
| M0005944 |
BHMMHFHN_00021 |
19226 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
826C>T |
Leu276Leu |
| M0005945 |
BHMMHFHN_00021 |
19227 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
825G>A |
Ala275Ala |
| M0005946 |
BHMMHFHN_00021 |
19242 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
810C>G |
Ser270Ser |
| M0005947 |
BHMMHFHN_00021 |
19272 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
780C>A |
Pro260Pro |
| M0005948 |
BHMMHFHN_00021 |
19283 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
769G>T |
Ala257Ser |
| M0005949 |
BHMMHFHN_00021 |
19302 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
750G>A |
Gln250Gln |
| M0005950 |
BHMMHFHN_00021 |
19359 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
693A>C |
Arg231Arg |
| M0005951 |
BHMMHFHN_00021 |
19362 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
690G>C |
Pro230Pro |
| M0005952 |
BHMMHFHN_00021 |
19365 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
687T>C |
Phe229Phe |
| M0005953 |
BHMMHFHN_00021 |
19368 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
684T>C |
Pro228Pro |
| M0005954 |
BHMMHFHN_00021 |
19371 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
681C>G |
Gly227Gly |
| M0005955 |
BHMMHFHN_00021 |
19419 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
633A>G |
Gln211Gln |
| M0005956 |
BHMMHFHN_00021 |
19467 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
585A>G |
Glu195Glu |
| M0005957 |
BHMMHFHN_00021 |
19497 |
5 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
555A>C |
Gln185His |
| M0005958 |
BHMMHFHN_00021 |
19545 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
507A>G |
Ala169Ala |
| M0005959 |
BHMMHFHN_00021 |
19610 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
442C>T |
Leu148Leu |
| M0005960 |
BHMMHFHN_00021 |
19635 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
417A>G |
Ala139Ala |
| M0005961 |
BHMMHFHN_00021 |
19664 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
388C>T |
Leu130Leu |
| M0005962 |
BHMMHFHN_00021 |
19674 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
378C>A |
Val126Val |
| M0005963 |
BHMMHFHN_00021 |
19827 |
5 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
225C>G |
Asp75Glu |
| M0005964 |
BHMMHFHN_00022 |
20156 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1989C>T |
Arg663Arg |
| M0005965 |
BHMMHFHN_00022 |
20180 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1965A>C |
Thr655Thr |
| M0005966 |
BHMMHFHN_00022 |
20240 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1905C>G |
Ala635Ala |
| M0005967 |
BHMMHFHN_00022 |
20252 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1893T>C |
Tyr631Tyr |
| M0005968 |
BHMMHFHN_00022 |
20255 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1890C>T |
Arg630Arg |
| M0005969 |
BHMMHFHN_00022 |
20267 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1878C>G |
Leu626Leu |
| M0005970 |
BHMMHFHN_00022 |
20876 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1269C>G |
Thr423Thr |
| M0005971 |
BHMMHFHN_00022 |
21299 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
846G>T |
Ala282Ala |
| M0005972 |
BHMMHFHN_00022 |
21310 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
835T>C |
Leu279Leu |
| M0005973 |
BHMMHFHN_00022 |
21311 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
834C>G |
Gly278Gly |
| M0005974 |
BHMMHFHN_00022 |
21314 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
831T>C |
Tyr277Tyr |
| M0005975 |
BHMMHFHN_00022 |
21332 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
813A>G |
Gly271Gly |
| M0005976 |
BHMMHFHN_00022 |
21335 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
810C>A |
Gly270Gly |
| M0005977 |
BHMMHFHN_00022 |
21341 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
804C>T |
Phe268Phe |
| M0005978 |
BHMMHFHN_00022 |
21347 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
798A>G |
Thr266Thr |
| M0005979 |
BHMMHFHN_00022 |
21377 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
768C>A |
Ile256Ile |
| M0005980 |
BHMMHFHN_00022 |
21380 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
765C>G |
Gly255Gly |
| M0005981 |
BHMMHFHN_00022 |
21383 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
762C>G |
Ala254Ala |
| M0005982 |
BHMMHFHN_00022 |
21470 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
675C>A |
Ala225Ala |
| M0005983 |
BHMMHFHN_00022 |
21763 |
7 |
Skin |
0.28 |
protein_coding |
missense_variant |
MODERATE |
382C>T |
Pro128Ser |
| M0005984 |
BHMMHFHN_00022 |
21843 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
302T>C |
Val101Ala |
| M0005985 |
BHMMHFHN_00022 |
21844 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
301G>C |
Val101Leu |
| M0005986 |
BHMMHFHN_00022 |
21851 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
