Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C1523 |
Reference Plasmid |
1111525849478674_bin.7__k141_164710 |
Reference Plasmid Size |
152905 |
Reference Plasmid GC Content |
0.69 |
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 |
M0002807 |
ANEJICKO_00054 |
54523 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
670G>C |
Glu224Gln |
M0002808 |
ANEJICKO_00050 |
54682 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4193C>T |
None |
M0002809 |
ANEJICKO_00055 |
54914 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1884C>G |
Pro628Pro |
M0002810 |
ANEJICKO_00055 |
55043 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1755A>G |
Pro585Pro |
M0002811 |
ANEJICKO_00055 |
55256 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1542C>G |
Asp514Glu |
M0002812 |
ANEJICKO_00055 |
55262 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1536C>G |
Gly512Gly |
M0002813 |
ANEJICKO_00055 |
55292 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1506A>C |
Gly502Gly |
M0002814 |
ANEJICKO_00055 |
55391 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1407C>A |
Gly469Gly |
M0002815 |
ANEJICKO_00055 |
55417 |
8 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1381A>C |
Met461Leu |
M0002816 |
ANEJICKO_00055 |
55532 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1266T>C |
Ala422Ala |
M0002817 |
ANEJICKO_00055 |
55691 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1107T>C |
Asp369Asp |
M0002818 |
ANEJICKO_00055 |
55817 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
981C>T |
Thr327Thr |
M0002819 |
ANEJICKO_00055 |
56079 |
8 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
719A>G |
Asn240Ser |
M0002820 |
ANEJICKO_00055 |
56096 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
702G>A |
Ala234Ala |
M0002821 |
ANEJICKO_00055 |
56359 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
439C>T |
Leu147Leu |
M0002822 |
ANEJICKO_00055 |
56360 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
438C>A |
Thr146Thr |
M0002823 |
ANEJICKO_00055 |
56444 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
354T>C |
Gly118Gly |
M0002824 |
ANEJICKO_00055 |
56480 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
318C>G |
Leu106Leu |
M0002825 |
ANEJICKO_00055 |
56573 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
225C>T |
Gly75Gly |
M0002826 |
ANEJICKO_00055 |
56615 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
183C>T |
His61His |
M0002827 |
ANEJICKO_00055 |
56737 |
8 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
61T>G |
Ser21Ala |
M0002828 |
ANEJICKO_00056 |
57090 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
978C>G |
Ser326Ser |
M0002829 |
ANEJICKO_00056 |
57093 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
975G>C |
Ala325Ala |
M0002830 |
ANEJICKO_00056 |
57138 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
930A>C |
Ala310Ala |
M0002831 |
ANEJICKO_00056 |
57171 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
897G>A |
Ala299Ala |
M0002832 |
ANEJICKO_00056 |
57177 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
891A>G |
Ser297Ser |
M0002833 |
ANEJICKO_00056 |
57180 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
888C>A |
Ser296Ser |
M0002834 |
ANEJICKO_00056 |
57182 |
8 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
886T>G |
Ser296Ala |
M0002835 |
ANEJICKO_00056 |
57189 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
879G>C |
Arg293Arg |
M0002836 |
ANEJICKO_00056 |
57240 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
828A>G |
Pro276Pro |
M0002837 |
ANEJICKO_00056 |
57264 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
804C>T |
Asn268Asn |
M0002838 |
ANEJICKO_00056 |
57462 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
606G>A |
Lys202Lys |
M0002839 |
ANEJICKO_00056 |
57465 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
603G>A |
Glu201Glu |
M0002840 |
ANEJICKO_00056 |
57495 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
573C>T |
Asp191Asp |
M0002841 |
ANEJICKO_00056 |
57498 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
570T>C |
Arg190Arg |
M0002842 |
ANEJICKO_00056 |
57528 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
540A>G |
Ala180Ala |
M0002843 |
ANEJICKO_00056 |
57531 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
537T>C |
Gly179Gly |
M0002844 |
ANEJICKO_00056 |
57561 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
507G>C |
Val169Val |
M0002845 |
ANEJICKO_00056 |
57750 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
318T>C |
Asp106Asp |
M0002846 |
ANEJICKO_00056 |
57873 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
195G>C |
Pro65Pro |
M0002847 |
ANEJICKO_00056 |
57897 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
171C>T |
Asn57Asn |
M0002848 |
ANEJICKO_00056 |
57923 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
145T>G |
Ser49Ala |
M0002849 |
ANEJICKO_00055 |
58069 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1272C>A |
None |
M0002850 |
ANEJICKO_00055 |
58070 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1273T>G |
None |
M0002851 |
ANEJICKO_00057 |
58102 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1233G>A |
Ala411Ala |
M0002852 |
ANEJICKO_00057 |
58111 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1224G>C |
Thr408Thr |
M0002853 |
ANEJICKO_00083 |
95568 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2506T>G |
None |
M0002854 |
ANEJICKO_00083 |
95728 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2666G>A |
None |
M0002855 |
ANEJICKO_00083 |
95777 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2715G>A |
None |
M0002856 |
ANEJICKO_00086 |
96057 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
195G>A |
Glu65Glu |
M0002857 |
ANEJICKO_00086 |
96201 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
339A>C |
Arg113Arg |
M0002858 |
ANEJICKO_00086 |
96210 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
348T>C |
Arg116Arg |
M0002859 |
ANEJICKO_00086 |
96576 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
714A>G |
Ala238Ala |
M0002860 |
ANEJICKO_00086 |
96579 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
717G>C |
Ala239Ala |
M0002861 |
ANEJICKO_00086 |
96624 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
762G>C |
Thr254Thr |
M0002862 |
ANEJICKO_00086 |
96627 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
765G>C |
Gly255Gly |
M0002863 |
ANEJICKO_00086 |
96795 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
933T>C |
Gly311Gly |
M0002864 |
ANEJICKO_00087 |
97036 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1479C>A |
Ala493Ala |
M0002865 |
ANEJICKO_00087 |
97207 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1308C>G |
Gly436Gly |
M0002866 |
ANEJICKO_00087 |
97234 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1281G>C |
Thr427Thr |
M0002867 |
ANEJICKO_00087 |
97300 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1215G>A |
Arg405Arg |
M0002868 |
ANEJICKO_00087 |
97606 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
909C>T |
Ala303Ala |
M0002869 |
ANEJICKO_00087 |
97642 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
873T>C |
Arg291Arg |
M0002870 |
ANEJICKO_00087 |
98717 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-203A>G |
None |
M0002871 |
ANEJICKO_00087 |
98859 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-345T>G |
None |
M0002872 |
ANEJICKO_00087 |
98957 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-443A>G |
None |
M0002873 |
ANEJICKO_00087 |
99026 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-512C>G |
None |
M0002874 |
ANEJICKO_00087 |
99103 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-589T>C |
None |
M0002875 |
ANEJICKO_00087 |
99139 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-625C>T |
None |
M0002876 |
ANEJICKO_00088 |
99343 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1146A>G |
Val382Val |
M0002877 |
ANEJICKO_00088 |
99376 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1113T>C |
Ala371Ala |
M0002878 |
ANEJICKO_00088 |
99616 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
873T>C |
Ala291Ala |
M0002879 |
ANEJICKO_00088 |
99655 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
834T>C |
Ile278Ile |
M0002880 |
ANEJICKO_00088 |
99715 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
774C>T |
His258His |
M0002881 |
ANEJICKO_00088 |
100024 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
465T>C |
Thr155Thr |
M0002882 |
ANEJICKO_00088 |
100057 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
432C>G |
Leu144Leu |
M0002883 |
ANEJICKO_00088 |
100152 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
337A>T |
Met113Leu |
M0002884 |
ANEJICKO_00088 |
100276 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
213C>T |
Phe71Phe |
M0002885 |
ANEJICKO_00088 |
100321 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
168G>A |
Lys56Lys |
M0002886 |
ANEJICKO_00089 |
100741 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
87T>C |
Ile29Ile |
M0002887 |
ANEJICKO_00089 |
100747 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
93C>G |
Leu31Leu |
M0002888 |
ANEJICKO_00089 |
100762 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
108G>C |
Thr36Thr |
M0002889 |
ANEJICKO_00089 |
100891 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
His79His |
M0002890 |
ANEJICKO_00089 |
101002 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
348G>T |
Leu116Leu |
M0002891 |
ANEJICKO_00089 |
101062 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
408C>T |
Arg136Arg |
M0002892 |
ANEJICKO_00090 |
101918 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
120G>A |
Glu40Glu |
M0002893 |
ANEJICKO_00090 |
102030 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
8G>A |
Arg3His |
M0002894 |
ANEJICKO_00091 |
102214 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
978A>G |
Glu326Glu |
M0002895 |
ANEJICKO_00091 |
102730 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
462C>A |
Arg154Arg |
M0002896 |
ANEJICKO_00091 |
102751 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
441C>T |
Tyr147Tyr |
M0002897 |
ANEJICKO_00091 |
102763 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
429T>C |
Asp143Asp |
M0002898 |
ANEJICKO_00091 |
102796 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Asp132Asp |
M0002899 |
ANEJICKO_00091 |
102850 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
342A>C |
Ala114Ala |
M0002900 |
ANEJICKO_00092 |
103559 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
870T>G |
Ala290Ala |
M0002901 |
ANEJICKO_00092 |
103571 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
858G>C |
Ala286Ala |
M0002902 |
ANEJICKO_00092 |
103607 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
822C>T |
Ala274Ala |
M0002903 |
ANEJICKO_00092 |
103718 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
711A>G |
Val237Val |
M0002904 |
ANEJICKO_00092 |
103865 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
564A>G |
Ala188Ala |
M0002905 |
ANEJICKO_00092 |
103979 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
450C>T |
Tyr150Tyr |
M0002906 |
ANEJICKO_00092 |
104234 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
195A>C |
Gly65Gly |
M0002907 |
ANEJICKO_00092 |
104321 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
108C>A |
Ala36Ala |
M0002908 |
ANEJICKO_00092 |
104330 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
99T>C |
Cys33Cys |
M0002909 |
ANEJICKO_00092 |
104417 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
12C>T |
Arg4Arg |
M0002910 |
ANEJICKO_00092 |
104422 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
7A>G |
Thr3Ala |
M0002911 |
ANEJICKO_00092 |
104424 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
5A>G |
Asn2Ser |
M0002912 |
ANEJICKO_00093 |
104441 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
389G>A |
Arg130His |
M0002913 |
ANEJICKO_00093 |
104643 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
187A>G |
Thr63Ala |
M0002914 |
ANEJICKO_00093 |
104779 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
51T>C |
Arg17Arg |
M0002915 |
ANEJICKO_00093 |
104791 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
39C>T |
Leu13Leu |
M0002916 |
ANEJICKO_00088 |
104966 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4478A>G |
None |
M0002917 |
ANEJICKO_00088 |
104971 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4483T>G |
None |
M0002918 |
ANEJICKO_00094 |
105264 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
69G>C |
Arg23Arg |
M0002919 |
ANEJICKO_00094 |
105366 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
171T>C |
Ser57Ser |
M0002920 |
ANEJICKO_00094 |
105417 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
222C>A |
Gly74Gly |
M0002921 |
ANEJICKO_00094 |
105525 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
330A>G |
Lys110Lys |
M0002922 |
ANEJICKO_00094 |
105606 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
Ser137Ser |
M0002923 |
ANEJICKO_00094 |
105615 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
420C>T |
His140His |
M0002924 |
ANEJICKO_00094 |
105618 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
423A>C |
Ile141Ile |
M0002925 |
ANEJICKO_00094 |
105621 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
426A>G |
Pro142Pro |
M0002926 |
ANEJICKO_00094 |
105636 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
441C>T |
Pro147Pro |
M0002927 |
ANEJICKO_00094 |
105672 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
477C>T |
Pro159Pro |
M0002928 |
ANEJICKO_00094 |
105714 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
519C>A |
Ala173Ala |
M0002929 |
ANEJICKO_00094 |
105738 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
543C>T |
Arg181Arg |
M0002930 |
ANEJICKO_00094 |
105741 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
546G>C |
Val182Val |
M0002931 |
ANEJICKO_00094 |
105801 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
606G>A |
Glu202Glu |
M0002932 |
ANEJICKO_00094 |
105804 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
609C>G |
Ala203Ala |
M0002933 |
ANEJICKO_00094 |
105831 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
636A>G |
Ala212Ala |
M0002934 |
ANEJICKO_00094 |
105846 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
651A>G |
Pro217Pro |
M0002935 |
ANEJICKO_00094 |
106087 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
892G>A |
Val298Ile |
M0002936 |
ANEJICKO_00095 |
106597 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
152G>A |
Gly51Asp |
M0002937 |
ANEJICKO_00095 |
106601 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
156A>C |
Gly52Gly |
M0002938 |
ANEJICKO_00090 |
106804 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4767C>T |
None |
M0002939 |
ANEJICKO_00096 |
107284 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
345T>C |
His115His |
M0002940 |
ANEJICKO_00096 |
107287 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
His116His |
M0002941 |
ANEJICKO_00096 |
107581 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
642C>T |
Gly214Gly |
M0002942 |
ANEJICKO_00096 |
