Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C1961 |
Reference Plasmid |
1111525849736126_bin.1__k141_862085 |
Reference Plasmid Size |
30756 |
Reference Plasmid GC Content |
0.67 |
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 |
M0020908 |
GCAOKGBP_00008 |
10248 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
456C>T |
Pro152Pro |
M0020909 |
GCAOKGBP_00008 |
10380 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
324C>G |
Pro108Pro |
M0020910 |
GCAOKGBP_00008 |
10386 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
318G>C |
Thr106Thr |
M0020911 |
GCAOKGBP_00008 |
10564 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
140A>G |
Gln47Arg |
M0020912 |
GCAOKGBP_00009 |
10748 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
906G>A |
Val302Val |
M0020913 |
GCAOKGBP_00009 |
10749 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
905T>A |
Val302Glu |
M0020914 |
GCAOKGBP_00009 |
10763 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
891C>G |
Ala297Ala |
M0020915 |
GCAOKGBP_00009 |
10786 |
13 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
868T>C |
Cys290Arg |
M0020916 |
GCAOKGBP_00009 |
11559 |
13 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
95G>A |
Gly32Asp |
M0020917 |
GCAOKGBP_00009 |
11614 |
12 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
40T>C |
Ser14Pro |
M0020918 |
GCAOKGBP_00010 |
11766 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1146G>A |
Leu382Leu |
M0020919 |
GCAOKGBP_00010 |
12016 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
896G>A |
Gly299Asp |
M0020920 |
GCAOKGBP_00010 |
12018 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
894G>C |
Thr298Thr |
M0020921 |
GCAOKGBP_00010 |
12081 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
831C>G |
Gly277Gly |
M0020922 |
GCAOKGBP_00010 |
12087 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
825G>A |
Arg275Arg |
M0020923 |
GCAOKGBP_00010 |
12089 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
823A>C |
Arg275Arg |
M0020924 |
GCAOKGBP_00010 |
12090 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
822C>G |
Leu274Leu |
M0020925 |
GCAOKGBP_00010 |
12093 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
819T>C |
Ile273Ile |
M0020926 |
GCAOKGBP_00010 |
12099 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
813C>G |
Leu271Leu |
M0020927 |
GCAOKGBP_00010 |
12165 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
747A>G |
Arg249Arg |
M0020928 |
GCAOKGBP_00010 |
12173 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
739G>A |
Val247Met |
M0020929 |
GCAOKGBP_00010 |
12174 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
738G>C |
Pro246Pro |
M0020930 |
GCAOKGBP_00010 |
12184 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
728G>C |
Gly243Ala |
M0020931 |
GCAOKGBP_00010 |
12185 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
727G>A |
Gly243Ser |
M0020932 |
GCAOKGBP_00010 |
12186 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
726G>C |
Ser242Ser |
M0020933 |
GCAOKGBP_00010 |
12255 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
657C>T |
Ala219Ala |
M0020934 |
GCAOKGBP_00010 |
12324 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
588A>G |
Leu196Leu |
M0020935 |
GCAOKGBP_00010 |
12384 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
528C>T |
Phe176Phe |
M0020936 |
GCAOKGBP_00010 |
12506 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
406C>T |
Leu136Leu |
M0020937 |
GCAOKGBP_00010 |
12549 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
363G>T |
Gly121Gly |
M0020938 |
GCAOKGBP_00010 |
12554 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
358C>T |
Leu120Leu |
M0020939 |
GCAOKGBP_00010 |
12555 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
357G>T |
Leu119Leu |
M0020940 |
GCAOKGBP_00010 |
12557 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
355C>T |
Leu119Leu |
M0020941 |
GCAOKGBP_00010 |
12561 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
351A>G |
Leu117Leu |
M0020942 |
GCAOKGBP_00010 |
12609 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
303T>C |
Val101Val |
M0020943 |
GCAOKGBP_00010 |
12610 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
302T>G |
Val101Gly |
M0020944 |
GCAOKGBP_00010 |
12612 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
300G>C |
Leu100Leu |
M0020945 |
GCAOKGBP_00010 |
12618 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
294C>A |
Ala98Ala |
M0020946 |
GCAOKGBP_00010 |
12663 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
249A>G |
Ala83Ala |
M0020947 |
GCAOKGBP_00010 |
12731 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
181A>G |
Thr61Ala |
M0020948 |
GCAOKGBP_00010 |
12759 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
153G>A |
Leu51Leu |
M0020949 |
GCAOKGBP_00005 |
12919 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4869T>G |
None |
M0020950 |
GCAOKGBP_00011 |
13192 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
702T>C |
Ala234Ala |
M0020951 |
GCAOKGBP_00011 |
13195 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
699C>T |
Gly233Gly |
M0020952 |
GCAOKGBP_00011 |
13252 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
642C>T |
Tyr214Tyr |
M0020953 |
GCAOKGBP_00011 |
13273 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
621C>T |
Gly207Gly |
M0020954 |
GCAOKGBP_00011 |
13282 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
612C>T |
Gly204Gly |
M0020955 |
GCAOKGBP_00011 |
13513 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
381C>T |
Ile127Ile |
M0020956 |
GCAOKGBP_00011 |
13516 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
378C>G |
Val126Val |
M0020957 |
GCAOKGBP_00011 |
13603 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
291A>G |
Pro97Pro |
M0020958 |
GCAOKGBP_00011 |
13606 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
288T>C |
Ser96Ser |
M0020959 |
GCAOKGBP_00011 |
13762 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
132C>T |
Asn44Asn |
M0020960 |
GCAOKGBP_00011 |
13861 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
33G>C |
Ala11Ala |
M0020961 |
GCAOKGBP_00006 |
14036 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4703G>C |
None |
M0020962 |
GCAOKGBP_00006 |
14043 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4710A>G |
None |
M0020963 |
GCAOKGBP_00027 |
29841 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
906C>T |
Asp302Asp |
M0020964 |
GCAOKGBP_00027 |
29844 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
903A>G |
Val301Val |
M0020965 |
GCAOKGBP_00027 |
29849 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
898T>C |
Leu300Leu |
M0020966 |
GCAOKGBP_00027 |
29885 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
862T>C |
Leu288Leu |
M0020967 |
GCAOKGBP_00027 |
29900 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
847T>C |
Leu283Leu |
M0020968 |
GCAOKGBP_00027 |
29919 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
828C>G |
Ser276Ser |
M0020969 |
GCAOKGBP_00027 |
29987 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
760C>A |
Leu254Met |
M0020970 |
GCAOKGBP_00027 |
29988 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
759A>G |
Glu253Glu |
M0020971 |
GCAOKGBP_00018 |
20978 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
847A>G |
Thr283Ala |
M0020972 |
GCAOKGBP_00018 |
21001 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
870G>C |
Ala290Ala |
M0020973 |
GCAOKGBP_00018 |
21010 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
879C>T |
Gly293Gly |
M0020974 |
GCAOKGBP_00018 |
21031 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
900C>T |
Gly300Gly |
M0020975 |
GCAOKGBP_00018 |
21032 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
901A>G |
Met301Val |
M0020976 |
GCAOKGBP_00019 |
21059 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
540C>A |
Ala180Ala |
M0020977 |
GCAOKGBP_00019 |
21101 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
498T>C |
Leu166Leu |
M0020978 |
GCAOKGBP_00019 |
21138 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
461A>G |
Gln154Arg |
M0020979 |
GCAOKGBP_00019 |
21177 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
422G>A |
Gly141Asp |
M0020980 |
GCAOKGBP_00019 |
21259 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
340A>C |
Met114Leu |
M0020981 |
GCAOKGBP_00019 |
21430 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
169C>T |
Leu57Leu |
M0020982 |
GCAOKGBP_00008 |
10302 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
402T>C |
Tyr134Tyr |
M0020983 |
GCAOKGBP_00008 |
10581 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
123G>A |
Pro41Pro |
M0020984 |
GCAOKGBP_00009 |
11363 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
291C>G |
Thr97Thr |
M0020985 |
GCAOKGBP_00009 |
11384 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
270C>T |
Ile90Ile |
M0020986 |
GCAOKGBP_00009 |
11387 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
267A>G |
Gln89Gln |
M0020987 |
GCAOKGBP_00009 |
11408 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
246C>T |
Arg82Arg |
M0020988 |
GCAOKGBP_00009 |
11564 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
90T>C |
Phe30Phe |
M0020989 |
GCAOKGBP_00009 |
11591 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
63T>C |
Tyr21Tyr |
M0020990 |
GCAOKGBP_00010 |
