Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C1115 |
Reference Plasmid |
NZ_CP117026.1 |
Reference Plasmid Size |
183879 |
Reference Plasmid GC Content |
0.65 |
Reference Plasmid Mobility Type |
non-mobilizable |
Mutation sites in the plasmid cluster
The table lists mutations identified in the plasmid cluster.
Note: Mutations identified in this plasmid cluster are listed below. Click on a mutation ID to view full details..
mutid |
gname |
pos |
count |
tissue |
frequnt |
biotype |
consequence |
impact |
nucchange |
aachange |
M0108144 |
GNNFPGNI_00026 |
36980 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4912T>C |
None |
M0108145 |
GNNFPGNI_00026 |
37046 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4978A>G |
None |
M0108146 |
GNNFPGNI_00026 |
37065 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4997A>G |
None |
M0108147 |
GNNFPGNI_00034 |
37259 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
42T>C |
Gly14Gly |
M0108148 |
GNNFPGNI_00034 |
37290 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
73T>G |
Leu25Val |
M0108149 |
GNNFPGNI_00034 |
37331 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
114C>T |
Asp38Asp |
M0108150 |
GNNFPGNI_00036 |
38029 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
163C>T |
Leu55Leu |
M0108151 |
GNNFPGNI_00036 |
38037 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
171G>C |
Leu57Leu |
M0108152 |
GNNFPGNI_00036 |
38346 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
480G>C |
Thr160Thr |
M0108153 |
GNNFPGNI_00036 |
38358 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
492C>T |
Tyr164Tyr |
M0108154 |
GNNFPGNI_00036 |
38379 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
513T>C |
Thr171Thr |
M0108155 |
GNNFPGNI_00037 |
38537 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
87A>G |
Ala29Ala |
M0108156 |
GNNFPGNI_00037 |
38549 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
99C>G |
Val33Val |
M0108157 |
GNNFPGNI_00037 |
38558 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
108A>C |
Gly36Gly |
M0108158 |
GNNFPGNI_00037 |
38559 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
109A>G |
Met37Val |
M0108159 |
GNNFPGNI_00037 |
38564 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
114G>C |
Val38Val |
M0108160 |
GNNFPGNI_00037 |
38576 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
126A>G |
Pro42Pro |
M0108161 |
GNNFPGNI_00037 |
38582 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
132T>C |
Phe44Phe |
M0108162 |
GNNFPGNI_00037 |
38603 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
153G>A |
Ala51Ala |
M0108163 |
GNNFPGNI_00037 |
38735 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Asn95Asn |
M0108164 |
GNNFPGNI_00037 |
38897 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
447C>T |
Gly149Gly |
M0108165 |
GNNFPGNI_00037 |
38960 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
510T>G |
Leu170Leu |
M0108166 |
GNNFPGNI_00037 |
39002 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
552A>G |
Glu184Glu |
M0108167 |
GNNFPGNI_00037 |
39011 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
561G>C |
Pro187Pro |
M0108168 |
GNNFPGNI_00037 |
39035 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
585C>T |
Ile195Ile |
M0108169 |
GNNFPGNI_00037 |
39039 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
589G>T |
Ala197Ser |
M0108170 |
GNNFPGNI_00037 |
39065 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
615A>G |
Glu205Glu |
M0108171 |
GNNFPGNI_00037 |
39086 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
636G>A |
Ala212Ala |
M0108172 |
GNNFPGNI_00037 |
39122 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
672G>T |
Val224Val |
M0108173 |
GNNFPGNI_00037 |
39143 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
693C>A |
Gly231Gly |
M0108174 |
GNNFPGNI_00037 |
39152 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
702G>A |
Ala234Ala |
M0108175 |
GNNFPGNI_00038 |
39270 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
11G>A |
Arg4Lys |
M0108176 |
GNNFPGNI_00038 |
39382 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
123T>C |
Tyr41Tyr |
M0108177 |
GNNFPGNI_00038 |
39394 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
135C>T |
Gly45Gly |
M0108178 |
GNNFPGNI_00038 |
39436 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
177T>C |
Gly59Gly |
M0108179 |
GNNFPGNI_00038 |
39511 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
252C>G |
Arg84Arg |
M0108180 |
GNNFPGNI_00038 |
39575 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
316T>C |
Leu106Leu |
M0108181 |
GNNFPGNI_00038 |
39580 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
321A>G |
Lys107Lys |
M0108182 |
GNNFPGNI_00038 |
39649 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
390A>G |
Lys130Lys |
M0108183 |
GNNFPGNI_00038 |
39667 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
408C>T |
Asp136Asp |
M0108184 |
GNNFPGNI_00038 |
39747 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
488T>C |
Val163Ala |
M0108185 |
GNNFPGNI_00038 |
39757 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
498G>T |
Ala166Ala |
M0108186 |
GNNFPGNI_00038 |
39763 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
504A>G |
Thr168Thr |
M0108187 |
GNNFPGNI_00038 |
39772 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
513C>T |
Tyr171Tyr |
M0108188 |
GNNFPGNI_00038 |
39799 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
540C>T |
Thr180Thr |
M0108189 |
GNNFPGNI_00038 |
39832 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
573C>A |
Ala191Ala |
M0108190 |
GNNFPGNI_00038 |
39838 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
579G>T |
Ala193Ala |
M0108191 |
GNNFPGNI_00038 |
39871 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
612A>G |
Val204Val |
M0108192 |
GNNFPGNI_00038 |
39889 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
630G>C |
Pro210Pro |
M0108193 |
GNNFPGNI_00038 |
39904 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
645A>T |
Thr215Thr |
M0108194 |
GNNFPGNI_00038 |
39916 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
657C>T |
Gly219Gly |
M0108195 |
GNNFPGNI_00038 |
39970 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
711C>G |
Ala237Ala |
M0108196 |
GNNFPGNI_00038 |
40012 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
753C>G |
Val251Val |
M0108197 |
GNNFPGNI_00038 |
40108 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
849G>A |
Glu283Glu |
M0108198 |
GNNFPGNI_00038 |
40126 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
867T>C |
Gly289Gly |
M0108199 |
GNNFPGNI_00038 |
40141 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
882C>T |
Asp294Asp |
M0108200 |
GNNFPGNI_00038 |
40147 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
888G>T |
Ser296Ser |
M0108201 |
GNNFPGNI_00038 |
40165 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
906C>G |
Val302Val |
M0108202 |
GNNFPGNI_00038 |
40186 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
927C>T |
Cys309Cys |
M0108203 |
GNNFPGNI_00038 |
40222 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
963C>G |
Val321Val |
M0108204 |
GNNFPGNI_00038 |
40252 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
993T>C |
Thr331Thr |
M0108205 |
GNNFPGNI_00030 |
40586 |
10 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4904C>T |
None |
M0108206 |
GNNFPGNI_00039 |
40665 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
66G>A |
Glu22Glu |
M0108207 |
GNNFPGNI_00039 |
40719 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
120G>C |
Thr40Thr |
M0108208 |
GNNFPGNI_00039 |
40728 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
129C>T |
Asp43Asp |
M0108209 |
GNNFPGNI_00039 |
40740 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
141T>C |
Cys47Cys |
M0108210 |
GNNFPGNI_00039 |
40776 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
177C>T |
Gly59Gly |
M0108211 |
GNNFPGNI_00039 |
40783 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
184C>T |
Leu62Leu |
M0108212 |
GNNFPGNI_00039 |