107617 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
678C>T |
Ser226Ser |
M0002943 |
ANEJICKO_00096 |
107707 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
768T>C |
Ile256Ile |
M0002944 |
ANEJICKO_00096 |
107817 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
878C>T |
Ala293Val |
M0002945 |
ANEJICKO_00096 |
107839 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
900C>T |
Arg300Arg |
M0002946 |
ANEJICKO_00096 |
107883 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
944A>C |
Gln315Pro |
M0002947 |
ANEJICKO_00091 |
107979 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4788G>C |
None |
M0002948 |
ANEJICKO_00091 |
107983 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4792A>C |
None |
M0002949 |
ANEJICKO_00091 |
107986 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4795G>A |
None |
M0002950 |
ANEJICKO_00091 |
108020 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4829C>G |
None |
M0002951 |
ANEJICKO_00091 |
108022 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4831A>G |
None |
M0002952 |
ANEJICKO_00091 |
108046 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4855A>C |
None |
M0002953 |
ANEJICKO_00091 |
108073 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4882G>A |
None |
M0002954 |
ANEJICKO_00097 |
108532 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
420C>G |
Ser140Ser |
M0002955 |
ANEJICKO_00097 |
108604 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
492T>C |
Asn164Asn |
M0002956 |
ANEJICKO_00097 |
108694 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
582C>T |
Asn194Asn |
M0002957 |
ANEJICKO_00097 |
108712 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
600G>A |
Lys200Lys |
M0002958 |
ANEJICKO_00097 |
109105 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
993T>C |
Ala331Ala |
M0002959 |
ANEJICKO_00097 |
109254 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1142A>G |
Lys381Arg |
M0002960 |
ANEJICKO_00097 |
109258 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1146T>C |
Tyr382Tyr |
M0002961 |
ANEJICKO_00098 |
109442 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
92C>A |
Ala31Glu |
M0002962 |
ANEJICKO_00098 |
109584 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
234C>G |
Leu78Leu |
M0002963 |
ANEJICKO_00098 |
109590 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
240A>G |
Glu80Glu |
M0002964 |
ANEJICKO_00098 |
109620 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
270T>C |
His90His |
M0002965 |
ANEJICKO_00098 |
109743 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
393G>C |
Arg131Arg |
M0002966 |
ANEJICKO_00098 |
109806 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
456A>C |
Ala152Ala |
M0002967 |
ANEJICKO_00098 |
110025 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
675C>T |
Asp225Asp |
M0002968 |
ANEJICKO_00098 |
110106 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
756A>G |
Lys252Lys |
M0002969 |
ANEJICKO_00098 |
110373 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1023C>G |
Pro341Pro |
M0002970 |
ANEJICKO_00094 |
110495 |
3 |
Skin |
0.04 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4067T>C |
None |
M0002971 |
ANEJICKO_00094 |
110498 |
3 |
Skin |
0.04 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4070T>C |
None |
M0002972 |
ANEJICKO_00094 |
110534 |
3 |
Skin |
0.04 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4106A>G |
None |
M0002973 |
ANEJICKO_00099 |
110739 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1203G>A |
Val401Val |
M0002974 |
ANEJICKO_00099 |
110769 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1173C>T |
Asp391Asp |
M0002975 |
ANEJICKO_00099 |
110793 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1149C>G |
Thr383Thr |
M0002976 |
ANEJICKO_00099 |
110865 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1077T>C |
Arg359Arg |
M0002977 |
ANEJICKO_00099 |
111378 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
564T>C |
Gly188Gly |
M0002978 |
ANEJICKO_00099 |
111716 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
226C>G |
Pro76Ala |
M0002979 |
ANEJICKO_00099 |
111731 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
211C>T |
Leu71Leu |
M0002980 |
ANEJICKO_00099 |
111753 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
189T>C |
Arg63Arg |
M0002981 |
ANEJICKO_00099 |
111861 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
81T>C |
Thr27Thr |
M0002982 |
ANEJICKO_00099 |
113151 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1210A>C |
None |
M0002983 |
ANEJICKO_00102 |
113491 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1491G>A |
Glu497Glu |
M0002984 |
ANEJICKO_00102 |
113608 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1374T>C |
Ala458Ala |
M0002985 |
ANEJICKO_00102 |
113641 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1341G>A |
Glu447Glu |
M0002986 |
ANEJICKO_00102 |
113675 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1307A>C |
Asn436Thr |
M0002987 |
ANEJICKO_00102 |
113917 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1065G>A |
Gly355Gly |
M0002988 |
ANEJICKO_00102 |
114031 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
951A>G |
Gln317Gln |
M0002989 |
ANEJICKO_00102 |
114124 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
858G>A |
Lys286Lys |
M0002990 |
ANEJICKO_00102 |
114127 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
855A>G |
Lys285Lys |
M0002991 |
ANEJICKO_00102 |
114130 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
852A>C |
Leu284Leu |
M0002992 |
ANEJICKO_00102 |
114469 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
513A>G |
Gly171Gly |
M0002993 |
ANEJICKO_00102 |
114977 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
5G>A |
Ser2Asn |
M0002994 |
ANEJICKO_00103 |
115629 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Asp122Asp |
M0002995 |
ANEJICKO_00103 |
115710 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
285G>C |
Leu95Leu |
M0002996 |
ANEJICKO_00103 |
115716 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
279C>T |
Asp93Asp |
M0002997 |
ANEJICKO_00103 |
115794 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
201C>T |
Gly67Gly |
M0002998 |
ANEJICKO_00103 |
115851 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
144T>G |
Gly48Gly |
M0002999 |
ANEJICKO_00069 |
72915 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
966C>T |
Gly322Gly |
M0003000 |
ANEJICKO_00069 |
72924 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
975C>T |
Gly325Gly |
M0003001 |
ANEJICKO_00069 |
72990 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1041G>A |
Glu347Glu |
M0003002 |
ANEJICKO_00069 |
73032 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1083C>A |
Ala361Ala |
M0003003 |
ANEJICKO_00069 |
73071 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1122C>T |
Ala374Ala |
M0003004 |
ANEJICKO_00069 |
73248 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1299C>G |
Leu433Leu |
M0003005 |
ANEJICKO_00069 |
73257 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1308G>C |
Gly436Gly |
M0003006 |
ANEJICKO_00069 |
73278 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1329C>G |
Ala443Ala |
M0003007 |
ANEJICKO_00069 |
73281 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1332C>A |
Gly444Gly |
M0003008 |
ANEJICKO_00069 |
73305 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1356G>A |
Ala452Ala |
M0003009 |
ANEJICKO_00069 |
73310 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1361G>A |
Arg454His |
M0003010 |
ANEJICKO_00069 |
73311 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1362C>T |
Arg454Arg |
M0003011 |
ANEJICKO_00070 |
73375 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
11G>A |
Arg4Gln |
M0003012 |
ANEJICKO_00070 |
73379 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
15C>T |
Asn5Asn |
M0003013 |
ANEJICKO_00070 |
73404 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
40G>A |
Ala14Thr |
M0003014 |
ANEJICKO_00070 |
73434 |
10 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
70A>G |
Ile24Val |
M0003015 |
ANEJICKO_00070 |
73582 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
218A>G |
Lys73Arg |
M0003016 |
ANEJICKO_00070 |
73751 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
387G>A |
Ala129Ala |
M0003017 |
ANEJICKO_00070 |
73760 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
396G>A |
Glu132Glu |
M0003018 |
ANEJICKO_00070 |
73778 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
414G>A |
Glu138Glu |
M0003019 |
ANEJICKO_00070 |
73802 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
438G>A |
Ala146Ala |
M0003020 |
ANEJICKO_00070 |
73820 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
456G>C |
Leu152Leu |
M0003021 |
ANEJICKO_00070 |
74123 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
759C>G |
Ala253Ala |
M0003022 |
ANEJICKO_00070 |
74134 |
10 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
770G>A |
Gly257Asp |
M0003023 |
ANEJICKO_00070 |
74141 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
777G>T |
Leu259Leu |
M0003024 |
ANEJICKO_00070 |
74192 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
828G>C |
Ala276Ala |
M0003025 |
ANEJICKO_00071 |
74304 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
429A>G |
Pro143Pro |
M0003026 |
ANEJICKO_00071 |
74373 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
360T>C |
Gly120Gly |
M0003027 |
ANEJICKO_00071 |
74513 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
220T>C |
Leu74Leu |
M0003028 |
ANEJICKO_00071 |
74544 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
189C>A |
Ile63Ile |
M0003029 |
ANEJICKO_00071 |
74941 |
10 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-209C>A |
None |
M0003030 |
ANEJICKO_00072 |
75193 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
237T>G |
Leu79Leu |
M0003031 |
ANEJICKO_00073 |
75563 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
192A>C |
Gly64Gly |
M0003032 |
ANEJICKO_00051 |
51306 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
537C>T |
Asp179Asp |
M0003033 |
ANEJICKO_00051 |
51309 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
540C>G |
Pro180Pro |
M0003034 |
ANEJICKO_00051 |
51312 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
543G>A |
Glu181Glu |
M0003035 |
ANEJICKO_00051 |
51323 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
554C>G |
Ala185Gly |
M0003036 |
ANEJICKO_00051 |
51335 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
566T>A |
Leu189His |
M0003037 |
ANEJICKO_00051 |
51600 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
831T>C |
Asp277Asp |
M0003038 |
ANEJICKO_00051 |
51618 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
849G>C |
Ala283Ala |
M0003039 |
ANEJICKO_00051 |
51684 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
915C>T |
Tyr305Tyr |
M0003040 |
ANEJICKO_00051 |
51687 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
918A>C |
Arg306Arg |
M0003041 |
ANEJICKO_00051 |
51771 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1002T>C |
Ser334Ser |
M0003042 |
ANEJICKO_00051 |
51963 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1194T>C |
Asp398Asp |
M0003043 |
ANEJICKO_00051 |
52191 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1422G>A |
Thr474Thr |
M0003044 |
ANEJICKO_00051 |
52236 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1467C>T |
Asp489Asp |
M0003045 |
ANEJICKO_00051 |
52353 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1584A>C |
Arg528Arg |
M0003046 |
ANEJICKO_00051 |
52494 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1725C>T |
Pro575Pro |
M0003047 |
ANEJICKO_00051 |
52741 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1972A>C |
Ile658Leu |
M0003048 |
ANEJICKO_00051 |
52845 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2076G>C |
Pro692Pro |
M0003049 |
ANEJICKO_00048 |
52946 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4893C>G |
None |
M0003050 |
ANEJICKO_00048 |
52953 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4900C>T |
None |
M0003051 |
ANEJICKO_00052 |
52980 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
10C>T |
His4Tyr |
M0003052 |
ANEJICKO_00049 |
53212 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4104A>G |
None |
M0003053 |
ANEJICKO_00054 |
54216 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
363G>C |
Val121Val |
M0003054 |
ANEJICKO_00054 |
54222 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
369C>G |
Thr123Thr |
M0003055 |
ANEJICKO_00054 |
54260 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
407G>A |
Arg136Lys |
M0003056 |
ANEJICKO_00055 |
55553 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1245C>T |
Cys415Cys |
M0003057 |
ANEJICKO_00055 |
55850 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
948C>T |
Phe316Phe |
M0003058 |
ANEJICKO_00055 |
56255 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
543G>C |
Ala181Ala |
M0003059 |
ANEJICKO_00056 |
57063 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1005G>A |
Glu335Glu |
M0003060 |
ANEJICKO_00056 |
57099 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
969G>C |
Leu323Leu |
M0003061 |
ANEJICKO_00056 |
57447 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
621C>T |
Arg207Arg |
M0003062 |
ANEJICKO_00056 |
57543 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
525C>T |
Asp175Asp |
M0003063 |
ANEJICKO_00057 |
58156 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1179C>T |
Gly393Gly |
M0003064 |
ANEJICKO_00057 |
58195 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1140G>A |
Glu380Glu |
M0003065 |
ANEJICKO_00057 |
58240 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1095C>T |
Ser365Ser |
M0003066 |
ANEJICKO_00057 |
58285 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1050T>G |
Pro350Pro |
M0003067 |
ANEJICKO_00057 |
58303 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1032T>C |
Leu344Leu |
M0003068 |
ANEJICKO_00057 |
58324 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1011G>A |
Gln337Gln |
M0003069 |
ANEJICKO_00057 |
58405 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
930G>A |
Ala310Ala |
M0003070 |
ANEJICKO_00057 |
58417 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
918C>G |
Arg306Arg |
M0003071 |
ANEJICKO_00057 |
58451 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
884T>C |
Val295Ala |
M0003072 |
ANEJICKO_00057 |
58516 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
819G>A |
Glu273Glu |
M0003073 |
ANEJICKO_00057 |
58537 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
798C>T |
Ala266Ala |
M0003074 |
ANEJICKO_00057 |
58561 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
774C>G |
Ala258Ala |
M0003075 |
ANEJICKO_00057 |
58606 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
729C>G |
Ala243Ala |
M0003076 |
ANEJICKO_00057 |
58609 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
726G>C |
Ser242Ser |
M0003077 |
ANEJICKO_00057 |
58732 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
603G>A |
Gly201Gly |
M0003078 |
ANEJICKO_00057 |
58735 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
600C>G |
Thr200Thr |
M0003079 |
ANEJICKO_00057 |
