Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2534 |
Reference Plasmid |
1111525849773237_bin.12__k141_84883 |
Reference Plasmid Size |
22868 |
Reference Plasmid GC Content |
0.32 |
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 |
M0045805 |
PEGFCOMK_00009 |
9774 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
85G>A |
Asp29Asn |
M0045806 |
PEGFCOMK_00009 |
10061 |
63 |
Skin |
0.44 |
protein_coding |
missense_variant |
MODERATE |
372T>A |
Asp124Glu |
M0045807 |
PEGFCOMK_00009 |
10094 |
62 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
405G>A |
Gln135Gln |
M0045808 |
PEGFCOMK_00009 |
10136 |
65 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
447T>C |
Asn149Asn |
M0045809 |
PEGFCOMK_00009 |
10399 |
31 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
710A>G |
Lys237Arg |
M0045810 |
PEGFCOMK_00009 |
10406 |
22 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
717G>T |
Val239Val |
M0045811 |
PEGFCOMK_00009 |
10441 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
752T>C |
Leu251Ser |
M0045812 |
PEGFCOMK_00009 |
10646 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
957C>T |
Tyr319Tyr |
M0045813 |
PEGFCOMK_00009 |
10760 |
53 |
Skin |
0.37 |
protein_coding |
synonymous_variant |
LOW |
1071G>A |
Gln357Gln |
M0045814 |
PEGFCOMK_00009 |
10779 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1090T>C |
Leu364Leu |
M0045815 |
PEGFCOMK_00009 |
10868 |
58 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
1179A>T |
Ile393Ile |
M0045816 |
PEGFCOMK_00009 |
10911 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1222C>A |
Arg408Arg |
M0045817 |
PEGFCOMK_00009 |
11012 |
39 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1323C>T |
Pro441Pro |
M0045818 |
PEGFCOMK_00009 |
11064 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1375C>T |
His459Tyr |
M0045819 |
PEGFCOMK_00009 |
11619 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1930A>C |
Asn644His |
M0045820 |
PEGFCOMK_00007 |
11693 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3277C>T |
None |
M0045821 |
PEGFCOMK_00011 |
12391 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
135C>T |
Phe45Phe |
M0045822 |
PEGFCOMK_00013 |
13951 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
931G>A |
Asp311Asn |
M0045823 |
PEGFCOMK_00013 |
13960 |
27 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
922G>A |
Asp308Asn |
M0045824 |
PEGFCOMK_00013 |
14011 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
871A>G |
Thr291Ala |
M0045825 |
PEGFCOMK_00013 |
14033 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
849T>C |
His283His |
M0045826 |
PEGFCOMK_00013 |
14202 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
680T>A |
Met227Lys |
M0045827 |
PEGFCOMK_00013 |
14213 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
669C>T |
Phe223Phe |
M0045828 |
PEGFCOMK_00013 |
14266 |
38 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
616A>C |
Lys206Gln |
M0045829 |
PEGFCOMK_00013 |
14429 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
453A>T |
Ser151Ser |
M0045830 |
PEGFCOMK_00013 |
14450 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
432A>T |
Pro144Pro |
M0045831 |
PEGFCOMK_00013 |
14453 |
12 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
429A>T |
Glu143Asp |
M0045832 |
PEGFCOMK_00013 |
14455 |
12 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
427G>A |
Glu143Lys |
M0045833 |
PEGFCOMK_00013 |
14465 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
417A>G |
Gly139Gly |
M0045834 |
PEGFCOMK_00013 |
14544 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
338C>A |
Thr113Lys |
M0045835 |
PEGFCOMK_00013 |
14567 |
25 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
315A>G |
Glu105Glu |
M0045836 |
PEGFCOMK_00013 |
14582 |
32 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
300T>C |
Tyr100Tyr |
M0045837 |
PEGFCOMK_00013 |
14612 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
270T>C |
Ser90Ser |
M0045838 |
PEGFCOMK_00013 |
14666 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
216A>T |
Ile72Ile |
M0045839 |
PEGFCOMK_00013 |
14729 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
153A>G |
Thr51Thr |
M0045840 |
PEGFCOMK_00013 |
14846 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
36A>G |
Leu12Leu |
M0045841 |
PEGFCOMK_00010 |
14932 |
25 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2720G>A |
None |
M0045842 |
PEGFCOMK_00010 |
14943 |
25 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2731G>A |
None |
M0045843 |
PEGFCOMK_00010 |
14957 |
25 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2745T>A |
None |
M0045844 |
PEGFCOMK_00010 |
14961 |
13 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2749C>T |
None |
M0045845 |
PEGFCOMK_00010 |
14977 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2765G>A |
None |
M0045846 |
PEGFCOMK_00014 |
15052 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
933G>A |
Val311Val |
M0045847 |
PEGFCOMK_00014 |
15114 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
871C>G |
Gln291Glu |
M0045848 |
PEGFCOMK_00014 |
15124 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
861A>G |
Lys287Lys |
M0045849 |
PEGFCOMK_00014 |
15143 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
842G>A |
Gly281Asp |
M0045850 |
PEGFCOMK_00014 |
15144 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
841G>A |
Gly281Ser |
M0045851 |
PEGFCOMK_00014 |
15165 |
19 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
820A>T |
Ile274Leu |
M0045852 |
PEGFCOMK_00014 |
15217 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
768A>G |
Gly256Gly |
M0045853 |
PEGFCOMK_00014 |
15223 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
762T>C |
Asp254Asp |
M0045854 |
PEGFCOMK_00014 |
15331 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
654C>T |
Phe218Phe |
M0045855 |
PEGFCOMK_00014 |
15370 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
615G>C |
Ala205Ala |
M0045856 |
PEGFCOMK_00014 |
15382 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
603T>C |
Asn201Asn |
M0045857 |
PEGFCOMK_00014 |
15416 |
19 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
569G>A |
Arg190His |
M0045858 |
PEGFCOMK_00014 |
15447 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
538A>G |
Lys180Glu |
M0045859 |
PEGFCOMK_00014 |
15457 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
528T>A |
Ala176Ala |
M0045860 |
PEGFCOMK_00014 |
15487 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
498G>A |
Lys166Lys |
M0045861 |
PEGFCOMK_00014 |
15511 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
474T>C |
Gly158Gly |
M0045862 |
PEGFCOMK_00014 |
15568 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
417T>C |
Ile139Ile |
M0045863 |
PEGFCOMK_00014 |
15579 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
406T>C |
Leu136Leu |
M0045864 |
PEGFCOMK_00014 |
15592 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
393T>A |
Thr131Thr |
M0045865 |
PEGFCOMK_00014 |
15601 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
384T>A |
Pro128Pro |
M0045866 |
PEGFCOMK_00014 |
15648 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
337A>T |
Thr113Ser |
M0045867 |
PEGFCOMK_00014 |
15685 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
300A>C |
Ile100Ile |
M0045868 |
PEGFCOMK_00014 |
15692 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
293G>A |
Arg98Lys |
M0045869 |
PEGFCOMK_00014 |
15700 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
285A>T |
Leu95Leu |
M0045870 |
PEGFCOMK_00014 |
15706 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
279T>C |
Gly93Gly |
M0045871 |
PEGFCOMK_00014 |
15835 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
150A>G |
Arg50Arg |
M0045872 |
PEGFCOMK_00014 |
15966 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
19G>A |
Val7Ile |
M0045873 |
PEGFCOMK_00010 |
16006 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3794C>T |
None |
M0045874 |
PEGFCOMK_00010 |
16008 |
13 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3796T>A |
None |
M0045875 |
PEGFCOMK_00010 |
16018 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3806T>A |
None |
M0045876 |
PEGFCOMK_00010 |
16021 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3809C>T |
None |
M0045877 |
PEGFCOMK_00010 |
16026 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3814T>A |
None |
M0045878 |
PEGFCOMK_00010 |
16040 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3828T>C |
None |
M0045879 |
PEGFCOMK_00010 |
16054 |
24 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3842A>G |
None |
M0045880 |
PEGFCOMK_00010 |
16072 |
11 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3860T>C |
None |
M0045881 |
PEGFCOMK_00010 |
16101 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3889C>A |
None |
M0045882 |
PEGFCOMK_00015 |
16163 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
47C>G |
Thr16Ser |
M0045883 |
PEGFCOMK_00015 |
16202 |
27 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
86G>A |
Arg29Gln |
M0045884 |
PEGFCOMK_00015 |
16212 |
24 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
96A>G |
Glu32Glu |
M0045885 |
PEGFCOMK_00015 |
16224 |
24 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Tyr36Tyr |
M0045886 |
PEGFCOMK_00015 |
16257 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
141T>A |
Val47Val |
M0045887 |
PEGFCOMK_00015 |
16299 |
25 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
183T>A |
Ser61Ser |
M0045888 |
PEGFCOMK_00015 |
16314 |
25 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
198T>A |
Thr66Thr |
M0045889 |
PEGFCOMK_00015 |
16380 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
264G>A |
Glu88Glu |
M0045890 |
PEGFCOMK_00015 |
16434 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
318A>G |
Gly106Gly |
M0045891 |
PEGFCOMK_00015 |
16463 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
347C>A |
Ala116Glu |
M0045892 |
PEGFCOMK_00015 |
16468 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
352C>T |
Leu118Leu |
M0045893 |
PEGFCOMK_00015 |
16486 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
370G>A |
Glu124Lys |
M0045894 |
PEGFCOMK_00015 |
16546 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
430A>T |
Thr144Ser |
M0045895 |
PEGFCOMK_00015 |
16563 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
447T>C |
Phe149Phe |
M0045896 |
PEGFCOMK_00015 |
16578 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
462T>C |
Ala154Ala |
M0045897 |
PEGFCOMK_00015 |
16605 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
489A>G |
Gln163Gln |
M0045898 |
PEGFCOMK_00004 |
3845 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