12293 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
619C>A |
Arg207Arg |
M0020991 |
GCAOKGBP_00020 |
22129 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
468G>A |
Pro156Pro |
M0020992 |
GCAOKGBP_00020 |
22132 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
471C>T |
Arg157Arg |
M0020993 |
GCAOKGBP_00020 |
22175 |
10 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
514T>C |
Ser172Pro |
M0020994 |
GCAOKGBP_00020 |
22291 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
630A>G |
Gln210Gln |
M0020995 |
GCAOKGBP_00020 |
22408 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
747A>G |
Arg249Arg |
M0020996 |
GCAOKGBP_00020 |
22414 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
753C>T |
Phe251Phe |
M0020997 |
GCAOKGBP_00020 |
22417 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
756C>G |
Thr252Thr |
M0020998 |
GCAOKGBP_00020 |
22447 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
786A>G |
Lys262Lys |
M0020999 |
GCAOKGBP_00020 |
22540 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
879T>C |
Val293Val |
M0021000 |
GCAOKGBP_00020 |
22549 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
888C>T |
Ile296Ile |
M0021001 |
GCAOKGBP_00014 |
22690 |
8 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3891T>G |
None |
M0021002 |
GCAOKGBP_00021 |
22749 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
741G>T |
Val247Val |
M0021003 |
GCAOKGBP_00021 |
22818 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
672C>G |
Ala224Ala |
M0021004 |
GCAOKGBP_00021 |
22833 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
657C>G |
Pro219Pro |
M0021005 |
GCAOKGBP_00021 |
22896 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
594G>A |
Leu198Leu |
M0021006 |
GCAOKGBP_00021 |
22899 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
591A>G |
Ser197Ser |
M0021007 |
GCAOKGBP_00021 |
23340 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
150T>C |
Arg50Arg |
M0021008 |
GCAOKGBP_00022 |
23599 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
630C>G |
Ala210Ala |
M0021009 |
GCAOKGBP_00022 |
23698 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
531A>G |
Gln177Gln |
M0021010 |
GCAOKGBP_00019 |
24371 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2773C>T |
None |
M0021011 |
GCAOKGBP_00019 |
24381 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2783T>C |
None |
M0021012 |
GCAOKGBP_00023 |
24397 |
6 |
Skin |
0.07 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
468A>G |
Ter156Ter |
M0021013 |
GCAOKGBP_00023 |
24522 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
343T>C |
Leu115Leu |
M0021014 |
GCAOKGBP_00023 |
24733 |
13 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
132A>G |
Leu44Leu |
M0021015 |
GCAOKGBP_00024 |
25515 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
375C>G |
Pro125Pro |
M0021016 |
GCAOKGBP_00024 |
25518 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
372T>C |
Ile124Ile |
M0021017 |
GCAOKGBP_00024 |
25523 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
367G>A |
Ala123Thr |
M0021018 |
GCAOKGBP_00024 |
25529 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
361A>G |
Thr121Ala |
M0021019 |
GCAOKGBP_00024 |
25530 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
360T>G |
Ala120Ala |
M0021020 |
GCAOKGBP_00024 |
25533 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
357C>T |
Ser119Ser |
M0021021 |
GCAOKGBP_00024 |
25539 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
351T>C |
Val117Val |
M0021022 |
GCAOKGBP_00024 |
25665 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
225C>G |
Leu75Leu |
M0021023 |
GCAOKGBP_00025 |
26532 |
14 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
603T>C |
His201His |
M0021024 |
GCAOKGBP_00025 |
26577 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
648A>G |
Ala216Ala |
M0021025 |
GCAOKGBP_00025 |
26742 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
813T>C |
Gly271Gly |
M0021026 |
GCAOKGBP_00025 |
26848 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
919T>C |
Leu307Leu |
M0021027 |
GCAOKGBP_00025 |
27153 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1224G>T |
Leu408Leu |
M0021028 |
GCAOKGBP_00025 |
27156 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1227T>C |
Ser409Ser |
M0021029 |
GCAOKGBP_00001 |
201 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
714C>G |
Val238Val |
M0021030 |
GCAOKGBP_00001 |
216 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
699T>C |
Asp233Asp |
M0021031 |
GCAOKGBP_00001 |
219 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
696G>C |
Gly232Gly |
M0021032 |
GCAOKGBP_00001 |
225 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
690C>G |
Ala230Ala |
M0021033 |
GCAOKGBP_00001 |
281 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
634G>A |
Val212Ile |
M0021034 |
GCAOKGBP_00001 |
290 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
625C>A |
His209Asn |
M0021035 |
GCAOKGBP_00001 |
299 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
616G>C |
Gly206Arg |
M0021036 |
GCAOKGBP_00001 |
321 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
594G>C |
Ala198Ala |
M0021037 |
GCAOKGBP_00001 |
372 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
543C>T |
Cys181Cys |
M0021038 |
GCAOKGBP_00001 |
389 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
526G>C |
Val176Leu |
M0021039 |
GCAOKGBP_00001 |
459 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
456G>A |
Glu152Glu |
M0021040 |
GCAOKGBP_00001 |
468 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
447C>G |
Val149Val |
M0021041 |
GCAOKGBP_00001 |
477 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
438G>T |
Leu146Leu |
M0021042 |
GCAOKGBP_00001 |
483 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
432C>T |
Cys144Cys |
M0021043 |
GCAOKGBP_00001 |
513 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
402A>C |
Ile134Ile |
M0021044 |
GCAOKGBP_00001 |
515 |
19 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
400A>C |
Ile134Leu |
M0021045 |
GCAOKGBP_00001 |
531 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
384T>C |
Arg128Arg |
M0021046 |
GCAOKGBP_00001 |
639 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
276C>A |
Ala92Ala |
M0021047 |
GCAOKGBP_00001 |
642 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
273G>C |
Ala91Ala |
M0021048 |
GCAOKGBP_00001 |
645 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
270G>C |
Arg90Arg |
M0021049 |
GCAOKGBP_00001 |
648 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
267G>C |
Ala89Ala |
M0021050 |
GCAOKGBP_00001 |
654 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
261G>A |
Arg87Arg |
M0021051 |
GCAOKGBP_00001 |
655 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
260G>A |
Arg87Gln |
M0021052 |
GCAOKGBP_00001 |
666 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
249C>A |
Gly83Gly |
M0021053 |
GCAOKGBP_00001 |
667 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
248G>C |
Gly83Ala |
M0021054 |
GCAOKGBP_00001 |
671 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
244A>C |
Ser82Arg |
M0021055 |
GCAOKGBP_00001 |
678 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
237A>G |
Gln79Gln |
M0021056 |
GCAOKGBP_00001 |
681 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
234G>A |
Glu78Glu |
M0021057 |
GCAOKGBP_00001 |
792 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
123G>C |
Arg41Arg |
M0021058 |
GCAOKGBP_00001 |
795 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
120C>G |
Arg40Arg |
M0021059 |
GCAOKGBP_00001 |
798 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
117G>C |
Thr39Thr |
M0021060 |
GCAOKGBP_00001 |
801 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
114C>G |
Thr38Thr |
M0021061 |
GCAOKGBP_00001 |
807 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
108C>T |
Ser36Ser |
M0021062 |
GCAOKGBP_00001 |
816 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
99C>G |
Gly33Gly |
M0021063 |
GCAOKGBP_00001 |
918 |
11 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4G>T |
None |
M0021064 |
GCAOKGBP_00001 |
919 |
11 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-5C>G |
None |
M0021065 |
GCAOKGBP_00001 |
921 |
11 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-7G>C |
None |
M0021066 |
GCAOKGBP_00001 |
922 |
14 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-8A>G |
None |
M0021067 |
GCAOKGBP_00001 |
926 |
11 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-12A>G |
None |
M0021068 |
GCAOKGBP_00001 |
935 |
17 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-21A>T |
None |
M0021069 |
GCAOKGBP_00002 |
1292 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
66C>T |
Leu22Leu |
M0021070 |
GCAOKGBP_00002 |
1733 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
507C>T |
Pro169Pro |
M0021071 |
GCAOKGBP_00002 |
1784 |
24 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
558G>A |
Lys186Lys |
M0021072 |
GCAOKGBP_00002 |
1793 |
24 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
567G>C |
Ala189Ala |
M0021073 |
GCAOKGBP_00002 |
1796 |
24 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
570G>A |
Lys190Lys |
M0021074 |
GCAOKGBP_00002 |
1800 |
24 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
574A>C |
Arg192Arg |
M0021075 |
GCAOKGBP_00002 |
1802 |