58897 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
438A>G |
Arg146Arg |
M0003080 |
ANEJICKO_00057 |
58909 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
426A>G |
Pro142Pro |
M0003081 |
ANEJICKO_00057 |
58963 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
372G>A |
Ala124Ala |
M0003082 |
ANEJICKO_00057 |
58984 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
351C>A |
Ile117Ile |
M0003083 |
ANEJICKO_00057 |
59011 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
324G>C |
Arg108Arg |
M0003084 |
ANEJICKO_00057 |
59022 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
313G>C |
Glu105Gln |
M0003085 |
ANEJICKO_00057 |
59054 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
281A>G |
His94Arg |
M0003086 |
ANEJICKO_00057 |
59140 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
195C>A |
Gly65Gly |
M0003087 |
ANEJICKO_00057 |
59269 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
66C>T |
Ile22Ile |
M0003088 |
ANEJICKO_00055 |
59404 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2607T>A |
None |
M0003089 |
ANEJICKO_00055 |
59412 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2615C>A |
None |
M0003090 |
ANEJICKO_00055 |
59415 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2618T>A |
None |
M0003091 |
ANEJICKO_00058 |
59437 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
9T>A |
His3Gln |
M0003092 |
ANEJICKO_00058 |
59440 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
12T>C |
Ile4Ile |
M0003093 |
ANEJICKO_00058 |
59446 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
18C>G |
Leu6Leu |
M0003094 |
ANEJICKO_00058 |
59449 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
21G>C |
Arg7Arg |
M0003095 |
ANEJICKO_00058 |
59455 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
27T>G |
Leu9Leu |
M0003096 |
ANEJICKO_00058 |
59461 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
33C>T |
Tyr11Tyr |
M0003097 |
ANEJICKO_00058 |
59719 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
291T>C |
Gly97Gly |
M0003098 |
ANEJICKO_00058 |
59921 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
493C>T |
Leu165Leu |
M0003099 |
ANEJICKO_00058 |
60247 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
819T>C |
Ala273Ala |
M0003100 |
ANEJICKO_00055 |
60392 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3595C>T |
None |
M0003101 |
ANEJICKO_00012 |
9587 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
477G>A |
Glu159Glu |
M0003102 |
ANEJICKO_00013 |
10151 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1386A>G |
Ile462Met |
M0003103 |
ANEJICKO_00013 |
10385 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1152T>C |
Ile384Ile |
M0003104 |
ANEJICKO_00013 |
10706 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
831A>G |
Glu277Glu |
M0003105 |
ANEJICKO_00013 |
10709 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
828G>C |
Val276Val |
M0003106 |
ANEJICKO_00013 |
10721 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
816C>G |
Leu272Leu |
M0003107 |
ANEJICKO_00013 |
11015 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
522C>G |
Ala174Ala |
M0003108 |
ANEJICKO_00013 |
11084 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
453C>G |
Val151Val |
M0003109 |
ANEJICKO_00013 |
11087 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
450G>C |
Gly150Gly |
M0003110 |
ANEJICKO_00013 |
11135 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
402G>C |
Pro134Pro |
M0003111 |
ANEJICKO_00013 |
11347 |
8 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
190A>G |
Thr64Ala |
M0003112 |
ANEJICKO_00013 |
11414 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
123C>G |
Val41Val |
M0003113 |
ANEJICKO_00014 |
11642 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
774C>T |
Ala258Ala |
M0003114 |
ANEJICKO_00014 |
11644 |
9 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
772G>C |
Ala258Pro |
M0003115 |
ANEJICKO_00014 |
11646 |
9 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
770G>A |
Arg257Gln |
M0003116 |
ANEJICKO_00014 |
11647 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
769C>A |
Arg257Arg |
M0003117 |
ANEJICKO_00014 |
11651 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
765T>C |
Ala255Ala |
M0003118 |
ANEJICKO_00014 |
11690 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
726C>T |
Gly242Gly |
M0003119 |
ANEJICKO_00014 |
11738 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
678A>C |
Ala226Ala |
M0003120 |
ANEJICKO_00014 |
11879 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
537G>A |
Ala179Ala |
M0003121 |
ANEJICKO_00014 |
11888 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
528G>A |
Ala176Ala |
M0003122 |
ANEJICKO_00014 |
11987 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
429T>C |
His143His |
M0003123 |
ANEJICKO_00014 |
12027 |
10 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
389G>A |
Arg130Lys |
M0003124 |
ANEJICKO_00014 |
12044 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
372A>G |
Pro124Pro |
M0003125 |
ANEJICKO_00014 |
12098 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
318A>G |
Ala106Ala |
M0003126 |
ANEJICKO_00014 |
12350 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
66G>A |
Val22Val |
M0003127 |
ANEJICKO_00015 |
12462 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
390T>C |
Tyr130Tyr |
M0003128 |
ANEJICKO_00015 |
12465 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
387G>C |
Val129Val |
M0003129 |
ANEJICKO_00016 |
13002 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
669G>A |
Glu223Glu |
M0003130 |
ANEJICKO_00016 |
13358 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
313G>A |
Ala105Thr |
M0003131 |
ANEJICKO_00016 |
13527 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
144C>G |
Ala48Ala |
M0003132 |
ANEJICKO_00016 |
13530 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
141C>T |
Asp47Asp |
M0003133 |
ANEJICKO_00016 |
13638 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
33T>C |
His11His |
M0003134 |
ANEJICKO_00017 |
13753 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
246C>T |
Asp82Asp |
M0003135 |
ANEJICKO_00017 |
13915 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
84C>T |
Ala28Ala |
M0003136 |
ANEJICKO_00017 |
13948 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
51A>C |
Pro17Pro |
M0003137 |
ANEJICKO_00011 |
14003 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4848C>A |
None |
M0003138 |
ANEJICKO_00011 |
14013 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4858A>G |
None |
M0003139 |
ANEJICKO_00018 |
14022 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
990C>T |
Gly330Gly |
M0003140 |
ANEJICKO_00018 |
14079 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
933C>T |
Val311Val |
M0003141 |
ANEJICKO_00018 |
14088 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
924A>C |
Ala308Ala |
M0003142 |
ANEJICKO_00018 |
14142 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
870C>T |
Asp290Asp |
M0003143 |
ANEJICKO_00018 |
14184 |
11 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
828T>C |
Asn276Asn |
M0003144 |
ANEJICKO_00018 |
14220 |
11 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
792G>C |
Pro264Pro |
M0003145 |
ANEJICKO_00018 |
14327 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
685C>T |
Leu229Leu |
M0003146 |
ANEJICKO_00018 |
14358 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
654T>C |
Arg218Arg |
M0003147 |
ANEJICKO_00018 |
14568 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
444C>G |
Ala148Ala |
M0003148 |
ANEJICKO_00018 |
14616 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
396C>A |
Ser132Ser |
M0003149 |
ANEJICKO_00018 |
14655 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
357C>G |
Thr119Thr |
M0003150 |
ANEJICKO_00018 |
14877 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
135C>A |
Pro45Pro |
M0003151 |
ANEJICKO_00018 |
14901 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
111A>C |
Ala37Ala |
M0003152 |
ANEJICKO_00018 |
14938 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
74A>T |
Gln25Leu |
M0003153 |
ANEJICKO_00019 |
15096 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1419C>A |
Val473Val |
M0003154 |
ANEJICKO_00019 |
15285 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1230T>C |
Tyr410Tyr |
M0003155 |
ANEJICKO_00019 |
15330 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1185A>G |
Glu395Glu |
M0003156 |
ANEJICKO_00019 |
15372 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1143C>T |
Phe381Phe |
M0003157 |
ANEJICKO_00019 |
15519 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
996A>G |
Glu332Glu |
M0003158 |
ANEJICKO_00019 |
15582 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
933G>A |
Glu311Glu |
M0003159 |
ANEJICKO_00019 |
15610 |
9 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
905G>A |
Arg302Lys |
M0003160 |
ANEJICKO_00019 |
16221 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
294G>A |
Gln98Gln |
M0003161 |
ANEJICKO_00019 |
16230 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
285G>C |
Thr95Thr |
M0003162 |
ANEJICKO_00019 |
16383 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
132T>C |
Val44Val |
M0003163 |
ANEJICKO_00019 |
16419 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
96C>T |
Val32Val |
M0003164 |
ANEJICKO_00013 |
16518 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4982C>T |
None |
M0003165 |
ANEJICKO_00013 |
16519 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4983T>C |
None |
M0003166 |
ANEJICKO_00020 |
16946 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
358A>G |
Ser120Gly |
M0003167 |
ANEJICKO_00020 |
16953 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
351T>C |
Asp117Asp |
M0003168 |
ANEJICKO_00020 |
16986 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
318C>A |
Ile106Ile |
M0003169 |
ANEJICKO_00020 |
17000 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
304T>C |
Leu102Leu |
M0003170 |
ANEJICKO_00020 |
17046 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
258G>C |
Arg86Arg |
M0003171 |
ANEJICKO_00020 |
17160 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
144C>T |
Phe48Phe |
M0003172 |
ANEJICKO_00020 |
17166 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
138C>G |
Thr46Thr |
M0003173 |
ANEJICKO_00020 |
17282 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
22T>C |
Phe8Leu |
M0003174 |
ANEJICKO_00021 |
17331 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
650C>T |
Ser217Leu |
M0003175 |
ANEJICKO_00021 |
17482 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
499T>C |
Ser167Pro |
M0003176 |
ANEJICKO_00021 |
17492 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
489T>C |
Asp163Asp |
M0003177 |
ANEJICKO_00021 |
17501 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
480T>C |
Gly160Gly |
M0003178 |
ANEJICKO_00021 |
17546 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
435T>C |
Ala145Ala |
M0003179 |
ANEJICKO_00021 |
17574 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
407G>C |
Arg136Pro |
M0003180 |
ANEJICKO_00021 |
17771 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
210G>C |
Pro70Pro |
M0003181 |
ANEJICKO_00021 |
17816 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
165T>C |
Asn55Asn |
M0003182 |
ANEJICKO_00021 |
17842 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
139C>A |
Pro47Thr |
M0003183 |
ANEJICKO_00021 |
17843 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
138T>C |
Ala46Ala |
M0003184 |
ANEJICKO_00022 |
18276 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
3547T>G |
Ser1183Ala |
M0003185 |
ANEJICKO_00022 |
18302 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
3521T>C |
Val1174Ala |
M0003186 |
ANEJICKO_00022 |
18306 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
3517A>G |
Thr1173Ala |
M0003187 |
ANEJICKO_00022 |
18385 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
3438G>C |
Ala1146Ala |
M0003188 |
ANEJICKO_00022 |
18389 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
3434C>G |
Ala1145Gly |
M0003189 |
ANEJICKO_00022 |
18390 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
3433G>A |
Ala1145Thr |
M0003190 |
ANEJICKO_00022 |
18546 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
3277A>C |
Met1093Leu |
M0003191 |
ANEJICKO_00022 |
18554 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
3269G>A |
Gly1090Asp |
M0003192 |
ANEJICKO_00022 |
18555 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
3268G>A |
Gly1090Ser |
M0003193 |
ANEJICKO_00022 |
18625 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
3198G>A |
Ala1066Ala |
M0003194 |
ANEJICKO_00022 |
18821 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
3002G>A |
Gly1001Asp |
M0003195 |
ANEJICKO_00022 |
18822 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
3001G>A |
Gly1001Ser |
M0003196 |
ANEJICKO_00022 |
18826 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2997A>G |
Ala999Ala |
M0003197 |
ANEJICKO_00022 |
18851 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2972C>T |
Pro991Leu |
M0003198 |
ANEJICKO_00022 |
18861 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2962C>T |
Leu988Leu |
M0003199 |
ANEJICKO_00022 |
18919 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2904T>C |
Pro968Pro |
M0003200 |
ANEJICKO_00022 |
19063 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2760C>A |
Ala920Ala |
M0003201 |
ANEJICKO_00022 |
19068 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2755T>C |
Tyr919His |
M0003202 |
ANEJICKO_00022 |
19147 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2676C>G |
Ala892Ala |
M0003203 |
ANEJICKO_00022 |
19204 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2619A>G |
Ala873Ala |
M0003204 |
ANEJICKO_00022 |
19237 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2586A>C |
Arg862Arg |
M0003205 |
ANEJICKO_00022 |
19249 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2574C>A |
Ala858Ala |
M0003206 |
ANEJICKO_00022 |
19263 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2560G>A |
Gly854Ser |
M0003207 |
ANEJICKO_00022 |
19276 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2547T>C |
Asp849Asp |
M0003208 |
ANEJICKO_00022 |
19285 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2538C>T |
Tyr846Tyr |
M0003209 |
ANEJICKO_00022 |
19408 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2415T>C |
Ile805Ile |
M0003210 |
ANEJICKO_00022 |
19415 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2408C>A |
Pro803Gln |
M0003211 |
ANEJICKO_00022 |
19519 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2304G>C |
Ala768Ala |
M0003212 |
ANEJICKO_00022 |
19543 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2280A>G |
Ala760Ala |
M0003213 |
ANEJICKO_00022 |
19576 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2247C>A |
Ala749Ala |
M0003214 |
ANEJICKO_00022 |
19587 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2236A>G |
Asn746Asp |
M0003215 |
ANEJICKO_00022 |
19621 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2202C>T |
Gly734Gly |
M0003216 |
ANEJICKO_00022 |
