Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2822 |
Reference Plasmid |
DP1807004303_bin.2__NODE_2_length_77870_cov_7.279513 |
Reference Plasmid Size |
77870 |
Reference Plasmid GC Content |
0.60 |
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 |
M0062022 |
DEEHEKJG_00006 |
6064 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
336A>G |
Leu112Leu |
M0062023 |
DEEHEKJG_00006 |
6127 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
399T>C |
Phe133Phe |
M0062024 |
DEEHEKJG_00006 |
6193 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
465C>T |
Pro155Pro |
M0062025 |
DEEHEKJG_00006 |
6242 |
14 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
514A>G |
Ile172Val |
M0062026 |
DEEHEKJG_00007 |
7540 |
28 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
786T>G |
Ala262Ala |
M0062027 |
DEEHEKJG_00007 |
7597 |
29 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
843G>A |
Val281Val |
M0062028 |
DEEHEKJG_00007 |
7615 |
28 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
861A>T |
Ile287Ile |
M0062029 |
DEEHEKJG_00007 |
7661 |
30 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
907C>T |
Leu303Leu |
M0062030 |
DEEHEKJG_00007 |
7673 |
30 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
919G>A |
Asp307Asn |
M0062031 |
DEEHEKJG_00008 |
7776 |
34 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
84A>G |
Pro28Pro |
M0062032 |
DEEHEKJG_00008 |
7786 |
34 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
94C>T |
Leu32Leu |
M0062033 |
DEEHEKJG_00008 |
7839 |
31 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
147T>C |
Ala49Ala |
M0062034 |
DEEHEKJG_00008 |
7955 |
33 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
263T>C |
Val88Ala |
M0062035 |
DEEHEKJG_00008 |
8034 |
32 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
342C>T |
Ala114Ala |
M0062036 |
DEEHEKJG_00008 |
8052 |
147 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
360C>T |
Asp120Asp |
M0062037 |
DEEHEKJG_00008 |
8054 |
147 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
362T>C |
Val121Ala |
M0062038 |
DEEHEKJG_00008 |
8055 |
147 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
363T>A |
Val121Val |
M0062039 |
DEEHEKJG_00008 |
8056 |
147 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
364G>C |
Glu122Gln |
M0062040 |
DEEHEKJG_00008 |
8064 |
32 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
372C>T |
Val124Val |
M0062041 |
DEEHEKJG_00008 |
8067 |
43 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
375G>A |
Arg125Arg |
M0062042 |
DEEHEKJG_00008 |
8073 |
43 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
381G>A |
Gln127Gln |
M0062043 |
DEEHEKJG_00008 |
8104 |
32 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
412G>T |
Val138Leu |
M0062044 |
DEEHEKJG_00008 |
8137 |
32 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
445G>A |
Ala149Thr |
M0062045 |
DEEHEKJG_00008 |
8193 |
31 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
501C>T |
Asp167Asp |
M0062046 |
DEEHEKJG_00008 |
8230 |
31 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
538G>A |
Val180Ile |
M0062047 |
DEEHEKJG_00008 |
8313 |
120 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
621G>T |
Ala207Ala |
M0062048 |
DEEHEKJG_00008 |
8364 |
120 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
672G>A |
Gly224Gly |
M0062049 |
DEEHEKJG_00008 |
8400 |
33 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
708C>T |
Phe236Phe |
M0062050 |
DEEHEKJG_00008 |
8511 |
35 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
819T>C |
Gly273Gly |
M0062051 |
DEEHEKJG_00008 |
8592 |
37 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
900G>C |
Val300Val |
M0062052 |
DEEHEKJG_00009 |
8662 |
133 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
44G>T |
Gly15Val |
M0062053 |
DEEHEKJG_00009 |
8813 |
85 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
195G>C |
Glu65Asp |
M0062054 |
DEEHEKJG_00009 |
8888 |
120 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
270T>C |
His90His |
M0062055 |
DEEHEKJG_00009 |
8930 |
122 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
312G>C |
Val104Val |
M0062056 |
DEEHEKJG_00015 |
9216 |
27 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3144G>A |
None |
M0062057 |
DEEHEKJG_00015 |
9538 |
85 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2822T>C |
None |
M0062058 |
DEEHEKJG_00011 |
9664 |
89 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
420A>T |
Pro140Pro |
M0062059 |
DEEHEKJG_00011 |
9840 |
186 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
244T>C |
Tyr82His |
M0062060 |
DEEHEKJG_00011 |
9909 |
100 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
175G>T |
Gly59Cys |
M0062061 |
DEEHEKJG_00011 |
9935 |
150 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
149C>T |
Thr50Ile |
M0062062 |
DEEHEKJG_00011 |
10091 |
157 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-8T>G |
None |
M0062063 |
DEEHEKJG_00011 |
10094 |
50 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-11G>T |
None |
M0062064 |
DEEHEKJG_00011 |
10128 |
155 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-45A>G |
None |
M0062065 |
DEEHEKJG_00012 |
10141 |
50 |
Skin |
0.04 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
1253G>A |
Ter418Ter |
M0062066 |
DEEHEKJG_00012 |
10206 |
50 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1188G>A |
Val396Val |
M0062067 |
DEEHEKJG_00012 |
10221 |
50 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1173T>G |
His391Gln |
M0062068 |
DEEHEKJG_00012 |
10254 |
50 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1140G>A |
Glu380Glu |
M0062069 |
DEEHEKJG_00012 |
10260 |
50 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1134A>G |
Ala378Ala |
M0062070 |
DEEHEKJG_00012 |
10329 |
153 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1065T>C |
Asn355Asn |
M0062071 |
DEEHEKJG_00012 |
10335 |
47 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1059C>T |
Asn353Asn |
M0062072 |
DEEHEKJG_00012 |
10358 |
193 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1036T>C |
Ser346Pro |
M0062073 |
DEEHEKJG_00012 |
10392 |
53 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1002A>G |
Pro334Pro |
M0062074 |
DEEHEKJG_00012 |
10410 |
55 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
984C>A |
Pro328Pro |
M0062075 |
DEEHEKJG_00012 |
10476 |
51 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
918C>T |
Asp306Asp |
M0062076 |
DEEHEKJG_00012 |
10617 |
47 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
777T>C |
Pro259Pro |
M0062077 |
DEEHEKJG_00012 |
10626 |
49 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
768A>G |
Val256Val |
M0062078 |
DEEHEKJG_00012 |
10754 |
43 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
640G>A |
Asp214Asn |
M0062079 |
DEEHEKJG_00012 |
10932 |
42 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
462C>T |
Asp154Asp |
M0062080 |
DEEHEKJG_00012 |
10961 |
38 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
433G>A |
Gly145Ser |
M0062081 |
DEEHEKJG_00012 |
10962 |
42 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
432A>G |
Leu144Leu |
M0062082 |
DEEHEKJG_00012 |
10983 |
38 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
411G>A |
Thr137Thr |
M0062083 |
DEEHEKJG_00012 |
11027 |
31 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
367T>G |
Phe123Val |
M0062084 |
DEEHEKJG_00012 |
11053 |
38 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
341A>C |
Asn114Thr |
M0062085 |
DEEHEKJG_00012 |
11096 |
36 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
298G>A |
Val100Ile |
M0062086 |
DEEHEKJG_00012 |
11100 |
40 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
294C>T |
Leu98Leu |
M0062087 |
DEEHEKJG_00012 |
11121 |
40 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
273C>G |
Pro91Pro |
M0062088 |
DEEHEKJG_00012 |
11139 |
37 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
255G>A |
Ala85Ala |
M0062089 |
DEEHEKJG_00012 |
11348 |
32 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
46C>T |
Leu16Leu |
M0062090 |
DEEHEKJG_00012 |
11361 |
23 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
33C>A |
Gly11Gly |
M0062091 |
DEEHEKJG_00011 |
11398 |
32 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1315C>T |
None |
M0062092 |
DEEHEKJG_00013 |
11462 |
126 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
255A>G |
Val85Val |
M0062093 |
DEEHEKJG_00013 |
11465 |
33 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
252G>T |
Ala84Ala |
M0062094 |
DEEHEKJG_00013 |
11467 |
24 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
250G>A |
Ala84Thr |
M0062095 |
DEEHEKJG_00013 |
11509 |
126 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
208A>G |
Ile70Val |
M0062096 |
DEEHEKJG_00013 |
11633 |
121 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
84T>C |
Ile28Ile |
M0062097 |
DEEHEKJG_00013 |
11640 |
31 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
77A>G |
Lys26Arg |
M0062098 |
DEEHEKJG_00013 |
11642 |
31 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
75C>T |
Val25Val |
M0062099 |
DEEHEKJG_00013 |
11678 |
124 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
39C>A |
Ser13Ser |
M0062100 |
DEEHEKJG_00013 |
11712 |
124 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
5A>C |
Glu2Ala |
M0062101 |
DEEHEKJG_00014 |
11735 |
122 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
355A>G |
Arg119Gly |
M0062102 |
DEEHEKJG_00014 |
11759 |
123 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
331A>C |
Met111Leu |
M0062103 |
DEEHEKJG_00014 |
11760 |
123 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
330G>A |
Ala110Ala |
M0062104 |
DEEHEKJG_00014 |
11858 |
120 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
232A>G |
Ile78Val |
M0062105 |
DEEHEKJG_00024 |
21630 |
153 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
249C>T |
Arg83Arg |
M0062106 |
DEEHEKJG_00024 |
21676 |
139 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
203T>C |
Val68Ala |
M0062107 |
DEEHEKJG_00024 |
21708 |
153 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
171C>T |
Pro57Pro |
M0062108 |
DEEHEKJG_00025 |
21930 |
109 |
Skin |
0.09 |
protein_coding |
start_lost |
HIGH |
1A>G |
Met1? |
M0062109 |
DEEHEKJG_00025 |
21978 |
132 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
49G>A |
Gly17Arg |
M0062110 |
DEEHEKJG_00025 |
22040 |
109 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Val37Val |
M0062111 |
DEEHEKJG_00025 |
22055 |
129 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
126G>C |
Pro42Pro |
M0062112 |
DEEHEKJG_00025 |
22180 |
162 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
251G>A |
Arg84His |
M0062113 |
DEEHEKJG_00025 |
22181 |
114 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
252C>G |
Arg84Arg |
M0062114 |
DEEHEKJG_00025 |
22218 |
132 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
289G>A |
Ala97Thr |
M0062115 |
DEEHEKJG_00025 |
22287 |
185 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
358T>C |
Cys120Arg |
M0062116 |
DEEHEKJG_00025 |
22302 |
167 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
373C>T |
Leu125Leu |
M0062117 |
DEEHEKJG_00025 |
22316 |
138 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
387G>A |
Ala129Ala |
M0062118 |
DEEHEKJG_00026 |
22596 |
137 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
87G>A |
Gln29Gln |
M0062119 |
DEEHEKJG_00026 |
22602 |
172 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
93A>C |
Thr31Thr |
M0062120 |
DEEHEKJG_00026 |
22677 |
165 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
168C>A |
Ser56Ser |
M0062121 |
DEEHEKJG_00026 |
22839 |
102 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
330A>C |
Thr110Thr |
M0062122 |
DEEHEKJG_00026 |
22849 |
168 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
340C>A |
Gln114Lys |
M0062123 |
DEEHEKJG_00026 |
22853 |
168 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
344A>C |
Glu115Ala |
M0062124 |
DEEHEKJG_00026 |
22854 |
168 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
345A>G |
Glu115Glu |
M0062125 |
DEEHEKJG_00021 |
23184 |
340 |
Skin |
0.29 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3912G>C |
None |
M0062126 |
DEEHEKJG_00021 |
23326 |
18 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4054A>C |
None |
M0062127 |
DEEHEKJG_00027 |
24039 |
234 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
618T>C |
Ala206Ala |
M0062128 |
DEEHEKJG_00028 |
24124 |
402 |
Skin |
0.34 |
protein_coding |
missense_variant |
MODERATE |
65A>T |
Gln22Leu |
M0062129 |
DEEHEKJG_00028 |
24178 |
436 |
Skin |
0.37 |
protein_coding |
missense_variant |
MODERATE |
119A>G |
Glu40Gly |
M0062130 |
DEEHEKJG_00028 |
24760 |
15 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
701G>A |
Arg234His |
M0062131 |
DEEHEKJG_00029 |
25069 |
399 |
Skin |
0.34 |
protein_coding |
missense_variant |
MODERATE |
195C>G |
Phe65Leu |
M0062132 |
DEEHEKJG_00029 |
25492 |
184 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
618T>C |
Pro206Pro |
M0062133 |
DEEHEKJG_00029 |
25760 |
369 |
Skin |
0.31 |
protein_coding |
missense_variant |
MODERATE |
886T>C |
Trp296Arg |
M0062134 |
DEEHEKJG_00030 |
27072 |
200 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
729C>T |
Tyr243Tyr |
M0062135 |
DEEHEKJG_00030 |
27081 |
200 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
738C>G |
Pro246Pro |
M0062136 |
DEEHEKJG_00030 |
27090 |
308 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
747T>C |
Thr249Thr |
M0062137 |
DEEHEKJG_00030 |
27141 |
206 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
798C>T |
Gly266Gly |
M0062138 |
DEEHEKJG_00030 |
27150 |
206 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
807T>C |
Ala269Ala |
M0062139 |
DEEHEKJG_00030 |
27166 |
204 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
823A>G |
Lys275Glu |
M0062140 |
DEEHEKJG_00030 |
27168 |
205 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
825A>G |
Lys275Lys |
M0062141 |
DEEHEKJG_00031 |
27257 |
242 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
40G>T |
Ala14Ser |
M0062142 |
DEEHEKJG_00031 |
27337 |
327 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
120G>A |
Gly40Gly |
M0062143 |
DEEHEKJG_00031 |
27372 |
217 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
155G>A |
Gly52Asp |
M0062144 |
DEEHEKJG_00031 |
27375 |
217 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
158C>T |
Pro53Leu |
M0062145 |
DEEHEKJG_00031 |
27378 |
217 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
161T>C |
Val54Ala |
M0062146 |
DEEHEKJG_00031 |
27395 |
217 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
178T>C |
Leu60Leu |
M0062147 |
DEEHEKJG_00031 |
27437 |
214 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
220A>G |
Met74Val |
M0062148 |
DEEHEKJG_00031 |
27439 |
136 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
222G>A |
Met74Ile |
M0062149 |
DEEHEKJG_00031 |
27463 |
212 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
246C>T |
Thr82Thr |
M0062150 |
DEEHEKJG_00031 |
27472 |
135 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
255G>A |
Leu85Leu |
M0062151 |
DEEHEKJG_00031 |
27484 |
213 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
267T>C |
Thr89Thr |
M0062152 |
DEEHEKJG_00031 |
27864 |
354 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
647A>G |
Glu216Gly |
M0062153 |
DEEHEKJG_00031 |
27925 |
354 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
708T>C |
Asp236Asp |
M0062154 |
DEEHEKJG_00032 |
28234 |
410 |
Skin |
0.35 |
protein_coding |
missense_variant |
MODERATE |
118C>G |
Arg40Gly |
M0062155 |
DEEHEKJG_00032 |
28599 |
159 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
483T>C |
Ala161Ala |
M0062156 |
DEEHEKJG_00032 |
28755 |
156 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
639T>G |
Ala213Ala |
M0062157 |
DEEHEKJG_00033 |
29019 |
437 |
Skin |
0.37 |
protein_coding |
missense_variant |
MODERATE |
244C>T |
Pro82Ser |
M0062158 |
DEEHEKJG_00034 |
30848 |
311 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1567A>G |
Ile523Val |
M0062159 |
DEEHEKJG_00034 |
31357 |
424 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
2076A>G |
Leu692Leu |
M0062160 |
DEEHEKJG_00035 |
32226 |
206 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1209G>A |
Pro403Pro |
M0062161 |
DEEHEKJG_00036 |
35000 |
72 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1179C>T |
His393His |
M0062162 |
DEEHEKJG_00036 |
35164 |
69 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1343A>G |
Glu448Gly |
M0062163 |
DEEHEKJG_00035 |
35553 |
96 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2119T>C |
None |
M0062164 |
DEEHEKJG_00037 |
35837 |
90 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
219T>C |
Leu73Leu |
M0062165 |
DEEHEKJG_00038 |
36302 |
169 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
258A>G |
Ala86Ala |
M0062166 |
DEEHEKJG_00043 |
42143 |
116 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
111T>C |
Ile37Ile |
M0062167 |
DEEHEKJG_00045 |
43350 |
142 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
862T>G |
Cys288Gly |
M0062168 |
DEEHEKJG_00045 |
43946 |
48 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
266A>C |
Asn89Thr |
M0062169 |
DEEHEKJG_00045 |
43951 |
125 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
261A>G |
Leu87Leu |
M0062170 |
DEEHEKJG_00046 |
44268 |
176 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1264A>G |
Thr422Ala |
M0062171 |
DEEHEKJG_00046 |
44484 |
147 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1048G>C |
Ala350Pro |
M0062172 |
DEEHEKJG_00046 |
44574 |
126 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
958T>C |
Ser320Pro |
M0062173 |
DEEHEKJG_00041 |
45612 |
85 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4672A>G |
None |
M0062174 |
DEEHEKJG_00041 |
45794 |
149 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4854C>T |
None |
M0062175 |
DEEHEKJG_00047 |
46575 |
189 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
698A>G |
Glu233Gly |
M0062176 |
DEEHEKJG_00048 |
47495 |
130 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
863G>A |
Arg288Gln |
M0062177 |
DEEHEKJG_00049 |
48571 |
58 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
558A>G |
Lys186Lys |
M0062178 |
DEEHEKJG_00049 |
48903 |
156 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
890C>T |
Ala297Val |
M0062179 |
DEEHEKJG_00049 |
49195 |
56 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1182T>C |
Pro394Pro |
M0062180 |
DEEHEKJG_00049 |
49303 |
53 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1290G>C |
Gly430Gly |
M0062181 |
DEEHEKJG_00049 |
49409 |
52 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1396A>G |
Arg466Gly |
M0062182 |
DEEHEKJG_00049 |
49665 |
51 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1652T>C |
Val551Ala |
M0062183 |
DEEHEKJG_00049 |
49789 |
52 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1776T>C |
Pro592Pro |
M0062184 |
DEEHEKJG_00049 |
49968 |
39 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1955T>C |
Val652Ala |
M0062185 |
DEEHEKJG_00049 |
50341 |
38 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2328C>T |
Arg776Arg |
M0062186 |
DEEHEKJG_00049 |
50349 |
51 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2336A>G |
Asp779Gly |
M0062187 |
DEEHEKJG_00049 |
50514 |
53 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2501G>A |
Gly834Glu |
M0062188 |
DEEHEKJG_00049 |
50670 |
35 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2657C>T |
Thr886Ile |
M0062189 |
DEEHEKJG_00049 |
50756 |
148 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
2743G>C |
Val915Leu |
M0062190 |
DEEHEKJG_00050 |
51194 |
34 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
56A>G |
Glu19Gly |
M0062191 |
DEEHEKJG_00050 |
51339 |
33 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
201G>A |
Lys67Lys |
M0062192 |
DEEHEKJG_00050 |
51585 |
54 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
447T>C |
Ala149Ala |
M0062193 |
DEEHEKJG_00050 |
51600 |
36 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
462C>T |
Phe154Phe |
M0062194 |
DEEHEKJG_00050 |
51663 |
101 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
525A>G |
Gln175Gln |
M0062195 |
DEEHEKJG_00050 |
51873 |
50 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