24 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
576G>C |
Arg192Ser |
M0021076 |
GCAOKGBP_00002 |
1823 |
14 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
597T>C |
Gly199Gly |
M0021077 |
GCAOKGBP_00002 |
1832 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
606C>T |
Gly202Gly |
M0021078 |
GCAOKGBP_00002 |
1859 |
14 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
633C>G |
Leu211Leu |
M0021079 |
GCAOKGBP_00002 |
1862 |
14 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
636C>T |
Ser212Ser |
M0021080 |
GCAOKGBP_00002 |
1876 |
13 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
650A>G |
Lys217Arg |
M0021081 |
GCAOKGBP_00002 |
1877 |
13 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
651A>G |
Lys217Lys |
M0021082 |
GCAOKGBP_00002 |
1880 |
13 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
654C>G |
Gly218Gly |
M0021083 |
GCAOKGBP_00002 |
2024 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
798C>T |
Ser266Ser |
M0021084 |
GCAOKGBP_00002 |
2030 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
804G>C |
Ala268Ala |
M0021085 |
GCAOKGBP_00002 |
2048 |
13 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
822A>G |
Val274Val |
M0021086 |
GCAOKGBP_00002 |
2072 |
13 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
846T>G |
Ile282Met |
M0021087 |
GCAOKGBP_00002 |
2093 |
13 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
867A>G |
Ala289Ala |
M0021088 |
GCAOKGBP_00002 |
2132 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
906T>C |
Pro302Pro |
M0021089 |
GCAOKGBP_00002 |
2167 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
941A>G |
Lys314Arg |
M0021090 |
GCAOKGBP_00002 |
2231 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1005G>A |
Lys335Lys |
M0021091 |
GCAOKGBP_00002 |
2255 |
23 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1029A>C |
Arg343Arg |
M0021092 |
GCAOKGBP_00002 |
2288 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1062T>C |
Asp354Asp |
M0021093 |
GCAOKGBP_00002 |
2294 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1068A>G |
Val356Val |
M0021094 |
GCAOKGBP_00002 |
2296 |
20 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1070C>G |
Ala357Gly |
M0021095 |
GCAOKGBP_00002 |
2303 |
20 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1077G>T |
Met359Ile |
M0021096 |
GCAOKGBP_00002 |
2312 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1086A>G |
Gly362Gly |
M0021097 |
GCAOKGBP_00002 |
2388 |
14 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1162T>C |
Leu388Leu |
M0021098 |
GCAOKGBP_00002 |
2444 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1218C>G |
Leu406Leu |
M0021099 |
GCAOKGBP_00002 |
2462 |
20 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1236G>C |
Glu412Asp |
M0021100 |
GCAOKGBP_00002 |
2465 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1239C>T |
Ser413Ser |
M0021101 |
GCAOKGBP_00002 |
2477 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1251C>T |
Gly417Gly |
M0021102 |
GCAOKGBP_00002 |
2570 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1344T>C |
Gly448Gly |
M0021103 |
GCAOKGBP_00002 |
2573 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1347G>A |
Gly449Gly |
M0021104 |
GCAOKGBP_00002 |
2612 |
14 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1386C>G |
Gly462Gly |
M0021105 |
GCAOKGBP_00002 |
2738 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1512C>T |
Arg504Arg |
M0021106 |
GCAOKGBP_00002 |
2957 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1731A>G |
Gln577Gln |
M0021107 |
GCAOKGBP_00002 |
3242 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2016C>T |
Asp672Asp |
M0021108 |
GCAOKGBP_00002 |
3293 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2067C>T |
Ile689Ile |
M0021109 |
GCAOKGBP_00002 |
3455 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
2229C>G |
Leu743Leu |
M0021110 |
GCAOKGBP_00002 |
3479 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
2253G>C |
Ala751Ala |
M0021111 |
GCAOKGBP_00002 |
3518 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
2292G>A |
Ala764Ala |
M0021112 |
GCAOKGBP_00002 |
3540 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2314C>T |
Leu772Leu |
M0021113 |
GCAOKGBP_00002 |
3551 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2325G>A |
Ala775Ala |
M0021114 |
GCAOKGBP_00002 |
3554 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2328C>T |
Gly776Gly |
M0021115 |
GCAOKGBP_00002 |
3617 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2391C>T |
Arg797Arg |
M0021116 |
GCAOKGBP_00002 |
3647 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
2421G>C |
Leu807Leu |
M0021117 |
GCAOKGBP_00002 |
3650 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
2424C>G |
Ala808Ala |
M0021118 |
GCAOKGBP_00002 |
3698 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
2472A>G |
Val824Val |
M0021119 |
GCAOKGBP_00003 |
4007 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
299A>G |
Lys100Arg |
M0021120 |
GCAOKGBP_00003 |
4059 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
351G>T |
Ala117Ala |
M0021121 |
GCAOKGBP_00003 |
4060 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
352G>C |
Val118Leu |
M0021122 |
GCAOKGBP_00003 |
4064 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
356G>A |
Arg119His |
M0021123 |
GCAOKGBP_00003 |
4066 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
358G>C |
Glu120Gln |
M0021124 |
GCAOKGBP_00003 |
4072 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
364C>A |
His122Asn |
M0021125 |
GCAOKGBP_00003 |
4077 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
369C>T |
Ala123Ala |
M0021126 |
GCAOKGBP_00003 |
4080 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
372G>C |
Arg124Arg |
M0021127 |
GCAOKGBP_00003 |
4086 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
378C>T |
Asp126Asp |
M0021128 |
GCAOKGBP_00003 |
4088 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
380C>A |
Ala127Asp |
M0021129 |
GCAOKGBP_00003 |
4092 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
384G>C |
Leu128Leu |
M0021130 |
GCAOKGBP_00003 |
4093 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
385A>G |
Thr129Ala |
M0021131 |
GCAOKGBP_00003 |
4215 |
13 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
507C>T |
Ser169Ser |
M0021132 |
GCAOKGBP_00003 |
4245 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
537T>G |
Ala179Ala |
M0021133 |
GCAOKGBP_00003 |
4247 |
12 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
539A>G |
Glu180Gly |
M0021134 |
GCAOKGBP_00003 |
4248 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
540A>G |
Glu180Glu |
M0021135 |
GCAOKGBP_00003 |
4251 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
543C>G |
Val181Val |
M0021136 |
GCAOKGBP_00003 |
4293 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
585G>T |
Ala195Ala |
M0021137 |
GCAOKGBP_00003 |
4585 |
16 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
877C>G |
Arg293Gly |
M0021138 |
GCAOKGBP_00003 |
4588 |
16 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
880C>T |
Pro294Ser |
M0021139 |
GCAOKGBP_00003 |
4592 |
16 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
884T>C |
Phe295Ser |
M0021140 |
GCAOKGBP_00001 |
4713 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3799T>C |
None |
M0021141 |
GCAOKGBP_00004 |
4881 |
16 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
113G>A |
Gly38Glu |
M0021142 |
GCAOKGBP_00004 |
4890 |
16 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
122A>G |
Asp41Gly |
M0021143 |
GCAOKGBP_00004 |
4941 |
13 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
173C>A |
Ala58Asp |
M0021144 |
GCAOKGBP_00004 |
4957 |
13 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
189G>A |
Ala63Ala |
M0021145 |
GCAOKGBP_00001 |
381 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
534C>T |
Phe178Phe |
M0021146 |
GCAOKGBP_00001 |
474 |
14 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
441C>T |
Tyr147Tyr |
M0021147 |
GCAOKGBP_00001 |
843 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
72G>T |
Arg24Arg |
M0021148 |
GCAOKGBP_00001 |
1084 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-170A>G |
None |
M0021149 |
GCAOKGBP_00001 |
1087 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-173G>A |
None |
M0021150 |
GCAOKGBP_00001 |
1096 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-182C>A |
None |
M0021151 |
GCAOKGBP_00002 |
1376 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
150G>C |
Ala50Ala |
M0021152 |
GCAOKGBP_00002 |
1385 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
159T>C |
Tyr53Tyr |
M0021153 |
GCAOKGBP_00002 |
1577 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
351C>T |
Arg117Arg |
M0021154 |
GCAOKGBP_00002 |
1580 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
354A>G |
Val118Val |
M0021155 |
GCAOKGBP_00002 |
1581 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
355C>T |
Leu119Leu |
M0021156 |
GCAOKGBP_00002 |
1589 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
363C>T |
Asp121Asp |
M0021157 |
GCAOKGBP_00002 |
1691 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
465C>G |
Ser155Ser |
M0021158 |
GCAOKGBP_00002 |
1694 |
23 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
468T>C |
Gly156Gly |
M0021159 |
GCAOKGBP_00002 |
1703 |
23 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