19867 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1956A>G |
Ala652Ala |
M0003217 |
ANEJICKO_00022 |
20200 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1623T>C |
Asn541Asn |
M0003218 |
ANEJICKO_00022 |
20535 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1288G>A |
Gly430Ser |
M0003219 |
ANEJICKO_00022 |
20695 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1128A>C |
Ala376Ala |
M0003220 |
ANEJICKO_00022 |
20739 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1084G>A |
Ala362Thr |
M0003221 |
ANEJICKO_00022 |
20740 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1083G>A |
Pro361Pro |
M0003222 |
ANEJICKO_00022 |
20751 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1072A>G |
Thr358Ala |
M0003223 |
ANEJICKO_00022 |
20977 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
846A>G |
Lys282Lys |
M0003224 |
ANEJICKO_00022 |
21091 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
732G>C |
Ala244Ala |
M0003225 |
ANEJICKO_00020 |
22028 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4725A>G |
None |
M0003226 |
ANEJICKO_00024 |
22531 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
885C>T |
Arg295Arg |
M0003227 |
ANEJICKO_00024 |
22564 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
852C>T |
His284His |
M0003228 |
ANEJICKO_00024 |
23005 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
411G>A |
Lys137Lys |
M0003229 |
ANEJICKO_00025 |
23663 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
762T>C |
Asn254Asn |
M0003230 |
ANEJICKO_00025 |
23726 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
699G>T |
Thr233Thr |
M0003231 |
ANEJICKO_00025 |
23814 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
611G>A |
Ser204Asn |
M0003232 |
ANEJICKO_00022 |
25015 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3193G>A |
None |
M0003233 |
ANEJICKO_00013 |
10772 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
765G>T |
Ser255Ser |
M0003234 |
ANEJICKO_00013 |
11198 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
339T>C |
Tyr113Tyr |
M0003235 |
ANEJICKO_00013 |
11300 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
237G>T |
Gln79His |
M0003236 |
ANEJICKO_00013 |
11312 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
225G>A |
Ala75Ala |
M0003237 |
ANEJICKO_00008 |
11577 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4494C>T |
None |
M0003238 |
ANEJICKO_00014 |
11741 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
675G>A |
Val225Val |
M0003239 |
ANEJICKO_00016 |
13413 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
258G>C |
Leu86Leu |
M0003240 |
ANEJICKO_00016 |
13431 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Ile80Ile |
M0003241 |
ANEJICKO_00011 |
14015 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4860C>A |
None |
M0003242 |
ANEJICKO_00018 |
14180 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
832G>T |
Ala278Ser |
M0003243 |
ANEJICKO_00108 |
124224 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2181G>A |
None |
M0003244 |
ANEJICKO_00111 |
124318 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
810C>T |
Asp270Asp |
M0003245 |
ANEJICKO_00111 |
124384 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
744T>G |
Asp248Glu |
M0003246 |
ANEJICKO_00111 |
124729 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
399C>G |
Gly133Gly |
M0003247 |
ANEJICKO_00111 |
124771 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
357G>A |
Lys119Lys |
M0003248 |
ANEJICKO_00111 |
124777 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
351A>G |
Glu117Glu |
M0003249 |
ANEJICKO_00111 |
124780 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
Gly116Gly |
M0003250 |
ANEJICKO_00111 |
124843 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
285T>C |
Arg95Arg |
M0003251 |
ANEJICKO_00111 |
124888 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Asp80Asp |
M0003252 |
ANEJICKO_00111 |
124969 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
159G>C |
Gly53Gly |
M0003253 |
ANEJICKO_00111 |
124972 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
156C>G |
Pro52Pro |
M0003254 |
ANEJICKO_00111 |
125041 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
87G>A |
Ala29Ala |
M0003255 |
ANEJICKO_00111 |
125062 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Glu22Glu |
M0003256 |
ANEJICKO_00108 |
125178 |
8 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3135A>G |
None |
M0003257 |
ANEJICKO_00108 |
125214 |
8 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3171T>G |
None |
M0003258 |
ANEJICKO_00112 |
125306 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
909T>C |
Asp303Asp |
M0003259 |
ANEJICKO_00112 |
125318 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
897G>C |
Val299Val |
M0003260 |
ANEJICKO_00112 |
125321 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
894C>T |
Asp298Asp |
M0003261 |
ANEJICKO_00112 |
125324 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
891C>A |
Ala297Ala |
M0003262 |
ANEJICKO_00112 |
125327 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
888C>G |
Ser296Ser |
M0003263 |
ANEJICKO_00112 |
126050 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
165A>G |
Gln55Gln |
M0003264 |
ANEJICKO_00108 |
126222 |
10 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4179A>G |
None |
M0003265 |
ANEJICKO_00113 |
126481 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
60T>C |
His20His |
M0003266 |
ANEJICKO_00113 |
126653 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
232C>A |
Leu78Met |
M0003267 |
ANEJICKO_00113 |
126655 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
234G>C |
Leu78Leu |
M0003268 |
ANEJICKO_00113 |
126685 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
264A>C |
Gly88Gly |
M0003269 |
ANEJICKO_00113 |
126733 |
10 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
312A>C |
Arg104Arg |
M0003270 |
ANEJICKO_00113 |
126757 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
336G>A |
Ala112Ala |
M0003271 |
ANEJICKO_00113 |
126761 |
11 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
340A>C |
Lys114Gln |
M0003272 |
ANEJICKO_00113 |
126921 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
500C>T |
Ala167Val |
M0003273 |
ANEJICKO_00113 |
126979 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
558C>T |
Ala186Ala |
M0003274 |
ANEJICKO_00113 |
127249 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
828G>A |
Ala276Ala |
M0003275 |
ANEJICKO_00113 |
127276 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
855G>C |
Ala285Ala |
M0003276 |
ANEJICKO_00113 |
127279 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
858A>G |
Gln286Gln |
M0003277 |
ANEJICKO_00114 |
127393 |
11 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
36A>G |
Glu12Glu |
M0003278 |
ANEJICKO_00114 |
127432 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
75T>C |
Pro25Pro |
M0003279 |
ANEJICKO_00114 |
127609 |
11 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
252C>G |
Ser84Ser |
M0003280 |
ANEJICKO_00114 |
128161 |
11 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
804C>T |
Tyr268Tyr |
M0003281 |
ANEJICKO_00114 |
128221 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
864C>G |
Pro288Pro |
M0003282 |
ANEJICKO_00115 |
128664 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
129C>G |
Pro43Pro |
M0003283 |
ANEJICKO_00115 |
128682 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
147G>A |
Ala49Ala |
M0003284 |
ANEJICKO_00115 |
128763 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
228T>C |
Asp76Asp |
M0003285 |
ANEJICKO_00115 |
128847 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
312G>T |
Ala104Ala |
M0003286 |
ANEJICKO_00115 |
128883 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
348A>C |
Arg116Arg |
M0003287 |
ANEJICKO_00087 |
98755 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-241G>A |
None |
M0003288 |
ANEJICKO_00088 |
99256 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1233A>G |
Glu411Glu |
M0003289 |
ANEJICKO_00088 |
99913 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
576G>A |
Val192Val |
M0003290 |
ANEJICKO_00088 |
99925 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
564C>G |
Gly188Gly |
M0003291 |
ANEJICKO_00089 |
101185 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
531C>T |
Leu177Leu |
M0003292 |
ANEJICKO_00089 |
101560 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
906A>G |
Glu302Glu |
M0003293 |
ANEJICKO_00087 |
101564 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3050G>C |
None |
M0003294 |
ANEJICKO_00087 |
101565 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3051G>C |
None |
M0003295 |
ANEJICKO_00087 |
101569 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3055C>G |
None |
M0003296 |
ANEJICKO_00087 |
101570 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3056C>T |
None |
M0003297 |
ANEJICKO_00087 |
101573 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3059T>C |
None |
M0003298 |
ANEJICKO_00087 |
101579 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3065T>A |
None |
M0003299 |
ANEJICKO_00090 |
101619 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
419A>G |
Asp140Gly |
M0003300 |
ANEJICKO_00091 |
102253 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
939T>C |
Val313Val |
M0003301 |
ANEJICKO_00091 |
102871 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
321G>C |
Ala107Ala |
M0003302 |
ANEJICKO_00092 |
103889 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
540G>A |
Gln180Gln |
M0003303 |
ANEJICKO_00093 |
104515 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
315T>C |
Ala105Ala |
M0003304 |
ANEJICKO_00093 |
104651 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
179C>G |
Ser60Cys |
M0003305 |
ANEJICKO_00093 |
104652 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
178T>A |
Ser60Thr |
M0003306 |
ANEJICKO_00016 |
13536 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
135G>C |
Arg45Arg |
M0003307 |
ANEJICKO_00018 |
14328 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
684A>C |
Ala228Ala |
M0003308 |
ANEJICKO_00018 |
14330 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
682G>C |
Ala228Pro |
M0003309 |
ANEJICKO_00018 |
14557 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
455G>A |
Ser152Asn |
M0003310 |
ANEJICKO_00018 |
14565 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
447C>T |
Asp149Asp |
M0003311 |
ANEJICKO_00018 |
14583 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
429C>A |
Gly143Gly |
M0003312 |
ANEJICKO_00018 |
14899 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
113A>G |
Lys38Arg |
M0003313 |
ANEJICKO_00018 |
14918 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
94T>G |
Ser32Ala |
M0003314 |
ANEJICKO_00018 |
14925 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
87T>C |
Gly29Gly |
M0003315 |
ANEJICKO_00019 |
15072 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1443G>A |
Pro481Pro |
M0003316 |
ANEJICKO_00019 |
15474 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1041T>C |
Asp347Asp |
M0003317 |
ANEJICKO_00019 |
15648 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
867T>C |
Tyr289Tyr |
M0003318 |
ANEJICKO_00127 |
141609 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
752C>T |
Ala251Val |
M0003319 |
ANEJICKO_00127 |
141629 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
732C>G |
Ala244Ala |
M0003320 |
ANEJICKO_00127 |
141665 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
696T>C |
Ile232Ile |
M0003321 |
ANEJICKO_00127 |
141674 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
687C>T |
Gly229Gly |
M0003322 |
ANEJICKO_00127 |
141956 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
405G>A |
Ser135Ser |
M0003323 |
ANEJICKO_00127 |
142250 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
111C>G |
Thr37Thr |
M0003324 |
ANEJICKO_00124 |
142469 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4330C>G |
None |
M0003325 |
ANEJICKO_00124 |
142520 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4381T>A |
None |
M0003326 |
ANEJICKO_00128 |
142565 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
29C>A |
Ala10Asp |
M0003327 |
ANEJICKO_00128 |
142567 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
31T>C |
Leu11Leu |
M0003328 |
ANEJICKO_00128 |
142704 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
168T>C |
Ala56Ala |
M0003329 |
ANEJICKO_00128 |
142740 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
204T>C |
Tyr68Tyr |
M0003330 |
ANEJICKO_00128 |
142815 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
279T>C |
Ser93Ser |
M0003331 |
ANEJICKO_00128 |
142851 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
315C>T |
Arg105Arg |
M0003332 |
ANEJICKO_00128 |
143128 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
592T>C |
Leu198Leu |
M0003333 |
ANEJICKO_00128 |
143271 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
735G>A |
Thr245Thr |
M0003334 |
ANEJICKO_00128 |
143280 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
744A>C |
Gly248Gly |
M0003335 |
ANEJICKO_00129 |
143625 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
640A>G |
Thr214Ala |
M0003336 |
ANEJICKO_00129 |
144185 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
80A>G |
Lys27Arg |
M0003337 |
ANEJICKO_00130 |
144358 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
348A>C |
Ala116Ala |
M0003338 |
ANEJICKO_00130 |
144472 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
234T>G |
Val78Val |
M0003339 |
ANEJICKO_00130 |
144532 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
174A>G |
Gln58Gln |
M0003340 |
ANEJICKO_00130 |
144594 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
112C>T |
Pro38Ser |
M0003341 |
ANEJICKO_00131 |
144792 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1560T>C |
Phe520Phe |
M0003342 |
ANEJICKO_00131 |
144953 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1399T>G |
Ser467Ala |
M0003343 |
ANEJICKO_00131 |
145468 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
884G>A |
Ser295Asn |
M0003344 |
ANEJICKO_00131 |
145604 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
748G>C |
Ala250Pro |
M0003345 |
ANEJICKO_00131 |
145632 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
720C>T |
Val240Val |
M0003346 |
ANEJICKO_00131 |
145854 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
498G>T |
Val166Val |
M0003347 |
ANEJICKO_00131 |
145926 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
426A>G |
Pro142Pro |
M0003348 |
ANEJICKO_00068 |
71524 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
717C>G |
Leu239Leu |
M0003349 |
ANEJICKO_00068 |
71527 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
720A>G |
Ala240Ala |
M0003350 |
ANEJICKO_00068 |
71548 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
741C>A |
Gly247Gly |
M0003351 |
ANEJICKO_00068 |
71655 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
848A>G |
Asp283Gly |
M0003352 |
ANEJICKO_00068 |
71724 |
8 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
917C>T |
Pro306Leu |
M0003353 |
ANEJICKO_00068 |
71932 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1125G>C |