735T>C |
Leu245Leu |
M0062196 |
DEEHEKJG_00032 |
28514 |
128 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
398C>T |
Thr133Ile |
M0062197 |
DEEHEKJG_00028 |
24370 |
122 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
311C>T |
Ser104Phe |
M0062198 |
DEEHEKJG_00029 |
26101 |
82 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1227C>T |
Ala409Ala |
M0062199 |
DEEHEKJG_00029 |
26173 |
170 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1299T>C |
Gly433Gly |
M0062200 |
DEEHEKJG_00029 |
26186 |
170 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1312T>C |
Tyr438His |
M0062201 |
DEEHEKJG_00029 |
26198 |
171 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1324G>A |
Val442Ile |
M0062202 |
DEEHEKJG_00029 |
26230 |
180 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1356A>G |
Gly452Gly |
M0062203 |
DEEHEKJG_00029 |
26272 |
179 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1398C>T |
Thr466Thr |
M0062204 |
DEEHEKJG_00029 |
26287 |
179 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1413T>C |
Phe471Phe |
M0062205 |
DEEHEKJG_00029 |
26297 |
179 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1423T>C |
Ser475Pro |
M0062206 |
DEEHEKJG_00029 |
26308 |
121 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1434C>T |
Val478Val |
M0062207 |
DEEHEKJG_00029 |
26322 |
180 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1448G>A |
Arg483His |
M0062208 |
DEEHEKJG_00030 |
26400 |
103 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
57G>A |
Val19Val |
M0062209 |
DEEHEKJG_00030 |
26574 |
251 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
231T>C |
Val77Val |
M0062210 |
DEEHEKJG_00030 |
26575 |
251 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
232G>T |
Val78Leu |
M0062211 |
DEEHEKJG_00030 |
26577 |
251 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
234G>A |
Val78Val |
M0062212 |
DEEHEKJG_00030 |
26628 |
321 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Asp95Asp |
M0062213 |
DEEHEKJG_00030 |
26631 |
340 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
288G>A |
Pro96Pro |
M0062214 |
DEEHEKJG_00030 |
26922 |
79 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
579C>G |
Thr193Thr |
M0062215 |
DEEHEKJG_00030 |
27021 |
195 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
678C>T |
Ser226Ser |
M0062216 |
DEEHEKJG_00031 |
27548 |
105 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
331G>A |
Ala111Thr |
M0062217 |
DEEHEKJG_00035 |
33504 |
64 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-70G>A |
None |
M0062218 |
DEEHEKJG_00036 |
33845 |
57 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
24C>T |
Ala8Ala |
M0062219 |
DEEHEKJG_00038 |
36387 |
48 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
173G>A |
Arg58His |
M0062220 |
DEEHEKJG_00039 |
37183 |
54 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
67C>A |
Arg23Ser |
M0062221 |
DEEHEKJG_00039 |
37187 |
54 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
63C>A |
His21Gln |
M0062222 |
DEEHEKJG_00040 |
39815 |
35 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
104T>C |
Met35Thr |
M0062223 |
DEEHEKJG_00041 |
40853 |
143 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
88T>C |
Ser30Pro |
M0062224 |
DEEHEKJG_00043 |
42086 |
48 |
Skin |
0.04 |
protein_coding |
stop_gained |
HIGH |
168G>A |
Trp56* |
M0062225 |
DEEHEKJG_00030 |
26614 |
72 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
271G>A |
Ala91Thr |
M0062226 |
DEEHEKJG_00030 |
26623 |
64 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
280G>A |
Ala94Thr |
M0062227 |
DEEHEKJG_00030 |
26720 |
16 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
377A>G |
Asp126Gly |
M0062228 |
DEEHEKJG_00030 |
27057 |
74 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
714T>C |
Ile238Ile |
M0062229 |
DEEHEKJG_00030 |
27151 |
68 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
808C>T |
Leu270Leu |
M0062230 |
DEEHEKJG_00030 |
27204 |
68 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
861A>G |
Ala287Ala |
M0062231 |
DEEHEKJG_00031 |
27287 |
81 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
70G>A |
Val24Ile |
M0062232 |
DEEHEKJG_00031 |
27301 |
73 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
84C>T |
Arg28Arg |
M0062233 |
DEEHEKJG_00031 |
27347 |
72 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
130T>C |
Tyr44His |
M0062234 |
DEEHEKJG_00031 |
27358 |
72 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
141G>A |
Gln47Gln |
M0062235 |
DEEHEKJG_00031 |
27427 |
68 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
210C>T |
Arg70Arg |
M0062236 |
DEEHEKJG_00031 |
27549 |
66 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
332C>T |
Ala111Val |
M0062237 |
DEEHEKJG_00031 |
27580 |
184 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
363T>C |
Thr121Thr |
M0062238 |
DEEHEKJG_00031 |
27628 |
184 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
411G>A |
Gly137Gly |
M0062239 |
DEEHEKJG_00031 |
27808 |
183 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
591T>C |
Arg197Arg |
M0062240 |
DEEHEKJG_00032 |
28150 |
200 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
34T>C |
Cys12Arg |
M0062241 |
DEEHEKJG_00033 |
28780 |
60 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
5T>A |
Ile2Asn |
M0062242 |
DEEHEKJG_00034 |
29327 |
173 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
46A>G |
Met16Val |
M0062243 |
DEEHEKJG_00034 |
29332 |
109 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
51T>C |
Val17Val |
M0062244 |
DEEHEKJG_00034 |
29374 |
174 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
93G>A |
Val31Val |
M0062245 |
DEEHEKJG_00034 |
29392 |
107 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Asp37Asp |
M0062246 |
DEEHEKJG_00034 |
29408 |
173 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
127A>C |
Ser43Arg |
M0062247 |
DEEHEKJG_00025 |
22229 |
93 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
300C>T |
Gly100Gly |
M0062248 |
DEEHEKJG_00014 |
11970 |
104 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
120A>G |
Leu40Leu |
M0062249 |
DEEHEKJG_00014 |
12029 |
23 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
61A>G |
Met21Val |
M0062250 |
DEEHEKJG_00014 |
12048 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
42C>T |
Gly14Gly |
M0062251 |
DEEHEKJG_00011 |
12110 |
106 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2027A>G |
None |
M0062252 |
DEEHEKJG_00011 |
12141 |
22 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2058G>A |
None |
M0062253 |
DEEHEKJG_00011 |
12173 |
22 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2090C>T |
None |
M0062254 |
DEEHEKJG_00011 |
12339 |
22 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2256C>T |
None |
M0062255 |
DEEHEKJG_00015 |
12483 |
20 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
124A>G |
Ile42Val |
M0062256 |
DEEHEKJG_00015 |
12599 |
117 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Thr80Thr |
M0062257 |
DEEHEKJG_00015 |
12626 |
23 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
267T>C |
Leu89Leu |
M0062258 |
DEEHEKJG_00015 |
12639 |
21 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
280G>A |
Asp94Asn |
M0062259 |
DEEHEKJG_00015 |
12723 |
24 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
364A>G |
Lys122Glu |
M0062260 |
DEEHEKJG_00015 |
12731 |
82 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
372A>G |
Gln124Gln |
M0062261 |
DEEHEKJG_00015 |
12740 |
24 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
381C>G |
Asp127Glu |
M0062262 |
DEEHEKJG_00015 |
12746 |
82 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
387A>G |
Ser129Ser |
M0062263 |
DEEHEKJG_00015 |
12854 |
24 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
495C>T |
Gly165Gly |
M0062264 |
DEEHEKJG_00015 |
12881 |
93 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
522A>G |
Leu174Leu |
M0062265 |
DEEHEKJG_00015 |
12912 |
24 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
553T>G |
Leu185Val |
M0062266 |
DEEHEKJG_00015 |
12942 |
92 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
583T>C |
Leu195Leu |
M0062267 |
DEEHEKJG_00015 |
12977 |
92 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
618T>C |
Val206Val |
M0062268 |
DEEHEKJG_00015 |
13010 |
22 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
651C>A |
Ser217Arg |
M0062269 |
DEEHEKJG_00015 |
13021 |
90 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
662G>A |
Gly221Glu |
M0062270 |
DEEHEKJG_00015 |
13022 |
22 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
663G>A |
Gly221Gly |
M0062271 |
DEEHEKJG_00015 |
13025 |
22 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
666C>T |
Asp222Asp |
M0062272 |
DEEHEKJG_00015 |
13036 |
24 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
677C>T |
Thr226Ile |
M0062273 |
DEEHEKJG_00015 |
13136 |
22 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
777C>T |
Asp259Asp |
M0062274 |
DEEHEKJG_00015 |
13184 |
22 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
825C>T |
Gly275Gly |
M0062275 |
DEEHEKJG_00015 |
13223 |
22 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
864G>A |
Ser288Ser |
M0062276 |
DEEHEKJG_00015 |
13232 |
22 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
873C>T |
Ser291Ser |
M0062277 |
DEEHEKJG_00015 |
13299 |
22 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
940G>A |
Val314Ile |
M0062278 |
DEEHEKJG_00015 |
13419 |
80 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1060A>G |
Thr354Ala |
M0062279 |
DEEHEKJG_00015 |
13457 |
142 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1098A>G |
Thr366Thr |
M0062280 |
DEEHEKJG_00015 |
13458 |
142 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1099A>G |
Asn367Asp |
M0062281 |
DEEHEKJG_00015 |
13473 |
85 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1114T>C |
Leu372Leu |
M0062282 |
DEEHEKJG_00015 |
13476 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1117T>C |
Leu373Leu |
M0062283 |
DEEHEKJG_00015 |
13482 |
88 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1123G>A |
Val375Ile |
M0062284 |
DEEHEKJG_00015 |
13493 |
88 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1134G>A |
Gly378Gly |
M0062285 |
DEEHEKJG_00015 |
13494 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1135C>T |
Leu379Leu |
M0062286 |
DEEHEKJG_00015 |
13514 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1155G>A |
Pro385Pro |
M0062287 |
DEEHEKJG_00015 |
13550 |
79 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1191G>T |
Pro397Pro |
M0062288 |
DEEHEKJG_00015 |
13592 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1233C>T |
Val411Val |
M0062289 |
DEEHEKJG_00015 |
13605 |
86 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1246A>G |
Asn416Asp |
M0062290 |
DEEHEKJG_00015 |
13617 |
20 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1258A>G |
Ile420Val |
M0062291 |
DEEHEKJG_00015 |
13648 |
89 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1289T>C |
Val430Ala |
M0062292 |
DEEHEKJG_00015 |
13697 |
22 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1338G>A |
Ser446Ser |
M0062293 |
DEEHEKJG_00015 |
13702 |
81 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1343A>G |
His448Arg |
M0062294 |
DEEHEKJG_00015 |
13703 |
78 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1344C>T |
His448His |
M0062295 |
DEEHEKJG_00015 |
13765 |
22 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1406C>T |
Ala469Val |
M0062296 |
DEEHEKJG_00015 |
13850 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1491C>T |
Thr497Thr |
M0062297 |
DEEHEKJG_00015 |
13871 |
78 |
Skin |
0.07 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
1512A>G |
Ter504Trpext*? |
M0062298 |
DEEHEKJG_00016 |
13937 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
48A>G |
Arg16Arg |
M0062299 |
DEEHEKJG_00016 |
13944 |
74 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
55A>G |
Ile19Val |
M0062300 |
DEEHEKJG_00016 |
13960 |
21 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
71G>A |
Gly24Glu |
M0062301 |
DEEHEKJG_00016 |
13965 |
21 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
76T>C |
Ser26Pro |
M0062302 |
DEEHEKJG_00016 |
14039 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
150G>A |
Ala50Ala |
M0062303 |
DEEHEKJG_00016 |
14141 |
78 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
252T>C |
Phe84Phe |
M0062304 |
DEEHEKJG_00016 |
14174 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
285G>A |
Arg95Arg |
M0062305 |
DEEHEKJG_00011 |
14302 |
14 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4219G>A |
None |
M0062306 |
DEEHEKJG_00011 |
14316 |
67 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4233T>G |
None |
M0062307 |
DEEHEKJG_00011 |
14323 |
14 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4240C>T |
None |
M0062308 |
DEEHEKJG_00011 |
14355 |
67 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4272C>T |
None |
M0062309 |
DEEHEKJG_00011 |
14372 |
125 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4289C>A |
None |
M0062310 |
DEEHEKJG_00011 |
14385 |
14 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4302A>G |
None |
M0062311 |
DEEHEKJG_00011 |
14425 |
77 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4342A>G |
None |
M0062312 |
DEEHEKJG_00011 |
14453 |
14 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4370G>T |
None |
M0062313 |
DEEHEKJG_00011 |
14455 |
69 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4372G>A |
None |
M0062314 |
DEEHEKJG_00011 |
14488 |
67 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4405A>G |
None |
M0062315 |
DEEHEKJG_00011 |
14502 |
16 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4419G>A |
None |
M0062316 |
DEEHEKJG_00011 |
14511 |
61 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4428G>A |
None |
M0062317 |
DEEHEKJG_00011 |
14521 |
61 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4438G>C |
None |
M0062318 |
DEEHEKJG_00011 |
14522 |
61 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4439T>A |
None |
M0062319 |
DEEHEKJG_00011 |
14525 |
61 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4442T>C |
None |
M0062320 |
DEEHEKJG_00011 |
14531 |
61 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4448G>C |
None |
M0062321 |
DEEHEKJG_00011 |
14539 |
63 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4456A>G |
None |
M0062322 |
DEEHEKJG_00011 |
14557 |
61 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4474C>T |
None |
M0062323 |
DEEHEKJG_00011 |
14569 |
61 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4486T>C |
None |
M0062324 |
DEEHEKJG_00011 |
14592 |
66 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4509G>A |
None |
M0062325 |
DEEHEKJG_00011 |
14596 |
14 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4513A>G |
None |
M0062326 |
DEEHEKJG_00011 |
14646 |
16 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4563G>A |
None |
M0062327 |
DEEHEKJG_00011 |
14667 |
61 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4584T>G |
None |
M0062328 |
DEEHEKJG_00011 |
14671 |
62 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4588G>A |
None |
M0062329 |
DEEHEKJG_00011 |
14706 |
68 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4623A>G |
None |
M0062330 |
DEEHEKJG_00011 |
14733 |
68 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4650C>A |
None |
M0062331 |
DEEHEKJG_00011 |
14739 |
70 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4656A>C |
None |
M0062332 |
DEEHEKJG_00011 |
14789 |
65 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4706T>C |
None |
M0062333 |
DEEHEKJG_00011 |
14822 |
69 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4739A>G |
None |
M0062334 |
DEEHEKJG_00011 |
14853 |
20 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4770A>C |
None |
M0062335 |
DEEHEKJG_00011 |
14920 |
66 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4837G>A |
None |
M0062336 |
DEEHEKJG_00011 |
14969 |
48 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4886T>C |
None |
M0062337 |
DEEHEKJG_00011 |
15060 |
142 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4977C>T |
None |
M0062338 |
DEEHEKJG_00012 |
15091 |
45 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3698A>G |
None |
M0062339 |
DEEHEKJG_00012 |
15126 |
37 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3733T>C |
None |
M0062340 |
DEEHEKJG_00012 |
15129 |
17 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3736G>C |
None |
M0062341 |
DEEHEKJG_00012 |
15137 |
17 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3744T>C |
None |
M0062342 |
DEEHEKJG_00012 |
15162 |
45 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3769A>G |
None |
M0062343 |
DEEHEKJG_00017 |
15210 |
38 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
32C>T |
Pro11Leu |
M0062344 |
DEEHEKJG_00017 |
15260 |
43 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
82G>A |
Ala28Thr |
M0062345 |
DEEHEKJG_00018 |
15762 |
45 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
124G>A |
Gly42Ser |
M0062346 |
DEEHEKJG_00018 |
15763 |
45 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
125G>A |
Gly42Asp |
M0062347 |
DEEHEKJG_00018 |
15783 |
45 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
145T>C |
Cys49Arg |
M0062348 |
DEEHEKJG_00018 |
15797 |
45 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
159T>C |
Gly53Gly |
M0062349 |
DEEHEKJG_00018 |
15805 |
45 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
167G>A |
Gly56Asp |
M0062350 |
DEEHEKJG_00018 |
15807 |
45 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
169C>T |
Arg57Trp |
M0062351 |
DEEHEKJG_00018 |
15830 |
101 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
192G>A |
Pro64Pro |
M0062352 |
DEEHEKJG_00018 |
15833 |
39 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
195C>T |
Gly65Gly |
M0062353 |
DEEHEKJG_00012 |
16171 |
12 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4778C>G |
None |
M0062354 |
DEEHEKJG_00012 |
16274 |
13 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4881G>A |
None |
M0062355 |
DEEHEKJG_00012 |
16329 |
12 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4936C>A |
None |
M0062356 |
DEEHEKJG_00019 |
16600 |
47 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
441A>G |
Ala147Ala |
M0062357 |
DEEHEKJG_00019 |
16752 |
40 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
289T>C |
Trp97Arg |
M0062358 |
DEEHEKJG_00019 |
16839 |
15 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
202A>G |
Thr68Ala |
M0062359 |
DEEHEKJG_00019 |
16974 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
67G>C |
Val23Leu |
M0062360 |
DEEHEKJG_00019 |
17002 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
39G>A |
Ala13Ala |
M0062361 |
DEEHEKJG_00020 |
17324 |
100 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
167C>T |
Ala56Val |
M0062362 |
DEEHEKJG_00031 |
27797 |
104 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
580G>A |
Ala194Thr |
M0062363 |
DEEHEKJG_00031 |
27799 |
112 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
582G>A |
Ala194Ala |
M0062364 |
DEEHEKJG_00031 |
27961 |
119 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
744T>C |
Ala248Ala |
M0062365 |
DEEHEKJG_00031 |
28003 |
110 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
786G>A |
Lys262Lys |
M0062366 |
DEEHEKJG_00031 |
28005 |
118 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
788T>C |
Val263Ala |
M0062367 |
DEEHEKJG_00031 |
28021 |
186 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
804T>C |
Ala268Ala |
M0062368 |
DEEHEKJG_00031 |
28031 |
110 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
814C>T |
Leu272Leu |
M0062369 |
DEEHEKJG_00031 |
28039 |
186 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
822T>A |
Ile274Ile |
M0062370 |
DEEHEKJG_00032 |
28427 |
105 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
311A>G |
Gln104Arg |
M0062371 |
DEEHEKJG_00033 |
29149 |
194 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
374T>C |
Phe125Ser |
M0062372 |
DEEHEKJG_00033 |
29160 |
194 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
385G>A |
Ala129Thr |
M0062373 |
DEEHEKJG_00034 |
29566 |
171 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
285A>G |
Leu95Leu |
M0062374 |
DEEHEKJG_00034 |
29580 |
102 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