477C>G |
Pro159Pro |
M0021160 |
GCAOKGBP_00002 |
1730 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
504C>T |
Asn168Asn |
M0021161 |
GCAOKGBP_00003 |
3969 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
261G>A |
Gly87Gly |
M0021162 |
GCAOKGBP_00003 |
3984 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
276C>T |
Gly92Gly |
M0021163 |
GCAOKGBP_00003 |
3987 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
279G>C |
Val93Val |
M0021164 |
GCAOKGBP_00003 |
4014 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
306G>A |
Glu102Glu |
M0021165 |
GCAOKGBP_00003 |
4087 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
379G>A |
Ala127Thr |
M0021166 |
GCAOKGBP_00003 |
4171 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
463G>A |
Ala155Thr |
M0021167 |
GCAOKGBP_00003 |
4173 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
465C>T |
Ala155Ala |
M0021168 |
GCAOKGBP_00003 |
4375 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
667C>T |
Arg223Cys |
M0021169 |
GCAOKGBP_00004 |
5053 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Ala95Ala |
M0021170 |
GCAOKGBP_00004 |
5078 |
10 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
310A>G |
Ser104Gly |
M0021171 |
GCAOKGBP_00004 |
5111 |
10 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
343C>A |
Pro115Thr |
M0021172 |
GCAOKGBP_00004 |
5257 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
489G>A |
Leu163Leu |
M0021173 |
GCAOKGBP_00004 |
5749 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
981A>G |
Ala327Ala |
M0021174 |
GCAOKGBP_00004 |
5845 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1077C>T |
Ala359Ala |
M0021175 |
GCAOKGBP_00004 |
5860 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1092C>T |
Ser364Ser |
M0021176 |
GCAOKGBP_00004 |
5866 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1098C>T |
Phe366Phe |
M0021177 |
GCAOKGBP_00004 |
5890 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1122C>T |
Phe374Phe |
M0021178 |
GCAOKGBP_00004 |
5924 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1156T>G |
Ser386Ala |
M0021179 |
GCAOKGBP_00004 |
6008 |
20 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1240G>A |
Val414Met |
M0021180 |
GCAOKGBP_00004 |
6065 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1297C>T |
Leu433Leu |
M0021181 |
GCAOKGBP_00004 |
6067 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1299A>G |
Leu433Leu |
M0021182 |
GCAOKGBP_00004 |
6106 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1338G>A |
Ala446Ala |
M0021183 |
GCAOKGBP_00004 |
6286 |
13 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1518T>C |
Thr506Thr |
M0021184 |
GCAOKGBP_00004 |
6304 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1536C>G |
Ala512Ala |
M0021185 |
GCAOKGBP_00004 |
6307 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1539C>T |
Gly513Gly |
M0021186 |
GCAOKGBP_00004 |
6319 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1551C>T |
Gly517Gly |
M0021187 |
GCAOKGBP_00004 |
6358 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1590T>C |
Pro530Pro |
M0021188 |
GCAOKGBP_00004 |
6553 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1785A>G |
Thr595Thr |
M0021189 |
GCAOKGBP_00005 |
6986 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1065C>T |
Pro355Pro |
M0021190 |
GCAOKGBP_00005 |
7148 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
903T>C |
Tyr301Tyr |
M0021191 |
GCAOKGBP_00005 |
7151 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
900C>T |
Asp300Asp |
M0021192 |
GCAOKGBP_00005 |
7268 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
783T>C |
Gly261Gly |
M0021193 |
GCAOKGBP_00005 |
7271 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
780C>G |
Leu260Leu |
M0021194 |
GCAOKGBP_00005 |
7277 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
774C>G |
Val258Val |
M0021195 |
GCAOKGBP_00005 |
7283 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
768A>C |
Glu256Asp |
M0021196 |
GCAOKGBP_00005 |
7334 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
717G>A |
Glu239Glu |
M0021197 |
GCAOKGBP_00005 |
7340 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
711A>G |
Val237Val |
M0021198 |
GCAOKGBP_00005 |
7343 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
708G>T |
Arg236Arg |
M0021199 |
GCAOKGBP_00005 |
7346 |
12 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
705A>G |
Lys235Lys |
M0021200 |
GCAOKGBP_00005 |
7521 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
530G>A |
Arg177Lys |
M0021201 |
GCAOKGBP_00005 |
7640 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
411T>C |
Ile137Ile |
M0021202 |
GCAOKGBP_00005 |
7658 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
393A>G |
Gly131Gly |
M0021203 |
GCAOKGBP_00005 |
7664 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
387C>G |
Ala129Ala |
M0021204 |
GCAOKGBP_00005 |
7669 |
11 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
382A>G |
Met128Val |
M0021205 |
GCAOKGBP_00005 |
7670 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
381C>G |
Val127Val |
M0021206 |
GCAOKGBP_00005 |
7672 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
379G>C |
Val127Leu |
M0021207 |
GCAOKGBP_00005 |
7676 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
375G>A |
Gly125Gly |
M0021208 |
GCAOKGBP_00005 |
7682 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
369C>T |
Ala123Ala |
M0021209 |
GCAOKGBP_00005 |
7700 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
351G>C |
Gly117Gly |
M0021210 |
GCAOKGBP_00005 |
7715 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
336G>C |
Gly112Gly |
M0021211 |
GCAOKGBP_00005 |
7718 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
333C>G |
Gly111Gly |
M0021212 |
GCAOKGBP_00005 |
7721 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
330G>C |
Ala110Ala |
M0021213 |
GCAOKGBP_00005 |
7781 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
270G>A |
Leu90Leu |
M0021214 |
GCAOKGBP_00005 |
7805 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
246T>C |
Asn82Asn |
M0021215 |
GCAOKGBP_00005 |
7817 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Tyr78Tyr |
M0021216 |
GCAOKGBP_00005 |
7828 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
223G>A |
Val75Ile |
M0021217 |
GCAOKGBP_00005 |
7829 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
222G>C |
Ala74Ala |
M0021218 |
GCAOKGBP_00005 |
7842 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
209G>A |
Arg70Lys |
M0021219 |
GCAOKGBP_00005 |
7859 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
192G>A |
Arg64Arg |
M0021220 |
GCAOKGBP_00005 |
7860 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
191G>A |
Arg64Lys |
M0021221 |
GCAOKGBP_00005 |
7868 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
183C>G |
Gly61Gly |
M0021222 |
GCAOKGBP_00005 |
7871 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
180G>C |
Met60Ile |
M0021223 |
GCAOKGBP_00005 |
7877 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
174A>G |
Ala58Ala |
M0021224 |
GCAOKGBP_00005 |
7880 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
171G>A |
Glu57Glu |
M0021225 |
GCAOKGBP_00005 |
7883 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
168C>T |
Gly56Gly |
M0021226 |
GCAOKGBP_00006 |
8051 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1283C>A |
Ala428Glu |
M0021227 |
GCAOKGBP_00006 |
8054 |
14 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1280A>G |
Glu427Gly |
M0021228 |
GCAOKGBP_00006 |
8259 |
13 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1075A>G |
Thr359Ala |
M0021229 |
GCAOKGBP_00006 |
8331 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1003C>G |
Gln335Glu |
M0021230 |
GCAOKGBP_00006 |
9010 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
324T>C |
Asn108Asn |
M0021231 |
GCAOKGBP_00006 |
9211 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
123T>C |
Gly41Gly |
M0021232 |
GCAOKGBP_00006 |
9226 |
13 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
108G>C |
Arg36Arg |
M0021233 |
GCAOKGBP_00005 |
9350 |
16 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1300T>G |
None |
M0021234 |
GCAOKGBP_00007 |
9602 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
144C>T |
Thr48Thr |
M0021235 |
GCAOKGBP_00007 |
9623 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
123C>G |
Pro41Pro |
M0021236 |
GCAOKGBP_00020 |
21706 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
45T>C |
Ala15Ala |
M0021237 |
GCAOKGBP_00020 |
21714 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
53T>C |
Val18Ala |
M0021238 |
GCAOKGBP_00020 |
21715 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
54G>A |
Val18Val |
M0021239 |
GCAOKGBP_00020 |
21737 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
76G>A |
Ala26Thr |
M0021240 |
GCAOKGBP_00020 |
21751 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
90T>G |
Ala30Ala |
M0021241 |
GCAOKGBP_00020 |
21758 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
97A>G |
Thr33Ala |
M0021242 |
GCAOKGBP_00020 |
21814 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
153G>A |
Leu51Leu |
M0021243 |
GCAOKGBP_00020 |
21819 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
158G>A |
Gly53Glu |
M0021244 |
GCAOKGBP_00020 |
21820 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