541C>T |
Leu181Leu |
M0045899 |
PEGFCOMK_00004 |
4011 |
22 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
375G>A |
Ser125Ser |
M0045900 |
PEGFCOMK_00004 |
4160 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
226C>T |
Leu76Leu |
M0045901 |
PEGFCOMK_00004 |
4221 |
24 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
165C>A |
Val55Val |
M0045902 |
PEGFCOMK_00004 |
4374 |
21 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
12A>G |
Val4Val |
M0045903 |
PEGFCOMK_00004 |
4377 |
21 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
9A>G |
Ile3Met |
M0045904 |
PEGFCOMK_00005 |
4427 |
24 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
966A>T |
Ser322Ser |
M0045905 |
PEGFCOMK_00005 |
5156 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
237G>A |
Ala79Ala |
M0045906 |
PEGFCOMK_00005 |
5210 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
183G>A |
Glu61Glu |
M0045907 |
PEGFCOMK_00005 |
5264 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
129C>T |
His43His |
M0045908 |
PEGFCOMK_00006 |
5756 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
900C>T |
Asn300Asn |
M0045909 |
PEGFCOMK_00006 |
6301 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
355C>T |
Leu119Leu |
M0045910 |
PEGFCOMK_00007 |
6684 |
43 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
1733G>A |
Gly578Asp |
M0045911 |
PEGFCOMK_00007 |
6898 |
49 |
Skin |
0.34 |
protein_coding |
missense_variant |
MODERATE |
1519T>G |
Ser507Ala |
M0045912 |
PEGFCOMK_00007 |
6902 |
36 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1515A>G |
Gln505Gln |
M0045913 |
PEGFCOMK_00007 |
7160 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1257A>T |
Thr419Thr |
M0045914 |
PEGFCOMK_00007 |
7356 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1061C>T |
Ala354Val |
M0045915 |
PEGFCOMK_00007 |
7691 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
726T>G |
Asn242Lys |
M0045916 |
PEGFCOMK_00008 |
9108 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
525C>T |
Pro175Pro |
M0045917 |
PEGFCOMK_00008 |
9162 |
19 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
471C>T |
Cys157Cys |
M0045918 |
PEGFCOMK_00009 |
9920 |
33 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
231A>T |
Gly77Gly |
M0045919 |
PEGFCOMK_00009 |
9964 |
24 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
275C>T |
Thr92Ile |
M0045920 |
PEGFCOMK_00009 |
10054 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
365G>A |
Ser122Asn |
M0045921 |
PEGFCOMK_00009 |
10119 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
430G>A |
Asp144Asn |
M0045922 |
PEGFCOMK_00009 |
11332 |
14 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1643A>C |
Asn548Thr |
M0045923 |
PEGFCOMK_00009 |
11421 |
35 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
1732A>G |
Asn578Asp |
M0045924 |
PEGFCOMK_00009 |
11460 |
18 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1771T>G |
Ser591Ala |
M0045925 |
PEGFCOMK_00009 |
11558 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1869T>C |
Tyr623Tyr |
M0045926 |
PEGFCOMK_00009 |
11586 |
12 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1897G>A |
Asp633Asn |
M0045927 |
PEGFCOMK_00007 |
11671 |
16 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3255C>T |
None |
M0045928 |
PEGFCOMK_00010 |
11757 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
456T>C |
Asn152Asn |
M0045929 |
PEGFCOMK_00010 |
11943 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
270T>C |
Val90Val |
M0045930 |
PEGFCOMK_00010 |
11980 |
28 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
233A>G |
Asn78Ser |
M0045931 |
PEGFCOMK_00010 |
12003 |
18 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
210T>C |
Asp70Asp |
M0045932 |
PEGFCOMK_00010 |
12060 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
153A>T |
Ala51Ala |
M0045933 |
PEGFCOMK_00011 |
12322 |
21 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
204A>T |
Thr68Thr |
M0045934 |
PEGFCOMK_00011 |
12367 |
25 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
159G>C |
Val53Val |
M0045935 |
PEGFCOMK_00011 |
12397 |
25 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
129C>T |
Leu43Leu |
M0045936 |
PEGFCOMK_00012 |
12547 |
37 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
573T>C |
Arg191Arg |
M0045937 |
PEGFCOMK_00012 |
12595 |
36 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
525T>A |
Val175Val |
M0045938 |
PEGFCOMK_00012 |
12696 |
17 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
424G>A |
Ala142Thr |
M0045939 |
PEGFCOMK_00012 |
12709 |
22 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
411T>C |
Phe137Phe |
M0045940 |
PEGFCOMK_00012 |
12733 |
33 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
387T>C |
Leu129Leu |
M0045941 |
PEGFCOMK_00012 |
12748 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
372T>C |
Asn124Asn |
M0045942 |
PEGFCOMK_00012 |
12904 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
216C>A |
Ile72Ile |
M0045943 |
PEGFCOMK_00007 |
13175 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4759A>T |
None |
M0045944 |
PEGFCOMK_00007 |
13177 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4761T>A |
None |
M0045945 |
PEGFCOMK_00007 |
13212 |
25 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4796T>C |
None |
M0045946 |
PEGFCOMK_00007 |
13233 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4817A>T |
None |
M0045947 |
PEGFCOMK_00007 |
13250 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4834G>T |
None |
M0045948 |
PEGFCOMK_00007 |
13263 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4847T>A |
None |
M0045949 |
PEGFCOMK_00013 |
14269 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
613A>C |
Ser205Arg |
M0045950 |
PEGFCOMK_00013 |
14857 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
25T>C |
Ser9Pro |
M0045951 |
PEGFCOMK_00010 |
14911 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2699A>G |
None |
M0045952 |
PEGFCOMK_00010 |
14927 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2715A>G |
None |
M0045953 |
PEGFCOMK_00010 |
14937 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2725T>C |
None |
M0045954 |
PEGFCOMK_00010 |
14944 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2732T>C |
None |
M0045955 |
PEGFCOMK_00014 |
15751 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
234G>A |
Leu78Leu |
M0045956 |
PEGFCOMK_00014 |
15766 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
219G>A |
Thr73Thr |
M0045957 |
PEGFCOMK_00014 |
15778 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
207C>T |
Phe69Phe |
M0045958 |
PEGFCOMK_00014 |
15781 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
204G>T |
Pro68Pro |
M0045959 |
PEGFCOMK_00014 |
15799 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
186G>T |
Pro62Pro |
M0045960 |
PEGFCOMK_00014 |
15883 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
102T>C |
Asn34Asn |
M0045961 |
PEGFCOMK_00009 |
11033 |
35 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1344C>T |
Ile448Ile |
M0045962 |
PEGFCOMK_00009 |
11080 |
36 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
1391A>T |
Tyr464Phe |
M0045963 |
PEGFCOMK_00007 |
13253 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4837T>A |
None |
M0045964 |
PEGFCOMK_00007 |
13364 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4948T>C |
None |
M0045965 |
PEGFCOMK_00007 |
13397 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4981T>C |
None |
M0045966 |
PEGFCOMK_00013 |
14280 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
602A>G |
Lys201Arg |
M0045967 |
PEGFCOMK_00013 |
14296 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
586G>A |
Val196Ile |
M0045968 |
PEGFCOMK_00013 |
14314 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
568G>A |
Val190Ile |
M0045969 |
PEGFCOMK_00013 |
14712 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
170C>T |
Ala57Val |
M0045970 |
PEGFCOMK_00013 |
14861 |
22 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
21A>G |
Lys7Lys |
M0045971 |
PEGFCOMK_00007 |
8231 |
30 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
Tyr62Tyr |
M0045972 |
PEGFCOMK_00007 |
8255 |
27 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
162G>T |
Ala54Ala |
M0045973 |
PEGFCOMK_00007 |
8281 |
32 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
136A>G |
Asn46Asp |
M0045974 |
PEGFCOMK_00007 |
8305 |
26 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
112T>C |
Cys38Arg |
M0045975 |
PEGFCOMK_00008 |
8670 |
22 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
963C>T |
Gly321Gly |
M0045976 |
PEGFCOMK_00008 |
8679 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
954G>C |
Thr318Thr |
M0045977 |
PEGFCOMK_00008 |
8688 |
22 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
945C>A |
Ile315Ile |
M0045978 |
PEGFCOMK_00008 |
8697 |
26 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
936T>C |
Val312Val |
M0045979 |
PEGFCOMK_00008 |
8805 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
828A>T |
Ile276Ile |
M0045980 |
PEGFCOMK_00008 |
8946 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
687T>A |
Ile229Ile |
M0045981 |
PEGFCOMK_00008 |
9015 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
618A>T |
Gly206Gly |
M0045982 |
PEGFCOMK_00008 |
9132 |
26 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
501A>C |
Gly167Gly |
M0045983 |
PEGFCOMK_00008 |
9297 |
25 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
336T>A |
Ile112Ile |
M0045984 |
PEGFCOMK_00008 |
9609 |
18 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
24T>C |
Asn8Asn |
M0045985 |
PEGFCOMK_00009 |
9777 |
23 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
88C>T |
Pro30Ser |
M0045986 |
PEGFCOMK_00009 |
9779 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
90T>C |
Pro30Pro |
M0045987 |
PEGFCOMK_00009 |
9782 |
26 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
93T>G |
Asn31Lys |
M0045988 |
PEGFCOMK_00009 |
9815 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
126T>C |
Asp42Asp |
M0045989 |
PEGFCOMK_00009 |
9863 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
174G>A |
Glu58Glu |
M0045990 |
PEGFCOMK_00009 |
9875 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
186A>G |
Lys62Lys |
M0045991 |
PEGFCOMK_00009 |
9907 |
24 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
218A>G |
His73Arg |
M0045992 |
PEGFCOMK_00009 |
9959 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
270T>C |
Phe90Phe |
M0045993 |
PEGFCOMK_00009 |
10409 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
720T>A |
Phe240Leu |
M0045994 |
PEGFCOMK_00009 |
10470 |
12 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