294A>T |
Gln98His |
| M0005987 |
BHMMHFHN_00022 |
21896 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
249G>C |
Thr83Thr |
| M0005988 |
BHMMHFHN_00022 |
21932 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Ala71Ala |
| M0005989 |
BHMMHFHN_00023 |
22494 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
132C>G |
Ala44Ala |
| M0005990 |
BHMMHFHN_00023 |
22503 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
141C>G |
Leu47Leu |
| M0005991 |
BHMMHFHN_00023 |
22554 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
192T>G |
Val64Val |
| M0005992 |
BHMMHFHN_00023 |
22608 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
246A>G |
Ala82Ala |
| M0005993 |
BHMMHFHN_00023 |
22623 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
261C>G |
Ala87Ala |
| M0005994 |
BHMMHFHN_00023 |
22627 |
5 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
265A>C |
Ile89Leu |
| M0005995 |
BHMMHFHN_00023 |
22662 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
300G>T |
Gly100Gly |
| M0005996 |
BHMMHFHN_00023 |
22719 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
357T>G |
Ala119Ala |
| M0005997 |
BHMMHFHN_00023 |
22722 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
360C>T |
Ala120Ala |
| M0005998 |
BHMMHFHN_00025 |
23030 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
756A>G |
Lys252Lys |
| M0005999 |
BHMMHFHN_00025 |
23087 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
699C>G |
Thr233Thr |
| M0006000 |
BHMMHFHN_00025 |
23186 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
600T>C |
Ala200Ala |
| M0006001 |
BHMMHFHN_00025 |
23244 |
6 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
542C>G |
Ala181Gly |
| M0006002 |
BHMMHFHN_00025 |
23320 |
5 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
466G>A |
Ala156Thr |
| M0006003 |
BHMMHFHN_00025 |
23340 |
6 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
446C>T |
Thr149Ile |
| M0006004 |
BHMMHFHN_00025 |
23495 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
291A>G |
Ala97Ala |
| M0006005 |
BHMMHFHN_00025 |
23522 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
264C>T |
Ala88Ala |
| M0006006 |
BHMMHFHN_00021 |
23847 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3796A>T |
None |
| M0006007 |
BHMMHFHN_00021 |
23852 |
7 |
Skin |
0.28 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3801G>T |
None |
| M0006008 |
BHMMHFHN_00021 |
23857 |
7 |
Skin |
0.28 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3806T>C |
None |
| M0006009 |
BHMMHFHN_00021 |
23871 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3820A>G |
None |
| M0006010 |
BHMMHFHN_00026 |
23919 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
6T>C |
Leu2Leu |
| M0006011 |
BHMMHFHN_00026 |
24075 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
162C>T |
Gly54Gly |
| M0006012 |
BHMMHFHN_00026 |
24432 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
519G>C |
Pro173Pro |
| M0006013 |
BHMMHFHN_00026 |
24579 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
666C>G |
Thr222Thr |
| M0006014 |
BHMMHFHN_00026 |
24594 |
7 |
Skin |
0.28 |
protein_coding |
missense_variant |
MODERATE |
681G>C |
Glu227Asp |
| M0006015 |
BHMMHFHN_00026 |
24600 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
687A>C |
Gly229Gly |
| M0006016 |
BHMMHFHN_00026 |
24642 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
729A>G |
Ala243Ala |
| M0006017 |
BHMMHFHN_00026 |
24643 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
730T>C |
Leu244Leu |
| M0006018 |
BHMMHFHN_00026 |
24662 |
7 |
Skin |
0.28 |
protein_coding |
missense_variant |
MODERATE |
749A>G |
Glu250Gly |
| M0006019 |
BHMMHFHN_00027 |
24707 |
7 |
Skin |
0.28 |
protein_coding |
missense_variant |
MODERATE |
1183A>G |
Thr395Ala |
| M0006020 |
BHMMHFHN_00027 |
24738 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1152G>A |
Ala384Ala |
| M0006021 |
BHMMHFHN_00027 |
24756 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1134G>C |
Gly378Gly |
| M0006022 |
BHMMHFHN_00027 |
24762 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
1128G>T |
Val376Val |
| M0006023 |
BHMMHFHN_00027 |
24855 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1035G>C |
Gly345Gly |
| M0006024 |
BHMMHFHN_00027 |
24957 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
933C>T |
Val311Val |
| M0006025 |
BHMMHFHN_00027 |
24975 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
915A>G |
Gln305Gln |
| M0006026 |
BHMMHFHN_00027 |
24978 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
912A>G |
Glu304Glu |
| M0006027 |
BHMMHFHN_00027 |
25068 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
822C>G |
Gly274Gly |
| M0006028 |
BHMMHFHN_00027 |
25080 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
810G>A |
Ala270Ala |