159A>C |
Gly53Gly |
M0021245 |
GCAOKGBP_00020 |
21823 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
162C>T |
Phe54Phe |
M0021246 |
GCAOKGBP_00021 |
23132 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
358C>G |
Leu120Val |
M0021247 |
GCAOKGBP_00021 |
23169 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
321T>C |
Thr107Thr |
M0021248 |
GCAOKGBP_00021 |
23181 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
309A>G |
Ala103Ala |
M0021249 |
GCAOKGBP_00021 |
23331 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
159A>G |
Ala53Ala |
M0021250 |
GCAOKGBP_00003 |
3783 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
75C>T |
Asn25Asn |
M0021251 |
GCAOKGBP_00003 |
3784 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
76A>G |
Thr26Ala |
M0021252 |
GCAOKGBP_00003 |
4237 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
529C>T |
Leu177Leu |
M0021253 |
GCAOKGBP_00001 |
4659 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3745G>T |
None |
M0021254 |
GCAOKGBP_00001 |
4662 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3748C>T |
None |
M0021255 |
GCAOKGBP_00004 |
5536 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
768G>A |
Lys256Lys |
M0021256 |
GCAOKGBP_00005 |
7739 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Leu104Leu |
M0021257 |
GCAOKGBP_00005 |
7760 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
291A>G |
Glu97Glu |
M0021258 |
GCAOKGBP_00005 |
7766 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
285C>A |
Asp95Glu |
M0021259 |
GCAOKGBP_00005 |
7773 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
278G>A |
Gly93Glu |
M0021260 |
GCAOKGBP_00023 |
24480 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
385T>C |
Tyr129His |
M0021261 |
GCAOKGBP_00023 |
24709 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
156C>G |
Ala52Ala |
M0021262 |
GCAOKGBP_00024 |
25005 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
885C>G |
Ala295Ala |
M0021263 |
GCAOKGBP_00024 |
25557 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
333T>C |
Ala111Ala |
M0021264 |
GCAOKGBP_00025 |
26598 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
669G>A |
Arg223Arg |
M0021265 |
GCAOKGBP_00025 |
26607 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
678C>T |
Ser226Ser |
M0021266 |
GCAOKGBP_00025 |
26853 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
924C>G |
Gly308Gly |
M0021267 |
GCAOKGBP_00025 |
26897 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
968A>G |
His323Arg |
M0021268 |
GCAOKGBP_00025 |
26904 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
975G>C |
Gly325Gly |
M0021269 |
GCAOKGBP_00025 |
27072 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1143A>G |
Glu381Glu |
M0021270 |
GCAOKGBP_00025 |
27075 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1146C>T |
Arg382Arg |
M0021271 |
GCAOKGBP_00025 |
27093 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1164G>C |
Leu388Leu |
M0021272 |
GCAOKGBP_00025 |
27468 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1539T>G |
Pro513Pro |
M0021273 |
GCAOKGBP_00004 |
6287 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1519C>G |
Pro507Ala |
M0021274 |
GCAOKGBP_00005 |
7124 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
927C>G |
Pro309Pro |
M0021275 |
GCAOKGBP_00005 |
7127 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
924C>T |
Ile308Ile |
M0021276 |
GCAOKGBP_00005 |
7130 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
921A>G |
Lys307Lys |
M0021277 |
GCAOKGBP_00005 |
7192 |
10 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
859C>T |
Leu287Leu |
M0021278 |
GCAOKGBP_00005 |
7196 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
855C>A |
Gly285Gly |
M0021279 |
GCAOKGBP_00006 |
8113 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1221G>T |
Gly407Gly |
M0021280 |
GCAOKGBP_00006 |
8130 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1204A>C |
Ser402Arg |
M0021281 |
GCAOKGBP_00006 |
8131 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1203C>G |
Arg401Arg |
M0021282 |
GCAOKGBP_00006 |
8136 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1198G>C |
Glu400Gln |
M0021283 |
GCAOKGBP_00006 |
8139 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1195C>T |
Leu399Leu |
M0021284 |
GCAOKGBP_00006 |
8140 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1194A>G |
Glu398Glu |
M0021285 |
GCAOKGBP_00006 |
8143 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1191C>T |
His397His |
M0021286 |
GCAOKGBP_00006 |
8146 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1188C>G |
Thr396Thr |
M0021287 |
GCAOKGBP_00006 |
8191 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1143A>G |
Gly381Gly |
M0021288 |
GCAOKGBP_00006 |
9233 |
11 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
101G>A |
Ser34Asn |
M0021289 |
GCAOKGBP_00007 |
9611 |
11 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
135A>C |
Gly45Gly |
M0021290 |
GCAOKGBP_00009 |
10930 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
724T>C |
Leu242Leu |
M0021291 |
GCAOKGBP_00001 |
135 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
780T>C |
Ala260Ala |
M0021292 |
GCAOKGBP_00001 |
988 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-74G>T |
None |
M0021293 |
GCAOKGBP_00001 |
991 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-77T>C |
None |
M0021294 |
GCAOKGBP_00001 |
993 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-79C>T |
None |
M0021295 |
GCAOKGBP_00001 |
996 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-82T>C |
None |
M0021296 |
GCAOKGBP_00001 |
1009 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-95C>T |
None |
M0021297 |
GCAOKGBP_00001 |
1039 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-125C>T |
None |
M0021298 |
GCAOKGBP_00001 |
1060 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-146C>T |
None |
M0021299 |
GCAOKGBP_00001 |
1061 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-147A>G |
None |
M0021300 |
GCAOKGBP_00001 |
1075 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-161A>G |
None |
M0021301 |
GCAOKGBP_00002 |
1352 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
126A>C |
Gly42Gly |
M0021302 |
GCAOKGBP_00002 |
1678 |
10 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
452C>T |
Ala151Val |
M0021303 |
GCAOKGBP_00002 |
1683 |
10 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
457G>A |
Ala153Thr |
M0021304 |
GCAOKGBP_00002 |
1686 |
10 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
460A>G |
Thr154Ala |
M0021305 |
GCAOKGBP_00002 |
1692 |
13 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
466G>A |
Gly156Ser |
M0021306 |
GCAOKGBP_00002 |
1704 |
14 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
478C>T |
His160Tyr |
M0021307 |
GCAOKGBP_00002 |
1707 |
14 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
481A>G |
Thr161Ala |
M0021308 |
GCAOKGBP_00002 |
2597 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1371C>T |
Ile457Ile |
M0021309 |
GCAOKGBP_00002 |
3396 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2170A>C |
Arg724Arg |
M0021310 |
GCAOKGBP_00002 |
3398 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2172A>C |
Arg724Ser |
M0021311 |
GCAOKGBP_00002 |
3407 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2181C>G |
Pro727Pro |
M0021312 |
GCAOKGBP_00002 |
3413 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2187C>G |
Leu729Leu |
M0021313 |
GCAOKGBP_00002 |
1677 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
451G>A |
Ala151Thr |
M0021314 |
GCAOKGBP_00002 |
1681 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
455G>T |
Gly152Val |
M0021315 |
GCAOKGBP_00002 |
2525 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1299C>T |
Ala433Ala |
M0021316 |
GCAOKGBP_00027 |
30126 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
621A>G |
Val207Val |
M0021317 |
GCAOKGBP_00027 |
30201 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
546A>C |
Gly182Gly |
M0021318 |
GCAOKGBP_00027 |
29624 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1123A>G |
Thr375Ala |
M0021319 |
GCAOKGBP_00027 |
29677 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1070A>G |
Asp357Gly |
M0021320 |
GCAOKGBP_00027 |
29679 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1068C>G |
Ser356Arg |
M0021321 |
GCAOKGBP_00027 |
29680 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1067G>A |
Ser356Asn |
M0021322 |
GCAOKGBP_00027 |
29681 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1066A>G |
Ser356Gly |
M0021323 |
GCAOKGBP_00027 |
29685 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1062C>A |
Gly354Gly |
M0021324 |
GCAOKGBP_00027 |
29694 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1053T>C |
Tyr351Tyr |
M0021325 |
GCAOKGBP_00027 |
29696 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1051T>C |
Tyr351His |
M0021326 |
GCAOKGBP_00027 |
29697 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1050G>C |
Ala350Ala |
M0021327 |
GCAOKGBP_00027 |
29700 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1047G>C |
Ala349Ala |
M0021328 |
GCAOKGBP_00027 |
29748 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
999G>C |
Leu333Leu |
M0021329 |
GCAOKGBP_00027 |
29756 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
991A>G |
Ile331Val |
M0021330 |