Glu375Asp |
M0003354 |
ANEJICKO_00068 |
71946 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1139T>G |
Val380Gly |
M0003355 |
ANEJICKO_00069 |
71966 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
17A>C |
Gln6Pro |
M0003356 |
ANEJICKO_00069 |
71969 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
20G>C |
Ser7Thr |
M0003357 |
ANEJICKO_00069 |
71970 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
21T>A |
Ser7Arg |
M0003358 |
ANEJICKO_00069 |
71971 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
22T>C |
Ser8Pro |
M0003359 |
ANEJICKO_00069 |
72033 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
84A>G |
Val28Val |
M0003360 |
ANEJICKO_00069 |
72279 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
330T>C |
Ala110Ala |
M0003361 |
ANEJICKO_00069 |
72363 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
414C>G |
Arg138Arg |
M0003362 |
ANEJICKO_00069 |
72483 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
534A>G |
Pro178Pro |
M0003363 |
ANEJICKO_00069 |
72521 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
572A>G |
Asn191Ser |
M0003364 |
ANEJICKO_00069 |
72558 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
609C>G |
Ala203Ala |
M0003365 |
ANEJICKO_00069 |
72561 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
612A>C |
Arg204Arg |
M0003366 |
ANEJICKO_00069 |
72564 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
615C>A |
Ala205Ala |
M0003367 |
ANEJICKO_00069 |
72567 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
618G>A |
Gln206Gln |
M0003368 |
ANEJICKO_00069 |
72670 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
721A>C |
Ile241Leu |
M0003369 |
ANEJICKO_00069 |
72792 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
843C>T |
His281His |
M0003370 |
ANEJICKO_00069 |
72820 |
8 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
871A>G |
Thr291Ala |
M0003371 |
ANEJICKO_00069 |
73160 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1211G>A |
Gly404Asp |
M0003372 |
ANEJICKO_00069 |
73170 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1221A>G |
Ala407Ala |
M0003373 |
ANEJICKO_00069 |
73171 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1222G>C |
Val408Leu |
M0003374 |
ANEJICKO_00069 |
73195 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1246G>A |
Val416Met |
M0003375 |
ANEJICKO_00070 |
73475 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
111G>C |
Pro37Pro |
M0003376 |
ANEJICKO_00070 |
73862 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
498C>T |
Asp166Asp |
M0003377 |
ANEJICKO_00071 |
74367 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
366G>C |
Leu122Leu |
M0003378 |
ANEJICKO_00074 |
76513 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1685T>C |
Val562Ala |
M0003379 |
ANEJICKO_00074 |
76667 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1531G>C |
Ala511Pro |
M0003380 |
ANEJICKO_00074 |
77718 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
480G>C |
Ala160Ala |
M0003381 |
ANEJICKO_00074 |
77721 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
477G>C |
Leu159Leu |
M0003382 |
ANEJICKO_00074 |
77754 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
444C>T |
His148His |
M0003383 |
ANEJICKO_00074 |
77786 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
412C>A |
Arg138Arg |
M0003384 |
ANEJICKO_00071 |
78345 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3613C>T |
None |
M0003385 |
ANEJICKO_00071 |
78451 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3719C>T |
None |
M0003386 |
ANEJICKO_00097 |
108150 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
38C>T |
Ala13Val |
M0003387 |
ANEJICKO_00098 |
110172 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
822A>C |
Ala274Ala |
M0003388 |
ANEJICKO_00099 |
111012 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
930G>C |
Ala310Ala |
M0003389 |
ANEJICKO_00102 |
113948 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1034T>A |
Val345Glu |
M0003390 |
ANEJICKO_00102 |
114013 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
969C>G |
Ala323Ala |
M0003391 |
ANEJICKO_00102 |
114472 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
510G>C |
Val170Val |
M0003392 |
ANEJICKO_00102 |
114493 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
489C>T |
Gly163Gly |
M0003393 |
ANEJICKO_00099 |
116091 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4150C>T |
None |
M0003394 |
ANEJICKO_00099 |
116097 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4156A>C |
None |
M0003395 |
ANEJICKO_00105 |
117301 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
32T>C |
Leu11Pro |
M0003396 |
ANEJICKO_00105 |
117725 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
456C>G |
Ala152Ala |
M0003397 |
ANEJICKO_00105 |
118055 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
786A>C |
Arg262Arg |
M0003398 |
ANEJICKO_00105 |
118130 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
861C>G |
Val287Val |
M0003399 |
ANEJICKO_00105 |
118250 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
981T>C |
His327His |
M0003400 |
ANEJICKO_00105 |
118322 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1053A>T |
Ala351Ala |
M0003401 |
ANEJICKO_00105 |
118460 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1191A>G |
Val397Val |
M0003402 |
ANEJICKO_00106 |
118548 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
59C>G |
Ser20Cys |
M0003403 |
ANEJICKO_00106 |
118573 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
84A>C |
Ser28Ser |
M0003404 |
ANEJICKO_00106 |
118639 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
150T>C |
Asp50Asp |
M0003405 |
ANEJICKO_00106 |
118644 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
155C>T |
Pro52Leu |
M0003406 |
ANEJICKO_00106 |
118690 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
201C>T |
Tyr67Tyr |
M0003407 |
ANEJICKO_00106 |
118880 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
391G>T |
Val131Leu |
M0003408 |
ANEJICKO_00106 |
119029 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
540C>T |
Gly180Gly |
M0003409 |
ANEJICKO_00106 |
119032 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
543T>G |
Ser181Ser |
M0003410 |
ANEJICKO_00106 |
119151 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
662C>T |
Ala221Val |
M0003411 |
ANEJICKO_00106 |
119305 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
816C>T |
Gly272Gly |
M0003412 |
ANEJICKO_00106 |
119306 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
817G>T |
Ala273Ser |
M0003413 |
ANEJICKO_00106 |
119461 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
972T>G |
Ala324Ala |
M0003414 |
ANEJICKO_00106 |
119520 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1031A>C |
Glu344Ala |
M0003415 |
ANEJICKO_00106 |
119521 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1032G>T |
Glu344Asp |
M0003416 |
ANEJICKO_00107 |
119611 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
22T>C |
Ser8Pro |
M0003417 |
ANEJICKO_00107 |
119646 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
57T>G |
Ala19Ala |
M0003418 |
ANEJICKO_00107 |
119673 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
84A>G |
Ala28Ala |
M0003419 |
ANEJICKO_00107 |
119689 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
100A>G |
Thr34Ala |
M0003420 |
ANEJICKO_00107 |
119721 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
132C>T |
Ile44Ile |
M0003421 |
ANEJICKO_00107 |
119832 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
243C>T |
Ala81Ala |
M0003422 |
ANEJICKO_00107 |
119883 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
294T>C |
Asp98Asp |
M0003423 |
ANEJICKO_00107 |
120142 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
553T>C |
Leu185Leu |
M0003424 |
ANEJICKO_00107 |
120216 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
627A>G |
Gly209Gly |
M0003425 |
ANEJICKO_00107 |
120282 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
693T>C |
Arg231Arg |
M0003426 |
ANEJICKO_00108 |
120933 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1111C>T |
Leu371Leu |
M0003427 |
ANEJICKO_00108 |
121242 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
802A>C |
Arg268Arg |
M0003428 |
ANEJICKO_00108 |
121417 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
627A>G |
Val209Val |
M0003429 |
ANEJICKO_00108 |
121531 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
513C>T |
Arg171Arg |
M0003430 |
ANEJICKO_00108 |
121702 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
342T>C |
Gly114Gly |
M0003431 |
ANEJICKO_00108 |
121708 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
336G>A |
Ala112Ala |
M0003432 |
ANEJICKO_00108 |
121882 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
162C>T |
Ala54Ala |
M0003433 |
ANEJICKO_00109 |
122178 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1211G>T |
Arg404Leu |
M0003434 |
ANEJICKO_00109 |
122249 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1140C>T |
Asp380Asp |
M0003435 |
ANEJICKO_00109 |
122288 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1101C>T |
Val367Val |
M0003436 |
ANEJICKO_00109 |
122384 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1005T>G |
Gly335Gly |
M0003437 |
ANEJICKO_00109 |
122501 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
888C>T |
Asp296Asp |
M0003438 |
ANEJICKO_00109 |
122549 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
840C>A |
Ala280Ala |
M0003439 |
ANEJICKO_00109 |
122573 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
816A>C |
Gly272Gly |
M0003440 |
ANEJICKO_00109 |
122838 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
551C>T |
Pro184Leu |
M0003441 |
ANEJICKO_00109 |
122927 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
462G>A |
Glu154Glu |
M0003442 |
ANEJICKO_00109 |
122972 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
417G>A |
Glu139Glu |
M0003443 |
ANEJICKO_00109 |
123110 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
279C>A |
Gly93Gly |
M0003444 |
ANEJICKO_00109 |
123119 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
270C>G |
Ala90Ala |
M0003445 |
ANEJICKO_00109 |
123197 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
192G>A |
Ser64Ser |
M0003446 |
ANEJICKO_00110 |
123460 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
723C>G |
Ser241Ser |
M0003447 |
ANEJICKO_00110 |
123565 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
618A>G |
Thr206Thr |
M0003448 |
ANEJICKO_00110 |
123577 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
606G>C |
Gly202Gly |
M0003449 |
ANEJICKO_00110 |
123595 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
588G>A |
Ala196Ala |
M0003450 |
ANEJICKO_00110 |
123600 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
583C>G |
Leu195Val |
M0003451 |
ANEJICKO_00110 |
123793 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
390A>G |
Lys130Lys |
M0003452 |
ANEJICKO_00108 |
125145 |
7 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3102A>C |
None |
M0003453 |
ANEJICKO_00108 |
125151 |
7 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3108A>C |
None |
M0003454 |
ANEJICKO_00112 |
125509 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
706C>T |
Leu236Leu |
M0003455 |
ANEJICKO_00112 |
125672 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
543G>A |
Ala181Ala |
M0003456 |
ANEJICKO_00112 |
126053 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
162G>C |
Ala54Ala |
M0003457 |
ANEJICKO_00113 |
127129 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
708C>G |
Thr236Thr |
M0003458 |
ANEJICKO_00114 |
127504 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Ala49Ala |
M0003459 |
ANEJICKO_00114 |
128110 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
753G>A |
Ala251Ala |
M0003460 |
ANEJICKO_00115 |
128794 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
259T>C |
Leu87Leu |
M0003461 |
ANEJICKO_00115 |
129069 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
534G>C |
Ala178Ala |
M0003462 |
ANEJICKO_00115 |
129210 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
675A>G |
Pro225Pro |
M0003463 |
ANEJICKO_00115 |
129444 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
909C>T |
Ala303Ala |
M0003464 |
ANEJICKO_00115 |
129447 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
912A>C |
Ala304Ala |
M0003465 |
ANEJICKO_00115 |
129453 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
918G>C |
Val306Val |
M0003466 |
ANEJICKO_00115 |
129486 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
951C>T |
Asn317Asn |
M0003467 |
ANEJICKO_00115 |
129525 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
990C>G |
Pro330Pro |
M0003468 |
ANEJICKO_00115 |
129528 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
993A>G |
Gln331Gln |
M0003469 |
ANEJICKO_00115 |
129537 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1002G>A |
Ala334Ala |
M0003470 |
ANEJICKO_00115 |
129717 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1182G>A |
Gln394Gln |
M0003471 |
ANEJICKO_00116 |
129825 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
48T>C |
Ala16Ala |
M0003472 |
ANEJICKO_00116 |
129829 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
52T>A |
Ser18Thr |
M0003473 |
ANEJICKO_00116 |
129861 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
84T>G |
Val28Val |
M0003474 |
ANEJICKO_00116 |
130098 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
321C>T |
Pro107Pro |
M0003475 |
ANEJICKO_00116 |
130101 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
324G>C |
Ala108Ala |
M0003476 |
ANEJICKO_00116 |
130275 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
498C>A |
Ala166Ala |
M0003477 |
ANEJICKO_00116 |
130278 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
501G>C |
Ala167Ala |
M0003478 |
ANEJICKO_00116 |
130281 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
504C>T |
Ala168Ala |
M0003479 |
ANEJICKO_00116 |
130284 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
507A>C |
Ala169Ala |
M0003480 |
ANEJICKO_00116 |
130301 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
524A>G |
Asp175Gly |
M0003481 |
ANEJICKO_00116 |
130311 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
534T>C |
Pro178Pro |
M0003482 |
ANEJICKO_00116 |
130368 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
591G>A |
Glu197Glu |
M0003483 |
ANEJICKO_00116 |
130380 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
603G>C |
Thr201Thr |
M0003484 |
ANEJICKO_00116 |
130382 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
605G>C |
Gly202Ala |
M0003485 |
ANEJICKO_00116 |
130383 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
606C>G |
Gly202Gly |
M0003486 |
ANEJICKO_00116 |
130410 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
633G>C |
Ala211Ala |
M0003487 |
ANEJICKO_00116 |
130422 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
645T>G |
Ala215Ala |
M0003488 |
ANEJICKO_00116 |
130450 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
673C>A |
Arg225Arg |
M0003489 |
ANEJICKO_00116 |
130451 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
674G>A |
Arg225Gln |
M0003490 |
ANEJICKO_00116 |