299G>A |
Gly100Glu |
M0062375 |
DEEHEKJG_00034 |
29659 |
180 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
378A>G |
Val126Val |
M0062376 |
DEEHEKJG_00034 |
29711 |
111 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
430G>A |
Val144Met |
M0062377 |
DEEHEKJG_00034 |
29725 |
112 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
444T>C |
Ser148Ser |
M0062378 |
DEEHEKJG_00034 |
29726 |
170 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
445A>G |
Arg149Gly |
M0062379 |
DEEHEKJG_00034 |
29815 |
178 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
534A>G |
Ser178Ser |
M0062380 |
DEEHEKJG_00034 |
29830 |
178 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
549T>C |
Val183Val |
M0062381 |
DEEHEKJG_00034 |
29914 |
107 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
633C>T |
Ala211Ala |
M0062382 |
DEEHEKJG_00034 |
29956 |
170 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
675T>C |
Leu225Leu |
M0062383 |
DEEHEKJG_00034 |
29990 |
165 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
709A>G |
Ile237Val |
M0062384 |
DEEHEKJG_00034 |
30457 |
142 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1176G>A |
Arg392Arg |
M0062385 |
DEEHEKJG_00034 |
31528 |
114 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
2247C>T |
Asp749Asp |
M0062386 |
DEEHEKJG_00034 |
31708 |
108 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2427A>T |
Ala809Ala |
M0062387 |
DEEHEKJG_00034 |
31840 |
63 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2559G>A |
Arg853Arg |
M0062388 |
DEEHEKJG_00034 |
31912 |
90 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2631T>C |
Asp877Asp |
M0062389 |
DEEHEKJG_00034 |
31918 |
89 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2637T>C |
Gly879Gly |
M0062390 |
DEEHEKJG_00034 |
31975 |
67 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2694C>T |
Asp898Asp |
M0062391 |
DEEHEKJG_00034 |
32002 |
91 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2721A>G |
Leu907Leu |
M0062392 |
DEEHEKJG_00034 |
32026 |
66 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2745C>T |
Ala915Ala |
M0062393 |
DEEHEKJG_00036 |
32059 |
88 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1763T>C |
None |
M0062394 |
DEEHEKJG_00036 |
32061 |
88 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1761T>C |
None |
M0062395 |
DEEHEKJG_00036 |
32083 |
66 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1739G>A |
None |
M0062396 |
DEEHEKJG_00030 |
26613 |
136 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
270T>C |
Pro90Pro |
M0062397 |
DEEHEKJG_00030 |
26616 |
136 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
273C>T |
Ala91Ala |
M0062398 |
DEEHEKJG_00030 |
26620 |
136 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
277T>C |
Leu93Leu |
M0062399 |
DEEHEKJG_00030 |
26622 |
136 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
279G>A |
Leu93Leu |
M0062400 |
DEEHEKJG_00016 |
14168 |
19 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
279C>T |
Tyr93Tyr |
M0062401 |
DEEHEKJG_00012 |
15470 |
20 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4077G>A |
None |
M0062402 |
DEEHEKJG_00020 |
17814 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
657C>T |
Gly219Gly |
M0062403 |
DEEHEKJG_00024 |
21333 |
35 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
546C>T |
Ala182Ala |
M0062404 |
DEEHEKJG_00024 |
21357 |
29 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
522G>A |
Ser174Ser |
M0062405 |
DEEHEKJG_00024 |
21359 |
29 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
520T>A |
Ser174Thr |
M0062406 |
DEEHEKJG_00024 |
21360 |
27 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
519C>T |
Asp173Asp |
M0062407 |
DEEHEKJG_00024 |
21363 |
28 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
516C>A |
Gly172Gly |
M0062408 |
DEEHEKJG_00024 |
21390 |
29 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
489T>C |
Gly163Gly |
M0062409 |
DEEHEKJG_00024 |
21399 |
29 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
480G>C |
Thr160Thr |
M0062410 |
DEEHEKJG_00024 |
21402 |
27 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
477A>G |
Val159Val |
M0062411 |
DEEHEKJG_00024 |
21408 |
38 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
471A>G |
Pro157Pro |
M0062412 |
DEEHEKJG_00024 |
21420 |
28 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
459G>C |
Pro153Pro |
M0062413 |
DEEHEKJG_00024 |
21426 |
28 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
453T>C |
Thr151Thr |
M0062414 |
DEEHEKJG_00024 |
21432 |
28 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
447A>C |
Ser149Ser |
M0062415 |
DEEHEKJG_00024 |
21443 |
28 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
436G>A |
Val146Ile |
M0062416 |
DEEHEKJG_00024 |
21459 |
36 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
420T>C |
Asn140Asn |
M0062417 |
DEEHEKJG_00024 |
21461 |
36 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
418A>G |
Asn140Asp |
M0062418 |
DEEHEKJG_00024 |
21474 |
36 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
405C>T |
Asp135Asp |
M0062419 |
DEEHEKJG_00024 |
21492 |
30 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
387G>A |
Glu129Glu |
M0062420 |
DEEHEKJG_00024 |
21516 |
27 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
363C>T |
Thr121Thr |
M0062421 |
DEEHEKJG_00024 |
21624 |
30 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
255T>C |
Tyr85Tyr |
M0062422 |
DEEHEKJG_00024 |
21702 |
31 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
177T>C |
Arg59Arg |
M0062423 |
DEEHEKJG_00024 |
21780 |
40 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
99C>T |
Gly33Gly |
M0062424 |
DEEHEKJG_00024 |
21843 |
33 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
36C>T |
Leu12Leu |
M0062425 |
DEEHEKJG_00019 |
21884 |
35 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4844G>A |
None |
M0062426 |
DEEHEKJG_00025 |
21944 |
38 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
15C>T |
Arg5Arg |
M0062427 |
DEEHEKJG_00025 |
21950 |
37 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
21T>C |
Val7Val |
M0062428 |
DEEHEKJG_00025 |
22260 |
40 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
331C>T |
Pro111Ser |
M0062429 |
DEEHEKJG_00025 |
22313 |
41 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
384A>G |
Glu128Glu |
M0062430 |
DEEHEKJG_00025 |
22475 |
51 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
546T>C |
Ala182Ala |
M0062431 |
DEEHEKJG_00026 |
22522 |
51 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
13G>C |
Val5Leu |
M0062432 |
DEEHEKJG_00026 |
22525 |
51 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
16G>A |
Val6Ile |
M0062433 |
DEEHEKJG_00026 |
22545 |
51 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
36C>G |
Ala12Ala |
M0062434 |
DEEHEKJG_00026 |
22548 |
51 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
39C>T |
Cys13Cys |
M0062435 |
DEEHEKJG_00026 |
22566 |
51 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
57C>T |
Cys19Cys |
M0062436 |
DEEHEKJG_00026 |
22570 |
51 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
61A>G |
Thr21Ala |
M0062437 |
DEEHEKJG_00026 |
22571 |
51 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
62C>T |
Thr21Ile |
M0062438 |
DEEHEKJG_00026 |
22589 |
51 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
80A>G |
Glu27Gly |
M0062439 |
DEEHEKJG_00026 |
22624 |
52 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
115G>A |
Val39Ile |
M0062440 |
DEEHEKJG_00026 |
22643 |
52 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
134C>T |
Ala45Val |
M0062441 |
DEEHEKJG_00026 |
22680 |
53 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
171A>T |
Gly57Gly |
M0062442 |
DEEHEKJG_00026 |
22683 |
53 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
174G>A |
Lys58Lys |
M0062443 |
DEEHEKJG_00026 |
22695 |
59 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
His62His |
M0062444 |
DEEHEKJG_00026 |
22819 |
54 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
310T>C |
Leu104Leu |
M0062445 |
DEEHEKJG_00026 |
22935 |
48 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
426G>A |
Val142Val |
M0062446 |
DEEHEKJG_00026 |
22949 |
48 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
440C>A |
Ala147Asp |
M0062447 |
DEEHEKJG_00026 |
22959 |
55 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
450T>C |
Ala150Ala |
M0062448 |
DEEHEKJG_00026 |
23007 |
54 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
498G>A |
Pro166Pro |
M0062449 |
DEEHEKJG_00026 |
23021 |
54 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
512T>C |
Leu171Pro |
M0062450 |
DEEHEKJG_00026 |
23109 |
44 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
600T>C |
Thr200Thr |
M0062451 |
DEEHEKJG_00026 |
23115 |
38 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
606G>A |
Gly202Gly |
M0062452 |
DEEHEKJG_00026 |
23118 |
44 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
609G>A |
Ala203Ala |
M0062453 |
DEEHEKJG_00026 |
23136 |
44 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
627G>A |
Gly209Gly |
M0062454 |
DEEHEKJG_00026 |
23142 |
38 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
633G>T |
Thr211Thr |
M0062455 |
DEEHEKJG_00026 |
23157 |
38 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
648T>C |
Val216Val |
M0062456 |
DEEHEKJG_00021 |
23236 |
47 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3964G>C |
None |
M0062457 |
DEEHEKJG_00021 |
23257 |
41 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3985C>T |
None |
M0062458 |
DEEHEKJG_00021 |
23272 |
47 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4000C>A |
None |
M0062459 |
DEEHEKJG_00021 |
23275 |
41 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4003T>C |
None |
M0062460 |
DEEHEKJG_00021 |
23286 |
41 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4014G>C |
None |
M0062461 |
DEEHEKJG_00021 |
23287 |
41 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4015C>T |
None |
M0062462 |
DEEHEKJG_00021 |
23388 |
52 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4116G>A |
None |
M0062463 |
DEEHEKJG_00027 |
23434 |
45 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
13A>G |
Thr5Ala |
M0062464 |
DEEHEKJG_00027 |
23457 |
45 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
36A>G |
Ala12Ala |
M0062465 |
DEEHEKJG_00027 |
23487 |
44 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
66G>T |
Ser22Ser |
M0062466 |
DEEHEKJG_00027 |
23598 |
50 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
177T>A |
Ala59Ala |
M0062467 |
DEEHEKJG_00027 |
23604 |
50 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
183G>A |
Gly61Gly |
M0062468 |
DEEHEKJG_00027 |
23613 |
57 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
192T>C |
Asp64Asp |
M0062469 |
DEEHEKJG_00027 |
23706 |
48 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
285T>C |
Gly95Gly |
M0062470 |
DEEHEKJG_00027 |
23724 |
46 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
303C>T |
Asp101Asp |
M0062471 |
DEEHEKJG_00027 |
23820 |
50 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
399C>T |
Arg133Arg |
M0062472 |
DEEHEKJG_00027 |
23835 |
48 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
414C>T |
Ser138Ser |
M0062473 |
DEEHEKJG_00027 |
23838 |
48 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
417A>G |
Leu139Leu |
M0062474 |
DEEHEKJG_00027 |
23844 |
58 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
423T>C |
Ala141Ala |
M0062475 |
DEEHEKJG_00027 |
23852 |
58 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
431G>A |
Arg144His |
M0062476 |
DEEHEKJG_00027 |
23874 |
48 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
453C>T |
Ser151Ser |
M0062477 |
DEEHEKJG_00027 |
23916 |
48 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
495C>T |
Ala165Ala |
M0062478 |
DEEHEKJG_00027 |
23973 |
44 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
552C>T |
Val184Val |
M0062479 |
DEEHEKJG_00028 |
24147 |
63 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
88G>A |
Val30Ile |
M0062480 |
DEEHEKJG_00028 |
24176 |
71 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
117G>C |
Pro39Pro |
M0062481 |
DEEHEKJG_00028 |
24278 |
60 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
219G>A |
Gln73Gln |
M0062482 |
DEEHEKJG_00028 |
24296 |
60 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
Thr79Thr |
M0062483 |
DEEHEKJG_00028 |
24341 |
63 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
282C>T |
Leu94Leu |
M0062484 |
DEEHEKJG_00028 |
24359 |
63 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
300C>A |
Leu100Leu |
M0062485 |
DEEHEKJG_00028 |
24368 |
72 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
309C>T |
Ala103Ala |
M0062486 |
DEEHEKJG_00028 |
24400 |
71 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
341C>T |
Ala114Val |
M0062487 |
DEEHEKJG_00028 |
24404 |
63 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
345C>T |
Ser115Ser |
M0062488 |
DEEHEKJG_00028 |
24416 |
63 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
357T>A |
Asp119Glu |
M0062489 |
DEEHEKJG_00028 |
24471 |
69 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
412A>G |
Thr138Ala |
M0062490 |
DEEHEKJG_00028 |
24474 |
61 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
415C>T |
Leu139Leu |
M0062491 |
DEEHEKJG_00028 |
24480 |
65 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
421G>A |
Gly141Ser |
M0062492 |
DEEHEKJG_00028 |
24545 |
63 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
486C>T |
Ala162Ala |
M0062493 |
DEEHEKJG_00028 |
24572 |
59 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
513G>T |
Val171Val |
M0062494 |
DEEHEKJG_00028 |
24611 |
60 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
552C>T |
Leu184Leu |
M0062495 |
DEEHEKJG_00028 |
24615 |
66 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
556A>G |
Ile186Val |
M0062496 |
DEEHEKJG_00028 |
24638 |
64 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
579T>C |
Tyr193Tyr |
M0062497 |
DEEHEKJG_00028 |
24644 |
64 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
585G>A |
Ser195Ser |
M0062498 |
DEEHEKJG_00028 |
24647 |
64 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
588T>C |
Arg196Arg |
M0062499 |
DEEHEKJG_00028 |
24674 |
66 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
615A>G |
Pro205Pro |
M0062500 |
DEEHEKJG_00028 |
24687 |
60 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
628G>A |
Val210Ile |
M0062501 |
DEEHEKJG_00028 |
24692 |
64 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
633T>C |
Val211Val |
M0062502 |
DEEHEKJG_00028 |
24696 |
66 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
637A>G |
Asn213Asp |
M0062503 |
DEEHEKJG_00028 |
24698 |
60 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
639C>T |
Asn213Asn |
M0062504 |
DEEHEKJG_00028 |
24710 |
64 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
651T>C |
Ala217Ala |
M0062505 |
DEEHEKJG_00028 |
24751 |
61 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
692C>T |
Ser231Leu |
M0062506 |
DEEHEKJG_00028 |
24755 |
66 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
696A>G |
Arg232Arg |
M0062507 |
DEEHEKJG_00028 |
24794 |
68 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
735G>A |
Ser245Ser |
M0062508 |
DEEHEKJG_00028 |
24810 |
61 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
751C>T |
Arg251Cys |
M0062509 |
DEEHEKJG_00029 |
24898 |
63 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
24C>T |
Ser8Ser |
M0062510 |
DEEHEKJG_00029 |
24926 |
55 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
52C>T |
Pro18Ser |
M0062511 |
DEEHEKJG_00029 |
24937 |
61 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
63T>C |
Asp21Asp |
M0062512 |
DEEHEKJG_00029 |
24976 |
62 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
102A>G |
Pro34Pro |
M0062513 |
DEEHEKJG_00029 |
24994 |
62 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
120G>T |
Pro40Pro |
M0062514 |
DEEHEKJG_00029 |
24995 |
62 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
121G>A |
Ala41Thr |
M0062515 |
DEEHEKJG_00029 |
25000 |
62 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
126T>C |
Ala42Ala |
M0062516 |
DEEHEKJG_00029 |
25028 |
60 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
154T>C |
Phe52Leu |
M0062517 |
DEEHEKJG_00029 |
25066 |
62 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
192A>G |
Ser64Ser |
M0062518 |
DEEHEKJG_00029 |
25099 |
63 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
225G>A |
Ser75Ser |
M0062519 |
DEEHEKJG_00029 |
25153 |
56 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
279G>A |
Val93Val |
M0062520 |
DEEHEKJG_00029 |
25156 |
66 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
282A>G |
Arg94Arg |
M0062521 |
DEEHEKJG_00029 |
25309 |
65 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
435T>C |
Leu145Leu |
M0062522 |
DEEHEKJG_00008 |
7965 |
85 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
273T>C |
Asp91Asp |
M0062523 |
DEEHEKJG_00008 |
8016 |
85 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
324G>A |
Ser108Ser |
M0062524 |
DEEHEKJG_00008 |
8026 |
85 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
334G>A |
Val112Ile |
M0062525 |
DEEHEKJG_00008 |
8370 |
85 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
678C>A |
Ala226Ala |
M0062526 |
DEEHEKJG_00009 |
8887 |
31 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
269A>G |
His90Arg |
M0062527 |
DEEHEKJG_00011 |
10130 |
102 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-47T>G |
None |
M0062528 |
DEEHEKJG_00012 |
10172 |
104 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1222G>A |
Val408Ile |
M0062529 |
DEEHEKJG_00012 |
11253 |
86 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
141A>G |
Gly47Gly |
M0062530 |
DEEHEKJG_00012 |
11307 |
87 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
87G>A |
Met29Ile |
M0062531 |
DEEHEKJG_00012 |
11379 |
91 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
15G>A |
Lys5Lys |
M0062532 |
DEEHEKJG_00012 |
11382 |
93 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
12A>C |
Ile4Ile |
M0062533 |
DEEHEKJG_00011 |
11397 |
90 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1314C>A |
None |
M0062534 |
DEEHEKJG_00011 |
11403 |
91 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1320G>A |
None |
M0062535 |
DEEHEKJG_00011 |
11412 |
90 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1329C>A |
None |
M0062536 |
DEEHEKJG_00013 |
11431 |
91 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
286G>A |
Val96Ile |
M0062537 |
DEEHEKJG_00013 |
11566 |
87 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
151G>A |
Asp51Asn |
M0062538 |
DEEHEKJG_00014 |
11755 |
89 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
335A>G |
Lys112Arg |
M0062539 |
DEEHEKJG_00014 |
11780 |
89 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
310C>T |
Leu104Phe |
M0062540 |
DEEHEKJG_00014 |
11852 |
85 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
238G>A |
Asp80Asn |
M0062541 |
DEEHEKJG_00014 |
11899 |
106 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
191T>A |
Phe64Tyr |
M0062542 |
DEEHEKJG_00014 |
11904 |
85 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
186A>C |
Gly62Gly |
M0062543 |
DEEHEKJG_00014 |
12002 |
83 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
88G>A |
Gly30Arg |
M0062544 |
DEEHEKJG_00011 |
12264 |
69 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2181A>C |
None |
M0062545 |
DEEHEKJG_00011 |
12267 |
69 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2184C>T |
None |
M0062546 |
DEEHEKJG_00011 |
12277 |
59 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2194G>A |
None |
M0062547 |
DEEHEKJG_00011 |
12359 |
71 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2276C>T |
None |
M0062548 |
DEEHEKJG_00015 |
12444 |
26 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
85G>A |
Gly29Arg |
M0062549 |
DEEHEKJG_00015 |
12445 |
26 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
86G>A |
Gly29Glu |
M0062550 |
DEEHEKJG_00015 |
12763 |
65 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
404G>A |
Arg135Lys |
M0062551 |
DEEHEKJG_00015 |
12806 |
56 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
447T>C |
Arg149Arg |
M0062552 |
DEEHEKJG_00015 |