GCAOKGBP_00027 |
29759 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
988T>G |
Ser330Ala |
M0021331 |
GCAOKGBP_00027 |
29760 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
987C>G |
Leu329Leu |
M0021332 |
GCAOKGBP_00027 |
29829 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
918C>T |
Ile306Ile |
M0021333 |
GCAOKGBP_00027 |
29832 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
915C>G |
Ala305Ala |
M0021334 |
GCAOKGBP_00027 |
29850 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
897C>T |
Ala299Ala |
M0021335 |
GCAOKGBP_00027 |
29994 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
753C>T |
Ala251Ala |
M0021336 |
GCAOKGBP_00027 |
30033 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
714C>T |
His238His |
M0021337 |
GCAOKGBP_00027 |
30159 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
588G>T |
Pro196Pro |
M0021338 |
GCAOKGBP_00027 |
30184 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
563G>A |
Arg188Gln |
M0021339 |
GCAOKGBP_00027 |
30186 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
561G>T |
Val187Val |
M0021340 |
GCAOKGBP_00027 |
30204 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
543G>A |
Gln181Gln |
M0021341 |
GCAOKGBP_00027 |
30206 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
541C>G |
Gln181Glu |
M0021342 |
GCAOKGBP_00027 |
30207 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
540A>G |
Glu180Glu |
M0021343 |
GCAOKGBP_00007 |
9514 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
232C>A |
Arg78Arg |
M0021344 |
GCAOKGBP_00007 |
9518 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
228C>T |
Arg76Arg |
M0021345 |
GCAOKGBP_00008 |
10527 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
177G>A |
Leu59Leu |
M0021346 |
GCAOKGBP_00008 |
10529 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
175T>C |
Leu59Leu |
M0021347 |
GCAOKGBP_00008 |
10536 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
168C>G |
Leu56Leu |
M0021348 |
GCAOKGBP_00008 |
10539 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
165T>G |
Pro55Pro |
M0021349 |
GCAOKGBP_00008 |
10617 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
87G>A |
Gly29Gly |
M0021350 |
GCAOKGBP_00002 |
1481 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
255A>G |
Val85Val |
M0021351 |
GCAOKGBP_00002 |
1482 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
256A>G |
Asn86Asp |
M0021352 |
GCAOKGBP_00002 |
1484 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Asn86Asn |
M0021353 |
GCAOKGBP_00002 |
1490 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
264T>C |
Gly88Gly |
M0021354 |
GCAOKGBP_00002 |
1844 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
618G>A |
Lys206Lys |
M0021355 |
GCAOKGBP_00002 |
1845 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
619T>C |
Leu207Leu |
M0021356 |
GCAOKGBP_00002 |
1868 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
642G>C |
Gly214Gly |
M0021357 |
GCAOKGBP_00002 |
3143 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1917C>G |
Arg639Arg |
M0021358 |
GCAOKGBP_00002 |
3572 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2346A>G |
Leu782Leu |
M0021359 |
GCAOKGBP_00002 |
3581 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2355T>C |
Ser785Ser |
M0021360 |
GCAOKGBP_00002 |
3664 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
2438G>A |
Gly813Glu |
M0021361 |
GCAOKGBP_00002 |
3668 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
2442A>G |
Gln814Gln |
M0021362 |
GCAOKGBP_00002 |
2739 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1513G>A |
Ala505Thr |
M0021363 |
GCAOKGBP_00003 |
4128 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
420C>T |
Ser140Ser |
M0021364 |
GCAOKGBP_00003 |
4129 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
421T>C |
Leu141Leu |
M0021365 |
GCAOKGBP_00003 |
4176 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
468G>A |
Arg156Arg |
M0021366 |
GCAOKGBP_00003 |
4194 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
486G>A |
Lys162Lys |
M0021367 |
GCAOKGBP_00004 |
5593 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
825G>T |
Ser275Ser |
M0021368 |
GCAOKGBP_00006 |
9207 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
127G>C |
Val43Leu |
M0021369 |
GCAOKGBP_00008 |
10371 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
333A>G |
Ala111Ala |
M0021370 |
GCAOKGBP_00004 |
5045 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
277C>T |
Leu93Leu |
M0021371 |
GCAOKGBP_00004 |
5557 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
789C>G |
Val263Val |
M0021372 |
GCAOKGBP_00004 |
5881 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1113G>C |
Val371Val |
M0021373 |
GCAOKGBP_00004 |
6079 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1311C>G |
Gly437Gly |
M0021374 |
GCAOKGBP_00004 |
6160 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1392G>C |
Ala464Ala |
M0021375 |
GCAOKGBP_00004 |
6163 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1395C>T |
Tyr465Tyr |
M0021376 |
GCAOKGBP_00005 |
6922 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1129A>G |
Ile377Val |
M0021377 |
GCAOKGBP_00005 |
6933 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1118C>G |
Ala373Gly |
M0021378 |
GCAOKGBP_00005 |
6935 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1116G>A |
Ala372Ala |
M0021379 |
GCAOKGBP_00005 |
6950 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1101T>C |
Asp367Asp |
M0021380 |
GCAOKGBP_00005 |
7421 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
630T>C |
Tyr210Tyr |
M0021381 |
GCAOKGBP_00005 |
7571 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
480T>C |
Ala160Ala |
M0021382 |
GCAOKGBP_00002 |
1910 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
684A>G |
Gln228Gln |
M0021383 |
GCAOKGBP_00003 |
4110 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
402T>G |
Val134Val |
M0021384 |
GCAOKGBP_00003 |
4305 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
597T>G |
Arg199Arg |
M0021385 |
GCAOKGBP_00003 |
4308 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
600C>G |
Asp200Glu |
M0021386 |
GCAOKGBP_00003 |
4311 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
603C>G |
Leu201Leu |
M0021387 |
GCAOKGBP_00004 |
5344 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
576C>G |
Val192Val |
M0021388 |
GCAOKGBP_00005 |
6869 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1182T>C |
Cys394Cys |
M0021389 |
GCAOKGBP_00005 |
6875 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1176C>T |
Arg392Arg |
M0021390 |
GCAOKGBP_00005 |
6881 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1170C>G |
Val390Val |
M0021391 |
GCAOKGBP_00005 |
6884 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1167A>G |
Lys389Lys |
M0021392 |
GCAOKGBP_00005 |
6887 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1164T>C |
Pro388Pro |
M0021393 |
GCAOKGBP_00005 |
6890 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1161C>G |
Thr387Thr |
M0021394 |
GCAOKGBP_00006 |
8221 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1113G>C |
Val371Val |
M0021395 |
GCAOKGBP_00006 |
8227 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1107C>G |
Ala369Ala |
M0021396 |
GCAOKGBP_00006 |
8228 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1106C>A |
Ala369Asp |
M0021397 |
GCAOKGBP_00006 |
8230 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1104G>A |
Pro368Pro |
M0021398 |
GCAOKGBP_00006 |
8494 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
840T>C |
Ala280Ala |
M0021399 |
GCAOKGBP_00010 |
11886 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1026C>T |
Gly342Gly |
M0021400 |
GCAOKGBP_00019 |
24318 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2720C>T |
None |
M0021401 |
GCAOKGBP_00025 |
26058 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
129G>C |
Leu43Leu |
M0021402 |
GCAOKGBP_00026 |
28696 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
855T>A |
Val285Val |
M0021403 |
GCAOKGBP_00026 |
28708 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
843C>T |
Ala281Ala |
M0021404 |
GCAOKGBP_00026 |
28747 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
804C>G |
Thr268Thr |
M0021405 |
GCAOKGBP_00026 |
28762 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
789C>T |
Ala263Ala |
M0021406 |
GCAOKGBP_00026 |
28963 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
588G>C |
Leu196Leu |
M0021407 |
GCAOKGBP_00026 |
28972 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
579C>T |
Gly193Gly |
M0021408 |
GCAOKGBP_00026 |
28984 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
567G>C |
Ala189Ala |
M0021409 |
GCAOKGBP_00026 |
28989 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
562C>T |
Leu188Leu |
M0021410 |
GCAOKGBP_00026 |
29020 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
531T>G |
Leu177Leu |
M0021411 |
GCAOKGBP_00026 |
29083 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
468A>G |
Leu156Leu |
M0021412 |
GCAOKGBP_00026 |
29089 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
462C>T |
Ile154Ile |
M0021413 |
GCAOKGBP_00026 |
29098 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
453G>C |
Leu151Leu |
M0021414 |
GCAOKGBP_00026 |
29101 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
450G>C |
Ala150Ala |
M0021415 |
GCAOKGBP_00026 |