| M0006029 |
BHMMHFHN_00027 |
25083 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
807C>A |
Ala269Ala |
| M0006030 |
BHMMHFHN_00027 |
25113 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
777T>C |
Phe259Phe |
| M0006031 |
BHMMHFHN_00027 |
25116 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
774C>T |
Ala258Ala |
| M0006032 |
BHMMHFHN_00027 |
25128 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
762G>C |
Thr254Thr |
| M0006033 |
BHMMHFHN_00027 |
25152 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
738A>G |
Ala246Ala |
| M0006034 |
BHMMHFHN_00027 |
25188 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
702T>C |
Asn234Asn |
| M0006035 |
BHMMHFHN_00027 |
25410 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
480T>A |
Gly160Gly |
| M0006036 |
BHMMHFHN_00027 |
25602 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
288C>A |
Ala96Ala |
| M0006037 |
BHMMHFHN_00027 |
25622 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
268C>T |
Leu90Leu |
| M0006038 |
BHMMHFHN_00027 |
25647 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
243A>G |
Arg81Arg |
| M0006039 |
BHMMHFHN_00027 |
25656 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
234A>G |
Glu78Glu |
| M0006040 |
BHMMHFHN_00027 |
25719 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
171G>C |
Thr57Thr |
| M0006041 |
BHMMHFHN_00027 |
25728 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
162G>C |
Gly54Gly |
| M0006042 |
BHMMHFHN_00022 |
25911 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3767A>G |
None |
| M0006043 |
BHMMHFHN_00022 |
25956 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3812T>G |
None |
| M0006044 |
BHMMHFHN_00022 |
25960 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3816T>C |
None |
| M0006045 |
BHMMHFHN_00022 |
25961 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3817C>T |
None |
| M0006046 |
BHMMHFHN_00022 |
25964 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3820G>A |
None |
| M0006047 |
BHMMHFHN_00028 |
25979 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
14T>C |
Ile5Thr |
| M0006048 |
BHMMHFHN_00028 |
26114 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
149T>C |
Val50Ala |
| M0006049 |
BHMMHFHN_00028 |
26145 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
180C>G |
Arg60Arg |
| M0006050 |
BHMMHFHN_00028 |
26148 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
183G>T |
Arg61Arg |
| M0006051 |
BHMMHFHN_00028 |
26178 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
213C>A |
Arg71Arg |
| M0006052 |
BHMMHFHN_00029 |
26442 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
18A>G |
Leu6Leu |
| M0006053 |
BHMMHFHN_00029 |
26781 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
357G>A |
Glu119Glu |
| M0006054 |
BHMMHFHN_00029 |
26872 |
6 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
448G>A |
Ala150Thr |
| M0006055 |
BHMMHFHN_00029 |
26898 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
474C>T |
Gly158Gly |
| M0006056 |
BHMMHFHN_00029 |
26899 |
6 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
475A>G |
Ile159Val |
| M0006057 |
BHMMHFHN_00022 |
26914 |
6 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4770G>A |
None |
| M0006058 |
BHMMHFHN_00022 |
26915 |
6 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4771G>A |
None |
| M0006059 |
BHMMHFHN_00022 |
26918 |
6 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4774A>G |
None |
| M0006060 |
BHMMHFHN_00022 |
26921 |
6 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4777G>A |
None |
| M0006061 |
BHMMHFHN_00030 |
27072 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1929G>C |
Arg643Arg |
| M0006062 |
BHMMHFHN_00030 |
27366 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1635C>G |
Gly545Gly |
| M0006063 |
BHMMHFHN_00030 |
27510 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
1491G>C |
Thr497Thr |
| M0006064 |
BHMMHFHN_00030 |
27516 |
7 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
1485C>T |
Gly495Gly |
| M0006065 |
BHMMHFHN_00030 |
27756 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1245G>T |
Val415Val |
| M0006066 |
BHMMHFHN_00030 |
27864 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1137G>C |
Glu379Asp |
| M0006067 |
BHMMHFHN_00030 |
27867 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1134A>C |
Arg378Arg |
| M0006068 |
BHMMHFHN_00030 |
28539 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
462T>C |
Ser154Ser |
| M0006069 |
BHMMHFHN_00030 |
28596 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
405C>G |
Ser135Ser |
| M0006070 |
BHMMHFHN_00030 |
28605 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
396G>C |
Leu132Leu |
| M0006071 |
BHMMHFHN_00030 |
28629 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
372C>G |
Val124Val |
| M0006072 |