12816 |
65 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
457G>A |
Gly153Arg |
M0062553 |
DEEHEKJG_00015 |
12833 |
56 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
474A>G |
Thr158Thr |
M0062554 |
DEEHEKJG_00015 |
12863 |
67 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
504C>T |
Asp168Asp |
M0062555 |
DEEHEKJG_00015 |
12867 |
67 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
508G>A |
Val170Met |
M0062556 |
DEEHEKJG_00015 |
12869 |
67 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
510G>A |
Val170Val |
M0062557 |
DEEHEKJG_00015 |
12878 |
67 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
519T>C |
Tyr173Tyr |
M0062558 |
DEEHEKJG_00015 |
12897 |
67 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
538G>A |
Gly180Ser |
M0062559 |
DEEHEKJG_00015 |
12924 |
67 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
565T>A |
Ser189Thr |
M0062560 |
DEEHEKJG_00015 |
12927 |
67 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
568T>C |
Leu190Leu |
M0062561 |
DEEHEKJG_00015 |
12929 |
67 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
570G>A |
Leu190Leu |
M0062562 |
DEEHEKJG_00015 |
13050 |
56 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
691A>G |
Ser231Gly |
M0062563 |
DEEHEKJG_00015 |
13138 |
55 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
779C>T |
Ala260Val |
M0062564 |
DEEHEKJG_00015 |
13188 |
53 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
829C>T |
Leu277Phe |
M0062565 |
DEEHEKJG_00015 |
13345 |
55 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
986C>T |
Pro329Leu |
M0062566 |
DEEHEKJG_00015 |
13415 |
58 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1056C>T |
Tyr352Tyr |
M0062567 |
DEEHEKJG_00015 |
13499 |
65 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1140C>T |
Tyr380Tyr |
M0062568 |
DEEHEKJG_00015 |
13505 |
65 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1146A>G |
Glu382Glu |
M0062569 |
DEEHEKJG_00015 |
13541 |
56 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1182G>T |
Val394Val |
M0062570 |
DEEHEKJG_00015 |
13571 |
66 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1212C>T |
Asp404Asp |
M0062571 |
DEEHEKJG_00015 |
13610 |
66 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1251G>A |
Arg417Arg |
M0062572 |
DEEHEKJG_00015 |
13735 |
56 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1376C>T |
Ser459Leu |
M0062573 |
DEEHEKJG_00015 |
13868 |
55 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1509A>G |
Ser503Ser |
M0062574 |
DEEHEKJG_00016 |
13985 |
56 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
96G>A |
Arg32Arg |
M0062575 |
DEEHEKJG_00016 |
14010 |
60 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
121G>A |
Asp41Asn |
M0062576 |
DEEHEKJG_00016 |
14016 |
58 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
127C>T |
Leu43Leu |
M0062577 |
DEEHEKJG_00016 |
14132 |
64 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
243T>C |
Phe81Phe |
M0062578 |
DEEHEKJG_00016 |
14204 |
59 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
315G>A |
Ser105Ser |
M0062579 |
DEEHEKJG_00016 |
14219 |
61 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
330T>C |
Phe110Phe |
M0062580 |
DEEHEKJG_00011 |
14284 |
62 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4201T>G |
None |
M0062581 |
DEEHEKJG_00011 |
14290 |
62 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4207C>T |
None |
M0062582 |
DEEHEKJG_00011 |
14312 |
53 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4229A>C |
None |
M0062583 |
DEEHEKJG_00011 |
14339 |
53 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4256T>C |
None |
M0062584 |
DEEHEKJG_00011 |
14340 |
53 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4257T>C |
None |
M0062585 |
DEEHEKJG_00011 |
14392 |
61 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4309A>T |
None |
M0062586 |
DEEHEKJG_00011 |
14405 |
61 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4322C>T |
None |
M0062587 |
DEEHEKJG_00011 |
14487 |
48 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4404A>G |
None |
M0062588 |
DEEHEKJG_00011 |
14621 |
48 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4538T>C |
None |
M0062589 |
DEEHEKJG_00011 |
14630 |
55 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4547A>G |
None |
M0062590 |
DEEHEKJG_00011 |
14685 |
56 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4602T>G |
None |
M0062591 |
DEEHEKJG_00011 |
14702 |
52 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4619G>A |
None |
M0062592 |
DEEHEKJG_00011 |
14736 |
52 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4653C>G |
None |
M0062593 |
DEEHEKJG_00011 |
14765 |
45 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4682G>A |
None |
M0062594 |
DEEHEKJG_00011 |
14780 |
52 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4697A>G |
None |
M0062595 |
DEEHEKJG_00011 |
14805 |
52 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4722C>T |
None |
M0062596 |
DEEHEKJG_00011 |
14829 |
52 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4746C>T |
None |
M0062597 |
DEEHEKJG_00011 |
14852 |
49 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4769G>C |
None |
M0062598 |
DEEHEKJG_00011 |
14856 |
46 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4773G>A |
None |
M0062599 |
DEEHEKJG_00011 |
14857 |
46 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4774C>T |
None |
M0062600 |
DEEHEKJG_00011 |
14892 |
55 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4809A>G |
None |
M0062601 |
DEEHEKJG_00011 |
14962 |
60 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4879C>T |
None |
M0062602 |
DEEHEKJG_00019 |
19545 |
72 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2505G>T |
None |
M0062603 |
DEEHEKJG_00019 |
19546 |
77 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2506C>A |
None |
M0062604 |
DEEHEKJG_00023 |
20435 |
59 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
498T>C |
Asp166Asp |
M0062605 |
DEEHEKJG_00030 |
26682 |
119 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
339T>C |
Leu113Leu |
M0062606 |
DEEHEKJG_00030 |
26691 |
119 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
348G>A |
Gly116Gly |
M0062607 |
DEEHEKJG_00030 |
26709 |
119 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
366A>G |
Lys122Lys |
M0062608 |
DEEHEKJG_00030 |
26718 |
119 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
375T>C |
Ile125Ile |
M0062609 |
DEEHEKJG_00030 |
26736 |
129 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
393T>C |
Thr131Thr |
M0062610 |
DEEHEKJG_00030 |
26756 |
119 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
413T>C |
Leu138Pro |
M0062611 |
DEEHEKJG_00030 |
26757 |
119 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
414T>C |
Leu138Leu |
M0062612 |
DEEHEKJG_00030 |
26760 |
119 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
417G>T |
Leu139Leu |
M0062613 |
DEEHEKJG_00030 |
26815 |
121 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
472G>T |
Ala158Ser |
M0062614 |
DEEHEKJG_00030 |
26821 |
121 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
478T>C |
Leu160Leu |
M0062615 |
DEEHEKJG_00030 |
26829 |
188 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
486T>C |
Gly162Gly |
M0062616 |
DEEHEKJG_00030 |
26890 |
113 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
547G>A |
Ala183Thr |
M0062617 |
DEEHEKJG_00031 |
27541 |
106 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
324G>A |
Pro108Pro |
M0062618 |
DEEHEKJG_00031 |
27592 |
107 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
375T>C |
Thr125Thr |
M0062619 |
DEEHEKJG_00031 |
27693 |
100 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
476C>T |
Ala159Val |
M0062620 |
DEEHEKJG_00033 |
28788 |
118 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
13T>G |
Phe5Val |
M0062621 |
DEEHEKJG_00033 |
28826 |
113 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
Asp17Asp |
M0062622 |
DEEHEKJG_00033 |
28837 |
113 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
62A>G |
Tyr21Cys |
M0062623 |
DEEHEKJG_00034 |
30188 |
156 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
907A>G |
Asn303Asp |
M0062624 |
DEEHEKJG_00034 |
30206 |
156 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
925T>C |
Trp309Arg |
M0062625 |
DEEHEKJG_00034 |
30282 |
107 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1001C>G |
Thr334Ser |
M0062626 |
DEEHEKJG_00034 |
30289 |
107 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1008C>T |
Ala336Ala |
M0062627 |
DEEHEKJG_00034 |
30295 |
154 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1014A>C |
Val338Val |
M0062628 |
DEEHEKJG_00034 |
30310 |
154 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1029C>T |
Val343Val |
M0062629 |
DEEHEKJG_00034 |
30342 |
151 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1061A>C |
Glu354Ala |
M0062630 |
DEEHEKJG_00034 |
30350 |
153 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1069G>A |
Val357Met |
M0062631 |
DEEHEKJG_00035 |
32133 |
85 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1302T>C |
Gly434Gly |
M0062632 |
DEEHEKJG_00035 |
32136 |
85 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1299A>G |
Lys433Lys |
M0062633 |
DEEHEKJG_00035 |
32142 |
85 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1293C>T |
Phe431Phe |
M0062634 |
DEEHEKJG_00035 |
32160 |
62 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1275C>T |
Ala425Ala |
M0062635 |
DEEHEKJG_00035 |
32169 |
84 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1266T>G |
Thr422Thr |
M0062636 |
DEEHEKJG_00035 |
32171 |
84 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1264A>G |
Thr422Ala |
M0062637 |
DEEHEKJG_00035 |
32214 |
64 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1221C>T |
Gly407Gly |
M0062638 |
DEEHEKJG_00035 |
32247 |
84 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1188T>C |
Pro396Pro |
M0062639 |
DEEHEKJG_00040 |
37455 |
38 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2464G>A |
Asp822Asn |
M0062640 |
DEEHEKJG_00041 |
39990 |
37 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
951T>C |
Gly317Gly |
M0062641 |
DEEHEKJG_00041 |
40010 |
37 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
931G>A |
Ala311Thr |
M0062642 |
DEEHEKJG_00042 |
41216 |
34 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
501G>A |
Val167Val |
M0062643 |
DEEHEKJG_00045 |
44015 |
41 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
197C>G |
Ala66Gly |
M0062644 |
DEEHEKJG_00051 |
52698 |
82 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
511T>G |
Ser171Ala |
M0062645 |
DEEHEKJG_00054 |
56440 |
64 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
689G>A |
Arg230His |
M0062646 |
DEEHEKJG_00056 |
58632 |
24 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
377T>C |
Phe126Ser |
M0062647 |
DEEHEKJG_00058 |
60181 |
48 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
112G>C |
Asp38His |
M0062648 |
DEEHEKJG_00058 |
62649 |
54 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2580A>G |
Arg860Arg |
M0062649 |
DEEHEKJG_00059 |
63893 |
51 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1098A>G |
Ile366Met |
M0062650 |
DEEHEKJG_00062 |
65270 |
50 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2568T>C |
None |
M0062651 |
DEEHEKJG_00060 |
68857 |
31 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2061T>A |
None |
M0062652 |
DEEHEKJG_00064 |
70745 |
33 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
880C>T |
Leu294Phe |
M0062653 |
DEEHEKJG_00065 |
71158 |
19 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
131G>A |
Gly44Asp |
M0062654 |
DEEHEKJG_00029 |
26197 |
55 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1323G>A |
Glu441Glu |
M0062655 |
DEEHEKJG_00029 |
26282 |
57 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1408G>A |
Val470Met |
M0062656 |
DEEHEKJG_00029 |
26335 |
82 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1461A>G |
Glu487Glu |
M0062657 |
DEEHEKJG_00029 |
26348 |
60 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1474G>A |
Val492Ile |
M0062658 |
DEEHEKJG_00030 |
26388 |
59 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
45C>T |
Leu15Leu |
M0062659 |
DEEHEKJG_00029 |
24998 |
57 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
124G>A |
Ala42Thr |
M0062660 |
DEEHEKJG_00029 |
25103 |
19 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
229C>T |
Arg77Trp |
M0062661 |
DEEHEKJG_00029 |
25402 |
57 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
528A>G |
Val176Val |
M0062662 |
DEEHEKJG_00029 |
25435 |
58 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
561G>A |
Ala187Ala |
M0062663 |
DEEHEKJG_00029 |
25450 |
51 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
576G>T |
Gly192Gly |
M0062664 |
DEEHEKJG_00029 |
25501 |
60 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
627A>G |
Thr209Thr |
M0062665 |
DEEHEKJG_00029 |
25690 |
50 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
816C>T |
Ile272Ile |
M0062666 |
DEEHEKJG_00029 |
25735 |
50 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
861G>A |
Leu287Leu |
M0062667 |
DEEHEKJG_00029 |
25753 |
60 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
879T>C |
Pro293Pro |
M0062668 |
DEEHEKJG_00029 |
25786 |
62 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
912T>C |
Tyr304Tyr |
M0062669 |
DEEHEKJG_00029 |
25807 |
63 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
933T>C |
Asn311Asn |
M0062670 |
DEEHEKJG_00029 |
25852 |
59 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
978A>G |
Leu326Leu |
M0062671 |
DEEHEKJG_00029 |
25877 |
63 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1003G>C |
Val335Leu |
M0062672 |
DEEHEKJG_00029 |
25882 |
55 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1008C>T |
Gly336Gly |
M0062673 |
DEEHEKJG_00029 |
25886 |
78 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1012C>T |
Leu338Phe |
M0062674 |
DEEHEKJG_00029 |
25897 |
75 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1023T>C |
Ala341Ala |
M0062675 |
DEEHEKJG_00029 |
25900 |
58 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1026C>T |
Asp342Asp |
M0062676 |
DEEHEKJG_00029 |
25904 |
77 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1030G>A |
Val344Ile |
M0062677 |
DEEHEKJG_00029 |
25936 |
75 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1062C>T |
Arg354Arg |
M0062678 |
DEEHEKJG_00029 |
25939 |
75 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1065A>G |
Leu355Leu |
M0062679 |
DEEHEKJG_00029 |
25954 |
56 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1080T>C |
Val360Val |
M0062680 |
DEEHEKJG_00029 |
25962 |
76 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1088C>T |
Ala363Val |
M0062681 |
DEEHEKJG_00029 |
26068 |
78 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1194C>T |
Val398Val |
M0062682 |
DEEHEKJG_00030 |
26489 |
62 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
146C>T |
Ser49Leu |
M0062683 |
DEEHEKJG_00030 |
26490 |
69 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
147G>C |
Ser49Ser |
M0062684 |
DEEHEKJG_00030 |
26513 |
62 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
170T>C |
Val57Ala |
M0062685 |
DEEHEKJG_00030 |
26808 |
59 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
465C>T |
Asp155Asp |
M0062686 |
DEEHEKJG_00030 |
26880 |
62 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
537C>T |
Ile179Ile |
M0062687 |
DEEHEKJG_00030 |
26898 |
62 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
555C>T |
Arg185Arg |
M0062688 |
DEEHEKJG_00030 |
26961 |
59 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
618G>A |
Arg206Arg |
M0062689 |
DEEHEKJG_00030 |
27087 |
64 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
744C>T |
Arg248Arg |
M0062690 |
DEEHEKJG_00030 |
27096 |
64 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
753C>T |
Val251Val |
M0062691 |
DEEHEKJG_00031 |
27940 |
64 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
723C>T |
Ser241Ser |
M0062692 |
DEEHEKJG_00031 |
28018 |
68 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
801G>A |
Thr267Thr |
M0062693 |
DEEHEKJG_00031 |
28051 |
29 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
834C>T |
Ile278Ile |
M0062694 |
DEEHEKJG_00032 |
28217 |
66 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
101G>A |
Arg34His |
M0062695 |
DEEHEKJG_00032 |
28255 |
75 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
139G>A |
Gly47Arg |
M0062696 |
DEEHEKJG_00032 |
28360 |
57 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
244C>T |
His82Tyr |
M0062697 |
DEEHEKJG_00032 |
28733 |
74 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
617T>C |
Val206Ala |
M0062698 |
DEEHEKJG_00032 |
28738 |
65 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
622G>A |
Ala208Thr |
M0062699 |
DEEHEKJG_00033 |
28787 |
64 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
12T>C |
Pro4Pro |
M0062700 |
DEEHEKJG_00005 |
4446 |
36 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
306C>T |
Leu102Leu |
M0062701 |
DEEHEKJG_00005 |
4510 |
39 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
370C>G |
Pro124Ala |
M0062702 |
DEEHEKJG_00005 |
4818 |
41 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
678T>C |
Thr226Thr |
M0062703 |
DEEHEKJG_00006 |
5764 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
36G>A |
Pro12Pro |
M0062704 |
DEEHEKJG_00006 |
5792 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
64T>G |
Ser22Ala |
M0062705 |
DEEHEKJG_00006 |
5798 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
70A>G |
Asn24Asp |
M0062706 |
DEEHEKJG_00006 |
6301 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
573G>A |
Ser191Ser |
M0062707 |
DEEHEKJG_00006 |
6394 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
666T>C |
Thr222Thr |
M0062708 |
DEEHEKJG_00006 |
6430 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
702T>C |
Ala234Ala |
M0062709 |
DEEHEKJG_00006 |
6484 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
756G>A |
Gly252Gly |
M0062710 |
DEEHEKJG_00006 |
6556 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
828C>T |
Ser276Ser |
M0062711 |
DEEHEKJG_00006 |
6566 |
16 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
838A>G |
Ile280Val |
M0062712 |
DEEHEKJG_00006 |
6574 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
846T>C |
Ala282Ala |
M0062713 |
DEEHEKJG_00006 |
6601 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
873T>A |
Gly291Gly |
M0062714 |
DEEHEKJG_00003 |
6707 |
23 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4088T>C |
None |
M0062715 |
DEEHEKJG_00003 |
6712 |
15 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4093G>A |
None |
M0062716 |
DEEHEKJG_00003 |
6717 |
15 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4098T>C |
None |
M0062717 |
DEEHEKJG_00003 |
6719 |
16 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4100C>T |
None |
M0062718 |
DEEHEKJG_00003 |
6725 |
15 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4106T>G |
None |
M0062719 |
DEEHEKJG_00003 |
6730 |
15 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4111A>T |
None |
M0062720 |
DEEHEKJG_00003 |
6734 |
16 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4115A>G |
None |
M0062721 |
DEEHEKJG_00007 |
6767 |
16 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
13T>A |
Ser5Thr |
M0062722 |
DEEHEKJG_00007 |
6795 |
16 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
41C>T |
Ala14Val |
M0062723 |
DEEHEKJG_00007 |
6798 |
26 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
44T>C |
Val15Ala |
M0062724 |
DEEHEKJG_00007 |
6805 |
16 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
51A>G |
Ile17Met |
M0062725 |
DEEHEKJG_00007 |
6865 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Gly37Gly |
M0062726 |
DEEHEKJG_00007 |
6868 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
114G>C |
Thr38Thr |
M0062727 |
DEEHEKJG_00007 |
6877 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
123T>C |
Phe41Phe |
M0062728 |
DEEHEKJG_00007 |
6941 |
15 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
187A>C |
Lys63Gln |
M0062729 |
DEEHEKJG_00007 |
6976 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
222G>T |
Ala74Ala |
M0062730 |
DEEHEKJG_00007 |
6988 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Ala78Ala |