40812 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
213C>T |
Tyr71Tyr |
M0108213 |
GNNFPGNI_00039 |
40848 |
11 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
249A>G |
Arg83Arg |
M0108214 |
GNNFPGNI_00039 |
40881 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
282T>C |
Leu94Leu |
M0108215 |
GNNFPGNI_00039 |
40890 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
291C>T |
Asp97Asp |
M0108216 |
GNNFPGNI_00039 |
40924 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
325G>A |
Ala109Thr |
M0108217 |
GNNFPGNI_00039 |
40944 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
345A>C |
Ala115Ala |
M0108218 |
GNNFPGNI_00039 |
40968 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
369C>A |
Arg123Arg |
M0108219 |
GNNFPGNI_00039 |
40986 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
387T>C |
Ala129Ala |
M0108220 |
GNNFPGNI_00039 |
41008 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
409T>A |
Ser137Thr |
M0108221 |
GNNFPGNI_00039 |
41028 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
429C>T |
Gly143Gly |
M0108222 |
GNNFPGNI_00039 |
41035 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
436A>G |
Thr146Ala |
M0108223 |
GNNFPGNI_00039 |
41036 |
6 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
437C>T |
Thr146Ile |
M0108224 |
GNNFPGNI_00039 |
41037 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
438C>G |
Thr146Thr |
M0108225 |
GNNFPGNI_00039 |
41043 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
444A>T |
Gly148Gly |
M0108226 |
GNNFPGNI_00039 |
41049 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
450T>C |
Gly150Gly |
M0108227 |
GNNFPGNI_00039 |
41073 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
474G>C |
Ser158Ser |
M0108228 |
GNNFPGNI_00039 |
41076 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
477C>T |
Asp159Asp |
M0108229 |
GNNFPGNI_00039 |
41081 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
482G>A |
Arg161His |
M0108230 |
GNNFPGNI_00039 |
41136 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
537G>C |
Val179Val |
M0108231 |
GNNFPGNI_00039 |
41145 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
546A>C |
Arg182Arg |
M0108232 |
GNNFPGNI_00039 |
41179 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
580G>A |
Asp194Asn |
M0108233 |
GNNFPGNI_00039 |
41254 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
655G>C |
Ala219Pro |
M0108234 |
GNNFPGNI_00039 |
41378 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
779T>A |
Leu260Gln |
M0108235 |
GNNFPGNI_00040 |
41474 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Ala22Ala |
M0108236 |
GNNFPGNI_00040 |
41483 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
75C>T |
Ile25Ile |
M0108237 |
GNNFPGNI_00040 |
41486 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
78C>G |
Ala26Ala |
M0108238 |
GNNFPGNI_00040 |
41497 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
89T>C |
Met30Thr |
M0108239 |
GNNFPGNI_00040 |
41540 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
132C>G |
Gly44Gly |
M0108240 |
GNNFPGNI_00040 |
41582 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
174T>C |
Gly58Gly |
M0108241 |
GNNFPGNI_00040 |
41592 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
184G>T |
Ala62Ser |
M0108242 |
GNNFPGNI_00040 |
41624 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
216A>G |
Leu72Leu |
M0108243 |
GNNFPGNI_00040 |
41657 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
249A>G |
Pro83Pro |
M0108244 |
GNNFPGNI_00040 |
41660 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
252C>A |
Ala84Ala |
M0108245 |
GNNFPGNI_00040 |
41663 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
255A>C |
Gly85Gly |
M0108246 |
GNNFPGNI_00040 |
41675 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
267T>A |
Ala89Ala |
M0108247 |
GNNFPGNI_00040 |
41678 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
270G>C |
Pro90Pro |
M0108248 |
GNNFPGNI_00040 |
41679 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
271C>G |
Pro91Ala |
M0108249 |
GNNFPGNI_00040 |
41689 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
281C>G |
Thr94Ser |
M0108250 |
GNNFPGNI_00040 |
41726 |
11 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
318T>G |
Pro106Pro |
M0108251 |
GNNFPGNI_00040 |
41765 |
11 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
357C>G |
Val119Val |
M0108252 |
GNNFPGNI_00050 |
51421 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
198T>C |
Asn66Asn |
M0108253 |
GNNFPGNI_00050 |
51445 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
222A>G |
Thr74Thr |
M0108254 |
GNNFPGNI_00050 |
51505 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
282T>C |
Arg94Arg |
M0108255 |
GNNFPGNI_00050 |
51541 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
318T>C |
Leu106Leu |
M0108256 |
GNNFPGNI_00050 |
51542 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
319C>A |
Gln107Lys |
M0108257 |
GNNFPGNI_00050 |
51562 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
339G>A |
Gly113Gly |
M0108258 |
GNNFPGNI_00051 |
51674 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
42G>A |
Ala14Ala |
M0108259 |
GNNFPGNI_00051 |
51707 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
75C>G |
Asp25Glu |
M0108260 |
GNNFPGNI_00051 |
51737 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
105G>C |
Ser35Ser |
M0108261 |
GNNFPGNI_00051 |
51739 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
107G>C |
Ser36Thr |
M0108262 |
GNNFPGNI_00051 |
51748 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
116T>C |
Val39Ala |
M0108263 |
GNNFPGNI_00051 |
51773 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
141C>T |
Gly47Gly |
M0108264 |
GNNFPGNI_00051 |
51779 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Asp49Asp |
M0108265 |
GNNFPGNI_00051 |
51785 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
153C>T |
Tyr51Tyr |
M0108266 |
GNNFPGNI_00051 |
51789 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
157G>A |
Gly53Ser |
M0108267 |
GNNFPGNI_00051 |
51806 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
174C>A |
Gly58Gly |
M0108268 |
GNNFPGNI_00051 |
51857 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
225G>A |
Glu75Glu |
M0108269 |
GNNFPGNI_00051 |
51881 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
249T>C |
Tyr83Tyr |
M0108270 |
GNNFPGNI_00051 |
51893 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
261G>C |
Pro87Pro |
M0108271 |
GNNFPGNI_00051 |
51896 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
264G>A |
Lys88Lys |
M0108272 |
GNNFPGNI_00051 |
51929 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
297T>C |
Pro99Pro |
M0108273 |
GNNFPGNI_00051 |
51930 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
298A>G |
Thr100Ala |
M0108274 |
GNNFPGNI_00051 |
51950 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
318A>G |
Gln106Gln |
M0108275 |
GNNFPGNI_00051 |
51953 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
321G>T |
Leu107Leu |
M0108276 |
GNNFPGNI_00051 |
51965 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
333C>G |
Ser111Ser |
M0108277 |
GNNFPGNI_00051 |
51974 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
342C>G |
Leu114Leu |
M0108278 |
GNNFPGNI_00051 |
51980 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
348A>G |
Glu116Glu |
M0108279 |
GNNFPGNI_00051 |
51981 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
349C>T |
Leu117Leu |
M0108280 |
GNNFPGNI_00051 |
52019 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
387T>C |
Asn129Asn |
M0108281 |
GNNFPGNI_00051 |
52058 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Asp142Asp |
M0108282 |
GNNFPGNI_00051 |
52109 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
477T>C |
Pro159Pro |
M0108283 |
GNNFPGNI_00051 |
52157 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
525G>A |
Arg175Arg |
M0108284 |
GNNFPGNI_00051 |
52169 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
537T>C |
Asp179Asp |
M0108285 |
GNNFPGNI_00051 |