781C>A |
Gln261Lys |
M0045995 |
PEGFCOMK_00009 |
10481 |
27 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
792C>T |
Pro264Pro |
M0045996 |
PEGFCOMK_00009 |
10539 |
14 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
850C>T |
His284Tyr |
M0045997 |
PEGFCOMK_00009 |
10594 |
30 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
905G>A |
Arg302Gln |
M0045998 |
PEGFCOMK_00009 |
10612 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
923A>G |
Lys308Arg |
M0045999 |
PEGFCOMK_00009 |
10622 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
933G>A |
Leu311Leu |
M0046000 |
PEGFCOMK_00009 |
10670 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
981G>T |
Thr327Thr |
M0046001 |
PEGFCOMK_00009 |
10704 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1015A>G |
Ile339Val |
M0046002 |
PEGFCOMK_00009 |
10733 |
27 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1044C>T |
Thr348Thr |
M0046003 |
PEGFCOMK_00009 |
10913 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1224A>T |
Arg408Arg |
M0046004 |
PEGFCOMK_00009 |
10958 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1269T>C |
Phe423Phe |
M0046005 |
PEGFCOMK_00009 |
11014 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1325A>T |
Tyr442Phe |
M0046006 |
PEGFCOMK_00009 |
11292 |
12 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1603A>T |
Thr535Ser |
M0046007 |
PEGFCOMK_00009 |
11294 |
35 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1605C>T |
Thr535Thr |
M0046008 |
PEGFCOMK_00009 |
11298 |
35 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1609A>C |
Arg537Arg |
M0046009 |
PEGFCOMK_00009 |
11299 |
35 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
1610G>A |
Arg537Lys |
M0046010 |
PEGFCOMK_00009 |
11303 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1614T>C |
His538His |
M0046011 |
PEGFCOMK_00010 |
11734 |
15 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
479A>C |
Asn160Thr |
M0046012 |
PEGFCOMK_00010 |
11844 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
369A>G |
Gln123Gln |
M0046013 |
PEGFCOMK_00010 |
11979 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Asn78Asn |
M0046014 |
PEGFCOMK_00010 |
12015 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
198T>C |
Gly66Gly |
M0046015 |
PEGFCOMK_00010 |
12033 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
180A>G |
Gly60Gly |
M0046016 |
PEGFCOMK_00010 |
12186 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
27A>G |
Lys9Lys |
M0046017 |
PEGFCOMK_00012 |
12727 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
393C>T |
Asn131Asn |
M0046018 |
PEGFCOMK_00007 |
13306 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4890A>G |
None |
M0046019 |
PEGFCOMK_00013 |
13920 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
962T>C |
Ile321Thr |
M0046020 |
PEGFCOMK_00013 |
14134 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
748T>A |
Ser250Thr |
M0046021 |
PEGFCOMK_00013 |
14362 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
520T>C |
Leu174Leu |
M0046022 |
PEGFCOMK_00013 |
14423 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
459A>G |
Leu153Leu |
M0046023 |
PEGFCOMK_00013 |
14527 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
355C>G |
Gln119Glu |
M0046024 |
PEGFCOMK_00013 |
14756 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
126G>A |
Val42Val |
M0046025 |
PEGFCOMK_00013 |
14777 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
105C>T |
Val35Val |
M0046026 |
PEGFCOMK_00013 |
14801 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
81T>C |
His27His |
M0046027 |
PEGFCOMK_00010 |
14953 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2741T>C |
None |
M0046028 |
PEGFCOMK_00010 |
14967 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2755A>T |
None |
M0046029 |
PEGFCOMK_00010 |
14972 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2760G>T |
None |
M0046030 |
PEGFCOMK_00010 |
14976 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2764C>T |
None |
M0046031 |
PEGFCOMK_00014 |
14987 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
998G>A |
Ser333Asn |
M0046032 |
PEGFCOMK_00014 |
15193 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
792T>A |
Ile264Ile |
M0046033 |
PEGFCOMK_00008 |
8424 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1209G>A |
Glu403Glu |
M0046034 |
PEGFCOMK_00009 |
10392 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
703C>T |
His235Tyr |
M0046035 |
PEGFCOMK_00012 |
12721 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
399G>A |
Lys133Lys |
M0046036 |
PEGFCOMK_00007 |
13384 |
16 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4968T>C |
None |
M0046037 |
PEGFCOMK_00008 |
13426 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3794C>G |
None |
M0046038 |
PEGFCOMK_00008 |
13468 |
22 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3836T>C |
None |
M0046039 |
PEGFCOMK_00002 |
5537 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3442T>C |
None |
M0046040 |
PEGFCOMK_00002 |
5560 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3465C>T |
None |
M0046041 |
PEGFCOMK_00002 |
5579 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3484C>A |
None |
M0046042 |
PEGFCOMK_00006 |
5621 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1035C>T |
Phe345Phe |
M0046043 |
PEGFCOMK_00006 |
5774 |
19 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
882G>A |
Leu294Leu |
M0046044 |
PEGFCOMK_00006 |
6095 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
561G>A |
Lys187Lys |
M0046045 |
PEGFCOMK_00006 |
6110 |
18 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
546C>T |
Asn182Asn |
M0046046 |
PEGFCOMK_00006 |
6111 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
545A>G |
Asn182Ser |
M0046047 |
PEGFCOMK_00007 |
6755 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1662T>C |
Thr554Thr |
M0046048 |
PEGFCOMK_00007 |
7310 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1107T>A |
Pro369Pro |
M0046049 |
PEGFCOMK_00007 |
7349 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1068T>C |
Asp356Asp |
M0046050 |
PEGFCOMK_00007 |
7377 |
25 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1040A>T |
Tyr347Phe |
M0046051 |
PEGFCOMK_00007 |
7991 |
24 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
426T>A |
Ile142Ile |
M0046052 |
PEGFCOMK_00007 |
8206 |
15 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
211A>G |
Lys71Glu |
M0046053 |
PEGFCOMK_00008 |
13511 |
16 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3879T>C |
None |
M0046054 |
PEGFCOMK_00008 |
13525 |
16 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3893C>A |
None |
M0046055 |
PEGFCOMK_00007 |
8182 |
28 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
235G>A |
Val79Ile |
M0046056 |
PEGFCOMK_00007 |
8304 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
113G>A |
Cys38Tyr |
M0046057 |
PEGFCOMK_00007 |
8306 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
111G>T |
Thr37Thr |
M0046058 |
PEGFCOMK_00007 |
8323 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
94C>T |
Arg32Cys |
M0046059 |
PEGFCOMK_00008 |
9522 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
111T>G |
Gly37Gly |
M0046060 |
PEGFCOMK_00009 |
9885 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
196C>T |
His66Tyr |
M0046061 |
PEGFCOMK_00009 |
9894 |
12 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
205A>G |
Ile69Val |
M0046062 |
PEGFCOMK_00009 |
9911 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
222G>T |
Gln74His |
M0046063 |
PEGFCOMK_00009 |
9935 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
246G>T |
Val82Val |
M0046064 |
PEGFCOMK_00009 |
9968 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
279T>A |
Ser93Ser |
M0046065 |
PEGFCOMK_00009 |
9986 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
297A>T |
Ala99Ala |
M0046066 |
PEGFCOMK_00009 |
10017 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
328A>C |
Ile110Leu |
M0046067 |
PEGFCOMK_00009 |
10025 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
336T>C |
Val112Val |
M0046068 |
PEGFCOMK_00009 |
10034 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
345T>A |
Pro115Pro |
M0046069 |
PEGFCOMK_00009 |
10046 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
357G>A |
Lys119Lys |
M0046070 |
PEGFCOMK_00009 |
10098 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
409T>C |
Leu137Leu |
M0046071 |
PEGFCOMK_00009 |
10208 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
519G>A |
Gln173Gln |
M0046072 |
PEGFCOMK_00009 |
10212 |
15 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
523T>C |
Tyr175His |
M0046073 |
PEGFCOMK_00009 |
10245 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
556A>C |
Asn186His |
M0046074 |
PEGFCOMK_00009 |
10283 |
18 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
594C>T |
Ser198Ser |
M0046075 |
PEGFCOMK_00009 |
10304 |
18 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
615T>C |
Gly205Gly |
M0046076 |
PEGFCOMK_00009 |
10310 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
621C>T |
Pro207Pro |
M0046077 |
PEGFCOMK_00009 |
10350 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
661G>A |
Glu221Lys |
M0046078 |
PEGFCOMK_00008 |
13610 |
22 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3978C>A |
None |
M0046079 |
PEGFCOMK_00008 |
13616 |
19 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3984A>T |
None |
M0046080 |
PEGFCOMK_00008 |
13729 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4097T>C |
None |
M0046081 |
PEGFCOMK_00008 |
13731 |
11 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4099T>C |
None |
M0046082 |
PEGFCOMK_00008 |
13753 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4121C>T |
None |
M0046083 |
PEGFCOMK_00008 |
13754 |
11 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4122T>G |
None |
M0046084 |
PEGFCOMK_00008 |
13791 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4159G>A |
None |
M0046085 |
PEGFCOMK_00008 |
13827 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4195C>A |
None |
M0046086 |
PEGFCOMK_00008 |
13863 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4231C>T |
None |
M0046087 |
PEGFCOMK_00008 |
13497 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3865G>A |
None |
M0046088 |
PEGFCOMK_00013 |
14764 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
118A>G |
Ile40Val |
M0046089 |
PEGFCOMK_00014 |
15147 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
838G>A |
Asp280Asn |
M0046090 |
PEGFCOMK_00014 |
15407 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
578C>T |
Ala193Val |
M0046091 |
PEGFCOMK_00015 |
16192 |