M0062731 |
DEEHEKJG_00007 |
7015 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
261C>T |
Asn87Asn |
M0062732 |
DEEHEKJG_00007 |
7048 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
294C>T |
Val98Val |
M0062733 |
DEEHEKJG_00007 |
7114 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
360G>A |
Val120Val |
M0062734 |
DEEHEKJG_00007 |
7132 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
378C>T |
Ser126Ser |
M0062735 |
DEEHEKJG_00007 |
7152 |
16 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
398C>A |
Ala133Asp |
M0062736 |
DEEHEKJG_00007 |
7345 |
36 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
591T>C |
Thr197Thr |
M0062737 |
DEEHEKJG_00007 |
7348 |
26 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
594C>T |
Ala198Ala |
M0062738 |
DEEHEKJG_00007 |
7384 |
28 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
630T>C |
Thr210Thr |
M0062739 |
DEEHEKJG_00007 |
7429 |
27 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
675A>G |
Glu225Glu |
M0062740 |
DEEHEKJG_00009 |
8696 |
38 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
78T>C |
Val26Val |
M0062741 |
DEEHEKJG_00009 |
8745 |
34 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
127G>A |
Ala43Thr |
M0062742 |
DEEHEKJG_00009 |
8750 |
34 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
132G>A |
Val44Val |
M0062743 |
DEEHEKJG_00009 |
8774 |
35 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
156G>T |
Gln52His |
M0062744 |
DEEHEKJG_00009 |
8876 |
45 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
258T>C |
Ile86Ile |
M0062745 |
DEEHEKJG_00009 |
8907 |
32 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
289C>T |
Leu97Phe |
M0062746 |
DEEHEKJG_00009 |
8917 |
32 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
299C>T |
Ala100Val |
M0062747 |
DEEHEKJG_00015 |
9197 |
36 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3163G>A |
None |
M0062748 |
DEEHEKJG_00015 |
9207 |
37 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3153A>G |
None |
M0062749 |
DEEHEKJG_00015 |
9274 |
37 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3086A>G |
None |
M0062750 |
DEEHEKJG_00015 |
9283 |
37 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3077G>A |
None |
M0062751 |
DEEHEKJG_00015 |
9319 |
37 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3041C>T |
None |
M0062752 |
DEEHEKJG_00015 |
9327 |
19 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3033G>A |
None |
M0062753 |
DEEHEKJG_00015 |
9392 |
32 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2968G>A |
None |
M0062754 |
DEEHEKJG_00015 |
9402 |
35 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2958T>C |
None |
M0062755 |
DEEHEKJG_00015 |
9426 |
64 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2934T>C |
None |
M0062756 |
DEEHEKJG_00015 |
9449 |
65 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2911T>G |
None |
M0062757 |
DEEHEKJG_00015 |
9453 |
65 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2907T>C |
None |
M0062758 |
DEEHEKJG_00015 |
9462 |
62 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2898C>T |
None |
M0062759 |
DEEHEKJG_00015 |
9471 |
65 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2889A>G |
None |
M0062760 |
DEEHEKJG_00015 |
9487 |
78 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2873T>C |
None |
M0062761 |
DEEHEKJG_00015 |
9524 |
62 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2836C>T |
None |
M0062762 |
DEEHEKJG_00015 |
9542 |
62 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2818C>A |
None |
M0062763 |
DEEHEKJG_00011 |
9628 |
68 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
456C>T |
Pro152Pro |
M0062764 |
DEEHEKJG_00011 |
9636 |
68 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
448C>A |
Leu150Met |
M0062765 |
DEEHEKJG_00011 |
9649 |
72 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
435T>C |
Ser145Ser |
M0062766 |
DEEHEKJG_00011 |
9676 |
68 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
408C>T |
Ser136Ser |
M0062767 |
DEEHEKJG_00011 |
9677 |
54 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
407G>A |
Ser136Asn |
M0062768 |
DEEHEKJG_00011 |
9749 |
52 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
335A>C |
Asp112Ala |
M0062769 |
DEEHEKJG_00011 |
9754 |
57 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
330C>T |
Asn110Asn |
M0062770 |
DEEHEKJG_00011 |
9805 |
47 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
279G>A |
Ser93Ser |
M0062771 |
DEEHEKJG_00011 |
9921 |
47 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
163C>T |
Leu55Leu |
M0062772 |
DEEHEKJG_00011 |
9982 |
64 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
102A>G |
Arg34Arg |
M0062773 |
DEEHEKJG_00011 |
9993 |
47 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
91A>G |
Asn31Asp |
M0062774 |
DEEHEKJG_00015 |
13596 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1237C>G |
His413Asp |
M0062775 |
DEEHEKJG_00032 |
28497 |
71 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
381T>C |
Val127Val |
M0062776 |
DEEHEKJG_00032 |
28510 |
61 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
394C>G |
Gln132Glu |
M0062777 |
DEEHEKJG_00032 |
28573 |
59 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
457G>A |
Val153Ile |
M0062778 |
DEEHEKJG_00032 |
28597 |
59 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
481G>A |
Ala161Thr |
M0062779 |
DEEHEKJG_00032 |
28634 |
68 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
518A>G |
Gln173Arg |
M0062780 |
DEEHEKJG_00033 |
28910 |
52 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
135G>T |
Leu45Leu |
M0062781 |
DEEHEKJG_00033 |
29024 |
58 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
249A>G |
Val83Val |
M0062782 |
DEEHEKJG_00033 |
29043 |
52 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
268G>A |
Gly90Ser |
M0062783 |
DEEHEKJG_00033 |
29182 |
62 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
407C>T |
Thr136Ile |
M0062784 |
DEEHEKJG_00034 |
29317 |
57 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
36C>T |
Gly12Gly |
M0062785 |
DEEHEKJG_00034 |
29482 |
57 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
201T>C |
Ala67Ala |
M0062786 |
DEEHEKJG_00034 |
29553 |
59 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
272A>G |
Lys91Arg |
M0062787 |
DEEHEKJG_00034 |
29555 |
54 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
274C>T |
Leu92Phe |
M0062788 |
DEEHEKJG_00034 |
29614 |
56 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
333C>T |
Thr111Thr |
M0062789 |
DEEHEKJG_00034 |
29685 |
59 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
404C>T |
Ala135Val |
M0062790 |
DEEHEKJG_00034 |
29842 |
59 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
561C>T |
Pro187Pro |
M0062791 |
DEEHEKJG_00034 |
29906 |
52 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
625G>A |
Val209Met |
M0062792 |
DEEHEKJG_00034 |
29928 |
51 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
647C>T |
Ala216Val |
M0062793 |
DEEHEKJG_00034 |
29929 |
51 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
648C>T |
Ala216Ala |
M0062794 |
DEEHEKJG_00034 |
30004 |
57 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
723G>T |
Thr241Thr |
M0062795 |
DEEHEKJG_00034 |
30096 |
44 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
815T>C |
Ile272Thr |
M0062796 |
DEEHEKJG_00034 |
30165 |
49 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
884A>T |
Lys295Met |
M0062797 |
DEEHEKJG_00034 |
30170 |
49 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
889G>A |
Ala297Thr |
M0062798 |
DEEHEKJG_00034 |
30267 |
48 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
986A>C |
Glu329Ala |
M0062799 |
DEEHEKJG_00034 |
30268 |
48 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
987A>G |
Glu329Glu |
M0062800 |
DEEHEKJG_00034 |
30335 |
47 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1054G>A |
Asp352Asn |
M0062801 |
DEEHEKJG_00034 |
30344 |
47 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1063G>A |
Val355Met |
M0062802 |
DEEHEKJG_00034 |
30383 |
45 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1102C>T |
Leu368Phe |
M0062803 |
DEEHEKJG_00034 |
30523 |
38 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1242C>G |
Ala414Ala |
M0062804 |
DEEHEKJG_00034 |
30589 |
41 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1308T>C |
Ala436Ala |
M0062805 |
DEEHEKJG_00034 |
30677 |
34 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1396C>T |
Leu466Leu |
M0062806 |
DEEHEKJG_00034 |
30721 |
37 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1440C>G |
Ala480Ala |
M0062807 |
DEEHEKJG_00034 |
30853 |
39 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1572C>T |
Val524Val |
M0062808 |
DEEHEKJG_00034 |
30859 |
45 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1578G>C |
Gly526Gly |
M0062809 |
DEEHEKJG_00034 |
30897 |
45 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1616C>G |
Ala539Gly |
M0062810 |
DEEHEKJG_00034 |
30899 |
39 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1618A>G |
Thr540Ala |
M0062811 |
DEEHEKJG_00034 |
30924 |
47 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1643T>C |
Leu548Ser |
M0062812 |
DEEHEKJG_00034 |
30946 |
41 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1665C>T |
Ser555Ser |
M0062813 |
DEEHEKJG_00034 |
30948 |
47 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1667C>T |
Pro556Leu |
M0062814 |
DEEHEKJG_00034 |
30952 |
41 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1671C>T |
Ala557Ala |
M0062815 |
DEEHEKJG_00034 |
30997 |
42 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1716C>T |
Gly572Gly |
M0062816 |
DEEHEKJG_00034 |
31004 |
42 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1723A>G |
Lys575Glu |
M0062817 |
DEEHEKJG_00034 |
31015 |
36 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1734C>T |
Val578Val |
M0062818 |
DEEHEKJG_00034 |
31024 |
36 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1743C>T |
Cys581Cys |
M0062819 |
DEEHEKJG_00034 |
31040 |
36 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1759C>G |
His587Asp |
M0062820 |
DEEHEKJG_00034 |
31045 |
36 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1764C>T |
Gly588Gly |
M0062821 |
DEEHEKJG_00034 |
31060 |
42 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1779A>G |
Pro593Pro |
M0062822 |
DEEHEKJG_00034 |
31171 |
42 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1890G>A |
Glu630Glu |
M0062823 |
DEEHEKJG_00034 |
31186 |
42 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1905G>T |
Pro635Pro |
M0062824 |
DEEHEKJG_00034 |
31197 |
48 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1916A>C |
Asp639Ala |
M0062825 |
DEEHEKJG_00034 |
31267 |
41 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1986G>A |
Ser662Ser |
M0062826 |
DEEHEKJG_00034 |
31294 |
38 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2013G>A |
Leu671Leu |
M0062827 |
DEEHEKJG_00034 |
31534 |
28 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2253C>T |
Ala751Ala |
M0062828 |
DEEHEKJG_00034 |
31552 |
30 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2271G>A |
Pro757Pro |
M0062829 |
DEEHEKJG_00034 |
31576 |
29 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2295C>T |
Arg765Arg |
M0062830 |
DEEHEKJG_00034 |
31636 |
25 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2355A>G |
Val785Val |
M0062831 |
DEEHEKJG_00034 |
31681 |
28 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2400T>C |
Val800Val |
M0062832 |
DEEHEKJG_00034 |
31699 |
29 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2418C>T |
Ala806Ala |
M0062833 |
DEEHEKJG_00034 |
31825 |
24 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2544T>C |
Ser848Ser |
M0062834 |
DEEHEKJG_00034 |
31834 |
24 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2553T>A |
Leu851Leu |
M0062835 |
DEEHEKJG_00034 |
31874 |
24 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2593T>C |
Leu865Leu |
M0062836 |
DEEHEKJG_00034 |
31894 |
22 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2613G>T |
Leu871Leu |
M0062837 |
DEEHEKJG_00034 |
31930 |
24 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2649G>A |
Arg883Arg |
M0062838 |
DEEHEKJG_00034 |
31984 |
22 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2703G>C |
Glu901Asp |
M0062839 |
DEEHEKJG_00034 |
31991 |
24 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2710A>G |
Ile904Val |
M0062840 |
DEEHEKJG_00034 |
32029 |
24 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2748A>G |
Arg916Arg |
M0062841 |
DEEHEKJG_00036 |
32048 |
24 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1774C>T |
None |
M0062842 |
DEEHEKJG_00036 |
32052 |
24 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1770T>C |
None |
M0062843 |
DEEHEKJG_00036 |
32056 |
22 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1766A>G |
None |
M0062844 |
DEEHEKJG_00036 |
32057 |
24 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1765A>T |
None |
M0062845 |
DEEHEKJG_00035 |
32099 |
20 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1336G>A |
Glu446Lys |
M0062846 |
DEEHEKJG_00035 |
32121 |
23 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1314T>C |
Gly438Gly |
M0062847 |
DEEHEKJG_00035 |
32148 |
23 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1287T>C |
Asp429Asp |
M0062848 |
DEEHEKJG_00035 |
32192 |
20 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1243G>A |
Val415Met |
M0062849 |
DEEHEKJG_00035 |
32254 |
19 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1181T>C |
Val394Ala |
M0062850 |
DEEHEKJG_00035 |
32328 |
22 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1107G>A |
Lys369Lys |
M0062851 |
DEEHEKJG_00035 |
32334 |
22 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1101T>C |
Gly367Gly |
M0062852 |
DEEHEKJG_00035 |
32382 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1053T>C |
Ser351Ser |
M0062853 |
DEEHEKJG_00035 |
32405 |
21 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1030T>C |
Phe344Leu |
M0062854 |
DEEHEKJG_00035 |
32417 |
19 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1018G>A |
Val340Met |
M0062855 |
DEEHEKJG_00035 |
32436 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
999G>A |
Pro333Pro |
M0062856 |
DEEHEKJG_00035 |
32454 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
981T>C |
Ala327Ala |
M0062857 |
DEEHEKJG_00035 |
32466 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
969A>G |
Ala323Ala |
M0062858 |
DEEHEKJG_00035 |
32469 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
966C>T |
Thr322Thr |
M0062859 |
DEEHEKJG_00035 |
32476 |
21 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
959C>T |
Thr320Ile |
M0062860 |
DEEHEKJG_00035 |
32486 |
21 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
949G>A |
Ala317Thr |
M0062861 |
DEEHEKJG_00035 |
32525 |
21 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
910G>A |
Val304Met |
M0062862 |
DEEHEKJG_00035 |
32559 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
876G>C |
Gly292Gly |
M0062863 |
DEEHEKJG_00035 |
32619 |
19 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
816C>T |
His272His |
M0062864 |
DEEHEKJG_00035 |
32622 |
19 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
813C>T |
Phe271Phe |
M0062865 |
DEEHEKJG_00035 |
32642 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
793T>C |
Leu265Leu |
M0062866 |
DEEHEKJG_00035 |
32652 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
783G>A |
Val261Val |
M0062867 |
DEEHEKJG_00035 |
32658 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
777T>C |
Tyr259Tyr |
M0062868 |
DEEHEKJG_00035 |
32688 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
747T>C |
Ile249Ile |
M0062869 |
DEEHEKJG_00035 |
32724 |
19 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
711G>A |
Gly237Gly |
M0062870 |
DEEHEKJG_00035 |
32726 |
19 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
709G>A |
Gly237Arg |
M0062871 |
DEEHEKJG_00035 |
32730 |
22 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
705C>T |
Tyr235Tyr |
M0062872 |
DEEHEKJG_00035 |
32765 |
21 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
670G>A |
Ala224Thr |
M0062873 |
DEEHEKJG_00035 |
32778 |
24 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
657T>C |
Ser219Ser |
M0062874 |
DEEHEKJG_00035 |
32791 |
21 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
644C>T |
Pro215Leu |
M0062875 |
DEEHEKJG_00035 |
32841 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
594T>C |
Val198Val |
M0062876 |
DEEHEKJG_00035 |
32862 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
573T>C |
Ile191Ile |
M0062877 |
DEEHEKJG_00035 |
32865 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
570T>C |
Cys190Cys |
M0062878 |
DEEHEKJG_00035 |
32880 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
555T>C |
Asp185Asp |
M0062879 |
DEEHEKJG_00035 |
32892 |
18 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
543A>G |
Val181Val |
M0062880 |
DEEHEKJG_00035 |
32928 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
507A>C |
Ala169Ala |
M0062881 |
DEEHEKJG_00035 |
32931 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
504A>T |
Ala168Ala |
M0062882 |
DEEHEKJG_00035 |
32940 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
495C>G |
Ala165Ala |
M0062883 |
DEEHEKJG_00035 |
32961 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
474G>A |
Pro158Pro |
M0062884 |
DEEHEKJG_00035 |
33003 |
19 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
432C>T |
Arg144Arg |
M0062885 |
DEEHEKJG_00035 |
33021 |
18 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
414G>A |
Glu138Glu |
M0062886 |
DEEHEKJG_00035 |
33039 |
18 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Ala132Ala |
M0062887 |
DEEHEKJG_00035 |
33060 |
18 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
375G>C |
Leu125Leu |
M0062888 |
DEEHEKJG_00035 |
33120 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
315T>C |
Gly105Gly |
M0062889 |
DEEHEKJG_00035 |
33132 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
303G>A |
Leu101Leu |
M0062890 |
DEEHEKJG_00035 |
33204 |
18 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
231T>C |
Arg77Arg |
M0062891 |
DEEHEKJG_00035 |
33216 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
219T>C |
Val73Val |
M0062892 |
DEEHEKJG_00035 |
33222 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
213C>T |
Val71Val |
M0062893 |
DEEHEKJG_00035 |
33224 |
20 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
211G>A |
Val71Ile |
M0062894 |
DEEHEKJG_00035 |
33324 |
19 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
111T>C |
Ala37Ala |
M0062895 |
DEEHEKJG_00035 |
33385 |
18 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
50A>G |
Lys17Arg |
M0062896 |
DEEHEKJG_00035 |
33397 |
18 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
38G>A |
Arg13His |
M0062897 |
DEEHEKJG_00035 |
33420 |
18 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
15C>T |
Asn5Asn |
M0062898 |
DEEHEKJG_00035 |
33493 |
17 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-59C>T |
None |
M0062899 |
DEEHEKJG_00035 |
33495 |
17 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-61C>T |
None |
M0062900 |
DEEHEKJG_00035 |
33506 |
17 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-72A>G |
None |
M0062901 |
DEEHEKJG_00035 |
33523 |
17 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-89A>G |
None |
M0062902 |
DEEHEKJG_00035 |
33538 |
17 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-104C>A |
None |
M0062903 |
DEEHEKJG_00035 |
33575 |
17 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-141A>G |
None |
M0062904 |
DEEHEKJG_00035 |
33610 |
17 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-176A>G |
None |
M0062905 |
DEEHEKJG_00035 |
33653 |
17 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-219G>C |
None |
M0062906 |
DEEHEKJG_00035 |
33663 |
17 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-229G>A |
None |
M0062907 |
DEEHEKJG_00035 |
33744 |
18 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-310A>G |
None |
M0062908 |
DEEHEKJG_00035 |
33748 |
18 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-314T>C |
None |
M0062909 |
DEEHEKJG_00035 |
33749 |
17 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-315T>C |
None |
M0062910 |