52175 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
543T>C |
Arg181Arg |
M0108286 |
GNNFPGNI_00051 |
52196 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
564C>G |
Val188Val |
M0108287 |
GNNFPGNI_00051 |
52197 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
565C>T |
Leu189Leu |
M0108288 |
GNNFPGNI_00051 |
52211 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
579G>C |
Ser193Ser |
M0108289 |
GNNFPGNI_00051 |
52238 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
606T>C |
Tyr202Tyr |
M0108290 |
GNNFPGNI_00051 |
52247 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
615G>C |
Ala205Ala |
M0108291 |
GNNFPGNI_00051 |
52250 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
618T>C |
Cys206Cys |
M0108292 |
GNNFPGNI_00051 |
52256 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
624C>G |
Ala208Ala |
M0108293 |
GNNFPGNI_00051 |
52295 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
663C>T |
Asp221Asp |
M0108294 |
GNNFPGNI_00051 |
52298 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
666T>C |
Arg222Arg |
M0108295 |
GNNFPGNI_00051 |
52346 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
714C>T |
Arg238Arg |
M0108296 |
GNNFPGNI_00051 |
52376 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
744C>G |
Gly248Gly |
M0108297 |
GNNFPGNI_00051 |
52379 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
747G>A |
Gln249Gln |
M0108298 |
GNNFPGNI_00051 |
52394 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
762G>C |
Gly254Gly |
M0108299 |
GNNFPGNI_00052 |
52603 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
63A>G |
Ala21Ala |
M0108300 |
GNNFPGNI_00052 |
52604 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
64T>C |
Leu22Leu |
M0108301 |
GNNFPGNI_00052 |
52606 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
66G>T |
Leu22Phe |
M0108302 |
GNNFPGNI_00052 |
52631 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
91C>A |
Leu31Met |
M0108303 |
GNNFPGNI_00052 |
52687 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
147C>G |
Ala49Ala |
M0108304 |
GNNFPGNI_00052 |
52711 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
171T>C |
Phe57Phe |
M0108305 |
GNNFPGNI_00052 |
52729 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
189T>C |
Gly63Gly |
M0108306 |
GNNFPGNI_00052 |
52810 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
270T>C |
Arg90Arg |
M0108307 |
GNNFPGNI_00052 |
52846 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
306G>A |
Ser102Ser |
M0108308 |
GNNFPGNI_00052 |
53017 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
477G>C |
Ser159Ser |
M0108309 |
GNNFPGNI_00052 |
53023 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
483A>G |
Glu161Glu |
M0108310 |
GNNFPGNI_00052 |
53128 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
588T>C |
Ala196Ala |
M0108311 |
GNNFPGNI_00052 |
53194 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
654T>C |
Asp218Asp |
M0108312 |
GNNFPGNI_00052 |
53200 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
660A>G |
Glu220Glu |
M0108313 |
GNNFPGNI_00052 |
53201 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
661T>C |
Leu221Leu |
M0108314 |
GNNFPGNI_00052 |
53233 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
693G>A |
Ala231Ala |
M0108315 |
GNNFPGNI_00052 |
53245 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
705A>G |
Lys235Lys |
M0108316 |
GNNFPGNI_00052 |
53251 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
711G>A |
Ala237Ala |
M0108317 |
GNNFPGNI_00052 |
53257 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
717G>A |
Lys239Lys |
M0108318 |
GNNFPGNI_00052 |
53266 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
726C>G |
Arg242Arg |
M0108319 |
GNNFPGNI_00052 |
53308 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
768C>T |
Ile256Ile |
M0108320 |
GNNFPGNI_00052 |
53320 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
780C>G |
Thr260Thr |
M0108321 |
GNNFPGNI_00052 |
53326 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
786C>G |
Ala262Ala |
M0108322 |
GNNFPGNI_00052 |
53329 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
789G>A |
Lys263Lys |
M0108323 |
GNNFPGNI_00052 |
53410 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
870A>G |
Ala290Ala |
M0108324 |
GNNFPGNI_00052 |
53419 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
879T>C |
Asp293Asp |
M0108325 |
GNNFPGNI_00052 |
53479 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
939G>A |
Leu313Leu |
M0108326 |
GNNFPGNI_00052 |
53518 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
978G>C |
Leu326Leu |
M0108327 |
GNNFPGNI_00052 |
53590 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1050G>C |
Leu350Leu |
M0108328 |
GNNFPGNI_00052 |
53593 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1053C>G |
Gly351Gly |
M0108329 |
GNNFPGNI_00052 |
53599 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1059G>C |
Thr353Thr |
M0108330 |
GNNFPGNI_00052 |
53881 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1341G>A |
Gln447Gln |
M0108331 |
GNNFPGNI_00053 |
54264 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Ile86Ile |
M0108332 |
GNNFPGNI_00053 |
54312 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
306G>T |
Leu102Leu |
M0108333 |
GNNFPGNI_00053 |
54330 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
324T>C |
Phe108Phe |
M0108334 |
GNNFPGNI_00053 |
54447 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
441A>G |
Ala147Ala |
M0108335 |
GNNFPGNI_00053 |
54453 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
447G>C |
Thr149Thr |
M0108336 |
GNNFPGNI_00053 |
54465 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
459C>G |
Thr153Thr |
M0108337 |
GNNFPGNI_00053 |
54483 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
477C>G |
Ala159Ala |
M0108338 |
GNNFPGNI_00053 |
54492 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
486T>C |
Asp162Asp |
M0108339 |
GNNFPGNI_00053 |
54495 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
489G>A |
Glu163Glu |
M0108340 |
GNNFPGNI_00053 |
54498 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
492T>C |
His164His |
M0108341 |
GNNFPGNI_00053 |
54534 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
528C>G |
Gly176Gly |
M0108342 |
GNNFPGNI_00053 |
54552 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
546C>T |
Asp182Asp |
M0108343 |
GNNFPGNI_00053 |
54555 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
549G>C |
Leu183Leu |
M0108344 |
GNNFPGNI_00053 |
54570 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
564C>T |
Asn188Asn |
M0108345 |
GNNFPGNI_00053 |
54579 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
573G>A |
Glu191Glu |
M0108346 |
GNNFPGNI_00053 |
54615 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
609C>G |
Arg203Arg |
M0108347 |
GNNFPGNI_00053 |
54623 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
617G>C |
Ser206Thr |
M0108348 |
GNNFPGNI_00053 |
54624 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
618T>C |
Ser206Ser |
M0108349 |
GNNFPGNI_00053 |
54630 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
624C>A |
Thr208Thr |
M0108350 |
GNNFPGNI_00053 |
54633 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
627T>C |
Gly209Gly |
M0108351 |
GNNFPGNI_00053 |
54651 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
645T>C |
Asn215Asn |
M0108352 |
GNNFPGNI_00053 |
54657 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
651A>C |
Ile217Ile |
M0108353 |
GNNFPGNI_00053 |
54705 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
699G>C |
Thr233Thr |
M0108354 |
GNNFPGNI_00053 |
54750 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
744T>C |
Pro248Pro |
M0108355 |
GNNFPGNI_00053 |
54774 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
768G>C |
Ala256Ala |
M0108356 |
GNNFPGNI_00053 |
54783 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
777T>C |
Ile259Ile |
M0108357 |
GNNFPGNI_00053 |
54810 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
804G>A |
Ala268Ala |
M0108358 |
GNNFPGNI_00053 |