BHMMHFHN_00030 |
28671 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
330C>T |
Asp110Asp |
| M0006073 |
BHMMHFHN_00030 |
28716 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
285G>C |
Gly95Gly |
| M0006074 |
BHMMHFHN_00030 |
28752 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
249G>A |
Lys83Lys |
| M0006075 |
BHMMHFHN_00030 |
28824 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
177T>C |
Ile59Ile |
| M0006076 |
BHMMHFHN_00030 |
28961 |
5 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
40T>G |
Ser14Ala |
| M0006077 |
BHMMHFHN_00027 |
29183 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3294G>A |
None |
| M0006078 |
BHMMHFHN_00027 |
29198 |
6 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3309C>T |
None |
| M0006079 |
BHMMHFHN_00027 |
29221 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3332T>G |
None |
| M0006080 |
BHMMHFHN_00027 |
29237 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3348C>T |
None |
| M0006081 |
BHMMHFHN_00027 |
29288 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3399G>A |
None |
| M0006082 |
BHMMHFHN_00027 |
29310 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3421G>C |
None |
| M0006083 |
BHMMHFHN_00031 |
29381 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1392A>G |
Ser464Ser |
| M0006084 |
BHMMHFHN_00031 |
29411 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1362C>T |
Ile454Ile |
| M0006085 |
BHMMHFHN_00031 |
29477 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1296G>C |
Leu432Leu |
| M0006086 |
BHMMHFHN_00031 |
29633 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1140T>C |
Ile380Ile |
| M0006087 |
BHMMHFHN_00031 |
29666 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1107A>G |
Glu369Glu |
| M0006088 |
BHMMHFHN_00031 |
29681 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1092C>G |
Val364Val |
| M0006089 |
BHMMHFHN_00031 |
29696 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1077T>C |
Phe359Phe |
| M0006090 |
BHMMHFHN_00031 |
29699 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1074G>C |
Ala358Ala |
| M0006091 |
BHMMHFHN_00031 |
29776 |
6 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
997G>A |
Ala333Thr |
| M0006092 |
BHMMHFHN_00031 |
29778 |
6 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
995G>A |
Arg332Gln |
| M0006093 |
BHMMHFHN_00031 |
29779 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
994C>A |
Arg332Arg |
| M0006094 |
BHMMHFHN_00031 |
29888 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
885A>G |
Ala295Ala |
| M0006095 |
BHMMHFHN_00031 |
29891 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
882C>T |
Ala294Ala |
| M0006096 |
BHMMHFHN_00031 |
29909 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
864G>C |
Leu288Leu |
| M0006097 |
BHMMHFHN_00031 |
29942 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
831C>G |
Pro277Pro |
| M0006098 |
BHMMHFHN_00031 |
30071 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
702C>G |
Ala234Ala |
| M0006099 |
BHMMHFHN_00031 |
30113 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
660C>G |
Ala220Ala |
| M0006100 |
BHMMHFHN_00031 |
30224 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
549G>T |
Gly183Gly |
| M0006101 |
BHMMHFHN_00031 |
30381 |
6 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
392G>A |
Gly131Asp |
| M0006102 |
BHMMHFHN_00031 |
30752 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
21A>T |
Pro7Pro |
| M0006103 |
BHMMHFHN_00032 |
31077 |
5 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
323G>A |
Ser108Asn |
| M0006104 |
BHMMHFHN_00032 |
31270 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
130C>A |
Arg44Arg |
| M0006105 |
BHMMHFHN_00030 |
31518 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2518G>T |
None |
| M0006106 |
BHMMHFHN_00033 |
32024 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
591G>T |
Pro197Pro |
| M0006107 |
BHMMHFHN_00033 |
32027 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
588G>T |
Thr196Thr |
| M0006108 |
BHMMHFHN_00033 |
32053 |
5 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
562G>C |
Val188Leu |
| M0006109 |
BHMMHFHN_00033 |
32240 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
375G>A |
Glu125Glu |
| M0006110 |
BHMMHFHN_00033 |
32462 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
153A>C |
Pro51Pro |
| M0006111 |
BHMMHFHN_00033 |
32604 |
5 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
11T>C |
Ile4Thr |
| M0006112 |
BHMMHFHN_00035 |
32826 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1569C>T |
Pro523Pro |
| M0006113 |
BHMMHFHN_00035 |
33159 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1236T>C |
Ile412Ile |
| M0006114 |
BHMMHFHN_00035 |
33170 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1225T>C |
Leu409Leu |