130464 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
687C>G |
Thr229Thr |
M0003491 |
ANEJICKO_00116 |
130467 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
690T>C |
Gly230Gly |
M0003492 |
ANEJICKO_00116 |
130485 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
708C>G |
Thr236Thr |
M0003493 |
ANEJICKO_00116 |
130488 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
711G>A |
Gly237Gly |
M0003494 |
ANEJICKO_00116 |
130683 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
906T>C |
Val302Val |
M0003495 |
ANEJICKO_00116 |
130716 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
939T>G |
Val313Val |
M0003496 |
ANEJICKO_00116 |
130887 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1110T>C |
Pro370Pro |
M0003497 |
ANEJICKO_00117 |
131356 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
111C>G |
Asp37Glu |
M0003498 |
ANEJICKO_00117 |
131686 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
441C>T |
Phe147Phe |
M0003499 |
ANEJICKO_00117 |
131761 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
516C>G |
Ser172Ser |
M0003500 |
ANEJICKO_00117 |
131899 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
654G>A |
Val218Val |
M0003501 |
ANEJICKO_00117 |
131992 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
747G>A |
Glu249Glu |
M0003502 |
ANEJICKO_00118 |
132393 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
117C>T |
Asp39Asp |
M0003503 |
ANEJICKO_00118 |
132624 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
348G>A |
Ala116Ala |
M0003504 |
ANEJICKO_00118 |
132636 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
360G>A |
Ala120Ala |
M0003505 |
ANEJICKO_00118 |
132675 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
399T>C |
Asp133Asp |
M0003506 |
ANEJICKO_00118 |
132765 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
489G>C |
Glu163Asp |
M0003507 |
ANEJICKO_00118 |
132780 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
504G>A |
Glu168Glu |
M0003508 |
ANEJICKO_00118 |
133014 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
738T>C |
Arg246Arg |
M0003509 |
ANEJICKO_00118 |
133142 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
866G>A |
Arg289Gln |
M0003510 |
ANEJICKO_00119 |
133151 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-186G>C |
None |
M0003511 |
ANEJICKO_00119 |
133168 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-169G>T |
None |
M0003512 |
ANEJICKO_00119 |
133204 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-133G>A |
None |
M0003513 |
ANEJICKO_00119 |
133228 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-109G>T |
None |
M0003514 |
ANEJICKO_00119 |
133238 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-99C>A |
None |
M0003515 |
ANEJICKO_00119 |
133298 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-39G>A |
None |
M0003516 |
ANEJICKO_00119 |
133312 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-25G>A |
None |
M0003517 |
ANEJICKO_00119 |
133332 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-5G>A |
None |
M0003518 |
ANEJICKO_00119 |
133384 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
48A>G |
Gln16Gln |
M0003519 |
ANEJICKO_00119 |
133393 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
57T>C |
Asp19Asp |
M0003520 |
ANEJICKO_00119 |
133396 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
60T>A |
Arg20Arg |
M0003521 |
ANEJICKO_00119 |
133400 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
64A>G |
Asn22Asp |
M0003522 |
ANEJICKO_00119 |
133412 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
76A>G |
Asn26Asp |
M0003523 |
ANEJICKO_00119 |
133414 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
78C>T |
Asn26Asn |
M0003524 |
ANEJICKO_00119 |
133468 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
132G>A |
Ala44Ala |
M0003525 |
ANEJICKO_00119 |
133691 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
355T>C |
Leu119Leu |
M0003526 |
ANEJICKO_00119 |
133969 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
633G>A |
Ala211Ala |
M0003527 |
ANEJICKO_00119 |
134223 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
887C>T |
Thr296Met |
M0003528 |
ANEJICKO_00119 |
134296 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
960T>C |
Gly320Gly |
M0003529 |
ANEJICKO_00119 |
134375 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1039C>T |
Leu347Leu |
M0003530 |
ANEJICKO_00120 |
134420 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-123C>T |
None |
M0003531 |
ANEJICKO_00120 |
134497 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-46G>A |
None |
M0003532 |
ANEJICKO_00113 |
126868 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
447C>T |
Asn149Asn |
M0003533 |
ANEJICKO_00114 |
128197 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
840C>G |
Gly280Gly |
M0003534 |
ANEJICKO_00066 |
68173 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
57T>C |
Ser19Ser |
M0003535 |
ANEJICKO_00066 |
68245 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
129C>T |
Asp43Asp |
M0003536 |
ANEJICKO_00066 |
68248 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
132G>C |
Gly44Gly |
M0003537 |
ANEJICKO_00066 |
68458 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
342G>A |
Glu114Glu |
M0003538 |
ANEJICKO_00066 |
68617 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
501G>A |
Glu167Glu |
M0003539 |
ANEJICKO_00066 |
68834 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
718C>T |
Leu240Leu |
M0003540 |
ANEJICKO_00066 |
68980 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
864C>G |
Ser288Ser |
M0003541 |
ANEJICKO_00066 |
68984 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
868T>A |
Ser290Thr |
M0003542 |
ANEJICKO_00066 |
68986 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
870C>A |
Ser290Ser |
M0003543 |
ANEJICKO_00066 |
68992 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
876T>C |
Ile292Ile |
M0003544 |
ANEJICKO_00066 |
69006 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
890A>G |
Asp297Gly |
M0003545 |
ANEJICKO_00066 |
69016 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
900T>C |
Ser300Ser |
M0003546 |
ANEJICKO_00066 |
69043 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
927C>T |
Tyr309Tyr |
M0003547 |
ANEJICKO_00066 |
69055 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
939C>T |
Arg313Arg |
M0003548 |
ANEJICKO_00066 |
69088 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
972T>C |
Arg324Arg |
M0003549 |
ANEJICKO_00066 |
69325 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1209A>G |
Glu403Glu |
M0003550 |
ANEJICKO_00066 |
69370 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1254A>C |
Arg418Arg |
M0003551 |
ANEJICKO_00066 |
69407 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1291T>C |
Tyr431His |
M0003552 |
ANEJICKO_00067 |
69421 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2T>C |
None |
M0003553 |
ANEJICKO_00067 |
69426 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
4T>C |
Ser2Pro |
M0003554 |
ANEJICKO_00067 |
69672 |
7 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
250C>G |
Pro84Ala |
M0003555 |
ANEJICKO_00067 |
69680 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
258T>C |
Ala86Ala |
M0003556 |
ANEJICKO_00067 |
70134 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
712G>T |
Ala238Ser |
M0003557 |
ANEJICKO_00067 |
70145 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
723A>G |
Gln241Gln |
M0003558 |
ANEJICKO_00067 |
70181 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
759C>G |
Leu253Leu |
M0003559 |
ANEJICKO_00067 |
70235 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
813C>G |
Pro271Pro |
M0003560 |
ANEJICKO_00067 |
70370 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
948G>A |
Gln316Gln |
M0003561 |
ANEJICKO_00067 |
70379 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
957C>A |
Ala319Ala |
M0003562 |
ANEJICKO_00067 |
70448 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1026C>G |
Val342Val |
M0003563 |
ANEJICKO_00067 |
70539 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1117T>A |
Ser373Thr |
M0003564 |
ANEJICKO_00068 |
70823 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
16A>C |
Ile6Leu |
M0003565 |
ANEJICKO_00068 |
70873 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
66G>C |
Pro22Pro |
M0003566 |
ANEJICKO_00068 |
70971 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
164T>C |
Leu55Pro |
M0003567 |
ANEJICKO_00068 |
71041 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
234G>A |
Ala78Ala |
M0003568 |
ANEJICKO_00068 |
71065 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Arg86Arg |
M0003569 |
ANEJICKO_00068 |
71128 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
321C>G |
Leu107Leu |
M0003570 |
ANEJICKO_00068 |
71361 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
554T>C |
Val185Ala |
M0003571 |
ANEJICKO_00068 |
71380 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
573A>G |
Thr191Thr |
M0003572 |
ANEJICKO_00068 |
71392 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
585T>C |
Thr195Thr |
M0003573 |
ANEJICKO_00068 |
71443 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Gly212Gly |
M0003574 |
ANEJICKO_00068 |
71449 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
642C>A |
Pro214Pro |
M0003575 |
ANEJICKO_00068 |
71459 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
652A>G |
Thr218Ala |
M0003576 |
ANEJICKO_00068 |
71731 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
924C>A |
Ala308Ala |
M0003577 |
ANEJICKO_00068 |
71791 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
984C>T |
Arg328Arg |
M0003578 |
ANEJICKO_00068 |
71816 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1009C>T |
Leu337Leu |
M0003579 |
ANEJICKO_00068 |
71831 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1024C>A |
Leu342Met |
M0003580 |
ANEJICKO_00068 |
71833 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1026G>C |
Leu342Leu |
M0003581 |
ANEJICKO_00068 |
71837 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1030G>A |
Val344Ile |
M0003582 |
ANEJICKO_00068 |
71838 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1031T>C |
Val344Ala |
M0003583 |
ANEJICKO_00069 |
72000 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
51T>C |
His17His |
M0003584 |
ANEJICKO_00069 |
72057 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
108G>A |
Gly36Gly |
M0003585 |
ANEJICKO_00069 |
72058 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
109C>A |
Arg37Ser |
M0003586 |
ANEJICKO_00069 |
72084 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
135C>A |
Ala45Ala |
M0003587 |
ANEJICKO_00069 |
72086 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
137C>A |
Pro46Gln |
M0003588 |
ANEJICKO_00069 |
72225 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
276C>T |
Asp92Asp |
M0003589 |
ANEJICKO_00069 |
72759 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
810T>C |
His270His |
M0003590 |
ANEJICKO_00069 |
72813 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
864T>C |
Gly288Gly |
M0003591 |
ANEJICKO_00069 |
73260 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1311C>A |
Gly437Gly |
M0003592 |
ANEJICKO_00071 |
74502 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
231G>A |
Leu77Leu |
M0003593 |
ANEJICKO_00074 |
77094 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1104G>C |
Gly368Gly |
M0003594 |
ANEJICKO_00071 |
78499 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3767C>T |
None |
M0003595 |
ANEJICKO_00075 |
78536 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1700C>A |
Ala567Glu |
M0003596 |
ANEJICKO_00075 |
78537 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1699G>A |
Ala567Thr |
M0003597 |
ANEJICKO_00075 |
78539 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1697A>T |
Gln566Leu |
M0003598 |
ANEJICKO_00075 |
78540 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1696C>A |
Gln566Lys |
M0003599 |
ANEJICKO_00075 |
78550 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1686A>C |
Ala562Ala |
M0003600 |
ANEJICKO_00075 |
78552 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1684G>A |
Ala562Thr |
M0003601 |
ANEJICKO_00075 |
78562 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1674A>C |
Ala558Ala |
M0003602 |
ANEJICKO_00075 |
78579 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1657G>C |
Ala553Pro |
M0003603 |
ANEJICKO_00075 |
78736 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1500A>C |
Ile500Ile |
M0003604 |
ANEJICKO_00075 |
78775 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1461C>T |
Ile487Ile |
M0003605 |
ANEJICKO_00085 |
95171 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
930G>A |
Gln310Gln |
M0003606 |
ANEJICKO_00085 |
95174 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
933C>G |
Ser311Ser |
M0003607 |
ANEJICKO_00086 |
96237 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
375G>A |
Glu125Glu |
M0003608 |
ANEJICKO_00092 |
103736 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
693G>A |
Ala231Ala |
M0003609 |
ANEJICKO_00093 |
104548 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
282G>A |
Pro94Pro |
M0003610 |
ANEJICKO_00098 |
109919 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
569G>T |
Arg190Met |
M0003611 |
ANEJICKO_00056 |
57265 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
803A>G |
Asn268Ser |
M0003612 |
ANEJICKO_00059 |
60720 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
129A>C |
Thr43Thr |
M0003613 |
ANEJICKO_00059 |
60831 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
240G>T |
Ser80Ser |
M0003614 |
ANEJICKO_00059 |
60945 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
354T>C |
Ile118Ile |
M0003615 |
ANEJICKO_00059 |
61089 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
498G>C |
Ser166Ser |
M0003616 |
ANEJICKO_00059 |
61431 |
8 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
840C>A |
Asp280Glu |
M0003617 |
ANEJICKO_00060 |
61659 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
75A>G |
Ala25Ala |
M0003618 |
ANEJICKO_00060 |
61661 |
8 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
77A>C |
His26Pro |
M0003619 |
ANEJICKO_00060 |
62430 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
846G>A |
Lys282Lys |
M0003620 |
ANEJICKO_00060 |
62431 |
8 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
847A>T |
Thr283Ser |
M0003621 |
ANEJICKO_00060 |
62433 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
849C>G |
Thr283Thr |
M0003622 |
ANEJICKO_00060 |
62434 |
8 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
850G>C |
Val284Leu |
M0003623 |
ANEJICKO_00060 |
62436 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
852C>G |
Val284Val |
M0003624 |
ANEJICKO_00061 |
62538 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
70T>C |
Leu24Leu |
M0003625 |
ANEJICKO_00061 |
62541 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
73T>C |
Leu25Leu |
M0003626 |
ANEJICKO_00061 |
62594 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
126T>C |
Pro42Pro |
M0003627 |
ANEJICKO_00061 |
62705 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
237C>G |
Arg79Arg |
M0003628 |