54849 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
843G>C |
Leu281Leu |
M0108359 |
GNNFPGNI_00053 |
54852 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
846A>G |
Lys282Lys |
M0108360 |
GNNFPGNI_00053 |
54867 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
861T>C |
Ile287Ile |
M0108361 |
GNNFPGNI_00053 |
54900 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
894A>C |
Ser298Ser |
M0108362 |
GNNFPGNI_00053 |
54903 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
897C>T |
Asp299Asp |
M0108363 |
GNNFPGNI_00053 |
54906 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
900C>G |
Ala300Ala |
M0108364 |
GNNFPGNI_00053 |
54942 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
936C>G |
Ala312Ala |
M0108365 |
GNNFPGNI_00053 |
54960 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
954C>T |
Tyr318Tyr |
M0108366 |
GNNFPGNI_00053 |
54966 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
960G>A |
Ser320Ser |
M0108367 |
GNNFPGNI_00053 |
54972 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
966T>G |
Ala322Ala |
M0108368 |
GNNFPGNI_00053 |
54999 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
993T>C |
Leu331Leu |
M0108369 |
GNNFPGNI_00053 |
55047 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1041T>C |
Leu347Leu |
M0108370 |
GNNFPGNI_00053 |
55089 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1083C>G |
Leu361Leu |
M0108371 |
GNNFPGNI_00053 |
55185 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1179T>C |
Tyr393Tyr |
M0108372 |
GNNFPGNI_00053 |
55188 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1182C>T |
His394His |
M0108373 |
GNNFPGNI_00053 |
55221 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1215T>C |
Val405Val |
M0108374 |
GNNFPGNI_00053 |
55266 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1260C>G |
Ala420Ala |
M0108375 |
GNNFPGNI_00053 |
55305 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1299G>C |
Gly433Gly |
M0108376 |
GNNFPGNI_00053 |
55329 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1323C>T |
Ile441Ile |
M0108377 |
GNNFPGNI_00053 |
55335 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1329G>A |
Gly443Gly |
M0108378 |
GNNFPGNI_00053 |
55338 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1332T>C |
His444His |
M0108379 |
GNNFPGNI_00053 |
55341 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1335G>C |
Ala445Ala |
M0108380 |
GNNFPGNI_00053 |
55351 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1345T>C |
Leu449Leu |
M0108381 |
GNNFPGNI_00053 |
55356 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1350A>G |
Gln450Gln |
M0108382 |
GNNFPGNI_00053 |
55377 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1371A>G |
Glu457Glu |
M0108383 |
GNNFPGNI_00053 |
55383 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1377C>G |
Ala459Ala |
M0108384 |
GNNFPGNI_00053 |
55398 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1392C>G |
Thr464Thr |
M0108385 |
GNNFPGNI_00053 |
55410 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1404C>T |
Tyr468Tyr |
M0108386 |
GNNFPGNI_00053 |
55416 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1410C>T |
Tyr470Tyr |
M0108387 |
GNNFPGNI_00053 |
55422 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1416T>C |
Asn472Asn |
M0108388 |
GNNFPGNI_00053 |
55428 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1422A>G |
Ser474Ser |
M0108389 |
GNNFPGNI_00053 |
55446 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1440G>T |
Ser480Ser |
M0108390 |
GNNFPGNI_00053 |
55482 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1476C>A |
Pro492Pro |
M0108391 |
GNNFPGNI_00053 |
55521 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1515C>T |
Asn505Asn |
M0108392 |
GNNFPGNI_00053 |
55527 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1521C>T |
Asp507Asp |
M0108393 |
GNNFPGNI_00053 |
55530 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1524T>C |
Gly508Gly |
M0108394 |
GNNFPGNI_00053 |
55533 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1527C>G |
Gly509Gly |
M0108395 |
GNNFPGNI_00053 |
55539 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1533G>A |
Thr511Thr |
M0108396 |
GNNFPGNI_00053 |
55575 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1569C>G |
Thr523Thr |
M0108397 |
GNNFPGNI_00053 |
55599 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1593A>G |
Ala531Ala |
M0108398 |
GNNFPGNI_00053 |
55623 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1617G>A |
Gly539Gly |
M0108399 |
GNNFPGNI_00053 |
55644 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1638G>C |
Arg546Arg |
M0108400 |
GNNFPGNI_00054 |
57885 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
264A>G |
Gly88Gly |
M0108401 |
GNNFPGNI_00054 |
57887 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
266T>A |
Phe89Tyr |
M0108402 |
GNNFPGNI_00054 |
57892 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
271G>C |
Val91Leu |
M0108403 |
GNNFPGNI_00054 |
57897 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
276C>G |
Gly92Gly |
M0108404 |
GNNFPGNI_00055 |
58661 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
615T>C |
Gly205Gly |
M0108405 |
GNNFPGNI_00055 |
58662 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
616T>G |
Ser206Ala |
M0108406 |
GNNFPGNI_00055 |
58665 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
619G>A |
Ala207Thr |
M0108407 |
GNNFPGNI_00055 |
58667 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
621A>G |
Ala207Ala |
M0108408 |
GNNFPGNI_00056 |
58687 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-27A>C |
None |
M0108409 |
GNNFPGNI_00056 |
58722 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
9T>G |
Thr3Thr |
M0108410 |
GNNFPGNI_00056 |
58740 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
27G>A |
Glu9Glu |
M0108411 |
GNNFPGNI_00056 |
58744 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
31A>C |
Ile11Leu |
M0108412 |
GNNFPGNI_00056 |
58752 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
39C>T |
Asn13Asn |
M0108413 |
GNNFPGNI_00056 |
58773 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
60C>G |
Ala20Ala |
M0108414 |
GNNFPGNI_00056 |
58785 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
72A>G |
Lys24Lys |
M0108415 |
GNNFPGNI_00056 |
58821 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
108C>T |
Ala36Ala |
M0108416 |
GNNFPGNI_00041 |
42826 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
627G>A |
Ser209Ser |
M0108417 |
GNNFPGNI_00041 |
42829 |
11 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
630C>A |
Asp210Glu |
M0108418 |
GNNFPGNI_00041 |
42850 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
651G>A |
Gln217Gln |
M0108419 |
GNNFPGNI_00041 |
42901 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
702G>A |
Val234Val |
M0108420 |
GNNFPGNI_00041 |
42961 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
762T>C |
Ile254Ile |
M0108421 |
GNNFPGNI_00041 |
43072 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
873T>C |
Arg291Arg |
M0108422 |
GNNFPGNI_00041 |
43087 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
888G>T |
Thr296Thr |
M0108423 |
GNNFPGNI_00041 |
43099 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
900G>A |
Leu300Leu |
M0108424 |
GNNFPGNI_00041 |
43108 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
909T>C |
Cys303Cys |
M0108425 |
GNNFPGNI_00041 |
43135 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
936G>T |
Ser312Ser |
M0108426 |
GNNFPGNI_00041 |
43159 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
960C>T |
Arg320Arg |
M0108427 |
GNNFPGNI_00041 |
43171 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
972C>G |
Leu324Leu |
M0108428 |
GNNFPGNI_00041 |
43246 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1047A>G |
Glu349Glu |
M0108429 |
GNNFPGNI_00041 |
43247 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1048T>C |
Leu350Leu |
M0108430 |
GNNFPGNI_00041 |
43252 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1053C>T |
Arg351Arg |
M0108431 |
GNNFPGNI_00041 |