18 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
76G>A |
Glu26Lys |
M0046092 |
PEGFCOMK_00015 |
16266 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
150T>C |
Val50Val |
M0046093 |
PEGFCOMK_00015 |
16275 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
159C>T |
Ser53Ser |
M0046094 |
PEGFCOMK_00015 |
16281 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
165C>T |
Pro55Pro |
M0046095 |
PEGFCOMK_00015 |
16510 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
394A>G |
Ile132Val |
M0046096 |
PEGFCOMK_00015 |
17044 |
15 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
928A>C |
Ile310Leu |
M0046097 |
PEGFCOMK_00015 |
17087 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
971T>C |
Leu324Ser |
M0046098 |
PEGFCOMK_00016 |
17305 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
781T>C |
Phe261Leu |
M0046099 |
PEGFCOMK_00016 |
17329 |
17 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
757A>G |
Thr253Ala |
M0046100 |
PEGFCOMK_00016 |
17404 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
682G>C |
Glu228Gln |
M0046101 |
PEGFCOMK_00016 |
17446 |
14 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
640T>A |
Cys214Ser |
M0046102 |
PEGFCOMK_00016 |
17507 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
579G>A |
Gln193Gln |
M0046103 |
PEGFCOMK_00016 |
17790 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
296A>C |
Asn99Thr |
M0046104 |
PEGFCOMK_00016 |
17806 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
280A>T |
Ser94Cys |
M0046105 |
PEGFCOMK_00016 |
17839 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
247A>C |
Ser83Arg |
M0046106 |
PEGFCOMK_00016 |
17861 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
225A>G |
Glu75Glu |
M0046107 |
PEGFCOMK_00016 |
17918 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
168C>T |
Ser56Ser |
M0046108 |
PEGFCOMK_00016 |
18032 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
54A>C |
Leu18Phe |
M0046109 |
PEGFCOMK_00013 |
18329 |
18 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3448G>T |
None |
M0046110 |
PEGFCOMK_00017 |
19052 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
717C>T |
Asp239Asp |
M0046111 |
PEGFCOMK_00017 |
19144 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
625A>G |
Lys209Glu |
M0046112 |
PEGFCOMK_00018 |
19790 |
14 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
849A>C |
Lys283Asn |
M0046113 |
PEGFCOMK_00018 |
19817 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
822A>T |
Ala274Ala |
M0046114 |
PEGFCOMK_00018 |
19820 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
819A>G |
Ala273Ala |
M0046115 |
PEGFCOMK_00018 |
19978 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
661A>G |
Thr221Ala |
M0046116 |
PEGFCOMK_00006 |
6449 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
207T>C |
Asp69Asp |
M0046117 |
PEGFCOMK_00006 |
6450 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
206A>G |
Asp69Gly |
M0046118 |
PEGFCOMK_00006 |
6473 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
183C>T |
Asn61Asn |
M0046119 |
PEGFCOMK_00006 |
6500 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
156T>A |
Thr52Thr |
M0046120 |
PEGFCOMK_00006 |
6534 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
122G>A |
Arg41His |
M0046121 |
PEGFCOMK_00006 |
6575 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
81C>T |
Ile27Ile |
M0046122 |
PEGFCOMK_00006 |
6578 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
78T>A |
His26Gln |
M0046123 |
PEGFCOMK_00006 |
6582 |
15 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
74G>A |
Arg25Lys |
M0046124 |
PEGFCOMK_00006 |
6586 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
70C>T |
Arg24Cys |
M0046125 |
PEGFCOMK_00008 |
8582 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1051A>G |
Ile351Val |
M0046126 |
PEGFCOMK_00008 |
9249 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
384A>G |
Pro128Pro |
M0046127 |
PEGFCOMK_00008 |
9273 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
360C>G |
Gly120Gly |
M0046128 |
PEGFCOMK_00008 |
9316 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
317G>C |
Ser106Thr |
M0046129 |
PEGFCOMK_00008 |
9330 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
303T>A |
Thr101Thr |
M0046130 |
PEGFCOMK_00008 |
9357 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
276A>C |
Ile92Ile |
M0046131 |
PEGFCOMK_00008 |
9370 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
263C>G |
Thr88Ser |
M0046132 |
PEGFCOMK_00008 |
9381 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
252G>T |
Arg84Arg |
M0046133 |
PEGFCOMK_00008 |
9390 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
243T>C |
Leu81Leu |
M0046134 |
PEGFCOMK_00008 |
9393 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
240G>T |
Gly80Gly |
M0046135 |
PEGFCOMK_00009 |
11225 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1536T>A |
Asn512Lys |
M0046136 |
PEGFCOMK_00014 |
15807 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
178G>A |
Val60Ile |
M0046137 |
PEGFCOMK_00010 |
16086 |
16 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3874C>G |
None |
M0046138 |
PEGFCOMK_00015 |
16840 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
724G>A |
Ala242Thr |
M0046139 |
PEGFCOMK_00016 |
17226 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
860G>A |
Gly287Glu |
M0046140 |
PEGFCOMK_00002 |
941 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1155T>C |
Phe385Phe |
M0046141 |
PEGFCOMK_00002 |
1858 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
238G>A |
Ala80Thr |
M0046142 |
PEGFCOMK_00002 |
2278 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-183T>A |
None |
M0046143 |
PEGFCOMK_00002 |
2289 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-194C>T |
None |
M0046144 |
PEGFCOMK_00002 |
2309 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-214C>T |
None |
M0046145 |
PEGFCOMK_00002 |
2369 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-274G>A |
None |
M0046146 |
PEGFCOMK_00002 |
2370 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-275C>T |
None |
M0046147 |
PEGFCOMK_00003 |
2419 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
849T>C |
Tyr283Tyr |
M0046148 |
PEGFCOMK_00003 |
2560 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
708C>T |
Gly236Gly |
M0046149 |
PEGFCOMK_00003 |
2614 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
654G>A |
Gly218Gly |
M0046150 |
PEGFCOMK_00003 |
2623 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
645G>A |
Ala215Ala |
M0046151 |
PEGFCOMK_00003 |
2632 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
636T>G |
Ala212Ala |
M0046152 |
PEGFCOMK_00003 |
2635 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
633T>C |
Gly211Gly |
M0046153 |
PEGFCOMK_00003 |
2666 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
602T>C |
Ile201Thr |
M0046154 |
PEGFCOMK_00003 |
2692 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
576G>A |
Gly192Gly |
M0046155 |
PEGFCOMK_00003 |
2818 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
450C>T |
Tyr150Tyr |
M0046156 |
PEGFCOMK_00003 |
2833 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
435G>A |
Leu145Leu |
M0046157 |
PEGFCOMK_00003 |
2844 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
424T>C |
Leu142Leu |
M0046158 |
PEGFCOMK_00003 |
2914 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
354G>T |
Ala118Ala |
M0046159 |
PEGFCOMK_00003 |
2959 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
309A>T |
Ser103Ser |
M0046160 |
PEGFCOMK_00003 |
3037 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
231A>G |
Ser77Ser |
M0046161 |
PEGFCOMK_00003 |
3058 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
210G>A |
Met70Ile |
M0046162 |
PEGFCOMK_00003 |
3103 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
165T>C |
Pro55Pro |
M0046163 |
PEGFCOMK_00003 |
3109 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
159T>C |
Ala53Ala |
M0046164 |
PEGFCOMK_00003 |
3177 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
91T>A |
Leu31Ile |
M0046165 |
PEGFCOMK_00003 |
3232 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
36T>C |
Phe12Phe |
M0046166 |
PEGFCOMK_00002 |
3283 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1188A>T |
None |
M0046167 |
PEGFCOMK_00004 |
3528 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
858T>C |
Asn286Asn |
M0046168 |
PEGFCOMK_00004 |
3573 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
813A>T |
Val271Val |
M0046169 |
PEGFCOMK_00004 |
3588 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
798G>T |
Gly266Gly |
M0046170 |
PEGFCOMK_00004 |
3908 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
478T>C |
Leu160Leu |
M0046171 |
PEGFCOMK_00004 |
3923 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
463A>C |
Ile155Leu |
M0046172 |
PEGFCOMK_00004 |
3951 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
435T>C |
Val145Val |
M0046173 |
PEGFCOMK_00004 |
4014 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
372A>G |
Pro124Pro |
M0046174 |
PEGFCOMK_00004 |
4035 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
351A>T |
Val117Val |
M0046175 |
PEGFCOMK_00004 |
4053 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
333T>C |
Gly111Gly |
M0046176 |
PEGFCOMK_00004 |
4092 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
294T>C |
Asn98Asn |
M0046177 |
PEGFCOMK_00004 |
4107 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
279A>G |
Gln93Gln |
M0046178 |
PEGFCOMK_00004 |
4154 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
232G>A |
Gly78Ser |
M0046179 |
PEGFCOMK_00004 |
4158 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Leu76Leu |
M0046180 |
PEGFCOMK_00004 |
4200 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
186G>A |
Lys62Lys |
M0046181 |
PEGFCOMK_00004 |
4242 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
144T>G |
Phe48Leu |
M0046182 |
PEGFCOMK_00005 |
4460 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
933A>T |
Ser311Ser |
M0046183 |
PEGFCOMK_00005 |
4526 |
24 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
867A>G |
Val289Val |
M0046184 |
PEGFCOMK_00005 |
4667 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
726A>G |
Gly242Gly |
M0046185 |
PEGFCOMK_00005 |
4766 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
627T>C |
His209His |
M0046186 |
PEGFCOMK_00005 |
4812 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
581A>T |
Gln194Leu |
M0046187 |
PEGFCOMK_00005 |
4907 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
486A>G |
Lys162Lys |
M0046188 |
PEGFCOMK_00005 |
5048 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
345T>C |
Leu115Leu |
M0046189 |