29149 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
402A>G |
Gln134Gln |
M0021416 |
GCAOKGBP_00026 |
29173 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
378A>G |
Gly126Gly |
M0021417 |
GCAOKGBP_00026 |
29176 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
375T>C |
Ala125Ala |
M0021418 |
GCAOKGBP_00026 |
29179 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
372C>T |
Asn124Asn |
M0021419 |
GCAOKGBP_00026 |
29188 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
363C>G |
Thr121Thr |
M0021420 |
GCAOKGBP_00026 |
29190 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
361A>T |
Thr121Ser |
M0021421 |
GCAOKGBP_00026 |
29191 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
360G>C |
Leu120Leu |
M0021422 |
GCAOKGBP_00026 |
29199 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
352C>T |
Leu118Leu |
M0021423 |
GCAOKGBP_00026 |
29209 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
342G>A |
Glu114Glu |
M0021424 |
GCAOKGBP_00026 |
29233 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
318G>C |
Leu106Leu |
M0021425 |
GCAOKGBP_00026 |
29236 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
315C>T |
Ser105Ser |
M0021426 |
GCAOKGBP_00026 |
29242 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
309A>G |
Ser103Ser |
M0021427 |
GCAOKGBP_00026 |
29281 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
270C>T |
Ala90Ala |
M0021428 |
GCAOKGBP_00026 |
29283 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
268G>T |
Ala90Ser |
M0021429 |
GCAOKGBP_00026 |
29284 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
267C>T |
Pro89Pro |
M0021430 |
GCAOKGBP_00026 |
29352 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
199G>C |
Asp67His |
M0021431 |
GCAOKGBP_00026 |
29404 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
147T>C |
Ile49Ile |
M0021432 |
GCAOKGBP_00026 |
29530 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
21C>G |
Leu7Leu |
M0021433 |
GCAOKGBP_00027 |
29589 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1158A>G |
Thr386Thr |
M0021434 |
GCAOKGBP_00027 |
29591 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1156A>G |
Thr386Ala |
M0021435 |
GCAOKGBP_00027 |
30012 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
735C>T |
Ile245Ile |
M0021436 |
GCAOKGBP_00018 |
20418 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
287G>A |
Arg96His |
M0021437 |
GCAOKGBP_00018 |
20425 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
294C>T |
Pro98Pro |
M0021438 |
GCAOKGBP_00018 |
20432 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
301G>A |
Val101Met |
M0021439 |
GCAOKGBP_00018 |
20468 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
337A>C |
Met113Leu |
M0021440 |
GCAOKGBP_00018 |
20506 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
375G>C |
Thr125Thr |
M0021441 |
GCAOKGBP_00018 |
20515 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
384T>C |
Gly128Gly |
M0021442 |
GCAOKGBP_00018 |
20530 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
399C>T |
His133His |
M0021443 |
GCAOKGBP_00018 |
20533 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
402A>G |
Ala134Ala |
M0021444 |
GCAOKGBP_00018 |
20546 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
415G>A |
Val139Ile |
M0021445 |
GCAOKGBP_00018 |
20635 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
504A>G |
Gly168Gly |
M0021446 |
GCAOKGBP_00018 |
20662 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
531G>C |
Gly177Gly |
M0021447 |
GCAOKGBP_00018 |
20706 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
575A>G |
Gln192Arg |
M0021448 |
GCAOKGBP_00018 |
20707 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
576A>C |
Gln192His |
M0021449 |
GCAOKGBP_00018 |
20710 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
579C>G |
His193Gln |
M0021450 |
GCAOKGBP_00018 |
20713 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
582C>G |
Ser194Ser |
M0021451 |
GCAOKGBP_00018 |
20732 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
601C>T |
Leu201Leu |
M0021452 |
GCAOKGBP_00018 |
20746 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
615C>G |
Leu205Leu |
M0021453 |
GCAOKGBP_00018 |
20861 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
730G>C |
Ala244Pro |
M0021454 |
GCAOKGBP_00018 |
20940 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
809G>A |
Gly270Glu |
M0021455 |
GCAOKGBP_00014 |
21049 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2250C>T |
None |
M0021456 |
GCAOKGBP_00014 |
21050 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2251T>C |
None |
M0021457 |
GCAOKGBP_00014 |
21051 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2252A>G |
None |
M0021458 |
GCAOKGBP_00019 |
21197 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
402C>T |
Asp134Asp |
M0021459 |
GCAOKGBP_00019 |
21198 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
401A>G |
Asp134Gly |
M0021460 |
GCAOKGBP_00019 |
21215 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
384C>A |
Ala128Ala |
M0021461 |
GCAOKGBP_00019 |
21226 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
373A>C |
Arg125Arg |
M0021462 |
GCAOKGBP_00019 |
21227 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
372A>G |
Glu124Glu |
M0021463 |
GCAOKGBP_00019 |
21230 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
369A>G |
Ala123Ala |
M0021464 |
GCAOKGBP_00019 |
21231 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
368C>A |
Ala123Glu |
M0021465 |
GCAOKGBP_00019 |
21235 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
364G>C |
Glu122Gln |
M0021466 |
GCAOKGBP_00019 |
21329 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
270G>C |
Ala90Ala |
M0021467 |
GCAOKGBP_00019 |
21331 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
268G>A |
Ala90Thr |
M0021468 |
GCAOKGBP_00019 |
21335 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
264A>G |
Gly88Gly |
M0021469 |
GCAOKGBP_00019 |
21356 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
243G>C |
Val81Val |
M0021470 |
GCAOKGBP_00019 |
21413 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
186G>A |
Gln62Gln |
M0021471 |
GCAOKGBP_00019 |
21533 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
66C>T |
Gly22Gly |
M0021472 |
GCAOKGBP_00019 |
21563 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
36C>T |
Pro12Pro |
M0021473 |
GCAOKGBP_00014 |
21624 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2825T>C |
None |
M0021474 |
GCAOKGBP_00014 |
21639 |
8 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2840C>T |
None |
M0021475 |
GCAOKGBP_00014 |
21640 |
8 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2841A>G |
None |
M0021476 |
GCAOKGBP_00014 |
21652 |
8 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2853G>C |
None |
M0021477 |
GCAOKGBP_00014 |
21653 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2854G>A |
None |
M0021478 |
GCAOKGBP_00020 |
21673 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
12T>C |
Arg4Arg |
M0021479 |
GCAOKGBP_00020 |
21677 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
16C>T |
Leu6Phe |
M0021480 |
GCAOKGBP_00020 |
21862 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
201C>T |
Gly67Gly |
M0021481 |
GCAOKGBP_00020 |
22009 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
Tyr116Tyr |
M0021482 |
GCAOKGBP_00022 |
23784 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
445A>G |
Ser149Gly |
M0021483 |
GCAOKGBP_00010 |
11976 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
936C>T |
Leu312Leu |
M0021484 |
GCAOKGBP_00010 |
12054 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
858C>G |
Pro286Pro |
M0021485 |
GCAOKGBP_00010 |
12056 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
856C>G |
Pro286Ala |
M0021486 |
GCAOKGBP_00010 |
12057 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
855T>G |
Pro285Pro |
M0021487 |
GCAOKGBP_00010 |
12058 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
854C>A |
Pro285His |
M0021488 |
GCAOKGBP_00010 |
12105 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
807C>G |
Ala269Ala |
M0021489 |
GCAOKGBP_00025 |
27108 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1179A>G |
Thr393Thr |
M0021490 |
GCAOKGBP_00012 |
14235 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
48G>A |
Leu16Leu |
M0021491 |
GCAOKGBP_00012 |
14307 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Gly40Gly |
M0021492 |
GCAOKGBP_00012 |
14688 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
501G>C |
Val167Val |
M0021493 |
GCAOKGBP_00012 |
14739 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
552G>C |
Thr184Thr |
M0021494 |
GCAOKGBP_00012 |
14759 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
572A>T |
Tyr191Phe |
M0021495 |
GCAOKGBP_00012 |
14760 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
573C>T |
Tyr191Tyr |
M0021496 |
GCAOKGBP_00012 |
14982 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
795G>A |
Val265Val |
M0021497 |
GCAOKGBP_00012 |
14985 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
798C>T |
Ala266Ala |
M0021498 |
GCAOKGBP_00005 |
7374 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
677C>G |
Thr226Ser |
M0021499 |
GCAOKGBP_00022 |
23941 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
288C>A |
Arg96Arg |
M0021500 |
GCAOKGBP_00022 |