43288 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1089C>A |
Val363Val |
M0108432 |
GNNFPGNI_00041 |
43315 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1116T>G |
Gly372Gly |
M0108433 |
GNNFPGNI_00041 |
43321 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1122A>T |
Ala374Ala |
M0108434 |
GNNFPGNI_00041 |
43360 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1161T>G |
Gly387Gly |
M0108435 |
GNNFPGNI_00041 |
43411 |
11 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1212C>T |
Cys404Cys |
M0108436 |
GNNFPGNI_00041 |
43426 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1227G>C |
Leu409Leu |
M0108437 |
GNNFPGNI_00041 |
43498 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1299C>T |
Asn433Asn |
M0108438 |
GNNFPGNI_00041 |
43588 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1389A>G |
Pro463Pro |
M0108439 |
GNNFPGNI_00041 |
43603 |
11 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1404G>C |
Ala468Ala |
M0108440 |
GNNFPGNI_00041 |
43667 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1468T>C |
Leu490Leu |
M0108441 |
GNNFPGNI_00041 |
43696 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1497G>C |
Ala499Ala |
M0108442 |
GNNFPGNI_00041 |
43777 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1578A>G |
Leu526Leu |
M0108443 |
GNNFPGNI_00041 |
43843 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1644C>T |
Asp548Asp |
M0108444 |
GNNFPGNI_00041 |
43861 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1662C>G |
Leu554Leu |
M0108445 |
GNNFPGNI_00041 |
43864 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1665A>G |
Ala555Ala |
M0108446 |
GNNFPGNI_00041 |
43897 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1698G>T |
Arg566Arg |
M0108447 |
GNNFPGNI_00041 |
43930 |
17 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1731C>T |
Gly577Gly |
M0108448 |
GNNFPGNI_00041 |
43939 |
17 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1740C>T |
Asp580Asp |
M0108449 |
GNNFPGNI_00041 |
43942 |
17 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1743C>T |
Arg581Arg |
M0108450 |
GNNFPGNI_00041 |
44023 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1824G>T |
Ser608Ser |
M0108451 |
GNNFPGNI_00041 |
44032 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1833C>G |
Gly611Gly |
M0108452 |
GNNFPGNI_00041 |
44047 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1848T>C |
Ile616Ile |
M0108453 |
GNNFPGNI_00041 |
44068 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1869C>A |
Gly623Gly |
M0108454 |
GNNFPGNI_00041 |
44098 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1899C>T |
Gly633Gly |
M0108455 |
GNNFPGNI_00041 |
44128 |
11 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1929G>A |
Leu643Leu |
M0108456 |
GNNFPGNI_00041 |
44131 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1932C>G |
Thr644Thr |
M0108457 |
GNNFPGNI_00041 |
44140 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1941G>A |
Glu647Glu |
M0108458 |
GNNFPGNI_00041 |
44188 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1989T>C |
Thr663Thr |
M0108459 |
GNNFPGNI_00041 |
44230 |
17 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2031T>C |
Asp677Asp |
M0108460 |
GNNFPGNI_00041 |
44254 |
17 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2055A>G |
Leu685Leu |
M0108461 |
GNNFPGNI_00041 |
44320 |
17 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2121T>A |
Arg707Arg |
M0108462 |
GNNFPGNI_00041 |
44341 |
17 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2142G>C |
Ala714Ala |
M0108463 |
GNNFPGNI_00041 |
44363 |
16 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
2164T>A |
Ser722Thr |
M0108464 |
GNNFPGNI_00041 |
44364 |
16 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
2165C>G |
Ser722Cys |
M0108465 |
GNNFPGNI_00041 |
44365 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2166T>C |
Ser722Ser |
M0108466 |
GNNFPGNI_00041 |
44392 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2193C>G |
Gly731Gly |
M0108467 |
GNNFPGNI_00041 |
44398 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2199T>C |
Leu733Leu |
M0108468 |
GNNFPGNI_00140 |
128246 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
726A>G |
Gln242Gln |
M0108469 |
GNNFPGNI_00140 |
128249 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
723T>C |
Leu241Leu |
M0108470 |
GNNFPGNI_00140 |
128258 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
714T>C |
Phe238Phe |
M0108471 |
GNNFPGNI_00140 |
128276 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
696A>G |
Ser232Ser |
M0108472 |
GNNFPGNI_00140 |
128396 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
576G>C |
Pro192Pro |
M0108473 |
GNNFPGNI_00141 |
128993 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
702G>A |
Ala234Ala |
M0108474 |
GNNFPGNI_00141 |
128996 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
699A>G |
Pro233Pro |
M0108475 |
GNNFPGNI_00141 |
129130 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
565G>A |
Asp189Asn |
M0108476 |
GNNFPGNI_00141 |
129277 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
418A>G |
Ser140Gly |
M0108477 |
GNNFPGNI_00141 |
129539 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
156T>C |
Phe52Phe |
M0108478 |
GNNFPGNI_00141 |
129629 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Leu22Leu |
M0108479 |
GNNFPGNI_00144 |
130666 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
272G>C |
Gly91Ala |
M0108480 |
GNNFPGNI_00144 |
130710 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
228T>C |
Val76Val |
M0108481 |
GNNFPGNI_00145 |
131126 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
696A>G |
Leu232Leu |
M0108482 |
GNNFPGNI_00145 |
131614 |
13 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
208A>G |
Thr70Ala |
M0108483 |
GNNFPGNI_00146 |
131905 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
933T>C |
Asp311Asp |
M0108484 |
GNNFPGNI_00146 |
131991 |
12 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
847G>A |
Ala283Thr |
M0108485 |
GNNFPGNI_00146 |
132050 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
788G>A |
Arg263His |
M0108486 |
GNNFPGNI_00148 |
133957 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
300T>C |
Asn100Asn |
M0108487 |
GNNFPGNI_00148 |
134012 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
245A>G |
Lys82Arg |
M0108488 |
GNNFPGNI_00148 |
134038 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
219T>G |
Arg73Arg |
M0108489 |
GNNFPGNI_00148 |
134044 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Gly71Gly |
M0108490 |
GNNFPGNI_00148 |
134050 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
207C>T |
Asp69Asp |
M0108491 |
GNNFPGNI_00148 |
134215 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
42G>A |
Pro14Pro |
M0108492 |
GNNFPGNI_00148 |
134223 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
34G>C |
Ala12Pro |
M0108493 |
GNNFPGNI_00148 |
134227 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
30G>C |
Pro10Pro |
M0108494 |
GNNFPGNI_00148 |
134231 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
26T>C |
Val9Ala |
M0108495 |
GNNFPGNI_00148 |
134244 |
14 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
13C>G |
Pro5Ala |
M0108496 |
GNNFPGNI_00149 |
134259 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
189G>A |
Ala63Ala |
M0108497 |
GNNFPGNI_00149 |
134262 |
14 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
186G>T |
Glu62Asp |
M0108498 |
GNNFPGNI_00149 |
134274 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
174A>C |
Leu58Leu |
M0108499 |
GNNFPGNI_00149 |
134286 |
11 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
162T>C |
Tyr54Tyr |
M0108500 |
GNNFPGNI_00149 |
134309 |
15 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
139A>G |
Ile47Val |
M0108501 |
GNNFPGNI_00149 |
134319 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
129G>A |
Glu43Glu |
M0108502 |
GNNFPGNI_00149 |
134331 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
117T>C |
Asn39Asn |
M0108503 |
GNNFPGNI_00149 |
134356 |