PEGFCOMK_00005 |
5078 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
315G>A |
Lys105Lys |
M0046190 |
PEGFCOMK_00005 |
5114 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
279T>C |
Asp93Asp |
M0046191 |
PEGFCOMK_00005 |
5316 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
77G>A |
Ser26Asn |
M0046192 |
PEGFCOMK_00002 |
5395 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3300T>A |
None |
M0046193 |
PEGFCOMK_00006 |
5702 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
954A>G |
Ala318Ala |
M0046194 |
PEGFCOMK_00006 |
5735 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
921T>A |
Gly307Gly |
M0046195 |
PEGFCOMK_00006 |
5741 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
915A>G |
Gln305Gln |
M0046196 |
PEGFCOMK_00006 |
5750 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
906T>C |
Asp302Asp |
M0046197 |
PEGFCOMK_00006 |
5780 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
876T>C |
Asp292Asp |
M0046198 |
PEGFCOMK_00006 |
5812 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
844A>G |
Asn282Asp |
M0046199 |
PEGFCOMK_00006 |
5834 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
822T>C |
Ile274Ile |
M0046200 |
PEGFCOMK_00006 |
5840 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
816G>T |
Thr272Thr |
M0046201 |
PEGFCOMK_00006 |
5861 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
795A>T |
Val265Val |
M0046202 |
PEGFCOMK_00006 |
5903 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
753T>C |
Arg251Arg |
M0046203 |
PEGFCOMK_00006 |
5915 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
741G>A |
Glu247Glu |
M0046204 |
PEGFCOMK_00006 |
6005 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
651G>A |
Glu217Glu |
M0046205 |
PEGFCOMK_00006 |
6121 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
535A>G |
Asn179Asp |
M0046206 |
PEGFCOMK_00006 |
6128 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
528C>T |
Phe176Phe |
M0046207 |
PEGFCOMK_00006 |
6225 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
431G>A |
Arg144Lys |
M0046208 |
PEGFCOMK_00006 |
6232 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
424G>A |
Val142Ile |
M0046209 |
PEGFCOMK_00006 |
6239 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
417T>A |
Val139Val |
M0046210 |
PEGFCOMK_00006 |
6245 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
411T>C |
Arg137Arg |
M0046211 |
PEGFCOMK_00006 |
6248 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
408G>A |
Val136Val |
M0046212 |
PEGFCOMK_00006 |
6326 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
330A>T |
Ser110Ser |
M0046213 |
PEGFCOMK_00002 |
6657 |
15 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4562G>A |
None |
M0046214 |
PEGFCOMK_00007 |
6677 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1740A>G |
Pro580Pro |
M0046215 |
PEGFCOMK_00007 |
6772 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1645A>T |
Ile549Leu |
M0046216 |
PEGFCOMK_00007 |
6839 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1578A>G |
Glu526Glu |
M0046217 |
PEGFCOMK_00007 |
6899 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1518A>G |
Leu506Leu |
M0046218 |
PEGFCOMK_00007 |
6914 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1503T>G |
Val501Val |
M0046219 |
PEGFCOMK_00007 |
6944 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1473A>G |
Glu491Glu |
M0046220 |
PEGFCOMK_00007 |
7100 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1317A>G |
Ala439Ala |
M0046221 |
PEGFCOMK_00007 |
7142 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1275G>A |
Pro425Pro |
M0046222 |
PEGFCOMK_00007 |
7168 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1249A>G |
Ile417Val |
M0046223 |
PEGFCOMK_00007 |
7205 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1212T>C |
Asn404Asn |
M0046224 |
PEGFCOMK_00007 |
7241 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1176G>T |
Gln392His |
M0046225 |
PEGFCOMK_00007 |
7289 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1128T>C |
Cys376Cys |
M0046226 |
PEGFCOMK_00007 |
7292 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1125T>G |
Gly375Gly |
M0046227 |
PEGFCOMK_00007 |
7325 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1092C>T |
Ile364Ile |
M0046228 |
PEGFCOMK_00007 |
7436 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
981C>T |
Ser327Ser |
M0046229 |
PEGFCOMK_00007 |
7483 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
934G>A |
Val312Ile |
M0046230 |
PEGFCOMK_00007 |
7517 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
900G>A |
Val300Val |
M0046231 |
PEGFCOMK_00007 |
7530 |
12 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
887C>A |
Thr296Lys |
M0046232 |
PEGFCOMK_00007 |
7571 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
846C>T |
Ser282Ser |
M0046233 |
PEGFCOMK_00007 |
7684 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
733G>A |
Asp245Asn |
M0046234 |
PEGFCOMK_00007 |
7773 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
644A>G |
Asp215Gly |
M0046235 |
PEGFCOMK_00007 |
7811 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
606T>A |
Leu202Leu |
M0046236 |
PEGFCOMK_00007 |
7958 |
12 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
459T>G |
Ile153Met |
M0046237 |
PEGFCOMK_00007 |
8008 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
409G>A |
Asp137Asn |
M0046238 |
PEGFCOMK_00007 |
8099 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
318A>T |
Ile106Ile |
M0046239 |
PEGFCOMK_00007 |
8279 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
138T>G |
Asn46Lys |
M0046240 |
PEGFCOMK_00007 |
8288 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
129T>A |
Phe43Leu |
M0046241 |
PEGFCOMK_00007 |
8345 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
72A>G |
Glu24Glu |
M0046242 |
PEGFCOMK_00008 |
8465 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1168C>A |
Leu390Ile |
M0046243 |
PEGFCOMK_00008 |
8475 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1158C>T |
Ile386Ile |
M0046244 |
PEGFCOMK_00008 |
8733 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
900A>G |
Ile300Met |
M0046245 |
PEGFCOMK_00008 |
8742 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
891A>G |
Leu297Leu |
M0046246 |
PEGFCOMK_00008 |
8808 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
825A>G |
Thr275Thr |
M0046247 |
PEGFCOMK_00008 |
8910 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
723C>T |
Tyr241Tyr |
M0046248 |
PEGFCOMK_00008 |
9032 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
601T>G |
Leu201Val |
M0046249 |
PEGFCOMK_00008 |
9138 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
495A>G |
Ala165Ala |
M0046250 |
PEGFCOMK_00008 |
9147 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
486A>T |
Pro162Pro |
M0046251 |
PEGFCOMK_00008 |
9474 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
159T>C |
Gly53Gly |
M0046252 |
PEGFCOMK_00008 |
9477 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
156G>A |
Leu52Leu |
M0046253 |
PEGFCOMK_00009 |
9743 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
54A>G |
Glu18Glu |
M0046254 |
PEGFCOMK_00009 |
9770 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
81T>A |
His27Gln |
M0046255 |
PEGFCOMK_00009 |
10124 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
435A>G |
Glu145Glu |
M0046256 |
PEGFCOMK_00009 |
10145 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
456C>T |
Ser152Ser |
M0046257 |
PEGFCOMK_00009 |
10146 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
457G>A |
Val153Ile |
M0046258 |
PEGFCOMK_00009 |
10211 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
522C>T |
His174His |
M0046259 |
PEGFCOMK_00009 |
10296 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
607A>G |
Ile203Val |
M0046260 |
PEGFCOMK_00009 |
10351 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
662A>G |
Glu221Gly |
M0046261 |
PEGFCOMK_00009 |
10459 |
15 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
770T>A |
Val257Asp |
M0046262 |
PEGFCOMK_00009 |
10607 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
918T>C |
Asn306Asn |
M0046263 |
PEGFCOMK_00009 |
10637 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
948G>A |
Ser316Ser |
M0046264 |
PEGFCOMK_00009 |
10652 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
963C>T |
Ala321Ala |
M0046265 |
PEGFCOMK_00009 |
10703 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1014C>T |
His338His |
M0046266 |
PEGFCOMK_00009 |
10709 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1020G>A |
Lys340Lys |
M0046267 |
PEGFCOMK_00009 |
10715 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1026G>A |
Ser342Ser |
M0046268 |
PEGFCOMK_00009 |
10724 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1035A>G |
Val345Val |
M0046269 |
PEGFCOMK_00009 |
10766 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1077A>G |
Thr359Thr |
M0046270 |
PEGFCOMK_00009 |
10787 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1098G>T |
Thr366Thr |
M0046271 |
PEGFCOMK_00009 |
10799 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1110A>G |
Arg370Arg |
M0046272 |
PEGFCOMK_00009 |
10831 |
15 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1142A>G |
His381Arg |
M0046273 |
PEGFCOMK_00009 |
10896 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1207G>T |
Ala403Ser |
M0046274 |
PEGFCOMK_00009 |
11147 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1458T>C |
Leu486Leu |
M0046275 |
PEGFCOMK_00009 |
11217 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1528T>G |
Ser510Ala |
M0046276 |
PEGFCOMK_00009 |
11223 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1534A>G |
Asn512Asp |
M0046277 |
PEGFCOMK_00007 |
12247 |
19 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3831A>G |
None |
M0046278 |
PEGFCOMK_00007 |
12260 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3844C>T |
None |
M0046279 |
PEGFCOMK_00012 |
12843 |
19 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
277A>G |
Asn93Asp |
M0046280 |
PEGFCOMK_00007 |
13202 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4786C>A |
None |
M0046281 |
PEGFCOMK_00007 |
13209 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4793C>T |
None |
M0046282 |
PEGFCOMK_00014 |
15126 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
859A>G |
Lys287Glu |
M0046283 |
PEGFCOMK_00009 |
10955 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1266A>G |
Gln422Gln |
M0046284 |
PEGFCOMK_00009 |
11494 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1805C>T |
Thr602Ile |
M0046285 |
PEGFCOMK_00007 |
7611 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
806C>T |
Ala269Val |
M0046286 |
PEGFCOMK_00008 |