23947 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
282T>G |
Arg94Arg |
M0021501 |
GCAOKGBP_00022 |
23968 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
261A>G |
Glu87Glu |
M0021502 |
GCAOKGBP_00022 |
23972 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
257C>T |
Ala86Val |
M0021503 |
GCAOKGBP_00022 |
23987 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
242T>C |
Val81Ala |
M0021504 |
GCAOKGBP_00005 |
7082 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
969T>G |
Asp323Glu |
M0021505 |
GCAOKGBP_00002 |
3494 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2268G>A |
Lys756Lys |
M0021506 |
GCAOKGBP_00002 |
3503 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2277C>T |
Gly759Gly |
M0021507 |
GCAOKGBP_00003 |
3798 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
90A>G |
Gly30Gly |
M0021508 |
GCAOKGBP_00003 |
3804 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
96A>C |
Glu32Asp |
M0021509 |
GCAOKGBP_00003 |
3807 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
99T>C |
Leu33Leu |
M0021510 |
GCAOKGBP_00003 |
3813 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
105C>G |
Leu35Leu |
M0021511 |
GCAOKGBP_00003 |
3814 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
106A>G |
Asn36Asp |
M0021512 |
GCAOKGBP_00026 |
28441 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1110G>C |
Pro370Pro |
M0021513 |
GCAOKGBP_00026 |
28444 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1107C>G |
Thr369Thr |
M0021514 |
GCAOKGBP_00026 |
28471 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1080C>G |
Ala360Ala |
M0021515 |
GCAOKGBP_00026 |
28672 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
879C>T |
Ile293Ile |
M0021516 |
GCAOKGBP_00026 |
28843 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
708T>C |
Asp236Asp |
M0021517 |
GCAOKGBP_00026 |
28925 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
626A>G |
Lys209Arg |
M0021518 |
GCAOKGBP_00026 |
28927 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
624C>G |
Ala208Ala |
M0021519 |
GCAOKGBP_00026 |
28939 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
612G>C |
Ala204Ala |
M0021520 |
GCAOKGBP_00026 |
29053 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
498T>G |
Arg166Arg |
M0021521 |
GCAOKGBP_00026 |
29293 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
258G>A |
Glu86Glu |
M0021522 |
GCAOKGBP_00026 |
29437 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
114A>G |
Val38Val |
M0021523 |
GCAOKGBP_00026 |
29443 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Arg36Arg |
M0021524 |
GCAOKGBP_00026 |
29478 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
73T>G |
Ser25Ala |
M0021525 |
GCAOKGBP_00026 |
29479 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
72T>C |
Leu24Leu |
M0021526 |
GCAOKGBP_00027 |
29862 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
885G>A |
Ala295Ala |
M0021527 |
GCAOKGBP_00017 |
20124 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
406C>T |
His136Tyr |
M0021528 |
GCAOKGBP_00018 |
20140 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
9T>C |
Arg3Arg |
M0021529 |
GCAOKGBP_00018 |
20176 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
45C>T |
Gly15Gly |
M0021530 |
GCAOKGBP_00018 |
20194 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
63A>G |
Arg21Arg |
M0021531 |
GCAOKGBP_00018 |
20197 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
66G>C |
Leu22Leu |
M0021532 |
GCAOKGBP_00018 |
20201 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
70A>G |
Thr24Ala |
M0021533 |
GCAOKGBP_00018 |
20221 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
90C>G |
Pro30Pro |
M0021534 |
GCAOKGBP_00018 |
20302 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
171C>A |
Asp57Glu |
M0021535 |
GCAOKGBP_00018 |
20305 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
174A>G |
Leu58Leu |
M0021536 |
GCAOKGBP_00018 |
20311 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
180G>A |
Leu60Leu |
M0021537 |
GCAOKGBP_00018 |
20327 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
196A>G |
Met66Val |
M0021538 |
GCAOKGBP_00018 |
20346 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
215C>G |
Ala72Gly |
M0021539 |
GCAOKGBP_00018 |
20354 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
223T>G |
Ser75Ala |
M0021540 |
GCAOKGBP_00018 |
20359 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
228G>A |
Gly76Gly |
M0021541 |
GCAOKGBP_00018 |
20365 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
234G>A |
Ala78Ala |
M0021542 |
GCAOKGBP_00019 |
21485 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
114T>C |
Ile38Ile |
M0021543 |
GCAOKGBP_00002 |
1547 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
321A>G |
Glu107Glu |
M0021544 |
GCAOKGBP_00002 |
1550 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
324C>T |
His108His |
M0021545 |
GCAOKGBP_00004 |
5854 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1086G>C |
Thr362Thr |
M0021546 |
GCAOKGBP_00004 |
6544 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1776C>G |
Val592Val |
M0021547 |
GCAOKGBP_00004 |
6545 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1777A>G |
Ile593Val |
M0021548 |
GCAOKGBP_00026 |
28200 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1351T>C |
Leu451Leu |
M0021549 |
GCAOKGBP_00026 |
28297 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1254G>A |
Ala418Ala |
M0021550 |
GCAOKGBP_00026 |
28381 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1170C>T |
Ser390Ser |
M0021551 |
GCAOKGBP_00026 |
28390 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1161G>C |
Ala387Ala |
M0021552 |
GCAOKGBP_00026 |
28585 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
966A>G |
Ser322Ser |
M0021553 |
GCAOKGBP_00026 |
28594 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
957G>A |
Glu319Glu |
M0021554 |
GCAOKGBP_00026 |
28597 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
954T>C |
Gly318Gly |
M0021555 |
GCAOKGBP_00012 |
14925 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
738T>C |
Gly246Gly |
M0021556 |
GCAOKGBP_00026 |
28834 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
717T>C |
Gly239Gly |
M0021557 |
GCAOKGBP_00026 |
29071 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
480A>G |
Glu160Glu |
M0021558 |
GCAOKGBP_00026 |
29096 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
455C>T |
Ala152Val |
M0021559 |
GCAOKGBP_00012 |
15017 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
830A>C |
Asp277Ala |
M0021560 |
GCAOKGBP_00012 |
15018 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
831T>G |
Asp277Glu |
M0021561 |
GCAOKGBP_00012 |
15024 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
837C>G |
Ala279Ala |
M0021562 |
GCAOKGBP_00012 |
15027 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
840A>G |
Lys280Lys |
M0021563 |
GCAOKGBP_00012 |
15030 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
843G>A |
Glu281Glu |
M0021564 |
GCAOKGBP_00025 |
26643 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
714C>T |
Asp238Asp |
M0021565 |
GCAOKGBP_00014 |
21623 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2824T>C |
None |
M0021566 |
GCAOKGBP_00022 |
24043 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
186G>A |
Gln62Gln |
M0021567 |
GCAOKGBP_00022 |
24064 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
165A>G |
Val55Val |
M0021568 |
GCAOKGBP_00025 |
26784 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
855G>C |
Gly285Gly |
M0021569 |
GCAOKGBP_00025 |
26787 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
858G>C |
Leu286Leu |
M0021570 |
GCAOKGBP_00025 |
26790 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
861A>G |
Ala287Ala |
M0021571 |
GCAOKGBP_00004 |
5446 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
678T>C |
Val226Val |
M0021572 |
GCAOKGBP_00002 |
1643 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
417A>G |
Glu139Glu |
M0021573 |
GCAOKGBP_00002 |
1745 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
519C>T |
His173His |
M0021574 |
GCAOKGBP_00002 |
1898 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
672C>T |
Ser224Ser |
M0021575 |
GCAOKGBP_00002 |
1901 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
675T>C |
Thr225Thr |
M0021576 |
GCAOKGBP_00002 |
1904 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
678C>T |
Asp226Asp |
Analysis of virulence factors contributing to bacterial pathogenicity
This table presents virulence factors identified within the plasmid cluster.
Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.
Gene Name |
vf_gene_id |
vf_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
vf_category |
gene_description |
condition |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
Gene Name |
cazy_id |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
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 |
GCAOKGBP_00004 |
4.A.2.1.18 |
86.1 |
1.5e-277 |
1 |
605 |
0.9758 |
0.9799 |
4 |
Group Translocators |
4.A |
Phosphotransfer-driven Group Translocators (PTS) |
4.A.2 |
The PTS Fructose-Mannitol (Fru) Family |
GCAOKGBP_00018 |
9.B.62.3.3 |
74.2 |
1.7e-80 |
1 |
221 |
0.7342 |
0.8675 |
9 |
Incompletely Characterized Transport Systems |
9.B |
Putative transport proteins |
9.B.62 |
The Copper Resistance (CopD) Family |