ANEJICKO_00061 |
63104 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
636G>C |
Arg212Arg |
M0003629 |
ANEJICKO_00061 |
63233 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
765C>T |
Ala255Ala |
M0003630 |
ANEJICKO_00057 |
63282 |
7 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3948G>A |
None |
M0003631 |
ANEJICKO_00062 |
63520 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
192G>C |
Ser64Ser |
M0003632 |
ANEJICKO_00062 |
63574 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
246T>C |
Ala82Ala |
M0003633 |
ANEJICKO_00062 |
63898 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
570G>A |
Gln190Gln |
M0003634 |
ANEJICKO_00057 |
64119 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4785G>T |
None |
M0003635 |
ANEJICKO_00063 |
64232 |
8 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
74G>C |
Ser25Thr |
M0003636 |
ANEJICKO_00063 |
64242 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
84A>G |
Gln28Gln |
M0003637 |
ANEJICKO_00063 |
64602 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
444C>T |
Ile148Ile |
M0003638 |
ANEJICKO_00063 |
64695 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
537C>T |
Asp179Asp |
M0003639 |
ANEJICKO_00063 |
64797 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
639G>A |
Val213Val |
M0003640 |
ANEJICKO_00063 |
64848 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
690G>C |
Ala230Ala |
M0003641 |
ANEJICKO_00063 |
64908 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
750T>C |
Phe250Phe |
M0003642 |
ANEJICKO_00063 |
64963 |
8 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
805T>G |
Ser269Ala |
M0003643 |
ANEJICKO_00063 |
64974 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
816G>A |
Glu272Glu |
M0003644 |
ANEJICKO_00063 |
64992 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
834T>C |
Ala278Ala |
M0003645 |
ANEJICKO_00063 |
65184 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1026C>T |
His342His |
M0003646 |
ANEJICKO_00063 |
65310 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1152C>T |
Ile384Ile |
M0003647 |
ANEJICKO_00063 |
65394 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1236C>T |
His412His |
M0003648 |
ANEJICKO_00063 |
65469 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1311C>G |
Arg437Arg |
M0003649 |
ANEJICKO_00063 |
65613 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1455C>G |
Pro485Pro |
M0003650 |
ANEJICKO_00063 |
65616 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1458T>C |
His486His |
M0003651 |
ANEJICKO_00063 |
65619 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1461C>G |
Leu487Leu |
M0003652 |
ANEJICKO_00064 |
65750 |
8 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-20C>T |
None |
M0003653 |
ANEJICKO_00064 |
65751 |
8 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-19C>A |
None |
M0003654 |
ANEJICKO_00064 |
65756 |
8 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-14T>C |
None |
M0003655 |
ANEJICKO_00064 |
65805 |
8 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
36G>T |
Ala12Ala |
M0003656 |
ANEJICKO_00064 |
66054 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
285C>G |
Ser95Ser |
M0003657 |
ANEJICKO_00064 |
66072 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
303C>T |
Gly101Gly |
M0003658 |
ANEJICKO_00064 |
66237 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
468C>T |
Gly156Gly |
M0003659 |
ANEJICKO_00064 |
66363 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
594G>C |
Pro198Pro |
M0003660 |
ANEJICKO_00064 |
66384 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
615C>T |
Gly205Gly |
M0003661 |
ANEJICKO_00064 |
66507 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
738T>C |
Ala246Ala |
M0003662 |
ANEJICKO_00064 |
66618 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
849G>A |
Gln283Gln |
M0003663 |
ANEJICKO_00064 |
66624 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
855G>C |
Ser285Ser |
M0003664 |
ANEJICKO_00064 |
66750 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
981C>T |
His327His |
M0003665 |
ANEJICKO_00064 |
66894 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1125C>T |
Phe375Phe |
M0003666 |
ANEJICKO_00064 |
66933 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1164C>A |
Ser388Ser |
M0003667 |
ANEJICKO_00064 |
67074 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1305A>C |
Gly435Gly |
M0003668 |
ANEJICKO_00064 |
67086 |
9 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1317A>C |
Arg439Arg |
M0003669 |
ANEJICKO_00064 |
67359 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1590T>C |
Asp530Asp |
M0003670 |
ANEJICKO_00064 |
67362 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1593C>T |
Gly531Gly |
M0003671 |
ANEJICKO_00056 |
57204 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
864C>A |
Ala288Ala |
M0003672 |
ANEJICKO_00004 |
1985 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
959G>A |
Arg320Gln |
M0003673 |
ANEJICKO_00004 |
2455 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
489A>C |
Arg163Arg |
M0003674 |
ANEJICKO_00004 |
2497 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
447T>C |
His149His |
M0003675 |
ANEJICKO_00004 |
2514 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
430A>C |
Arg144Arg |
M0003676 |
ANEJICKO_00004 |
2542 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
402C>A |
Gly134Gly |
M0003677 |
ANEJICKO_00004 |
2590 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
354C>G |
Ser118Arg |
M0003678 |
ANEJICKO_00004 |
2667 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
277C>A |
Leu93Met |
M0003679 |
ANEJICKO_00004 |
2758 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
186A>G |
Gly62Gly |
M0003680 |
ANEJICKO_00004 |
2895 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
49T>C |
Leu17Leu |
M0003681 |
ANEJICKO_00004 |
2932 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
12G>A |
Arg4Arg |
M0003682 |
ANEJICKO_00005 |
3037 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
577T>C |
Leu193Leu |
M0003683 |
ANEJICKO_00007 |
4570 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
99C>T |
Gly33Gly |
M0003684 |
ANEJICKO_00007 |
4606 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
135A>G |
Pro45Pro |
M0003685 |
ANEJICKO_00007 |
4901 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
430A>G |
Ile144Val |
M0003686 |
ANEJICKO_00007 |
4975 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
504C>T |
His168His |
M0003687 |
ANEJICKO_00007 |
5211 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
740T>C |
Val247Ala |
M0003688 |
ANEJICKO_00007 |
5485 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1014G>C |
Gly338Gly |
M0003689 |
ANEJICKO_00007 |
5584 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1113A>G |
Gln371Gln |
M0003690 |
ANEJICKO_00008 |
5692 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1392G>T |
Arg464Arg |
M0003691 |
ANEJICKO_00008 |
5731 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1353G>A |
Val451Val |
M0003692 |
ANEJICKO_00008 |
5788 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1296G>C |
Ala432Ala |
M0003693 |
ANEJICKO_00008 |
5791 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1293C>A |
Ala431Ala |
M0003694 |
ANEJICKO_00008 |
5843 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1241G>C |
Gly414Ala |
M0003695 |
ANEJICKO_00008 |
5851 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1233C>G |
Ala411Ala |
M0003696 |
ANEJICKO_00008 |
5906 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1178G>A |
Arg393Gln |
M0003697 |
ANEJICKO_00008 |
6049 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1035A>G |
Ala345Ala |
M0003698 |
ANEJICKO_00008 |
6217 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
867C>T |
Ile289Ile |
M0003699 |
ANEJICKO_00008 |
6486 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
598A>C |
Asn200His |
M0003700 |
ANEJICKO_00008 |
6539 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
545G>A |
Gly182Asp |
M0003701 |
ANEJICKO_00008 |
6808 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
276A>C |
Val92Val |
M0003702 |
ANEJICKO_00008 |
6838 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
246T>C |
Ser82Ser |
M0003703 |
ANEJICKO_00008 |
7018 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Ala22Ala |
M0003704 |
ANEJICKO_00008 |
7030 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
54C>A |
Ile18Ile |
M0003705 |
ANEJICKO_00008 |
7033 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
51T>C |
His17His |
M0003706 |
ANEJICKO_00004 |
7134 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4191C>T |
None |
M0003707 |
ANEJICKO_00004 |
7155 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4212G>A |
None |
M0003708 |
ANEJICKO_00004 |
7157 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4214T>G |
None |
M0003709 |
ANEJICKO_00004 |
7264 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4321G>C |
None |
M0003710 |
ANEJICKO_00004 |
7268 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4325G>T |
None |
M0003711 |
ANEJICKO_00004 |
7272 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4329A>T |
None |
M0003712 |
ANEJICKO_00010 |
8199 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
424T>C |
Leu142Leu |
M0003713 |
ANEJICKO_00010 |
8242 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
381G>C |
Glu127Asp |
M0003714 |
ANEJICKO_00010 |
8245 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
378G>C |
Pro126Pro |
M0003715 |
ANEJICKO_00010 |
8437 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
Asn62Asn |
M0003716 |
ANEJICKO_00010 |
8482 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
141C>T |
Gly47Gly |
M0003717 |
ANEJICKO_00010 |
8506 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
117T>C |
Arg39Arg |
M0003718 |
ANEJICKO_00010 |
8569 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
54C>T |
Ala18Ala |
M0003719 |
ANEJICKO_00010 |
8572 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
51T>C |
Pro17Pro |
M0003720 |
ANEJICKO_00012 |
9389 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
675C>T |
Asn225Asn |
M0003721 |
ANEJICKO_00014 |
12149 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
267C>T |
Tyr89Tyr |
M0003722 |
ANEJICKO_00051 |
52134 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1365C>T |
Gly455Gly |
M0003723 |
ANEJICKO_00053 |
53472 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
114G>T |
Ala38Ala |
M0003724 |
ANEJICKO_00007 |
5338 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
867T>C |
Asp289Asp |
M0003725 |
ANEJICKO_00007 |
5351 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
880G>A |
Ala294Thr |
M0003726 |
ANEJICKO_00059 |
60739 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
148C>T |
Leu50Leu |
M0003727 |
ANEJICKO_00059 |
61363 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
772A>G |
Thr258Ala |
M0003728 |
ANEJICKO_00059 |
61377 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
786A>G |
Gln262Gln |
M0003729 |
ANEJICKO_00059 |
61378 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
787A>G |
Ser263Gly |
M0003730 |
ANEJICKO_00059 |
61380 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
789C>T |
Ser263Ser |
M0003731 |
ANEJICKO_00059 |
61413 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
822C>G |
Leu274Leu |
M0003732 |
ANEJICKO_00059 |
61467 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
876G>C |
Pro292Pro |
M0003733 |
ANEJICKO_00059 |
61479 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
888A>G |
Glu296Glu |
M0003734 |
ANEJICKO_00060 |
61947 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
363C>G |
Pro121Pro |
M0003735 |
ANEJICKO_00060 |
61956 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
372C>T |
Ile124Ile |
M0003736 |
ANEJICKO_00060 |
62001 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
417T>C |
Phe139Phe |
M0003737 |
ANEJICKO_00060 |
62004 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
420C>G |
Val140Val |
M0003738 |
ANEJICKO_00062 |
63577 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
249A>G |
Glu83Glu |
M0003739 |
ANEJICKO_00062 |
63580 |
7 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
252G>A |
Glu84Glu |
M0003740 |
ANEJICKO_00064 |
66177 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
408G>C |
Leu136Leu |
M0003741 |
ANEJICKO_00064 |
66693 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
924C>A |
Ala308Ala |
M0003742 |
ANEJICKO_00065 |
67877 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
351G>A |
Arg117Arg |
M0003743 |
ANEJICKO_00065 |
67886 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
360C>T |
Val120Val |
M0003744 |
ANEJICKO_00065 |
67953 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
427A>G |
Asn143Asp |
M0003745 |
ANEJICKO_00066 |
68749 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
633C>G |
Leu211Leu |
M0003746 |
ANEJICKO_00066 |
69286 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1170C>T |
Pro390Pro |
M0003747 |
ANEJICKO_00064 |
66141 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
372G>T |
Val124Val |
M0003748 |
ANEJICKO_00064 |
66153 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
384C>G |
Ala128Ala |
M0003749 |
ANEJICKO_00064 |
66156 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
387C>T |
Asn129Asn |
M0003750 |
ANEJICKO_00066 |
68870 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
754G>C |
Gly252Arg |
M0003751 |
ANEJICKO_00067 |
69775 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
353T>G |
Val118Gly |
M0003752 |
ANEJICKO_00067 |
70724 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1302C>G |
Thr434Thr |
M0003753 |
ANEJICKO_00068 |
70972 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
165T>C |
Leu55Leu |
M0003754 |
ANEJICKO_00068 |
71351 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
544G>C |
Gly182Arg |
M0003755 |
ANEJICKO_00068 |
71611 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
804C>T |
Asn268Asn |
M0003756 |
ANEJICKO_00068 |
71740 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
933A>G |
Ala311Ala |
M0003757 |
ANEJICKO_00068 |
71749 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
942A>G |
Ile314Met |
M0003758 |
ANEJICKO_00068 |
71792 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
985C>T |
Pro329Ser |
M0003759 |
ANEJICKO_00068 |
71893 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1086C>G |
Thr362Thr |
M0003760 |
ANEJICKO_00069 |
72591 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
642C>G |
Pro214Pro |
M0003761 |
ANEJICKO_00113 |
126977 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
556G>A |
Ala186Thr |
M0003762 |
ANEJICKO_00115 |
129060 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
525C>A |
Gly175Gly |
M0003763 |
ANEJICKO_00115 |
129066 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
531T>C |
Tyr177Tyr |
M0003764 |
ANEJICKO_00115 |
129366 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
831C>T |
Phe277Phe |
M0003765 |
ANEJICKO_00020 |
16668 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Asp212Asp |
M0003766 |
ANEJICKO_00021 |