| M0006115 |
BHMMHFHN_00035 |
33477 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
918T>G |
Leu306Leu |
| M0006116 |
BHMMHFHN_00035 |
33546 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
849A>G |
Val283Val |
| M0006117 |
BHMMHFHN_00035 |
34185 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
210T>C |
Ser70Ser |
| M0006118 |
BHMMHFHN_00035 |
34203 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
192C>G |
Ser64Ser |
| M0006119 |
BHMMHFHN_00035 |
34206 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
189T>C |
Ile63Ile |
| M0006120 |
BHMMHFHN_00031 |
34427 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3655T>C |
None |
| M0006121 |
BHMMHFHN_00036 |
35013 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
783C>G |
Pro261Pro |
| M0006122 |
BHMMHFHN_00036 |
35016 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
780T>G |
Ala260Ala |
| M0006123 |
BHMMHFHN_00036 |
35031 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
765T>C |
Arg255Arg |
| M0006124 |
BHMMHFHN_00036 |
35286 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
510A>G |
Glu170Glu |
| M0006125 |
BHMMHFHN_00036 |
35664 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
132C>A |
Gly44Gly |
| M0006126 |
BHMMHFHN_00032 |
35801 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4402T>A |
None |
| M0006127 |
BHMMHFHN_00010 |
9065 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1053C>A |
Ala351Ala |
| M0006128 |
BHMMHFHN_00010 |
9383 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
735C>T |
Asp245Asp |
| M0006129 |
BHMMHFHN_00011 |
10830 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
522G>T |
Ala174Ala |
| M0006130 |
BHMMHFHN_00011 |
10941 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
633G>C |
Glu211Asp |
| M0006131 |
BHMMHFHN_00011 |
11252 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
944G>A |
Gly315Glu |
| M0006132 |
BHMMHFHN_00014 |
15479 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
873A>G |
Glu291Glu |
| M0006133 |
BHMMHFHN_00022 |
20645 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1500G>A |
Glu500Glu |
| M0006134 |
BHMMHFHN_00022 |
21041 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1104A>G |
Lys368Lys |
| M0006135 |
BHMMHFHN_00022 |
21047 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1098G>C |
Met366Ile |
| M0006136 |
BHMMHFHN_00022 |
21116 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1029G>T |
Pro343Pro |
| M0006137 |
BHMMHFHN_00017 |
22314 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4735C>T |
None |
| M0006138 |
BHMMHFHN_00023 |
22461 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
99C>T |
Ser33Ser |
| M0006139 |
BHMMHFHN_00024 |
22882 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
105G>A |
Thr35Thr |
| M0006140 |
BHMMHFHN_00024 |
22909 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
132G>A |
Leu44Leu |
| M0006141 |
BHMMHFHN_00025 |
23533 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
253C>A |
Arg85Arg |
| M0006142 |
BHMMHFHN_00025 |
23534 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
252G>T |
Val84Val |
| M0006143 |
BHMMHFHN_00021 |
23910 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3859A>G |
None |
| M0006144 |
BHMMHFHN_00027 |
24743 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1147C>T |
Leu383Leu |
| M0006145 |
BHMMHFHN_00027 |
24750 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1140G>A |
Ala380Ala |
| M0006146 |
BHMMHFHN_00027 |
24751 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1139C>G |
Ala380Gly |
| M0006147 |
BHMMHFHN_00027 |
25461 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
429A>G |
Ala143Ala |
| M0006148 |
BHMMHFHN_00029 |
26783 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
359T>G |
Leu120Arg |
| M0006149 |
BHMMHFHN_00030 |
27447 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1554C>T |
Phe518Phe |
| M0006150 |
BHMMHFHN_00030 |
27459 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1542C>G |
Phe514Leu |
| M0006151 |
BHMMHFHN_00030 |
27891 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1110C>T |
Phe370Phe |
| M0006152 |
BHMMHFHN_00030 |
27896 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1105C>T |
Leu369Leu |
| M0006153 |
BHMMHFHN_00030 |
28071 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
930T>G |
Thr310Thr |
| M0006154 |
BHMMHFHN_00030 |
28502 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
499G>A |
Gly167Ser |
| M0006155 |
BHMMHFHN_00042 |
47142 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
512C>G |
Pro171Arg |
| M0006156 |
BHMMHFHN_00044 |
47739 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
180C>G |
Ser60Ser |
| M0006157 |
BHMMHFHN_00044 |
47744 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
175C>G |
Leu59Val |
| M0006158 |