9608 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
25G>A |
Glu9Lys |
M0046287 |
PEGFCOMK_00009 |
11243 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1554C>T |
Asp518Asp |
M0046288 |
PEGFCOMK_00009 |
11249 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1560A>G |
Glu520Glu |
M0046289 |
PEGFCOMK_00009 |
11290 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1601T>A |
Phe534Tyr |
M0046290 |
PEGFCOMK_00005 |
4412 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
981A>C |
Lys327Asn |
M0046291 |
PEGFCOMK_00005 |
4595 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
798A>G |
Lys266Lys |
M0046292 |
PEGFCOMK_00005 |
5153 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
240T>C |
Asp80Asp |
M0046293 |
PEGFCOMK_00006 |
5867 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
789T>C |
Ala263Ala |
M0046294 |
PEGFCOMK_00006 |
6650 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
6G>A |
Ala2Ala |
M0046295 |
PEGFCOMK_00007 |
6761 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1656G>A |
Gly552Gly |
M0046296 |
PEGFCOMK_00007 |
6951 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1466C>A |
Thr489Asn |
M0046297 |
PEGFCOMK_00007 |
7460 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
957G>A |
Thr319Thr |
M0046298 |
PEGFCOMK_00007 |
7541 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
876T>C |
Asp292Asp |
M0046299 |
PEGFCOMK_00007 |
7573 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
844T>G |
Ser282Ala |
M0046300 |
PEGFCOMK_00007 |
7589 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
828A>G |
Thr276Thr |
M0046301 |
PEGFCOMK_00007 |
7641 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
776C>T |
Thr259Ile |
M0046302 |
PEGFCOMK_00007 |
7645 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
772C>T |
His258Tyr |
M0046303 |
PEGFCOMK_00007 |
7652 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
765G>A |
Gln255Gln |
M0046304 |
PEGFCOMK_00007 |
7673 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
744G>A |
Val248Val |
M0046305 |
PEGFCOMK_00007 |
7675 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
742G>T |
Val248Leu |
M0046306 |
PEGFCOMK_00007 |
7692 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
725A>G |
Asn242Ser |
M0046307 |
PEGFCOMK_00007 |
7754 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
663A>G |
Leu221Leu |
M0046308 |
PEGFCOMK_00007 |
7766 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
651A>G |
Gln217Gln |
M0046309 |
PEGFCOMK_00007 |
7847 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
570A>G |
Pro190Pro |
M0046310 |
PEGFCOMK_00007 |
7856 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
561T>A |
Leu187Leu |
M0046311 |
PEGFCOMK_00007 |
7859 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
558A>G |
Lys186Lys |
M0046312 |
PEGFCOMK_00007 |
7862 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
555G>A |
Leu185Leu |
M0046313 |
PEGFCOMK_00007 |
7864 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
553T>C |
Leu185Leu |
M0046314 |
PEGFCOMK_00007 |
7877 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
540C>T |
Leu180Leu |
M0046315 |
PEGFCOMK_00007 |
7910 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
507A>C |
Pro169Pro |
M0046316 |
PEGFCOMK_00007 |
7931 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
486T>C |
Ser162Ser |
M0046317 |
PEGFCOMK_00007 |
7982 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
435G>A |
Leu145Leu |
M0046318 |
PEGFCOMK_00007 |
8012 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
405A>G |
Leu135Leu |
M0046319 |
PEGFCOMK_00007 |
8069 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
Tyr116Tyr |
M0046320 |
PEGFCOMK_00007 |
8207 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
210A>G |
Leu70Leu |
M0046321 |
PEGFCOMK_00007 |
8224 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
193A>T |
Thr65Ser |
M0046322 |
PEGFCOMK_00008 |
8778 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
855G>A |
Leu285Leu |
M0046323 |
PEGFCOMK_00008 |
8889 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
744A>G |
Leu248Leu |
M0046324 |
PEGFCOMK_00008 |
8937 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
696A>T |
Ile232Ile |
M0046325 |
PEGFCOMK_00008 |
8943 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
690G>C |
Thr230Thr |
M0046326 |
PEGFCOMK_00008 |
8976 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
657A>G |
Lys219Lys |
M0046327 |
PEGFCOMK_00008 |
9016 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
617G>A |
Gly206Glu |
M0046328 |
PEGFCOMK_00008 |
9050 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
583A>G |
Ile195Val |
M0046329 |
PEGFCOMK_00008 |
9069 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
564A>G |
Ala188Ala |
M0046330 |
PEGFCOMK_00008 |
9117 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
516C>T |
Tyr172Tyr |
M0046331 |
PEGFCOMK_00005 |
9678 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4286A>T |
None |
M0046332 |
PEGFCOMK_00009 |
9753 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
64T>C |
Tyr22His |
M0046333 |
PEGFCOMK_00009 |
9828 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
139G>A |
Val47Ile |
M0046334 |
PEGFCOMK_00009 |
10458 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
769G>A |
Val257Ile |
M0046335 |
PEGFCOMK_00009 |
10544 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
855A>G |
Leu285Leu |
M0046336 |
PEGFCOMK_00009 |
10566 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
877A>G |
Ile293Val |
M0046337 |
PEGFCOMK_00009 |
10871 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1182C>T |
His394His |
M0046338 |
PEGFCOMK_00009 |
10879 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1190A>G |
Asn397Ser |
M0046339 |
PEGFCOMK_00009 |
11006 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1317C>A |
Thr439Thr |
M0046340 |
PEGFCOMK_00009 |
11021 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1332T>C |
Thr444Thr |
M0046341 |
PEGFCOMK_00009 |
11039 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1350G>T |
Thr450Thr |
M0046342 |
PEGFCOMK_00009 |
11051 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1362G>T |
Thr454Thr |
M0046343 |
PEGFCOMK_00009 |
11063 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1374G>A |
Thr458Thr |
M0046344 |
PEGFCOMK_00009 |
11111 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1422C>T |
Asp474Asp |
M0046345 |
PEGFCOMK_00009 |
11159 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1470T>C |
Tyr490Tyr |
M0046346 |
PEGFCOMK_00009 |
11198 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1509A>T |
Ala503Ala |
M0046347 |
PEGFCOMK_00009 |
11201 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1512T>C |
Thr504Thr |
M0046348 |
PEGFCOMK_00009 |
11222 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1533A>T |
Leu511Leu |
M0046349 |
PEGFCOMK_00009 |
11237 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1548C>A |
Ile516Ile |
M0046350 |
PEGFCOMK_00009 |
11267 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1578T>A |
Asn526Lys |
M0046351 |
PEGFCOMK_00014 |
15157 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
828A>G |
Ala276Ala |
M0046352 |
PEGFCOMK_00015 |
16647 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
531T>C |
Ala177Ala |
M0046353 |
PEGFCOMK_00015 |
16656 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
540C>G |
Arg180Arg |
M0046354 |
PEGFCOMK_00015 |
16698 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
582A>T |
Thr194Thr |
M0046355 |
PEGFCOMK_00015 |
16726 |
19 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
610A>C |
Arg204Arg |
M0046356 |
PEGFCOMK_00015 |
16737 |
19 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
621T>C |
Phe207Phe |
M0046357 |
PEGFCOMK_00015 |
16767 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
651G>A |
Ala217Ala |
M0046358 |
PEGFCOMK_00015 |
16797 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
681G>A |
Val227Val |
M0046359 |
PEGFCOMK_00015 |
16807 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
691T>C |
Ser231Pro |
M0046360 |
PEGFCOMK_00015 |
16815 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
699A>G |
Leu233Leu |
M0046361 |
PEGFCOMK_00015 |
16890 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
774T>C |
Ser258Ser |
M0046362 |
PEGFCOMK_00015 |
16916 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
800A>G |
Asn267Ser |
M0046363 |
PEGFCOMK_00015 |
16965 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
849G>A |
Ser283Ser |
M0046364 |
PEGFCOMK_00016 |
17248 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
838G>A |
Glu280Lys |
M0046365 |
PEGFCOMK_00016 |
17461 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
625C>T |
Leu209Leu |
M0046366 |
PEGFCOMK_00016 |
17474 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
612G>A |
Arg204Arg |
M0046367 |
PEGFCOMK_00016 |
17485 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
601G>C |
Ala201Pro |
M0046368 |
PEGFCOMK_00016 |
17504 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
582G>A |
Gly194Gly |
M0046369 |
PEGFCOMK_00016 |
17516 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
570T>A |
Val190Val |
M0046370 |
PEGFCOMK_00016 |
17534 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
552C>A |
Asn184Lys |
M0046371 |
PEGFCOMK_00016 |
17536 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
550A>G |
Asn184Asp |
M0046372 |
PEGFCOMK_00016 |
17554 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
532A>G |
Ile178Val |
M0046373 |
PEGFCOMK_00016 |
17585 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
501G>A |
Lys167Lys |
M0046374 |
PEGFCOMK_00016 |
17606 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
480A>G |
Arg160Arg |
M0046375 |
PEGFCOMK_00016 |
17607 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
479G>T |
Arg160Leu |
M0046376 |
PEGFCOMK_00016 |
17615 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
471G>A |
Gly157Gly |
M0046377 |
PEGFCOMK_00016 |
17716 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
370G>A |
Val124Ile |
M0046378 |
PEGFCOMK_00016 |
17729 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
357T>C |
Tyr119Tyr |
M0046379 |
PEGFCOMK_00016 |
17730 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
356A>T |
Tyr119Phe |
M0046380 |
PEGFCOMK_00016 |
17792 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
294A>T |
Ala98Ala |
M0046381 |
PEGFCOMK_00016 |
17803 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
283G>A |
Glu95Lys |
M0046382 |
PEGFCOMK_00016 |
17843 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
243G>A |
Val81Val |
M0046383 |
PEGFCOMK_00016 |