15 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
92C>A |
Ala31Glu |
M0108504 |
GNNFPGNI_00149 |
134373 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
75T>C |
Asp25Asp |
M0108505 |
GNNFPGNI_00149 |
134420 |
15 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
28C>A |
Leu10Ile |
M0108506 |
GNNFPGNI_00149 |
134424 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
24C>T |
Tyr8Tyr |
M0108507 |
GNNFPGNI_00149 |
134442 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
6G>A |
Ala2Ala |
M0108508 |
GNNFPGNI_00150 |
134456 |
15 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1691A>G |
Asp564Gly |
M0108509 |
GNNFPGNI_00150 |
134464 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1683G>A |
Ala561Ala |
M0108510 |
GNNFPGNI_00150 |
134472 |
15 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1675A>G |
Lys559Glu |
M0108511 |
GNNFPGNI_00150 |
134482 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1665C>T |
Pro555Pro |
M0108512 |
GNNFPGNI_00150 |
134485 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1662T>G |
Val554Val |
M0108513 |
GNNFPGNI_00150 |
134496 |
13 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1651C>G |
Pro551Ala |
M0108514 |
GNNFPGNI_00150 |
134500 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1647C>A |
Ile549Ile |
M0108515 |
GNNFPGNI_00150 |
134517 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1630C>A |
Arg544Arg |
M0108516 |
GNNFPGNI_00150 |
134526 |
13 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1621A>G |
Asn541Asp |
M0108517 |
GNNFPGNI_00150 |
134929 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1218C>G |
Ala406Ala |
M0108518 |
GNNFPGNI_00152 |
137547 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
150T>C |
Ala50Ala |
M0108519 |
GNNFPGNI_00153 |
138812 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
87T>C |
Leu29Leu |
M0108520 |
GNNFPGNI_00153 |
138842 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
57G>C |
Leu19Leu |
M0108521 |
GNNFPGNI_00121 |
118340 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4452G>A |
None |
M0108522 |
GNNFPGNI_00121 |
118383 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4495G>C |
None |
M0108523 |
GNNFPGNI_00121 |
118427 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4539C>A |
None |
M0108524 |
GNNFPGNI_00121 |
118479 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4591G>A |
None |
M0108525 |
GNNFPGNI_00127 |
119292 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
984C>T |
Arg328Arg |
M0108526 |
GNNFPGNI_00127 |
119297 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
979A>G |
Ser327Gly |
M0108527 |
GNNFPGNI_00127 |
119307 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
969G>C |
Pro323Pro |
M0108528 |
GNNFPGNI_00127 |
119319 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
957A>G |
Ala319Ala |
M0108529 |
GNNFPGNI_00127 |
119685 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
591C>T |
His197His |
M0108530 |
GNNFPGNI_00127 |
119712 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
564A>G |
Ala188Ala |
M0108531 |
GNNFPGNI_00127 |
119768 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
508A>C |
Arg170Arg |
M0108532 |
GNNFPGNI_00127 |
119946 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
330T>G |
Leu110Leu |
M0108533 |
GNNFPGNI_00127 |
119949 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
327A>G |
Lys109Lys |
M0108534 |
GNNFPGNI_00127 |
119970 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
306T>G |
Arg102Arg |
M0108535 |
GNNFPGNI_00127 |
119973 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
303C>A |
Gly101Gly |
M0108536 |
GNNFPGNI_00127 |
120015 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
261C>T |
Gly87Gly |
M0108537 |
GNNFPGNI_00127 |
120162 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
114G>C |
Ala38Ala |
M0108538 |
GNNFPGNI_00127 |
120212 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
64C>G |
His22Asp |
M0108539 |
GNNFPGNI_00122 |
120608 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4197C>G |
None |
M0108540 |
GNNFPGNI_00122 |
120798 |
6 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4387G>C |
None |
M0108541 |
GNNFPGNI_00125 |
122330 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4164T>G |
None |
M0108542 |
GNNFPGNI_00125 |
122335 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4169C>A |
None |
M0108543 |
GNNFPGNI_00125 |
122336 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4170G>A |
None |
M0108544 |
GNNFPGNI_00125 |
122363 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4197T>C |
None |
M0108545 |
GNNFPGNI_00122 |
121352 |
6 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4941C>A |
None |
M0108546 |
GNNFPGNI_00122 |
121377 |
7 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4966T>G |
None |
M0108547 |
GNNFPGNI_00122 |
121383 |
6 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4972G>C |
None |
M0108548 |
GNNFPGNI_00122 |
121387 |
6 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4976T>C |
None |
M0108549 |
GNNFPGNI_00122 |
121395 |
7 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4984T>G |
None |
M0108550 |
GNNFPGNI_00122 |
121398 |
7 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4987A>C |
None |
M0108551 |
GNNFPGNI_00122 |
121407 |
7 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4996T>A |
None |
M0108552 |
GNNFPGNI_00121 |
112326 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1563T>C |
Arg521Arg |
M0108553 |
GNNFPGNI_00122 |
115611 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
801T>C |
His267His |
M0108554 |
GNNFPGNI_00122 |
115845 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
567A>G |
Arg189Arg |
M0108555 |
GNNFPGNI_00121 |
116668 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2780T>C |
None |
M0108556 |
GNNFPGNI_00121 |
116875 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2987G>T |
None |
M0108557 |
GNNFPGNI_00121 |
117057 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3169C>G |
None |
M0108558 |
GNNFPGNI_00121 |
117078 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3190A>C |
None |
M0108559 |
GNNFPGNI_00159 |
141517 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
978A>G |
Glu326Glu |
M0108560 |
GNNFPGNI_00159 |
141541 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
954C>T |
Phe318Phe |
M0108561 |
GNNFPGNI_00159 |
141544 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
951T>C |
Asn317Asn |
M0108562 |
GNNFPGNI_00159 |
141586 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
909G>C |
Ala303Ala |
M0108563 |
GNNFPGNI_00159 |
141598 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
897C>T |
Arg299Arg |
M0108564 |
GNNFPGNI_00159 |
141637 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
858G>C |
Pro286Pro |
M0108565 |
GNNFPGNI_00159 |
141640 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
855G>A |
Pro285Pro |
M0108566 |
GNNFPGNI_00159 |
141643 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
852A>G |
Gly284Gly |
M0108567 |
GNNFPGNI_00159 |
141748 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
747G>C |
Leu249Leu |
M0108568 |
GNNFPGNI_00159 |
141751 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
744C>G |
Leu248Leu |
M0108569 |
GNNFPGNI_00159 |
141779 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
716G>C |
Ser239Thr |
M0108570 |
GNNFPGNI_00159 |
141799 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
696G>A |
Glu232Glu |
M0108571 |
GNNFPGNI_00159 |
142066 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
429C>T |
Asp143Asp |
M0108572 |
GNNFPGNI_00159 |
142069 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Pro142Pro |
M0108573 |
GNNFPGNI_00159 |
142072 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
423G>C |
Leu141Leu |
M0108574 |
GNNFPGNI_00159 |
142084 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
411A>G |
Lys137Lys |
M0108575 |
GNNFPGNI_00159 |
142123 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
372G>C |
Pro124Pro |
M0108576 |