DEEHEKJG_00035 |
33751 |
17 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-317C>T |
None |
M0062911 |
DEEHEKJG_00035 |
33794 |
17 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-360G>A |
None |
M0062912 |
DEEHEKJG_00036 |
33905 |
18 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
84A>G |
Lys28Lys |
M0062913 |
DEEHEKJG_00036 |
33915 |
17 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
94C>T |
Pro32Ser |
M0062914 |
DEEHEKJG_00036 |
33950 |
18 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
129T>G |
Asp43Glu |
M0062915 |
DEEHEKJG_00036 |
33954 |
18 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
133G>A |
Val45Ile |
M0062916 |
DEEHEKJG_00036 |
33959 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
138A>G |
Thr46Thr |
M0062917 |
DEEHEKJG_00036 |
33975 |
18 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
154T>C |
Ser52Pro |
M0062918 |
DEEHEKJG_00036 |
33978 |
18 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
157T>C |
Cys53Arg |
M0062919 |
DEEHEKJG_00036 |
34010 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
189T>C |
Thr63Thr |
M0062920 |
DEEHEKJG_00036 |
34019 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
198T>C |
Pro66Pro |
M0062921 |
DEEHEKJG_00036 |
34034 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
213A>G |
Lys71Lys |
M0062922 |
DEEHEKJG_00036 |
34064 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
243C>G |
Gly81Gly |
M0062923 |
DEEHEKJG_00036 |
34079 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Gly86Gly |
M0062924 |
DEEHEKJG_00036 |
34082 |
18 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
261A>G |
Lys87Lys |
M0062925 |
DEEHEKJG_00036 |
34085 |
18 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
264T>C |
His88His |
M0062926 |
DEEHEKJG_00036 |
34092 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
271C>T |
Leu91Leu |
M0062927 |
DEEHEKJG_00036 |
34100 |
18 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
279A>G |
Leu93Leu |
M0062928 |
DEEHEKJG_00036 |
34148 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
327T>C |
Ala109Ala |
M0062929 |
DEEHEKJG_00036 |
34151 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
330C>T |
Gly110Gly |
M0062930 |
DEEHEKJG_00036 |
34187 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
366C>T |
Leu122Leu |
M0062931 |
DEEHEKJG_00036 |
34220 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
399T>C |
Ile133Ile |
M0062932 |
DEEHEKJG_00036 |
34289 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
468T>C |
Ile156Ile |
M0062933 |
DEEHEKJG_00036 |
34382 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
561C>T |
Gly187Gly |
M0062934 |
DEEHEKJG_00036 |
34415 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
594G>A |
Ala198Ala |
M0062935 |
DEEHEKJG_00036 |
34418 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
597T>C |
Ala199Ala |
M0062936 |
DEEHEKJG_00036 |
34424 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
603G>A |
Glu201Glu |
M0062937 |
DEEHEKJG_00036 |
34440 |
17 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
619T>G |
Ser207Ala |
M0062938 |
DEEHEKJG_00036 |
34487 |
18 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
666C>T |
Ile222Ile |
M0062939 |
DEEHEKJG_00036 |
34499 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
678T>C |
Tyr226Tyr |
M0062940 |
DEEHEKJG_00036 |
34511 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
690A>G |
Lys230Lys |
M0062941 |
DEEHEKJG_00036 |
34583 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
762A>G |
Pro254Pro |
M0062942 |
DEEHEKJG_00036 |
34625 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
804C>T |
His268His |
M0062943 |
DEEHEKJG_00036 |
34637 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
816T>C |
Phe272Phe |
M0062944 |
DEEHEKJG_00036 |
34649 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
828C>A |
Ala276Ala |
M0062945 |
DEEHEKJG_00036 |
34700 |
18 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
879T>C |
Asp293Asp |
M0062946 |
DEEHEKJG_00036 |
34704 |
18 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
883T>C |
Leu295Leu |
M0062947 |
DEEHEKJG_00036 |
34730 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
909T>G |
Ala303Ala |
M0062948 |
DEEHEKJG_00036 |
34775 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
954T>C |
Gly318Gly |
M0062949 |
DEEHEKJG_00036 |
34838 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1017T>C |
Gly339Gly |
M0062950 |
DEEHEKJG_00036 |
34847 |
17 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1026A>C |
Lys342Asn |
M0062951 |
DEEHEKJG_00036 |
34862 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1041G>A |
Lys347Lys |
M0062952 |
DEEHEKJG_00036 |
34894 |
15 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1073C>T |
Pro358Leu |
M0062953 |
DEEHEKJG_00036 |
34968 |
16 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1147A>G |
Ile383Val |
M0062954 |
DEEHEKJG_00036 |
35005 |
15 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1184A>G |
Asp395Gly |
M0062955 |
DEEHEKJG_00036 |
35094 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1273G>A |
Val425Ile |
M0062956 |
DEEHEKJG_00036 |
35294 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1473T>C |
Val491Val |
M0062957 |
DEEHEKJG_00036 |
35315 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1494A>G |
Leu498Leu |
M0062958 |
DEEHEKJG_00036 |
35474 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1653A>C |
Ile551Ile |
M0062959 |
DEEHEKJG_00035 |
35530 |
14 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2096C>T |
None |
M0062960 |
DEEHEKJG_00035 |
35531 |
13 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2097G>A |
None |
M0062961 |
DEEHEKJG_00035 |
35555 |
13 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2121C>T |
None |
M0062962 |
DEEHEKJG_00035 |
35581 |
14 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2147T>C |
None |
M0062963 |
DEEHEKJG_00035 |
35596 |
14 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2162G>A |
None |
M0062964 |
DEEHEKJG_00037 |
35687 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
69G>A |
Glu23Glu |
M0062965 |
DEEHEKJG_00037 |
35696 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
78C>T |
Arg26Arg |
M0062966 |
DEEHEKJG_00037 |
35895 |
17 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
277A>C |
Thr93Pro |
M0062967 |
DEEHEKJG_00037 |
35903 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Gly95Gly |
M0062968 |
DEEHEKJG_00037 |
35911 |
17 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
293A>C |
Glu98Ala |
M0062969 |
DEEHEKJG_00037 |
35921 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
303C>T |
Arg101Arg |
M0062970 |
DEEHEKJG_00038 |
36052 |
15 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
508G>A |
Ala170Thr |
M0062971 |
DEEHEKJG_00038 |
36093 |
14 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
467T>G |
Leu156Trp |
M0062972 |
DEEHEKJG_00038 |
36152 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
408T>C |
Ile136Ile |
M0062973 |
DEEHEKJG_00038 |
36212 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
Asn116Asn |
M0062974 |
DEEHEKJG_00038 |
36224 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
336A>G |
Arg112Arg |
M0062975 |
DEEHEKJG_00038 |
36255 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
305A>G |
His102Arg |
M0062976 |
DEEHEKJG_00038 |
36303 |
15 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
257C>T |
Ala86Val |
M0062977 |
DEEHEKJG_00038 |
36413 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
147A>G |
Gly49Gly |
M0062978 |
DEEHEKJG_00038 |
36485 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
75T>C |
Thr25Thr |
M0062979 |
DEEHEKJG_00039 |
36603 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
647A>G |
His216Arg |
M0062980 |
DEEHEKJG_00039 |
36672 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
578A>G |
Gln193Arg |
M0062981 |
DEEHEKJG_00039 |
36685 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
565A>G |
Thr189Ala |
M0062982 |
DEEHEKJG_00039 |
36725 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
525G>A |
Ala175Ala |
M0062983 |
DEEHEKJG_00039 |
36733 |
15 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
517A>G |
Thr173Ala |
M0062984 |
DEEHEKJG_00039 |
36772 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
478T>C |
Leu160Leu |
M0062985 |
DEEHEKJG_00039 |
36802 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
448A>G |
Met150Val |
M0062986 |
DEEHEKJG_00039 |
36820 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
430G>A |
Asp144Asn |
M0062987 |
DEEHEKJG_00039 |
36824 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
426A>G |
Ser142Ser |
M0062988 |
DEEHEKJG_00039 |
36852 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
398A>G |
His133Arg |
M0062989 |
DEEHEKJG_00039 |
36869 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
381T>C |
Ile127Ile |
M0062990 |
DEEHEKJG_00039 |
36878 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
372A>G |
Leu124Leu |
M0062991 |
DEEHEKJG_00039 |
36912 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
338A>C |
Asn113Thr |
M0062992 |
DEEHEKJG_00039 |
36933 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
317C>A |
Thr106Asn |
M0062993 |
DEEHEKJG_00039 |
36944 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
306A>C |
Val102Val |
M0062994 |
DEEHEKJG_00039 |
36971 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
279C>A |
Leu93Leu |
M0062995 |
DEEHEKJG_00039 |
36984 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
266A>G |
His89Arg |
M0062996 |
DEEHEKJG_00039 |
37002 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
248C>T |
Thr83Met |
M0062997 |
DEEHEKJG_00039 |
37085 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
165T>C |
Leu55Leu |
M0062998 |
DEEHEKJG_00039 |
37112 |
14 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
138A>C |
Gln46His |
M0062999 |
DEEHEKJG_00039 |
37121 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
129G>A |
Arg43Arg |
M0063000 |
DEEHEKJG_00039 |
37133 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
117T>C |
Asp39Asp |
M0063001 |
DEEHEKJG_00039 |
37160 |
14 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
90A>C |
Leu30Phe |
M0063002 |
DEEHEKJG_00039 |
37162 |
14 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
88T>G |
Leu30Val |
M0063003 |
DEEHEKJG_00039 |
37181 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
69C>T |
Arg23Arg |
M0063004 |
DEEHEKJG_00039 |
37202 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
48A>G |
Gln16Gln |
M0063005 |
DEEHEKJG_00039 |
37214 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
36T>C |
Arg12Arg |
M0063006 |
DEEHEKJG_00039 |
37215 |
15 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
35G>A |
Arg12His |
M0063007 |
DEEHEKJG_00039 |
37220 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
30C>T |
Arg10Arg |
M0063008 |
DEEHEKJG_00039 |
37234 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
16A>G |
Thr6Ala |
M0063009 |
DEEHEKJG_00035 |
37300 |
16 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3866A>G |
None |
M0063010 |
DEEHEKJG_00035 |
37315 |
13 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3881C>T |
None |
M0063011 |
DEEHEKJG_00035 |
37356 |
13 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3922A>G |
None |
M0063012 |
DEEHEKJG_00035 |
37416 |
13 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3982T>C |
None |
M0063013 |
DEEHEKJG_00040 |
37477 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2442G>C |
Ala814Ala |
M0063014 |
DEEHEKJG_00040 |
37492 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2427A>G |
Arg809Arg |
M0063015 |
DEEHEKJG_00040 |
37543 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2376C>T |
Leu792Leu |
M0063016 |
DEEHEKJG_00040 |
37548 |
16 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
2371A>G |
Ser791Gly |
M0063017 |
DEEHEKJG_00040 |
37651 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
2268A>G |
Ile756Met |
M0063018 |
DEEHEKJG_00040 |
38038 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1881A>G |
Gln627Gln |
M0063019 |
DEEHEKJG_00040 |
38098 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1821A>G |
Lys607Lys |
M0063020 |
DEEHEKJG_00040 |
38149 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1770T>C |
Thr590Thr |
M0063021 |
DEEHEKJG_00040 |
38365 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1554A>G |
Pro518Pro |
M0063022 |
DEEHEKJG_00040 |
39022 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
897G>A |
Glu299Glu |
M0063023 |
DEEHEKJG_00040 |
39292 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
627T>C |
Ile209Ile |
M0063024 |
DEEHEKJG_00040 |
39294 |
15 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
625A>G |
Ile209Val |
M0063025 |
DEEHEKJG_00040 |
39328 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
591A>G |
Gln197Gln |
M0063026 |
DEEHEKJG_00040 |
39331 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
588A>G |
Gly196Gly |
M0063027 |
DEEHEKJG_00040 |
39360 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
559G>A |
Val187Ile |
M0063028 |
DEEHEKJG_00040 |
39370 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
549T>C |
Asp183Asp |
M0063029 |
DEEHEKJG_00040 |
39372 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
547G>A |
Asp183Asn |
M0063030 |
DEEHEKJG_00040 |
39424 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
495G>A |
Ser165Ser |
M0063031 |
DEEHEKJG_00040 |
39463 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
456T>C |
Gly152Gly |
M0063032 |
DEEHEKJG_00040 |
39494 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
425C>T |
Ala142Val |
M0063033 |
DEEHEKJG_00040 |
39503 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
416G>A |
Arg139Gln |
M0063034 |
DEEHEKJG_00040 |
39520 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
399C>T |
Ser133Ser |
M0063035 |
DEEHEKJG_00040 |
39667 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
252T>C |
Val84Val |
M0063036 |
DEEHEKJG_00041 |
40832 |
15 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
109T>C |
Ser37Pro |
M0063037 |
DEEHEKJG_00042 |
41603 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
114C>T |
Asn38Asn |
M0063038 |
DEEHEKJG_00042 |
41617 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
100T>G |
Ser34Ala |
M0063039 |
DEEHEKJG_00042 |
41678 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
39G>A |
Gln13Gln |
M0063040 |
DEEHEKJG_00042 |
41681 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
36C>T |
Asp12Asp |
M0063041 |
DEEHEKJG_00043 |
41753 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
501A>G |
Arg167Arg |
M0063042 |
DEEHEKJG_00043 |
41797 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
457G>A |
Asp153Asn |
M0063043 |
DEEHEKJG_00043 |
41810 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
444C>T |
Cys148Cys |
M0063044 |
DEEHEKJG_00043 |
41853 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
401A>G |
His134Arg |
M0063045 |
DEEHEKJG_00043 |
41908 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
346T>G |
Ser116Ala |
M0063046 |
DEEHEKJG_00043 |
41912 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
342A>G |
Pro114Pro |
M0063047 |
DEEHEKJG_00043 |
41920 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
334T>C |
Tyr112His |
M0063048 |
DEEHEKJG_00043 |
41930 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
324G>A |
Ala108Ala |
M0063049 |
DEEHEKJG_00043 |
41963 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
291G>C |
Met97Ile |
M0063050 |
DEEHEKJG_00043 |
41966 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
288A>G |
Gly96Gly |
M0063051 |
DEEHEKJG_00043 |
41981 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
273C>G |
Ile91Met |
M0063052 |
DEEHEKJG_00043 |
42003 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
251C>G |
Ala84Gly |
M0063053 |
DEEHEKJG_00043 |
42007 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
247G>A |
Glu83Lys |
M0063054 |
DEEHEKJG_00043 |
42015 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
239A>C |
Asn80Thr |
M0063055 |
DEEHEKJG_00044 |
42491 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
759A>G |
Pro253Pro |
M0063056 |
DEEHEKJG_00044 |
43049 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
201T>C |
Ile67Ile |
M0063057 |
DEEHEKJG_00045 |
43740 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
472T>C |
Leu158Leu |
M0063058 |
DEEHEKJG_00045 |
43846 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Tyr122Tyr |
M0063059 |
DEEHEKJG_00045 |
43939 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
273T>C |
Leu91Leu |
M0063060 |
DEEHEKJG_00045 |
43957 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
255G>A |
Lys85Lys |
M0063061 |
DEEHEKJG_00045 |
43987 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
225C>A |
Thr75Thr |
M0063062 |
DEEHEKJG_00045 |
44107 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
105T>C |
Ser35Ser |
M0063063 |
DEEHEKJG_00046 |
44284 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1248C>A |
His416Gln |
M0063064 |
DEEHEKJG_00046 |
44360 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1172G>A |
Gly391Asp |
M0063065 |
DEEHEKJG_00046 |
44572 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
960C>T |
Ser320Ser |
M0063066 |
DEEHEKJG_00046 |
44608 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
924C>T |
Gly308Gly |
M0063067 |
DEEHEKJG_00046 |
44632 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
900T>C |
Pro300Pro |
M0063068 |
DEEHEKJG_00046 |
44668 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
864C>T |
Pro288Pro |
M0063069 |
DEEHEKJG_00046 |
44674 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
858T>C |
Asp286Asp |
M0063070 |
DEEHEKJG_00046 |
44803 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
729C>A |
Val243Val |
M0063071 |
DEEHEKJG_00046 |
44804 |
14 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
728T>C |
Val243Ala |
M0063072 |
DEEHEKJG_00046 |
44842 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
690T>C |
Gly230Gly |
M0063073 |
DEEHEKJG_00046 |
44851 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
681C>T |
Thr227Thr |
M0063074 |
DEEHEKJG_00046 |
44854 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
678G>A |
Lys226Lys |
M0063075 |
DEEHEKJG_00046 |
44907 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
625T>C |
Leu209Leu |
M0063076 |
DEEHEKJG_00046 |
44908 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
624T>C |
Gly208Gly |
M0063077 |
DEEHEKJG_00046 |
44920 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
612C>T |
Arg204Arg |
M0063078 |
DEEHEKJG_00046 |
44950 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
582A>G |
Leu194Leu |
M0063079 |
DEEHEKJG_00046 |
44952 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
580T>C |
Leu194Leu |
M0063080 |
DEEHEKJG_00046 |
45000 |
14 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
532G>A |
Ala178Thr |
M0063081 |
DEEHEKJG_00046 |
45004 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
528T>C |
Val176Val |
M0063082 |
DEEHEKJG_00046 |
45013 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
519T>C |
Pro173Pro |
M0063083 |
DEEHEKJG_00046 |
45153 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
379G>A |
Glu127Lys |
M0063084 |
DEEHEKJG_00046 |
45154 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
378C>T |
Ile126Ile |
M0063085 |
DEEHEKJG_00046 |
45190 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
342C>T |
Tyr114Tyr |
M0063086 |
DEEHEKJG_00046 |
45196 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
336T>C |
Ala112Ala |
M0063087 |
DEEHEKJG_00046 |
45214 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
318G>C |
Ala106Ala |
M0063088 |
DEEHEKJG_00046 |
45226 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
306T>C |
Gly102Gly |
M0063089 |
DEEHEKJG_00046 |
45250 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
282A>G |
Leu94Leu |
M0063090 |
DEEHEKJG_00046 |
45277 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
255A>G |
Thr85Thr |
M0063091 |
DEEHEKJG_00046 |
45351 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
181A>G |
Thr61Ala |
M0063092 |
DEEHEKJG_00046 |
45353 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
179C>T |
Ala60Val |
M0063093 |
DEEHEKJG_00046 |
45391 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