BHMMHFHN_00044 |
47892 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
27G>C |
Leu9Phe |
| M0006159 |
BHMMHFHN_00041 |
48026 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3538A>G |
None |
| M0006160 |
BHMMHFHN_00041 |
48045 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3557A>G |
None |
| M0006161 |
BHMMHFHN_00041 |
48047 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3559T>A |
None |
| M0006162 |
BHMMHFHN_00041 |
48130 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3642C>A |
None |
| M0006163 |
BHMMHFHN_00041 |
48133 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3645G>C |
None |
| M0006164 |
BHMMHFHN_00041 |
48136 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3648T>G |
None |
| M0006165 |
BHMMHFHN_00041 |
48302 |
5 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3814A>G |
None |
| M0006166 |
BHMMHFHN_00045 |
48365 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
39C>G |
Ala13Ala |
| M0006167 |
BHMMHFHN_00045 |
48398 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
72G>A |
Glu24Glu |
| M0006168 |
BHMMHFHN_00045 |
48464 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
138G>C |
Thr46Thr |
| M0006169 |
BHMMHFHN_00045 |
48539 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
213A>G |
Ala71Ala |
| M0006170 |
BHMMHFHN_00045 |
48578 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
252G>C |
Ala84Ala |
| M0006171 |
BHMMHFHN_00045 |
48579 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
253C>T |
Leu85Phe |
| M0006172 |
BHMMHFHN_00045 |
48581 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
255C>G |
Leu85Leu |
| M0006173 |
BHMMHFHN_00045 |
48584 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
258G>T |
Pro86Pro |
| M0006174 |
BHMMHFHN_00045 |
48693 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
367C>T |
Leu123Leu |
| M0006175 |
BHMMHFHN_00046 |
49007 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
39A>G |
Ala13Ala |
| M0006176 |
BHMMHFHN_00046 |
49197 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
229C>T |
Leu77Leu |
| M0006177 |
BHMMHFHN_00041 |
49323 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4835A>C |
None |
| M0006178 |
BHMMHFHN_00047 |
49442 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
114A>G |
Lys38Lys |
| M0006179 |
BHMMHFHN_00047 |
49497 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
169C>T |
Leu57Leu |
| M0006180 |
BHMMHFHN_00047 |
49566 |
6 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
238A>C |
Ile80Leu |
| M0006181 |
BHMMHFHN_00047 |
49602 |
6 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
274A>G |
Asn92Asp |
| M0006182 |
BHMMHFHN_00047 |
49603 |
6 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
275A>C |
Asn92Thr |
| M0006183 |
BHMMHFHN_00047 |
49604 |
6 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
276C>G |
Asn92Lys |
| M0006184 |
BHMMHFHN_00047 |
49631 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
303C>G |
Gly101Gly |
| M0006185 |
BHMMHFHN_00043 |
49715 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2180T>C |
None |
| M0006186 |
BHMMHFHN_00043 |
49716 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2181G>T |
None |
| M0006187 |
BHMMHFHN_00043 |
49805 |
6 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2270A>G |
None |
| M0006188 |
BHMMHFHN_00043 |
49807 |
6 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2272T>C |
None |
| M0006189 |
BHMMHFHN_00043 |
49875 |
6 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2340A>T |
None |
| M0006190 |
BHMMHFHN_00048 |
50245 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
330T>C |
Asp110Asp |
| M0006191 |
BHMMHFHN_00048 |
50467 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
552G>A |
Glu184Glu |
| M0006192 |
BHMMHFHN_00048 |
50551 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
636C>T |
Val212Val |
| M0006193 |
BHMMHFHN_00048 |
50653 |
5 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
738G>C |
Gln246His |
| M0006194 |
BHMMHFHN_00048 |
50659 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
744C>T |
Asp248Asp |
| M0006195 |
BHMMHFHN_00048 |
50665 |
6 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
750G>T |
Ala250Ala |
| M0006196 |
BHMMHFHN_00048 |
51079 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1164T>C |
Asn388Asn |
| M0006197 |
BHMMHFHN_00048 |
51209 |
5 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1294T>C |
Leu432Leu |
| M0006198 |
BHMMHFHN_00048 |
51280 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1365T>C |
Asp455Asp |
| M0006199 |
BHMMHFHN_00048 |
51304 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1389A>G |
Glu463Glu |
| M0006200 |
BHMMHFHN_00048 |
51552 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1637C>T |
Ala546Val |
| M0006201 |
BHMMHFHN_00043 |