GNNFPGNI_00159 |
142149 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
346G>A |
Ala116Thr |
M0108577 |
GNNFPGNI_00159 |
142156 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
339A>G |
Lys113Lys |
M0108578 |
GNNFPGNI_00159 |
142177 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
318A>G |
Ala106Ala |
M0108579 |
GNNFPGNI_00159 |
142186 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
309C>G |
Arg103Arg |
M0108580 |
GNNFPGNI_00159 |
142195 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
300C>G |
Pro100Pro |
M0108581 |
GNNFPGNI_00159 |
142213 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
282G>A |
Glu94Glu |
M0108582 |
GNNFPGNI_00159 |
142234 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
261T>C |
Ser87Ser |
M0108583 |
GNNFPGNI_00159 |
142240 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
255T>C |
Leu85Leu |
M0108584 |
GNNFPGNI_00159 |
142243 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
252C>G |
Arg84Arg |
M0108585 |
GNNFPGNI_00159 |
142246 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
249A>C |
Arg83Arg |
M0108586 |
GNNFPGNI_00159 |
142297 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
198A>G |
Pro66Pro |
M0108587 |
GNNFPGNI_00152 |
142503 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4807A>T |
None |
M0108588 |
GNNFPGNI_00160 |
142608 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
39C>T |
Asp13Asp |
M0108589 |
GNNFPGNI_00160 |
142650 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
81C>T |
Val27Val |
M0108590 |
GNNFPGNI_00160 |
142668 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
99C>G |
Ala33Ala |
M0108591 |
GNNFPGNI_00160 |
142671 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
102A>G |
Gly34Gly |
M0108592 |
GNNFPGNI_00160 |
142743 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
174T>C |
Ile58Ile |
M0108593 |
GNNFPGNI_00160 |
142746 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
177T>C |
His59His |
M0108594 |
GNNFPGNI_00160 |
142923 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
354C>T |
Tyr118Tyr |
M0108595 |
GNNFPGNI_00160 |
142956 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
387C>T |
Asn129Asn |
M0108596 |
GNNFPGNI_00160 |
142980 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
Asp137Asp |
M0108597 |
GNNFPGNI_00160 |
142987 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
418C>T |
Leu140Leu |
M0108598 |
GNNFPGNI_00160 |
142995 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
426G>C |
Arg142Arg |
M0108599 |
GNNFPGNI_00160 |
143002 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
433G>C |
Ala145Pro |
M0108600 |
GNNFPGNI_00160 |
143004 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
435G>C |
Ala145Ala |
M0108601 |
GNNFPGNI_00161 |
143161 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
516T>C |
Tyr172Tyr |
M0108602 |
GNNFPGNI_00161 |
143182 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
495C>G |
Arg165Arg |
M0108603 |
GNNFPGNI_00161 |
143221 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
456G>A |
Gly152Gly |
M0108604 |
GNNFPGNI_00161 |
143233 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
444T>C |
Gly148Gly |
M0108605 |
GNNFPGNI_00161 |
143237 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
440A>G |
His147Arg |
M0108606 |
GNNFPGNI_00161 |
143239 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
438T>C |
Gly146Gly |
M0108607 |
GNNFPGNI_00161 |
143248 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
429G>A |
Arg143Arg |
M0108608 |
GNNFPGNI_00161 |
143251 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
426C>G |
Ala142Ala |
M0108609 |
GNNFPGNI_00161 |
143260 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
417A>C |
Ala139Ala |
M0108610 |
GNNFPGNI_00161 |
143266 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
Ala137Ala |
M0108611 |
GNNFPGNI_00161 |
143287 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
390A>G |
Gln130Gln |
M0108612 |
GNNFPGNI_00161 |
143557 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Val40Val |
M0108613 |
GNNFPGNI_00161 |
143602 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
75T>G |
Gly25Gly |
M0108614 |
GNNFPGNI_00161 |
143609 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
68A>G |
His23Arg |
M0108615 |
GNNFPGNI_00161 |
143614 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
63G>A |
Gln21Gln |
M0108616 |
GNNFPGNI_00161 |
143621 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
56C>A |
Ala19Glu |
M0108617 |
GNNFPGNI_00161 |
143665 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
12G>C |
Ala4Ala |
M0108618 |
GNNFPGNI_00162 |
143706 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
177G>A |
Gly59Gly |
M0108619 |
GNNFPGNI_00163 |
144248 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
291A>T |
Pro97Pro |
M0108620 |
GNNFPGNI_00163 |
144448 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
91A>G |
Asn31Asp |
M0108621 |
GNNFPGNI_00159 |
145880 |
6 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3386C>T |
None |
M0108622 |
GNNFPGNI_00167 |
146383 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
12A>G |
Glu4Glu |
M0108623 |
GNNFPGNI_00159 |
146399 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3905G>T |
None |
M0108624 |
GNNFPGNI_00159 |
146407 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3913T>C |
None |
M0108625 |
GNNFPGNI_00168 |
146416 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
705A>G |
Ala235Ala |
M0108626 |
GNNFPGNI_00168 |
146439 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
682A>G |
Ile228Val |
M0108627 |
GNNFPGNI_00168 |
146441 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
680G>A |
Gly227Glu |
M0108628 |
GNNFPGNI_00168 |
146445 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
676C>G |
Pro226Ala |
M0108629 |
GNNFPGNI_00168 |
146456 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
665C>T |
Ala222Val |
M0108630 |
GNNFPGNI_00168 |
146467 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
654T>C |
His218His |
M0108631 |
GNNFPGNI_00048 |
48725 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
381T>G |
Arg127Arg |
M0108632 |
GNNFPGNI_00048 |
48749 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
405G>T |
Ala135Ala |
M0108633 |
GNNFPGNI_00048 |
48755 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
411T>C |
Gly137Gly |
M0108634 |
GNNFPGNI_00048 |
48770 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
426T>G |
Arg142Arg |
M0108635 |
GNNFPGNI_00048 |
48791 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
447G>C |
Gly149Gly |
M0108636 |
GNNFPGNI_00048 |
48824 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
480T>C |
Val160Val |
M0108637 |
GNNFPGNI_00048 |
48827 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
483A>G |
Glu161Glu |
M0108638 |
GNNFPGNI_00048 |
48884 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
540T>C |
Asp180Asp |
M0108639 |
GNNFPGNI_00048 |
48887 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
543G>T |
Val181Val |
M0108640 |
GNNFPGNI_00048 |
48908 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
564A>G |
Val188Val |
M0108641 |
GNNFPGNI_00048 |
48923 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
579T>C |
Asp193Asp |
M0108642 |
GNNFPGNI_00048 |
48929 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
585C>G |
Thr195Thr |
M0108643 |
GNNFPGNI_00048 |
48941 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
597T>C |
Gly199Gly |
M0108644 |
GNNFPGNI_00048 |
48983 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
639G>A |
Glu213Glu |
M0108645 |
GNNFPGNI_00048 |
48995 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
651C>A |
Thr217Thr |
M0108646 |
GNNFPGNI_00048 |
49022 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
678T>G |
Ala226Ala |
M0108647 |
GNNFPGNI_00048 |
49026 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
682A>G |
Lys228Glu |
M0108648 |
GNNFPGNI_00048 |
49034 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
690T>A |
Gly230Gly |
M0108649 |