141A>G |
Leu47Leu |
M0063094 |
DEEHEKJG_00041 |
45594 |
12 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4654C>T |
None |
M0063095 |
DEEHEKJG_00041 |
45603 |
12 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4663T>C |
None |
M0063096 |
DEEHEKJG_00041 |
45605 |
12 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4665C>A |
None |
M0063097 |
DEEHEKJG_00041 |
45613 |
12 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4673C>G |
None |
M0063098 |
DEEHEKJG_00041 |
45631 |
12 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4691G>A |
None |
M0063099 |
DEEHEKJG_00047 |
45894 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
17A>G |
Lys6Arg |
M0063100 |
DEEHEKJG_00047 |
45982 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
105T>C |
Ser35Ser |
M0063101 |
DEEHEKJG_00047 |
46019 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
142A>G |
Asn48Asp |
M0063102 |
DEEHEKJG_00047 |
46063 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
186T>C |
Val62Val |
M0063103 |
DEEHEKJG_00047 |
46087 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
210C>T |
Gly70Gly |
M0063104 |
DEEHEKJG_00047 |
46195 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
318C>T |
His106His |
M0063105 |
DEEHEKJG_00047 |
46234 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
357G>A |
Val119Val |
M0063106 |
DEEHEKJG_00047 |
46283 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
406G>A |
Val136Ile |
M0063107 |
DEEHEKJG_00047 |
46321 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
444G>T |
Arg148Arg |
M0063108 |
DEEHEKJG_00047 |
46329 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
452G>A |
Cys151Tyr |
M0063109 |
DEEHEKJG_00047 |
46365 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
488G>A |
Arg163His |
M0063110 |
DEEHEKJG_00047 |
46378 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
501T>C |
Asp167Asp |
M0063111 |
DEEHEKJG_00047 |
46420 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
543A>G |
Arg181Arg |
M0063112 |
DEEHEKJG_00047 |
46441 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
564C>T |
Ser188Ser |
M0063113 |
DEEHEKJG_00047 |
46447 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
570T>A |
Ala190Ala |
M0063114 |
DEEHEKJG_00047 |
46513 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
636C>T |
Phe212Phe |
M0063115 |
DEEHEKJG_00047 |
46552 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
675G>A |
Glu225Glu |
M0063116 |
DEEHEKJG_00048 |
46644 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
12C>T |
Thr4Thr |
M0063117 |
DEEHEKJG_00048 |
46697 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
65A>G |
His22Arg |
M0063118 |
DEEHEKJG_00048 |
46716 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
84A>G |
Arg28Arg |
M0063119 |
DEEHEKJG_00048 |
46749 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
117G>A |
Pro39Pro |
M0063120 |
DEEHEKJG_00048 |
46776 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
144G>T |
Val48Val |
M0063121 |
DEEHEKJG_00048 |
46789 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
157G>A |
Ala53Thr |
M0063122 |
DEEHEKJG_00048 |
46793 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
161G>C |
Arg54Pro |
M0063123 |
DEEHEKJG_00048 |
46798 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
166C>T |
Leu56Leu |
M0063124 |
DEEHEKJG_00048 |
46807 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
175G>A |
Ala59Thr |
M0063125 |
DEEHEKJG_00048 |
46821 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
189A>G |
Val63Val |
M0063126 |
DEEHEKJG_00048 |
46824 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
192T>C |
Ala64Ala |
M0063127 |
DEEHEKJG_00048 |
46827 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
195C>T |
Thr65Thr |
M0063128 |
DEEHEKJG_00048 |
46845 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Ala71Ala |
M0063129 |
DEEHEKJG_00048 |
46860 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
228C>T |
Asp76Asp |
M0063130 |
DEEHEKJG_00048 |
46935 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
303G>T |
Gly101Gly |
M0063131 |
DEEHEKJG_00048 |
46956 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
324A>G |
Val108Val |
M0063132 |
DEEHEKJG_00048 |
46989 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
357G>T |
Gly119Gly |
M0063133 |
DEEHEKJG_00048 |
47031 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
399T>C |
Tyr133Tyr |
M0063134 |
DEEHEKJG_00048 |
47070 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
438G>A |
Ala146Ala |
M0063135 |
DEEHEKJG_00048 |
47073 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
441G>A |
Gly147Gly |
M0063136 |
DEEHEKJG_00048 |
47154 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
522C>T |
Arg174Arg |
M0063137 |
DEEHEKJG_00048 |
47173 |
14 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
541C>G |
Arg181Gly |
M0063138 |
DEEHEKJG_00048 |
47212 |
14 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
580G>A |
Asp194Asn |
M0063139 |
DEEHEKJG_00048 |
47223 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
591G>A |
Gly197Gly |
M0063140 |
DEEHEKJG_00048 |
47238 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
606C>T |
Gly202Gly |
M0063141 |
DEEHEKJG_00048 |
47268 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Leu212Leu |
M0063142 |
DEEHEKJG_00048 |
47274 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
642C>T |
Ser214Ser |
M0063143 |
DEEHEKJG_00048 |
47277 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
645A>G |
Leu215Leu |
M0063144 |
DEEHEKJG_00048 |
47322 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
690C>T |
Pro230Pro |
M0063145 |
DEEHEKJG_00048 |
47331 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
699T>C |
Ile233Ile |
M0063146 |
DEEHEKJG_00048 |
47394 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
762T>C |
Pro254Pro |
M0063147 |
DEEHEKJG_00048 |
47427 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
795A>C |
Arg265Arg |
M0063148 |
DEEHEKJG_00048 |
47441 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
809C>T |
Ala270Val |
M0063149 |
DEEHEKJG_00048 |
47463 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
831G>A |
Pro277Pro |
M0063150 |
DEEHEKJG_00048 |
47511 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
879C>T |
Ala293Ala |
M0063151 |
DEEHEKJG_00048 |
47520 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
888T>C |
Thr296Thr |
M0063152 |
DEEHEKJG_00048 |
47562 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
930A>C |
Arg310Arg |
M0063153 |
DEEHEKJG_00048 |
47628 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
996A>G |
Leu332Leu |
M0063154 |
DEEHEKJG_00048 |
47655 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1023G>C |
Ala341Ala |
M0063155 |
DEEHEKJG_00048 |
47658 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1026G>C |
Leu342Leu |
M0063156 |
DEEHEKJG_00048 |
47688 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1056A>G |
Val352Val |
M0063157 |
DEEHEKJG_00048 |
47694 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1062C>T |
Ala354Ala |
M0063158 |
DEEHEKJG_00048 |
47718 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1086C>T |
Asn362Asn |
M0063159 |
DEEHEKJG_00048 |
47722 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1090G>A |
Gly364Arg |
M0063160 |
DEEHEKJG_00048 |
47733 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1101C>T |
Pro367Pro |
M0063161 |
DEEHEKJG_00048 |
47769 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1137C>T |
Cys379Cys |
M0063162 |
DEEHEKJG_00049 |
48029 |
14 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
16G>A |
Glu6Lys |
M0063163 |
DEEHEKJG_00049 |
48036 |
14 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
23T>C |
Ile8Thr |
M0063164 |
DEEHEKJG_00049 |
48040 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
27G>A |
Gln9Gln |
M0063165 |
DEEHEKJG_00049 |
48052 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
39C>T |
Gly13Gly |
M0063166 |
DEEHEKJG_00049 |
48055 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
42T>C |
His14His |
M0063167 |
DEEHEKJG_00049 |
48089 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
76A>G |
Lys26Glu |
M0063168 |
DEEHEKJG_00049 |
48128 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
115G>A |
Gly39Ser |
M0063169 |
DEEHEKJG_00049 |
48154 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
141C>T |
Ala47Ala |
M0063170 |
DEEHEKJG_00049 |
48155 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
142G>A |
Ala48Thr |
M0063171 |
DEEHEKJG_00049 |
48295 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
282T>C |
Val94Val |
M0063172 |
DEEHEKJG_00049 |
48667 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
654C>T |
Ser218Ser |
M0063173 |
DEEHEKJG_00049 |
48676 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
663C>T |
Arg221Arg |
M0063174 |
DEEHEKJG_00049 |
48680 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
667A>C |
Arg223Arg |
M0063175 |
DEEHEKJG_00049 |
48682 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
669A>G |
Arg223Arg |
M0063176 |
DEEHEKJG_00049 |
48685 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
672T>G |
Leu224Leu |
M0063177 |
DEEHEKJG_00049 |
48697 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
684G>A |
Leu228Leu |
M0063178 |
DEEHEKJG_00049 |
48703 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
690A>G |
Gln230Gln |
M0063179 |
DEEHEKJG_00049 |
48718 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
705C>T |
Val235Val |
M0063180 |
DEEHEKJG_00049 |
48749 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
736C>G |
Pro246Ala |
M0063181 |
DEEHEKJG_00049 |
48750 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
737C>T |
Pro246Leu |
M0063182 |
DEEHEKJG_00049 |
48761 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
748A>G |
Ile250Val |
M0063183 |
DEEHEKJG_00049 |
48767 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
754G>A |
Ala252Thr |
M0063184 |
DEEHEKJG_00049 |
48779 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
766G>A |
Asp256Asn |
M0063185 |
DEEHEKJG_00049 |
48790 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
777A>C |
Ala259Ala |
M0063186 |
DEEHEKJG_00049 |
48799 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
786A>G |
Ser262Ser |
M0063187 |
DEEHEKJG_00049 |
48820 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
807C>T |
Ile269Ile |
M0063188 |
DEEHEKJG_00049 |
48823 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
810A>G |
Gly270Gly |
M0063189 |
DEEHEKJG_00049 |
48832 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
819T>C |
His273His |
M0063190 |
DEEHEKJG_00049 |
48898 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
885T>C |
Asn295Asn |
M0063191 |
DEEHEKJG_00049 |
48901 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
888T>C |
Val296Val |
M0063192 |
DEEHEKJG_00049 |
48913 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
900G>T |
Ala300Ala |
M0063193 |
DEEHEKJG_00049 |
48940 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
927T>C |
Ala309Ala |
M0063194 |
DEEHEKJG_00049 |
48970 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
957C>T |
Leu319Leu |
M0063195 |
DEEHEKJG_00049 |
48995 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
982G>A |
Glu328Lys |
M0063196 |
DEEHEKJG_00049 |
48996 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
983A>G |
Glu328Gly |
M0063197 |
DEEHEKJG_00049 |
48997 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
984A>C |
Glu328Asp |
M0063198 |
DEEHEKJG_00049 |
49018 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1005G>A |
Glu335Glu |
M0063199 |
DEEHEKJG_00049 |
49033 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1020T>C |
His340His |
M0063200 |
DEEHEKJG_00049 |
49042 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1029T>C |
Gly343Gly |
M0063201 |
DEEHEKJG_00049 |
49084 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1071A>G |
Glu357Glu |
M0063202 |
DEEHEKJG_00049 |
49112 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1099C>T |
Leu367Leu |
M0063203 |
DEEHEKJG_00049 |
49117 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1104C>T |
Arg368Arg |
M0063204 |
DEEHEKJG_00049 |
49132 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1119C>T |
His373His |
M0063205 |
DEEHEKJG_00049 |
49153 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1140T>C |
Cys380Cys |
M0063206 |
DEEHEKJG_00049 |
49156 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1143A>G |
Leu381Leu |
M0063207 |
DEEHEKJG_00049 |
49160 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1147C>T |
Leu383Leu |
M0063208 |
DEEHEKJG_00049 |
49234 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1221T>C |
Thr407Thr |
M0063209 |
DEEHEKJG_00049 |
49243 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1230C>T |
Leu410Leu |
M0063210 |
DEEHEKJG_00049 |
49261 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1248C>T |
Asn416Asn |
M0063211 |
DEEHEKJG_00049 |
49264 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1251G>C |
Thr417Thr |
M0063212 |
DEEHEKJG_00049 |
49324 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1311C>T |
Phe437Phe |
M0063213 |
DEEHEKJG_00034 |
29660 |
20 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
379T>G |
Ser127Ala |
M0063214 |
DEEHEKJG_00029 |
25903 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1029T>G |
Leu343Leu |
M0063215 |
DEEHEKJG_00029 |
25963 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1089C>T |
Ala363Ala |
M0063216 |
DEEHEKJG_00029 |
25969 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1095G>A |
Ala365Ala |
M0063217 |
DEEHEKJG_00030 |
26917 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
574G>T |
Gly192Cys |
M0063218 |
DEEHEKJG_00015 |
13654 |
26 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1295C>T |
Thr432Met |
M0063219 |
DEEHEKJG_00033 |
28943 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
168G>A |
Val56Val |
M0063220 |
DEEHEKJG_00035 |
33592 |
16 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-158G>T |
None |
M0063221 |
DEEHEKJG_00035 |
37276 |
14 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3842G>A |
None |
M0063222 |
DEEHEKJG_00026 |
22882 |
16 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
373A>G |
Thr125Ala |
M0063223 |
DEEHEKJG_00027 |
23493 |
23 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
72C>T |
Arg24Arg |
M0063224 |
DEEHEKJG_00019 |
16570 |
22 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
471C>G |
Ser157Ser |
M0063225 |
DEEHEKJG_00019 |
16681 |
26 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
360C>A |
Leu120Leu |
M0063226 |
DEEHEKJG_00019 |
16888 |
33 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
153C>T |
Cys51Cys |
M0063227 |
DEEHEKJG_00020 |
17268 |
27 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Arg37Arg |
M0063228 |
DEEHEKJG_00020 |
17310 |
27 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
153A>G |
Val51Val |
M0063229 |
DEEHEKJG_00020 |
17546 |
35 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
389G>A |
Gly130Glu |
M0063230 |
DEEHEKJG_00020 |
17609 |
26 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
452A>C |
Glu151Ala |
M0063231 |
DEEHEKJG_00019 |
18077 |
29 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1037A>C |
None |
M0063232 |
DEEHEKJG_00019 |
18144 |
24 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1104T>C |
None |
M0063233 |
DEEHEKJG_00019 |
18292 |
15 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1252G>A |
None |
M0063234 |
DEEHEKJG_00021 |
18631 |
28 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
642G>C |
Ala214Ala |
M0063235 |
DEEHEKJG_00021 |
18748 |
27 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
525A>G |
Leu175Leu |
M0063236 |
DEEHEKJG_00021 |
18786 |
27 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
487A>G |
Thr163Ala |
M0063237 |
DEEHEKJG_00021 |
18841 |
29 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
432T>C |
Thr144Thr |
M0063238 |
DEEHEKJG_00021 |
18865 |
27 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
408G>T |
Glu136Asp |
M0063239 |
DEEHEKJG_00021 |
18871 |
26 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
402C>A |
Asp134Glu |
M0063240 |
DEEHEKJG_00021 |
18903 |
27 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
370G>A |
Asp124Asn |
M0063241 |
DEEHEKJG_00021 |
18937 |
28 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
336C>T |
Thr112Thr |
M0063242 |
DEEHEKJG_00021 |
18964 |
28 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
309C>T |
Asp103Asp |
M0063243 |
DEEHEKJG_00021 |
18997 |
27 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
276A>G |
Arg92Arg |
M0063244 |
DEEHEKJG_00021 |
19013 |
27 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
260G>A |
Arg87His |
M0063245 |
DEEHEKJG_00021 |
19015 |
27 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
258A>G |
Glu86Glu |
M0063246 |
DEEHEKJG_00021 |
19018 |
27 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
255T>C |
Pro85Pro |
M0063247 |
DEEHEKJG_00021 |
19021 |
27 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
252T>C |
Asn84Asn |
M0063248 |
DEEHEKJG_00021 |
19023 |
27 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
250A>C |
Asn84His |
M0063249 |
DEEHEKJG_00021 |
19024 |
27 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
249C>T |
Cys83Cys |
M0063250 |
DEEHEKJG_00021 |
19025 |
27 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
248G>C |
Cys83Ser |
M0063251 |
DEEHEKJG_00021 |
19045 |
27 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
228C>T |
Tyr76Tyr |
M0063252 |
DEEHEKJG_00021 |
19088 |
27 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
185G>A |
Arg62Lys |
M0063253 |
DEEHEKJG_00021 |
19089 |
27 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
184A>G |
Arg62Gly |
M0063254 |
DEEHEKJG_00021 |
19128 |
27 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
145G>A |
Asp49Asn |
M0063255 |
DEEHEKJG_00021 |
19146 |
27 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
127G>C |
Glu43Gln |
M0063256 |
DEEHEKJG_00021 |
19238 |
25 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
35C>A |
Thr12Asn |
M0063257 |
DEEHEKJG_00019 |
19287 |
25 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2247G>A |
None |
M0063258 |
DEEHEKJG_00019 |
19289 |
25 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2249A>G |
None |
M0063259 |
DEEHEKJG_00019 |
19290 |
25 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2250A>G |
None |
M0063260 |
DEEHEKJG_00019 |
19291 |
25 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2251G>T |
None |
M0063261 |
DEEHEKJG_00019 |
19292 |
25 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2252A>G |
None |
M0063262 |
DEEHEKJG_00019 |
19296 |
25 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2256A>T |
None |
M0063263 |
DEEHEKJG_00019 |
19335 |
25 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2295C>T |
None |
M0063264 |
DEEHEKJG_00019 |
19488 |
28 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2448A>G |
None |
M0063265 |
DEEHEKJG_00019 |
19527 |
31 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2487A>G |
None |
M0063266 |
DEEHEKJG_00019 |
19531 |
30 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2491G>C |
None |
M0063267 |
DEEHEKJG_00019 |
19533 |
30 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2493C>T |
None |
M0063268 |
DEEHEKJG_00019 |
19541 |
30 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2501A>G |
None |
M0063269 |
DEEHEKJG_00019 |
19544 |
30 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2504T>C |
None |
M0063270 |
DEEHEKJG_00019 |
19547 |
30 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2507A>G |
None |
M0063271 |
DEEHEKJG_00019 |
19599 |
30 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2559C>T |
None |
M0063272 |
DEEHEKJG_00019 |
19613 |
30 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2573A>G |
None |
M0063273 |
DEEHEKJG_00019 |
19616 |
30 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2576A>C |
None |
M0063274 |
DEEHEKJG_00019 |
19617 |
30 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2577T>G |
None |
M0063275 |
DEEHEKJG_00022 |
19621 |
30 |
Skin |
0.03 |
protein_coding |
start_lost |
HIGH |
1A>G |
Met1? |
M0063276 |
DEEHEKJG_00022 |
19628 |
30 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