51600 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4065G>A |
None |
| M0006202 |
BHMMHFHN_00043 |
51604 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4069G>A |
None |
| M0006203 |
BHMMHFHN_00043 |
51606 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4071T>C |
None |
| M0006204 |
BHMMHFHN_00043 |
51609 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4074A>G |
None |
| M0006205 |
BHMMHFHN_00043 |
51634 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4099T>G |
None |
| M0006206 |
BHMMHFHN_00043 |
51649 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4114C>T |
None |
| M0006207 |
BHMMHFHN_00043 |
51654 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4119T>C |
None |
| M0006208 |
BHMMHFHN_00043 |
51664 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4129C>G |
None |
| M0006209 |
BHMMHFHN_00043 |
51671 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4136T>G |
None |
| M0006210 |
BHMMHFHN_00043 |
51693 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4158C>T |
None |
| M0006211 |
BHMMHFHN_00049 |
51710 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1893T>C |
Asn631Asn |
| M0006212 |
BHMMHFHN_00049 |
51734 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1869C>T |
Pro623Pro |
| M0006213 |
BHMMHFHN_00049 |
51962 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1641C>T |
Asp547Asp |
| M0006214 |
BHMMHFHN_00049 |
52055 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1548C>G |
Val516Val |
| M0006215 |
BHMMHFHN_00049 |
52298 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1305A>G |
Glu435Glu |
| M0006216 |
BHMMHFHN_00049 |
53415 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
188C>T |
Ala63Val |
| M0006217 |
BHMMHFHN_00050 |
53968 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
525T>C |
Asp175Asp |
| M0006218 |
BHMMHFHN_00050 |
54123 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
370A>G |
Asn124Asp |
| M0006219 |
BHMMHFHN_00050 |
54313 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
180A>G |
Glu60Glu |
| M0006220 |
BHMMHFHN_00050 |
54472 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
21A>T |
Thr7Thr |
| M0006221 |
BHMMHFHN_00051 |
54699 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
93C>A |
Pro31Pro |
| M0006222 |
BHMMHFHN_00051 |
54771 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
165C>A |
Ala55Ala |
| M0006223 |
BHMMHFHN_00051 |
54834 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
228G>C |
Pro76Pro |
| M0006224 |
BHMMHFHN_00051 |
55008 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
402G>C |
Val134Val |
| M0006225 |
BHMMHFHN_00051 |
55542 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
936G>C |
Arg312Arg |
| M0006226 |
BHMMHFHN_00051 |
55554 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
948T>C |
Gly316Gly |
| M0006227 |
BHMMHFHN_00051 |
55623 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1017A>C |
Thr339Thr |
| M0006228 |
BHMMHFHN_00051 |
55656 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1050C>G |
Thr350Thr |
| M0006229 |
BHMMHFHN_00051 |
55680 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1074G>C |
Val358Val |
| M0006230 |
BHMMHFHN_00051 |
55914 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1308G>C |
Thr436Thr |
| M0006231 |
BHMMHFHN_00051 |
55926 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1320C>T |
Asp440Asp |
| M0006232 |
BHMMHFHN_00021 |
19779 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
273C>G |
Ala91Ala |
| M0006233 |
BHMMHFHN_00022 |
20108 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
2037G>C |
Ala679Ala |
| M0006234 |
BHMMHFHN_00027 |
25007 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
883C>T |
Leu295Leu |
| M0006235 |
BHMMHFHN_00030 |
28032 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
969A>C |
Gly323Gly |
| M0006236 |
BHMMHFHN_00015 |
16106 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
369T>G |
Leu123Leu |
| M0006237 |
BHMMHFHN_00015 |
16118 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
381C>G |
Leu127Leu |
| M0006238 |
BHMMHFHN_00015 |
16119 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
382G>T |
Ala128Ser |
| M0006239 |
BHMMHFHN_00015 |
16123 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
386A>G |
Lys129Arg |
| M0006240 |
BHMMHFHN_00015 |
16124 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
387A>G |
Lys129Lys |
| M0006241 |
BHMMHFHN_00016 |
16827 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
291C>T |
Tyr97Tyr |
| M0006242 |
BHMMHFHN_00016 |
16830 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
294C>T |
Gly98Gly |
| M0006243 |
BHMMHFHN_00016 |
16835 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
299C>A |
Thr100Asn |
| M0006244 |
BHMMHFHN_00016 |
16857 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