17402 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
579A>G |
Glu193Glu |
M0003767 |
ANEJICKO_00021 |
17795 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
186T>G |
Ala62Ala |
M0003768 |
ANEJICKO_00021 |
17801 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
180T>C |
Asp60Asp |
M0003769 |
ANEJICKO_00021 |
17828 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
153C>G |
Leu51Leu |
M0003770 |
ANEJICKO_00021 |
17831 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
150T>C |
Tyr50Tyr |
M0003771 |
ANEJICKO_00016 |
17987 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4317C>T |
None |
M0003772 |
ANEJICKO_00016 |
18085 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4415C>T |
None |
M0003773 |
ANEJICKO_00022 |
25178 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3356A>C |
None |
M0003774 |
ANEJICKO_00022 |
25260 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3438C>T |
None |
M0003775 |
ANEJICKO_00027 |
25471 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1680C>T |
Tyr560Tyr |
M0003776 |
ANEJICKO_00027 |
25516 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1635T>C |
Gly545Gly |
M0003777 |
ANEJICKO_00038 |
39179 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
474G>A |
Ala158Ala |
M0003778 |
ANEJICKO_00038 |
39400 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
695G>A |
Arg232His |
M0003779 |
ANEJICKO_00038 |
39497 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
792A>G |
Ala264Ala |
M0003780 |
ANEJICKO_00038 |
39504 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
799A>C |
Thr267Pro |
M0003781 |
ANEJICKO_00038 |
39512 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
807T>C |
Pro269Pro |
M0003782 |
ANEJICKO_00038 |
39860 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1155A>G |
Glu385Glu |
M0003783 |
ANEJICKO_00038 |
39866 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1161C>A |
Ala387Ala |
M0003784 |
ANEJICKO_00038 |
40166 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1461G>A |
Ala487Ala |
M0003785 |
ANEJICKO_00039 |
40237 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
66G>C |
Ala22Ala |
M0003786 |
ANEJICKO_00039 |
40240 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
69G>A |
Val23Val |
M0003787 |
ANEJICKO_00039 |
40243 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
72C>T |
Gly24Gly |
M0003788 |
ANEJICKO_00039 |
41029 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
858C>T |
Ala286Ala |
M0003789 |
ANEJICKO_00040 |
41407 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Glu22Glu |
M0003790 |
ANEJICKO_00040 |
41504 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
163G>A |
Val55Ile |
M0003791 |
ANEJICKO_00040 |
41821 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
480G>A |
Glu160Glu |
M0003792 |
ANEJICKO_00040 |
42004 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
663G>C |
Pro221Pro |
M0003793 |
ANEJICKO_00041 |
42252 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
156A>C |
Ala52Ala |
M0003794 |
ANEJICKO_00041 |
42327 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
231A>G |
Val77Val |
M0003795 |
ANEJICKO_00041 |
42373 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
277C>T |
Leu93Leu |
M0003796 |
ANEJICKO_00041 |
42446 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
350G>A |
Arg117Lys |
M0003797 |
ANEJICKO_00041 |
42500 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
404C>T |
Ala135Val |
M0003798 |
ANEJICKO_00041 |
42513 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
417A>C |
Ala139Ala |
M0003799 |
ANEJICKO_00041 |
42516 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
420G>A |
Ala140Ala |
M0003800 |
ANEJICKO_00041 |
42519 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
423C>G |
Ala141Ala |
M0003801 |
ANEJICKO_00041 |
42876 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
780C>T |
Pro260Pro |
M0003802 |
ANEJICKO_00042 |
43390 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
357A>G |
Glu119Glu |
M0003803 |
ANEJICKO_00042 |
43630 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
597G>C |
Leu199Leu |
M0003804 |
ANEJICKO_00042 |
43711 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
678G>C |
Val226Val |
M0003805 |
ANEJICKO_00043 |
43740 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
6G>A |
Thr2Thr |
M0003806 |
ANEJICKO_00043 |
43767 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
33G>T |
Ala11Ala |
M0003807 |
ANEJICKO_00043 |
43861 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
127A>G |
Arg43Gly |
M0003808 |
ANEJICKO_00044 |
43940 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
25T>C |
Leu9Leu |
M0003809 |
ANEJICKO_00044 |
44083 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
168T>C |
Arg56Arg |
M0003810 |
ANEJICKO_00044 |
44581 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
666C>T |
His222His |
M0003811 |
ANEJICKO_00110 |
123985 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
198T>C |
Asp66Asp |
M0003812 |
ANEJICKO_00110 |
124003 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
180C>A |
Ala60Ala |
M0003813 |
ANEJICKO_00115 |
128931 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
396A>T |
Ala132Ala |
M0003814 |
ANEJICKO_00119 |
133295 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-42G>A |
None |
M0003815 |
ANEJICKO_00120 |
134830 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
288G>C |
Ser96Ser |
M0003816 |
ANEJICKO_00120 |
134848 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
306C>G |
Ser102Ser |
M0003817 |
ANEJICKO_00120 |
134910 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
368T>C |
Val123Ala |
M0003818 |
ANEJICKO_00002 |
827 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
324T>C |
Asp108Asp |
M0003819 |
ANEJICKO_00002 |
1007 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
504A>C |
Ile168Ile |
M0003820 |
ANEJICKO_00002 |
1229 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
726C>G |
Val242Val |
M0003821 |
ANEJICKO_00002 |
1232 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
729G>A |
Ala243Ala |
M0003822 |
ANEJICKO_00004 |
2281 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
663C>T |
Asp221Asp |
M0003823 |
ANEJICKO_00008 |
5794 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1290T>G |
Arg430Arg |
M0003824 |
ANEJICKO_00008 |
5852 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1232C>T |
Ala411Val |
M0003825 |
ANEJICKO_00008 |
6100 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
984C>T |
Arg328Arg |
M0003826 |
ANEJICKO_00010 |
8380 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
243C>T |
Phe81Phe |
M0003827 |
ANEJICKO_00011 |
9075 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
81C>A |
Ala27Ala |
M0003828 |
ANEJICKO_00013 |
10540 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
997C>T |
Leu333Leu |
M0003829 |
ANEJICKO_00013 |
10568 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
969G>C |
Gly323Gly |
M0003830 |
ANEJICKO_00019 |
16413 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
102A>T |
Ala34Ala |
M0003831 |
ANEJICKO_00022 |
18180 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
3643A>G |
Ser1215Gly |
M0003832 |
ANEJICKO_00057 |
59077 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
His86His |
M0003833 |
ANEJICKO_00059 |
61104 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
513C>T |
Pro171Pro |
M0003834 |
ANEJICKO_00060 |
62136 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
552G>C |
Val184Val |
M0003835 |
ANEJICKO_00064 |
66612 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
843C>T |
Thr281Thr |
M0003836 |
ANEJICKO_00114 |
128464 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1107C>G |
Ser369Ser |
M0003837 |
ANEJICKO_00114 |
128467 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1110G>C |
Thr370Thr |
M0003838 |
ANEJICKO_00114 |
128470 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1113C>T |
Asn371Asn |
M0003839 |
ANEJICKO_00114 |
128473 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1116G>C |
Leu372Leu |
M0003840 |
ANEJICKO_00114 |
128476 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1119C>T |
Ile373Ile |
M0003841 |
ANEJICKO_00114 |
128479 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1122T>C |
Tyr374Tyr |
M0003842 |
ANEJICKO_00070 |
73958 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
594A>G |
Glu198Glu |
M0003843 |
ANEJICKO_00073 |
75875 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
504C>T |
Arg168Arg |
M0003844 |
ANEJICKO_00074 |
76796 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1402G>A |
Val468Ile |
M0003845 |
ANEJICKO_00074 |
76832 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1366T>A |
Ser456Thr |
M0003846 |
ANEJICKO_00075 |
78821 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1415A>G |
Lys472Arg |
M0003847 |
ANEJICKO_00075 |
78970 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1266T>A |
Val422Val |
M0003848 |
ANEJICKO_00075 |
78971 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1265T>C |
Val422Ala |
M0003849 |
ANEJICKO_00075 |
79036 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1200G>A |
Val400Val |
M0003850 |
ANEJICKO_00075 |
79485 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
751A>C |
Met251Leu |
M0003851 |
ANEJICKO_00075 |
79591 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
645C>G |
Ala215Ala |
M0003852 |
ANEJICKO_00075 |
79642 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
594G>A |
Glu198Glu |
M0003853 |
ANEJICKO_00075 |
80118 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
118C>A |
Arg40Arg |
M0003854 |
ANEJICKO_00076 |
80441 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2997T>C |
Thr999Thr |
M0003855 |
ANEJICKO_00076 |
80525 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2913T>C |
Thr971Thr |
M0003856 |
ANEJICKO_00076 |
80527 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2911A>G |
Thr971Ala |
M0003857 |
ANEJICKO_00076 |
80921 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2517C>A |
Ala839Ala |
M0003858 |
ANEJICKO_00076 |
81278 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2160T>C |
Phe720Phe |
M0003859 |
ANEJICKO_00076 |
81701 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1737G>T |
Leu579Leu |
M0003860 |
ANEJICKO_00076 |
81842 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1596C>G |
Leu532Leu |
M0003861 |
ANEJICKO_00076 |
82043 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1395T>C |
Asp465Asp |
M0003862 |
ANEJICKO_00076 |
82178 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1260C>T |
Leu420Leu |
M0003863 |
ANEJICKO_00076 |
82219 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1219T>G |
Ser407Ala |
M0003864 |
ANEJICKO_00019 |
16322 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
193C>A |
Leu65Ile |
M0003865 |
ANEJICKO_00022 |
18491 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
3332C>T |
Ala1111Val |
M0003866 |
ANEJICKO_00059 |
61275 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
684G>C |
Ala228Ala |
M0003867 |
ANEJICKO_00057 |
64122 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4788G>C |
None |
M0003868 |
ANEJICKO_00069 |
72529 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
580G>T |
Ala194Ser |
M0003869 |
ANEJICKO_00065 |
67962 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
436G>A |
Ala146Thr |
M0003870 |
ANEJICKO_00071 |
74310 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
423C>G |
Pro141Pro |
M0003871 |
ANEJICKO_00063 |
65517 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1359G>A |
Glu453Glu |
M0003872 |
ANEJICKO_00127 |
141551 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
810T>C |
Gly270Gly |
M0003873 |
ANEJICKO_00128 |
142642 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
106A>G |
Thr36Ala |
M0003874 |
ANEJICKO_00129 |
144163 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
102G>A |
Lys34Lys |
M0003875 |
ANEJICKO_00132 |
146592 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
822T>C |
Asp274Asp |
M0003876 |
ANEJICKO_00132 |
146634 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
780C>T |
Ile260Ile |
M0003877 |
ANEJICKO_00125 |
138162 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1573A>T |
Thr525Ser |
M0003878 |
ANEJICKO_00125 |
138388 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1347A>G |
Val449Val |
M0003879 |
ANEJICKO_00125 |
138667 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1068T>C |
Arg356Arg |
M0003880 |
ANEJICKO_00125 |
138880 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
855C>T |
Arg285Arg |
M0003881 |
ANEJICKO_00125 |
138897 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
838A>G |
Ser280Gly |
M0003882 |
ANEJICKO_00125 |
139438 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
297G>C |
Thr99Thr |
M0003883 |
ANEJICKO_00125 |
139594 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
141A>G |
Leu47Leu |
M0003884 |
ANEJICKO_00125 |
139649 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
86A>G |
His29Arg |
M0003885 |
ANEJICKO_00126 |
139978 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
756G>C |
Gly252Gly |
M0003886 |
ANEJICKO_00126 |
140077 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
657T>C |
Arg219Arg |
M0003887 |
ANEJICKO_00126 |
140230 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
504T>G |
Ser168Ser |
M0003888 |
ANEJICKO_00121 |
140780 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4930T>G |
None |
M0003889 |
ANEJICKO_00122 |
140875 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4558C>T |
None |
M0003890 |
ANEJICKO_00122 |
140945 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4628A>C |
None |
M0003891 |
ANEJICKO_00122 |
140978 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4661A>G |
None |
M0003892 |
ANEJICKO_00122 |
141039 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4722G>T |
None |
M0003893 |
ANEJICKO_00122 |
141042 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4725T>C |
None |
Analysis of virulence factors contributing to bacterial pathogenicity
This table presents virulence factors identified within the plasmid cluster.
Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.
Gene Name |
vf_gene_id |
vf_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
vf_category |
gene_description |
condition |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
ANEJICKO_00114 |
PHI:7214 |
STM14_1005 |
82.4 |
8.7e-191 |
8 |
388 |
0.9820 |
0.9897 |
rodents |
salmonellosis |
putative acyl-CoA dehydrogenase |
reduced virulence |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
Gene Name |
cazy_id |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
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 |
ANEJICKO_00008 |
2.A.3.1.9 |
76.4 |
9.3e-195 |
6 |
462 |
0.9703 |
0.9786 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.3 |
The Amino Acid-Polyamine-Organocation (APC) Family |
ANEJICKO_00046 |
2.A.7.37.1 |
97.6 |
9.4e-86 |
1 |
164 |
1.0000 |
1.0000 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.7 |
The Drug/Metabolite Transporter (DMT) Superfamily |