8G>A |
Gly3Glu |
M0063277 |
DEEHEKJG_00022 |
19671 |
30 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
51T>C |
Leu17Leu |
M0063278 |
DEEHEKJG_00022 |
19680 |
30 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
60A>G |
Leu20Leu |
M0063279 |
DEEHEKJG_00022 |
19686 |
30 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
66G>A |
Pro22Pro |
M0063280 |
DEEHEKJG_00022 |
19752 |
31 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
132T>C |
Ser44Ser |
M0063281 |
DEEHEKJG_00022 |
19771 |
31 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
151A>G |
Thr51Ala |
M0063282 |
DEEHEKJG_00019 |
19793 |
31 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2753A>G |
None |
M0063283 |
DEEHEKJG_00019 |
19798 |
31 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2758G>C |
None |
M0063284 |
DEEHEKJG_00019 |
19831 |
31 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2791T>C |
None |
M0063285 |
DEEHEKJG_00019 |
19866 |
31 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2826T>C |
None |
M0063286 |
DEEHEKJG_00019 |
19878 |
31 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2838G>T |
None |
M0063287 |
DEEHEKJG_00019 |
19882 |
31 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2842C>T |
None |
M0063288 |
DEEHEKJG_00023 |
20061 |
32 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
124A>G |
Ile42Val |
M0063289 |
DEEHEKJG_00023 |
20063 |
32 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
126T>C |
Ile42Ile |
M0063290 |
DEEHEKJG_00023 |
20066 |
32 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
129A>G |
Glu43Glu |
M0063291 |
DEEHEKJG_00023 |
20075 |
32 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
138G>C |
Thr46Thr |
M0063292 |
DEEHEKJG_00023 |
20081 |
32 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
144C>A |
Thr48Thr |
M0063293 |
DEEHEKJG_00023 |
20105 |
32 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
168G>A |
Pro56Pro |
M0063294 |
DEEHEKJG_00023 |
20107 |
32 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
170C>T |
Ser57Leu |
M0063295 |
DEEHEKJG_00023 |
20108 |
32 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
171G>A |
Ser57Ser |
M0063296 |
DEEHEKJG_00023 |
20132 |
32 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
195C>G |
Ser65Ser |
M0063297 |
DEEHEKJG_00023 |
20134 |
32 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
197G>C |
Ser66Thr |
M0063298 |
DEEHEKJG_00023 |
20135 |
32 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
198T>C |
Ser66Ser |
M0063299 |
DEEHEKJG_00024 |
21006 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
873A>G |
Gly291Gly |
M0063300 |
DEEHEKJG_00029 |
26271 |
24 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1397C>T |
Thr466Ile |
M0063301 |
DEEHEKJG_00040 |
38483 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1436T>C |
Ile479Thr |
M0063302 |
DEEHEKJG_00054 |
56326 |
23 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
575T>C |
Val192Ala |
M0063303 |
DEEHEKJG_00007 |
7459 |
27 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
705C>T |
Ser235Ser |
M0063304 |
DEEHEKJG_00007 |
7467 |
26 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
713G>A |
Gly238Asp |
M0063305 |
DEEHEKJG_00007 |
7470 |
26 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
716C>T |
Ser239Leu |
M0063306 |
DEEHEKJG_00007 |
7488 |
37 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
734C>T |
Ala245Val |
M0063307 |
DEEHEKJG_00007 |
7492 |
20 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
738G>A |
Lys246Lys |
M0063308 |
DEEHEKJG_00007 |
7510 |
27 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
756T>C |
Gly252Gly |
M0063309 |
DEEHEKJG_00026 |
22736 |
25 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
227C>T |
Ala76Val |
M0063310 |
DEEHEKJG_00034 |
31853 |
19 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2572T>A |
Cys858Ser |
M0063311 |
DEEHEKJG_00045 |
44090 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
122T>C |
Phe41Ser |
M0063312 |
DEEHEKJG_00030 |
26356 |
14 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
13A>G |
Thr5Ala |
M0063313 |
DEEHEKJG_00051 |
52766 |
27 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
579C>A |
Gly193Gly |
M0063314 |
DEEHEKJG_00051 |
52785 |
38 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
598T>C |
Ser200Pro |
M0063315 |
DEEHEKJG_00068 |
76778 |
22 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2058A>G |
Pro686Pro |
M0063316 |
DEEHEKJG_00027 |
23963 |
22 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
542G>A |
Ser181Asn |
M0063317 |
DEEHEKJG_00008 |
8061 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
369C>A |
Thr123Thr |
M0063318 |
DEEHEKJG_00011 |
9625 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
459T>C |
Ala153Ala |
M0063319 |
DEEHEKJG_00011 |
9637 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
447G>A |
Pro149Pro |
M0063320 |
DEEHEKJG_00011 |
10042 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
42C>T |
Ile14Ile |
M0063321 |
DEEHEKJG_00025 |
21955 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
26C>A |
Pro9His |
M0063322 |
DEEHEKJG_00017 |
15361 |
24 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
183T>C |
Ala61Ala |
M0063323 |
DEEHEKJG_00017 |
15362 |
24 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
184T>C |
Cys62Arg |
M0063324 |
DEEHEKJG_00018 |
15906 |
22 |
Skin |
0.02 |
protein_coding |
stop_gained |
HIGH |
268G>T |
Glu90* |
M0063325 |
DEEHEKJG_00051 |
52212 |
26 |
Skin |
0.02 |
protein_coding |
stop_gained |
HIGH |
25C>T |
Gln9* |
M0063326 |
DEEHEKJG_00051 |
52214 |
26 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
27A>T |
Gln9His |
M0063327 |
DEEHEKJG_00051 |
52263 |
42 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
76T>C |
Ser26Pro |
M0063328 |
DEEHEKJG_00051 |
52283 |
42 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
96C>T |
Ser32Ser |
M0063329 |
DEEHEKJG_00052 |
52886 |
34 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
58A>C |
Lys20Gln |
M0063330 |
DEEHEKJG_00054 |
56393 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
642T>C |
Gly214Gly |
M0063331 |
DEEHEKJG_00054 |
56411 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
660C>T |
Gly220Gly |
M0063332 |
DEEHEKJG_00054 |
56426 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
675C>T |
Thr225Thr |
M0063333 |
DEEHEKJG_00054 |
56489 |
26 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
738T>C |
Asp246Asp |
M0063334 |
DEEHEKJG_00030 |
26424 |
18 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
81C>T |
Ala27Ala |
M0063335 |
DEEHEKJG_00030 |
26502 |
19 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
159C>T |
Arg53Arg |
M0063336 |
DEEHEKJG_00030 |
26564 |
23 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
221G>A |
Gly74Glu |
M0063337 |
DEEHEKJG_00019 |
19542 |
31 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2502T>G |
None |
M0063338 |
DEEHEKJG_00049 |
50437 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2424T>C |
Ala808Ala |
M0063339 |
DEEHEKJG_00049 |
50461 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2448T>C |
Pro816Pro |
M0063340 |
DEEHEKJG_00049 |
50521 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2508A>G |
Pro836Pro |
M0063341 |
DEEHEKJG_00049 |
50548 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2535T>C |
Asp845Asp |
M0063342 |
DEEHEKJG_00049 |
50593 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2580G>A |
Glu860Glu |
M0063343 |
DEEHEKJG_00049 |
50698 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2685C>T |
Leu895Leu |
M0063344 |
DEEHEKJG_00049 |
50731 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2718T>C |
Pro906Pro |
M0063345 |
DEEHEKJG_00049 |
50746 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2733A>G |
Gly911Gly |
M0063346 |
DEEHEKJG_00049 |
50747 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
2734T>C |
Cys912Arg |
M0063347 |
DEEHEKJG_00049 |
50758 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2745T>C |
Val915Val |
M0063348 |
DEEHEKJG_00049 |
50773 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2760T>C |
Leu920Leu |
M0063349 |
DEEHEKJG_00049 |
50786 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
2773G>A |
Val925Ile |
M0063350 |
DEEHEKJG_00049 |
50812 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2799A>G |
Ala933Ala |
M0063351 |
DEEHEKJG_00049 |
50815 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2802G>A |
Arg934Arg |
M0063352 |
DEEHEKJG_00049 |
50818 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2805T>C |
Leu935Leu |
M0063353 |
DEEHEKJG_00049 |
50842 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2829C>T |
Ser943Ser |
M0063354 |
DEEHEKJG_00049 |
50893 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2880G>A |
Thr960Thr |
M0063355 |
DEEHEKJG_00049 |
50894 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
2881G>A |
Ala961Thr |
M0063356 |
DEEHEKJG_00049 |
50896 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2883T>C |
Ala961Ala |
M0063357 |
DEEHEKJG_00049 |
50931 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
2918C>T |
Ser973Phe |
M0063358 |
DEEHEKJG_00049 |
50932 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2919T>C |
Ser973Ser |
M0063359 |
DEEHEKJG_00049 |
50941 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2928T>C |
Leu976Leu |
M0063360 |
DEEHEKJG_00049 |
50977 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2964T>C |
Ser988Ser |
M0063361 |
DEEHEKJG_00049 |
50989 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2976A>G |
Leu992Leu |
M0063362 |
DEEHEKJG_00049 |
51000 |
14 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
2987G>A |
Arg996Gln |
M0063363 |
DEEHEKJG_00049 |
51016 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
3003C>T |
Ser1001Ser |
M0063364 |
DEEHEKJG_00049 |
51061 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
3048A>G |
Gln1016Gln |
M0063365 |
DEEHEKJG_00049 |
51076 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
3063C>T |
Thr1021Thr |
M0063366 |
DEEHEKJG_00049 |
51084 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
3071G>A |
Arg1024Lys |
M0063367 |
DEEHEKJG_00049 |
51103 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
3090T>A |
Arg1030Arg |
M0063368 |
DEEHEKJG_00050 |
51174 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
36C>T |
Arg12Arg |
M0063369 |
DEEHEKJG_00050 |
51186 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
48A>G |
Ala16Ala |
M0063370 |
DEEHEKJG_00050 |
51187 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
49T>C |
Leu17Leu |
M0063371 |
DEEHEKJG_00050 |
51192 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
54T>C |
Pro18Pro |
M0063372 |
DEEHEKJG_00050 |
51330 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
192A>G |
Arg64Arg |
M0063373 |
DEEHEKJG_00050 |
51352 |
16 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
214A>T |
Thr72Ser |
M0063374 |
DEEHEKJG_00050 |
51417 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
279C>T |
Thr93Thr |
M0063375 |
DEEHEKJG_00050 |
51462 |
16 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
324C>T |
Gly108Gly |
M0063376 |
DEEHEKJG_00050 |
51528 |
15 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
390T>C |
Pro130Pro |
M0063377 |
DEEHEKJG_00050 |
51630 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
492T>C |
Ile164Ile |
M0063378 |
DEEHEKJG_00017 |
15307 |
22 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
129A>G |
Ser43Ser |
M0063379 |
DEEHEKJG_00009 |
8723 |
28 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
105T>C |
His35His |
M0063380 |
DEEHEKJG_00011 |
9944 |
28 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
140G>A |
Arg47Gln |
M0063381 |
DEEHEKJG_00013 |
11588 |
25 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
129G>A |
Val43Val |
M0063382 |
DEEHEKJG_00015 |
13480 |
31 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1121C>T |
Ala374Val |
M0063383 |
DEEHEKJG_00015 |
13729 |
29 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1370T>C |
Leu457Ser |
M0063384 |
DEEHEKJG_00011 |
14977 |
30 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4894A>T |
None |
M0063385 |
DEEHEKJG_00011 |
14991 |
22 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4908T>C |
None |
M0063386 |
DEEHEKJG_00011 |
14999 |
29 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4916C>G |
None |
M0063387 |
DEEHEKJG_00011 |
15003 |
29 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4920A>G |
None |
M0063388 |
DEEHEKJG_00011 |
15006 |
29 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4923C>T |
None |
M0063389 |
DEEHEKJG_00011 |
15045 |
21 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4962G>A |
None |
M0063390 |
DEEHEKJG_00012 |
15111 |
20 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3718T>C |
None |
M0063391 |
DEEHEKJG_00012 |
15136 |
20 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3743G>A |
None |
M0063392 |
DEEHEKJG_00017 |
15211 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
33C>T |
Pro11Pro |
M0063393 |
DEEHEKJG_00017 |
15214 |
21 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
36A>G |
Gln12Gln |
M0063394 |
DEEHEKJG_00017 |
15230 |
21 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
52C>T |
Arg18Trp |
M0063395 |
DEEHEKJG_00029 |
25906 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1032C>T |
Val344Val |
M0063396 |
DEEHEKJG_00029 |
26146 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1272C>T |
Thr424Thr |
M0063397 |
DEEHEKJG_00058 |
60225 |
24 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
156G>C |
Ser52Ser |
M0063398 |
DEEHEKJG_00023 |
20838 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
901C>T |
Leu301Leu |
M0063399 |
DEEHEKJG_00023 |
20842 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
905T>C |
Val302Ala |
M0063400 |
DEEHEKJG_00027 |
23829 |
19 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
408C>T |
Thr136Thr |
M0063401 |
DEEHEKJG_00028 |
24301 |
19 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
242C>T |
Pro81Leu |
M0063402 |
DEEHEKJG_00005 |
5372 |
18 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1232A>G |
Asp411Gly |
M0063403 |
DEEHEKJG_00006 |
6016 |
19 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
288C>T |
Phe96Phe |
M0063404 |
DEEHEKJG_00012 |
10161 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1233G>A |
Ser411Ser |
M0063405 |
DEEHEKJG_00007 |
7045 |
18 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
291C>A |
Ile97Ile |
M0063406 |
DEEHEKJG_00025 |
21958 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
29G>A |
Cys10Tyr |
M0063407 |
DEEHEKJG_00006 |
6620 |
29 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
892T>A |
Ser298Thr |
M0063408 |
DEEHEKJG_00007 |
6793 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
39C>T |
Val13Val |
M0063409 |
DEEHEKJG_00012 |
10249 |
13 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1145C>T |
Thr382Ile |
M0063410 |
DEEHEKJG_00049 |
50383 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2370C>T |
Asp790Asp |
M0063411 |
DEEHEKJG_00049 |
49408 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1395C>T |
Ala465Ala |
M0063412 |
DEEHEKJG_00049 |
49695 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1682T>C |
Val561Ala |
M0063413 |
DEEHEKJG_00049 |
49783 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1770C>T |
Ile590Ile |
M0063414 |
DEEHEKJG_00049 |
49795 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1782G>A |
Ser594Ser |
M0063415 |
DEEHEKJG_00049 |
49801 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1788C>T |
Ile596Ile |
M0063416 |
DEEHEKJG_00049 |
49826 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1813G>A |
Ala605Thr |
M0063417 |
DEEHEKJG_00049 |
49828 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1815C>T |
Ala605Ala |
M0063418 |
DEEHEKJG_00049 |
49856 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1843A>G |
Asn615Asp |
M0063419 |
DEEHEKJG_00050 |
51801 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
663A>G |
Gly221Gly |
M0063420 |
DEEHEKJG_00050 |
51804 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
666C>T |
His222His |
M0063421 |
DEEHEKJG_00050 |
51846 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
708G>T |
Gly236Gly |
M0063422 |
DEEHEKJG_00033 |
28887 |
14 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
112G>A |
Ala38Thr |
M0063423 |
DEEHEKJG_00015 |
12792 |
14 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
433G>A |
Glu145Lys |
M0063424 |
DEEHEKJG_00009 |
8762 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
144C>T |
Thr48Thr |
M0063425 |
DEEHEKJG_00051 |
52686 |
24 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
499A>G |
Ile167Val |
M0063426 |
DEEHEKJG_00049 |
49480 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1467C>A |
Ala489Ala |
M0063427 |
DEEHEKJG_00049 |
49540 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1527T>C |
Tyr509Tyr |
M0063428 |
DEEHEKJG_00049 |
49564 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1551T>C |
His517His |
M0063429 |
DEEHEKJG_00049 |
49574 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1561T>C |
Ser521Pro |
M0063430 |
DEEHEKJG_00049 |
49588 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1575T>C |
Gly525Gly |
M0063431 |
DEEHEKJG_00049 |
49598 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1585C>T |
Leu529Leu |
M0063432 |
DEEHEKJG_00049 |
49914 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1901T>C |
Val634Ala |
M0063433 |
DEEHEKJG_00049 |
49924 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1911C>T |
Ser637Ser |
M0063434 |
DEEHEKJG_00049 |
49925 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1912C>G |
Leu638Val |
M0063435 |
DEEHEKJG_00049 |
49927 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1914A>G |
Leu638Leu |
M0063436 |
DEEHEKJG_00049 |
50002 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1989A>T |
Ala663Ala |
M0063437 |
DEEHEKJG_00049 |
50008 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1995G>C |
Ala665Ala |
M0063438 |
DEEHEKJG_00049 |
50039 |
12 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
2026C>G |
Pro676Ala |
M0063439 |
DEEHEKJG_00050 |
52084 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
946C>T |
Leu316Leu |
M0063440 |
DEEHEKJG_00051 |
52757 |
12 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
570A>G |
Arg190Arg |
M0063441 |
DEEHEKJG_00053 |
56705 |
22 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1059C>A |
None |
M0063442 |
DEEHEKJG_00055 |
56829 |
24 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1248T>C |
Gly416Gly |
M0063443 |
DEEHEKJG_00033 |
29189 |
13 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
414A>G |
Lys138Lys |
M0063444 |
DEEHEKJG_00053 |
54555 |
14 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1092G>A |
Gly364Gly |
M0063445 |
DEEHEKJG_00055 |
56775 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1302G>A |
Gly434Gly |
M0063446 |
DEEHEKJG_00055 |
56778 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1299G>A |
Ala433Ala |
M0063447 |
DEEHEKJG_00055 |
56786 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1291T>C |
Leu431Leu |
M0063448 |
DEEHEKJG_00055 |
56787 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1290A>G |
Gln430Gln |
M0063449 |
DEEHEKJG_00055 |
56790 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1287G>A |
Gly429Gly |
M0063450 |
DEEHEKJG_00055 |
56805 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1272T>C |
Val424Val |
M0063451 |
DEEHEKJG_00055 |
56820 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1257G>A |
Gly419Gly |
M0063452 |
DEEHEKJG_00055 |
56850 |
17 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1227A>G |
Gln409Gln |
M0063453 |
DEEHEKJG_00055 |
56860 |
17 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1217C>T |
Ala406Val |
Analysis of virulence factors contributing to bacterial pathogenicity
This table presents virulence factors identified within the plasmid cluster.
Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.
Gene Name |
vf_gene_id |
vf_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
vf_category |
gene_description |
condition |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
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 |