321C>G |
Ala107Ala |
| M0006245 |
BHMMHFHN_00016 |
16878 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
342A>C |
Ala114Ala |
| M0006246 |
BHMMHFHN_00016 |
16890 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
354C>G |
Pro118Pro |
| M0006247 |
BHMMHFHN_00014 |
14619 |
3 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
13C>G |
Leu5Val |
| M0006248 |
BHMMHFHN_00030 |
30916 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1916G>A |
None |
| M0006249 |
BHMMHFHN_00033 |
31913 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
702C>T |
Gly234Gly |
| M0006250 |
BHMMHFHN_00033 |
31916 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
699C>T |
Ser233Ser |
| M0006251 |
BHMMHFHN_00035 |
33798 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
597G>C |
Pro199Pro |
| M0006252 |
BHMMHFHN_00035 |
33810 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
585T>C |
Tyr195Tyr |
| M0006253 |
BHMMHFHN_00037 |
36021 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1383C>T |
Arg461Arg |
| M0006254 |
BHMMHFHN_00037 |
36858 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
546C>T |
Ala182Ala |
| M0006255 |
BHMMHFHN_00037 |
36903 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
501A>C |
Ala167Ala |
| M0006256 |
BHMMHFHN_00037 |
36942 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
462G>A |
Thr154Thr |
| M0006257 |
BHMMHFHN_00037 |
36990 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
414C>A |
Ala138Ala |
| M0006258 |
BHMMHFHN_00037 |
37032 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
372T>C |
Arg124Arg |
| M0006259 |
BHMMHFHN_00037 |
37101 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
303C>T |
Ala101Ala |
| M0006260 |
BHMMHFHN_00037 |
37152 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
252A>G |
Ala84Ala |
| M0006261 |
BHMMHFHN_00031 |
29495 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1278C>G |
Ala426Ala |
| M0006262 |
BHMMHFHN_00031 |
29505 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1268T>C |
Val423Ala |
| M0006263 |
BHMMHFHN_00031 |
29807 |
4 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
966C>T |
Tyr322Tyr |
| M0006264 |
BHMMHFHN_00045 |
48384 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
58C>T |
Leu20Leu |
| M0006265 |
BHMMHFHN_00045 |
48386 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
60G>T |
Leu20Leu |
| M0006266 |
BHMMHFHN_00041 |
49273 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4785G>C |
None |
| M0006267 |
BHMMHFHN_00041 |
49274 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4786C>A |
None |
| M0006268 |
BHMMHFHN_00041 |
49279 |
4 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4791A>G |
None |
| M0006269 |
BHMMHFHN_00047 |
49652 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
324C>T |
Gly108Gly |
| M0006270 |
BHMMHFHN_00048 |
50515 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
600C>T |
Val200Val |
| M0006271 |
BHMMHFHN_00048 |
50806 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
891C>G |
Ala297Ala |
| M0006272 |
BHMMHFHN_00048 |
51216 |
4 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1301C>T |
Thr434Met |
| M0006273 |
BHMMHFHN_00043 |
49737 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2202C>T |
None |
| M0006274 |
BHMMHFHN_00043 |
49749 |
3 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2214C>T |
None |
| M0006275 |
BHMMHFHN_00027 |
24798 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1092C>T |
Asn364Asn |
| M0006276 |
BHMMHFHN_00027 |
24807 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1083T>A |
Ile361Ile |
| M0006277 |
BHMMHFHN_00011 |
11643 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1335C>T |
Pro445Pro |
| M0006278 |
BHMMHFHN_00011 |
11646 |
3 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1338C>T |
Cys446Cys |
Analysis of virulence factors contributing to bacterial pathogenicity
This table presents virulence factors identified within the plasmid cluster.
Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.
| Gene Name |
vf_gene_id |
vf_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
vf_category |
gene_description |
condition |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
| Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
| Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
| Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
| Gene Name |
cazy_id |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
| BHMMHFHN_00031 |
AWK41767.1|GH13_3 |
72.4 |
3.92e-233 |
14 |
462 |
0.9239 |
0.9594 |
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 |
| BHMMHFHN_00031 |
2.A.3.1.7 |
71 |
7.6e-184 |
15 |
466 |
0.9300 |
0.9617 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.3 |
The Amino Acid-Polyamine-Organocation (APC) Family |