17885 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
201G>A |
Ala67Ala |
M0046384 |
PEGFCOMK_00016 |
17944 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
142C>A |
Leu48Ile |
M0046385 |
PEGFCOMK_00016 |
17951 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
135A>G |
Thr45Thr |
M0046386 |
PEGFCOMK_00016 |
17962 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
124A>T |
Ile42Leu |
M0046387 |
PEGFCOMK_00016 |
17978 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
108C>A |
His36Gln |
M0046388 |
PEGFCOMK_00016 |
17999 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
87C>G |
Ser29Ser |
M0046389 |
PEGFCOMK_00016 |
18025 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
61G>T |
Val21Phe |
M0046390 |
PEGFCOMK_00016 |
18026 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
60G>A |
Leu20Leu |
M0046391 |
PEGFCOMK_00016 |
18041 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
45A>G |
Thr15Thr |
M0046392 |
PEGFCOMK_00016 |
18047 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
39T>A |
Phe13Leu |
M0046393 |
PEGFCOMK_00013 |
18126 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3245A>G |
None |
M0046394 |
PEGFCOMK_00013 |
18133 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3252A>T |
None |
M0046395 |
PEGFCOMK_00013 |
18136 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3255T>A |
None |
M0046396 |
PEGFCOMK_00013 |
18172 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3291C>T |
None |
M0046397 |
PEGFCOMK_00013 |
18183 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3302T>C |
None |
M0046398 |
PEGFCOMK_00013 |
18195 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3314A>C |
None |
M0046399 |
PEGFCOMK_00013 |
18206 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3325A>G |
None |
M0046400 |
PEGFCOMK_00013 |
18207 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3326G>A |
None |
M0046401 |
PEGFCOMK_00013 |
18232 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3351A>T |
None |
M0046402 |
PEGFCOMK_00013 |
18323 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3442A>G |
None |
M0046403 |
PEGFCOMK_00013 |
18325 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3444C>T |
None |
M0046404 |
PEGFCOMK_00013 |
18326 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3445T>G |
None |
M0046405 |
PEGFCOMK_00013 |
18337 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3456T>A |
None |
M0046406 |
PEGFCOMK_00017 |
18374 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1395A>G |
Glu465Glu |
M0046407 |
PEGFCOMK_00017 |
18407 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1362G>A |
Lys454Lys |
M0046408 |
PEGFCOMK_00017 |
18422 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1347G>A |
Gln449Gln |
M0046409 |
PEGFCOMK_00017 |
18440 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1329C>T |
Tyr443Tyr |
M0046410 |
PEGFCOMK_00017 |
18494 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1275T>A |
Leu425Leu |
M0046411 |
PEGFCOMK_00017 |
18515 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1254G>A |
Lys418Lys |
M0046412 |
PEGFCOMK_00017 |
18530 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1239T>C |
Asp413Asp |
M0046413 |
PEGFCOMK_00017 |
18555 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1214G>A |
Ser405Asn |
M0046414 |
PEGFCOMK_00017 |
18614 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1155C>T |
Asp385Asp |
M0046415 |
PEGFCOMK_00017 |
18671 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1098G>A |
Pro366Pro |
M0046416 |
PEGFCOMK_00017 |
18818 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
951C>T |
Ala317Ala |
M0046417 |
PEGFCOMK_00017 |
18842 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
927C>T |
Gly309Gly |
M0046418 |
PEGFCOMK_00017 |
18849 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
920T>A |
Phe307Tyr |
M0046419 |
PEGFCOMK_00017 |
18970 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
799T>C |
Leu267Leu |
M0046420 |
PEGFCOMK_00017 |
19153 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
616G>A |
Glu206Lys |
M0046421 |
PEGFCOMK_00017 |
19280 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
489G>A |
Pro163Pro |
M0046422 |
PEGFCOMK_00017 |
19331 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
438T>C |
Phe146Phe |
M0046423 |
PEGFCOMK_00017 |
19361 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
408C>T |
Asp136Asp |
M0046424 |
PEGFCOMK_00017 |
19367 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
402A>T |
Thr134Thr |
M0046425 |
PEGFCOMK_00017 |
19406 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
363G>A |
Glu121Glu |
M0046426 |
PEGFCOMK_00017 |
19442 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
327A>G |
Glu109Glu |
M0046427 |
PEGFCOMK_00017 |
19445 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
324T>C |
Val108Val |
M0046428 |
PEGFCOMK_00017 |
19454 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
315A>G |
Lys105Lys |
M0046429 |
PEGFCOMK_00017 |
19475 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
294T>C |
Asn98Asn |
M0046430 |
PEGFCOMK_00017 |
19718 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
51T>A |
Ala17Ala |
M0046431 |
PEGFCOMK_00018 |
19914 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
725T>A |
Phe242Tyr |
M0046432 |
PEGFCOMK_00018 |
19919 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
720G>T |
Ser240Ser |
M0046433 |
PEGFCOMK_00018 |
20121 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
518T>C |
Phe173Ser |
M0046434 |
PEGFCOMK_00018 |
20321 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
318T>C |
Ile106Ile |
M0046435 |
PEGFCOMK_00018 |
20389 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
250G>A |
Val84Ile |
M0046436 |
PEGFCOMK_00018 |
20444 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
195T>C |
Asn65Asn |
M0046437 |
PEGFCOMK_00018 |
20450 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
189T>C |
Val63Val |
M0046438 |
PEGFCOMK_00018 |
20480 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
159T>C |
Asn53Asn |
M0046439 |
PEGFCOMK_00018 |
20504 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
135T>C |
Pro45Pro |
M0046440 |
PEGFCOMK_00018 |
20528 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
111A>G |
Val37Val |
M0046441 |
PEGFCOMK_00018 |
20531 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
108A>C |
Leu36Leu |
M0046442 |
PEGFCOMK_00006 |
5738 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
918C>T |
Ile306Ile |
M0046443 |
PEGFCOMK_00003 |
3242 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
26C>A |
Thr9Lys |
M0046444 |
PEGFCOMK_00004 |
3524 |
22 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
862A>G |
Ile288Val |
M0046445 |
PEGFCOMK_00005 |
4532 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
861T>C |
Asn287Asn |
M0046446 |
PEGFCOMK_00015 |
17082 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
966G>A |
Met322Ile |
M0046447 |
PEGFCOMK_00003 |
2801 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
467G>A |
Ser156Asn |
M0046448 |
PEGFCOMK_00003 |
2804 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
464C>T |
Ala155Val |
M0046449 |
PEGFCOMK_00003 |
2880 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
388C>T |
Leu130Leu |
M0046450 |
PEGFCOMK_00002 |
2011 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
85A>G |
Ile29Val |
M0046451 |
PEGFCOMK_00002 |
2036 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
60G>A |
Ser20Ser |
M0046452 |
PEGFCOMK_00002 |
2066 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
30T>A |
Val10Val |
M0046453 |
PEGFCOMK_00002 |
2085 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
11A>T |
Tyr4Phe |
M0046454 |
PEGFCOMK_00003 |
2878 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
390G>A |
Leu130Leu |
M0046455 |
PEGFCOMK_00003 |
2929 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
339A>G |
Ala113Ala |
M0046456 |
PEGFCOMK_00004 |
3765 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
621T>C |
Phe207Phe |
M0046457 |
PEGFCOMK_00009 |
11141 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1452C>A |
Ile484Ile |
M0046458 |
PEGFCOMK_00016 |
17776 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
310G>A |
Val104Ile |
M0046459 |
PEGFCOMK_00016 |
17805 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
281G>A |
Ser94Asn |
M0046460 |
PEGFCOMK_00016 |
17904 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
182C>G |
Thr61Arg |
M0046461 |
PEGFCOMK_00016 |
17912 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
174C>T |
Arg58Arg |
M0046462 |
PEGFCOMK_00017 |
19472 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
297T>G |
Leu99Leu |
M0046463 |
PEGFCOMK_00017 |
19514 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
255C>T |
Tyr85Tyr |
M0046464 |
PEGFCOMK_00015 |
16121 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
5G>A |
Arg2Lys |
M0046465 |
PEGFCOMK_00015 |
16911 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
795A>G |
Ala265Ala |
M0046466 |
PEGFCOMK_00005 |
5105 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
288A>G |
Gly96Gly |
M0046467 |
PEGFCOMK_00005 |
5362 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
31G>A |
Gly11Ser |
M0046468 |
PEGFCOMK_00006 |
5716 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
940T>A |
Leu314Met |
M0046469 |
PEGFCOMK_00007 |
7827 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
590C>T |
Pro197Leu |
M0046470 |
PEGFCOMK_00010 |
11922 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
291A>C |
Val97Val |
M0046471 |
PEGFCOMK_00012 |
12897 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
223A>G |
Ile75Val |
M0046472 |
PEGFCOMK_00008 |
13460 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3828T>A |
None |
M0046473 |
PEGFCOMK_00008 |
13767 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4135C>G |
None |
M0046474 |
PEGFCOMK_00008 |
13835 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4203G>A |
None |
M0046475 |
PEGFCOMK_00013 |
13898 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
984T>C |
Ile328Ile |
M0046476 |
PEGFCOMK_00013 |
13928 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
954G>A |
Ala318Ala |
M0046477 |
PEGFCOMK_00010 |
16005 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3793T>G |
None |
M0046478 |
PEGFCOMK_00015 |
16397 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
281A>C |
Glu94Ala |
M0046479 |
PEGFCOMK_00002 |
5492 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3397G>A |
None |
M0046480 |
PEGFCOMK_00008 |
8862 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
771G>A |
Ser257Ser |
M0046481 |
PEGFCOMK_00002 |
5489 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3394G>A |
None |
M0046482 |
PEGFCOMK_00008 |
9323 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
310C>A |
Leu104Ile |
M0046483 |
PEGFCOMK_00008 |
9401 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
232G>A |
Asp78Asn |
M0046484 |
PEGFCOMK_00008 |
9413 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
220G>T |
Ala74Ser |
M0046485 |
PEGFCOMK_00009 |
11144 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1455T>C |
Pro485Pro |
M0046486 |
PEGFCOMK_00009 |
11174 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1485G>A |
Glu495Glu |
M0046487 |
PEGFCOMK_00013 |
14233 |
12 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
649G>A |
Asp217Asn |
M0046488 |
PEGFCOMK_00013 |
14018 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
864G>A |
Lys288Lys |
M0046489 |
PEGFCOMK_00014 |
15001 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
984T>G |
Val328Val |
M0046490 |
PEGFCOMK_00014 |
15043 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
942C>A |
Ala314Ala |
M0046491 |
PEGFCOMK_00014 |
15130 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
855G>A |
Ala285Ala |
M0046492 |
PEGFCOMK_00014 |
15322 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
663A>T |
Val221Val |
M0046493 |
PEGFCOMK_00014 |
15432 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
553C>T |
Leu185Leu |
M0046494 |
PEGFCOMK_00014 |
15544 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
441A>T |
Thr147Thr |
M0046495 |
PEGFCOMK_00014 |
15796 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
189C>T |
Phe63Phe |
M0046496 |
PEGFCOMK_00010 |
16081 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3869C>T |
None |
M0046497 |
PEGFCOMK_00015 |
16353 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
237A>G |
Pro79Pro |
M0046498 |
PEGFCOMK_00015 |
16365 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
249T>A |
Pro83Pro |
M0046499 |
PEGFCOMK_00015 |
16410 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
294C>T |
Pro98Pro |
M0046500 |
PEGFCOMK_00015 |
16431 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
315C>T |
Ile105Ile |
M0046501 |
PEGFCOMK_00015 |
16573 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
457T>A |
Leu153Ile |
M0046502 |
PEGFCOMK_00015 |
16842 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
726G>A |
Ala242Ala |
M0046503 |
PEGFCOMK_00015 |
16917 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
801C>T |
Asn267Asn |
M0046504 |
PEGFCOMK_00015 |
17029 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
913A>G |
Lys305Glu |
M0046505 |
PEGFCOMK_00015 |
17089 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
973A>G |
Ile325Val |
M0046506 |
PEGFCOMK_00015 |
17092 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
976G>C |
Glu326Gln |
M0046507 |
PEGFCOMK_00015 |
17121 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1005T>C |
Ser335Ser |
M0046508 |
PEGFCOMK_00015 |
17123 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1007G>A |
Cys336Tyr |
M0046509 |
PEGFCOMK_00015 |
17129 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1013G>A |
Arg338His |
M0046510 |
PEGFCOMK_00016 |
17246 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
840A>G |
Glu280Glu |
M0046511 |
PEGFCOMK_00016 |
17285 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
801A>G |
Gln267Gln |
M0046512 |
PEGFCOMK_00016 |
17321 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
765T>A |
Ser255Ser |
M0046513 |
PEGFCOMK_00016 |
17327 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
759T>C |
Thr253Thr |
M0046514 |
PEGFCOMK_00016 |
17441 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
645T>A |
Gly215Gly |
M0046515 |
PEGFCOMK_00016 |
17711 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
375A>G |
Leu125Leu |
M0046516 |
PEGFCOMK_00013 |
18143 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3262C>A |
None |
M0046517 |
PEGFCOMK_00017 |
18704 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1065T>C |
Tyr355Tyr |
M0046518 |
PEGFCOMK_00017 |
18889 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
880T>C |
Leu294Leu |
M0046519 |
PEGFCOMK_00017 |
18902 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
867T>C |
Asp289Asp |
M0046520 |
PEGFCOMK_00018 |
20117 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
522T>C |
Ser174Ser |
M0046521 |
PEGFCOMK_00018 |
20122 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
517T>A |
Phe173Ile |
M0046522 |
PEGFCOMK_00018 |
20129 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
510T>A |
Thr170Thr |
M0046523 |
PEGFCOMK_00018 |
20147 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
492T>A |
Ser164Ser |
M0046524 |
PEGFCOMK_00018 |
20150 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
489A>G |
Thr163Thr |
M0046525 |
PEGFCOMK_00018 |
20163 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
476A>C |
Asp159Ala |
M0046526 |
PEGFCOMK_00018 |
20164 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
475G>A |
Asp159Asn |
M0046527 |
PEGFCOMK_00018 |
20187 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
452C>G |
Ala151Gly |
M0046528 |
PEGFCOMK_00018 |
20189 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
450A>G |
Leu150Leu |
M0046529 |
PEGFCOMK_00018 |
20192 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
447T>C |
Ile149Ile |
M0046530 |
PEGFCOMK_00018 |
20225 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
414A>T |
Ser138Ser |
M0046531 |
PEGFCOMK_00018 |
20240 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
399A>G |
Leu133Leu |
M0046532 |
PEGFCOMK_00018 |
20315 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
324C>T |
Tyr108Tyr |
M0046533 |
PEGFCOMK_00018 |
20354 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
285G>A |
Val95Val |
M0046534 |
PEGFCOMK_00018 |
20405 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
234T>A |
Pro78Pro |
M0046535 |
PEGFCOMK_00003 |
3154 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
114T>G |
Ala38Ala |
M0046536 |
PEGFCOMK_00005 |
4649 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
744C>T |
Asn248Asn |
M0046537 |
PEGFCOMK_00005 |
4704 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
689A>C |
Asp230Ala |
M0046538 |
PEGFCOMK_00005 |
4712 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
681A>G |
Ala227Ala |
M0046539 |
PEGFCOMK_00005 |
4760 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
633C>T |
Ser211Ser |
M0046540 |
PEGFCOMK_00005 |
4790 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
603T>A |
Ala201Ala |
M0046541 |
PEGFCOMK_00007 |
6746 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1671C>T |
Val557Val |
M0046542 |
PEGFCOMK_00007 |
6802 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1615G>C |
Asp539His |
M0046543 |
PEGFCOMK_00007 |
6815 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1602G>T |
Met534Ile |
M0046544 |
PEGFCOMK_00007 |
7067 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1350T>C |
Pro450Pro |
M0046545 |
PEGFCOMK_00007 |
8293 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
124A>T |
Ile42Phe |
M0046546 |
PEGFCOMK_00007 |
7649 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
768T>C |
Tyr256Tyr |
M0046547 |
PEGFCOMK_00009 |
10562 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
873G>T |
Trp291Cys |
M0046548 |
PEGFCOMK_00009 |
10587 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
898G>A |
Asp300Asn |
M0046549 |
PEGFCOMK_00002 |
5501 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3406T>A |
None |
M0046550 |
PEGFCOMK_00002 |
5571 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3476C>T |
None |
M0046551 |
PEGFCOMK_00007 |
6710 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1707G>A |
Val569Val |
M0046552 |
PEGFCOMK_00015 |
16996 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
880G>T |
Ala294Ser |
M0046553 |
PEGFCOMK_00017 |
18800 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
969A>C |
Gly323Gly |
M0046554 |
PEGFCOMK_00013 |
14692 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
190G>A |
Asp64Asn |
M0046555 |
PEGFCOMK_00016 |
17431 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
655G>A |
Glu219Lys |
M0046556 |
PEGFCOMK_00016 |
17591 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
495T>A |
Leu165Leu |
M0046557 |
PEGFCOMK_00007 |
12253 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3837T>C |
None |
M0046558 |
PEGFCOMK_00007 |
7819 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
598A>C |
Ile200Leu |
M0046559 |
PEGFCOMK_00007 |
7872 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
545C>A |
Thr182Asn |
M0046560 |
PEGFCOMK_00007 |
8275 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
142C>G |
Leu48Val |
M0046561 |
PEGFCOMK_00007 |
8285 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
132C>T |
Leu44Leu |
M0046562 |
PEGFCOMK_00008 |
8747 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
886A>T |
Ile296Leu |
M0046563 |
PEGFCOMK_00002 |
2272 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-177T>A |
None |
M0046564 |
PEGFCOMK_00009 |
11403 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1714A>T |
Thr572Ser |
M0046565 |
PEGFCOMK_00009 |
11404 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1715C>T |
Thr572Ile |
M0046566 |
PEGFCOMK_00007 |
12284 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3868C>T |
None |
M0046567 |
PEGFCOMK_00017 |
18953 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
816T>C |
Gly272Gly |
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 |
PEGFCOMK_00003 |
VFG044271 |
Staphyloferrin A |
78.4 |
8e-125 |
1 |
291 |
1.0 |
0.9037 |
Nutritional/Metabolic factor |
iron chelate uptake ABC transporter family permease subunit |
prediction |
PEGFCOMK_00004 |
VFG044272 |
Staphyloferrin A |
72.6 |
6.7e-139 |
1 |
343 |
1.0 |
1 |
Nutritional/Metabolic factor |
iron ABC transporter permease |
prediction |
PEGFCOMK_00005 |
VFG044273 |
Staphyloferrin A |
72.2 |
5e-131 |
1 |
327 |
0.9879 |
1 |
Nutritional/Metabolic factor |
ABC transporter substrate-binding protein |
prediction |
PEGFCOMK_00008 |
VFG044276 |
Staphyloferrin A |
74.9 |
3.1e-167 |
16 |
406 |
0.9583 |
0.9849 |
Nutritional/Metabolic factor |
staphyloferrin A export MFS transporter |
prediction |
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 |
PEGFCOMK_00017 |
QRL26301.1|GH1 |
100 |
0 |
1 |
470 |
1 |
1 |
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |
PEGFCOMK_00008 |
2.A.1.21.7 |
74.9 |
2.4e-167 |
16 |
406 |
0.9583 |
0.9924 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.1 |
The Major Facilitator Superfamily (MFS) |