GNNFPGNI_00048 |
49037 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
693C>G |
Pro231Pro |
M0108650 |
GNNFPGNI_00048 |
49043 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
699G>T |
Ala233Ala |
M0108651 |
GNNFPGNI_00048 |
49061 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
717G>C |
Ala239Ala |
M0108652 |
GNNFPGNI_00049 |
49089 |
6 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3A>G |
None |
M0108653 |
GNNFPGNI_00049 |
49092 |
6 |
Skin |
0.03 |
protein_coding |
start_lost |
HIGH |
1A>G |
Met1? |
M0108654 |
GNNFPGNI_00049 |
49346 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
255G>C |
Thr85Thr |
M0108655 |
GNNFPGNI_00049 |
49472 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
381G>A |
Ala127Ala |
M0108656 |
GNNFPGNI_00049 |
49487 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
396G>A |
Ala132Ala |
M0108657 |
GNNFPGNI_00049 |
49490 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
399A>C |
Arg133Arg |
M0108658 |
GNNFPGNI_00049 |
49496 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
405A>T |
Ala135Ala |
M0108659 |
GNNFPGNI_00049 |
49517 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
426G>T |
Ser142Ser |
M0108660 |
GNNFPGNI_00049 |
49523 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
432C>T |
Asp144Asp |
M0108661 |
GNNFPGNI_00049 |
49526 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
435T>G |
Leu145Leu |
M0108662 |
GNNFPGNI_00049 |
49541 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
450T>G |
Pro150Pro |
M0108663 |
GNNFPGNI_00049 |
49583 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
492C>T |
Asp164Asp |
M0108664 |
GNNFPGNI_00049 |
49592 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
501C>T |
Asp167Asp |
M0108665 |
GNNFPGNI_00049 |
49607 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
516G>C |
Ala172Ala |
M0108666 |
GNNFPGNI_00049 |
49619 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
528T>C |
Ala176Ala |
M0108667 |
GNNFPGNI_00049 |
49622 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
531G>T |
Ala177Ala |
M0108668 |
GNNFPGNI_00049 |
49625 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
534T>C |
Gly178Gly |
M0108669 |
GNNFPGNI_00049 |
49628 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
537T>G |
Ala179Ala |
M0108670 |
GNNFPGNI_00049 |
49637 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
546A>G |
Ala182Ala |
M0108671 |
GNNFPGNI_00049 |
49646 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
555G>C |
Leu185Leu |
M0108672 |
GNNFPGNI_00049 |
49679 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
588G>A |
Val196Val |
M0108673 |
GNNFPGNI_00049 |
49682 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
591C>T |
Pro197Pro |
M0108674 |
GNNFPGNI_00049 |
49691 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
600C>T |
Asp200Asp |
M0108675 |
GNNFPGNI_00049 |
49724 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
633C>G |
Pro211Pro |
M0108676 |
GNNFPGNI_00049 |
49736 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
645G>C |
Leu215Leu |
M0108677 |
GNNFPGNI_00049 |
49757 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
666T>C |
Gly222Gly |
M0108678 |
GNNFPGNI_00049 |
49759 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
668T>C |
Val223Ala |
M0108679 |
GNNFPGNI_00049 |
49763 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
672T>C |
Asp224Asp |
M0108680 |
GNNFPGNI_00049 |
49764 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
673A>G |
Ser225Gly |
M0108681 |
GNNFPGNI_00049 |
49766 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
675C>T |
Ser225Ser |
M0108682 |
GNNFPGNI_00049 |
49784 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
693G>T |
Pro231Pro |
M0108683 |
GNNFPGNI_00049 |
49790 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
699T>C |
Asn233Asn |
M0108684 |
GNNFPGNI_00049 |
50606 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1515C>T |
Thr505Thr |
M0108685 |
GNNFPGNI_00049 |
50753 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1662G>C |
Ala554Ala |
M0108686 |
GNNFPGNI_00041 |
44116 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1917G>A |
Met639Ile |
M0108687 |
GNNFPGNI_00041 |
44284 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2085C>T |
Gly695Gly |
M0108688 |
GNNFPGNI_00041 |
44443 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2244A>G |
Lys748Lys |
M0108689 |
GNNFPGNI_00041 |
44461 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2262T>C |
Asp754Asp |
M0108690 |
GNNFPGNI_00041 |
44518 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2319C>G |
Ser773Ser |
M0108691 |
GNNFPGNI_00041 |
44519 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2320T>C |
Leu774Leu |
M0108692 |
GNNFPGNI_00041 |
44626 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2427G>C |
Ser809Ser |
M0108693 |
GNNFPGNI_00041 |
44665 |
16 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
2466G>C |
Glu822Asp |
M0108694 |
GNNFPGNI_00041 |
44674 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2475C>T |
Cys825Cys |
M0108695 |
GNNFPGNI_00041 |
44695 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2496G>A |
Glu832Glu |
M0108696 |
GNNFPGNI_00041 |
44722 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2523A>C |
Arg841Arg |
M0108697 |
GNNFPGNI_00042 |
44778 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
18T>C |
His6His |
M0108698 |
GNNFPGNI_00042 |
44792 |
15 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
32A>G |
His11Arg |
M0108699 |
GNNFPGNI_00042 |
44793 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
33C>T |
His11His |
M0108700 |
GNNFPGNI_00042 |
44794 |
15 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
34G>A |
Ala12Thr |
M0108701 |
GNNFPGNI_00042 |
44800 |
15 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
40G>A |
Ala14Thr |
M0108702 |
GNNFPGNI_00042 |
44802 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
42T>C |
Ala14Ala |
M0108703 |
GNNFPGNI_00042 |
44853 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Tyr31Tyr |
M0108704 |
GNNFPGNI_00042 |
44860 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
100C>T |
Leu34Leu |
M0108705 |
GNNFPGNI_00042 |
44865 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
105C>G |
Arg35Arg |
M0108706 |
GNNFPGNI_00042 |
44907 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
147T>C |
Gly49Gly |
M0108707 |
GNNFPGNI_00042 |
44934 |
15 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
174C>A |
Leu58Leu |
M0108708 |
GNNFPGNI_00042 |
45009 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
249G>A |
Ala83Ala |
M0108709 |
GNNFPGNI_00043 |
45156 |
14 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
29C>T |
Ala10Val |
M0108710 |
GNNFPGNI_00043 |
45173 |
14 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
46G>C |
Glu16Gln |
M0108711 |
GNNFPGNI_00043 |
45184 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
57C>T |
Ala19Ala |
M0108712 |
GNNFPGNI_00043 |
45190 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
63G>C |
Ala21Ala |
M0108713 |
GNNFPGNI_00043 |
45205 |
14 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
78G>T |
Glu26Asp |
M0108714 |
GNNFPGNI_00043 |
45211 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
84G>T |
Ala28Ala |
M0108715 |
GNNFPGNI_00043 |
45217 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
90C>T |
Gly30Gly |
M0108716 |
GNNFPGNI_00043 |
45229 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
102G>C |
Arg34Arg |
M0108717 |
GNNFPGNI_00043 |
45250 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
123A>G |
Val41Val |
M0108718 |
GNNFPGNI_00043 |
45253 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
126C>T |
Asp42Asp |
M0108719 |
GNNFPGNI_00043 |
45256 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
129A>C |
Arg43Arg |
M0108720 |
GNNFPGNI_00043 |
45271 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
144G>C |
Gly48Gly |
M0108721 |
GNNFPGNI_00043 |
45316 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
189G>A |
Val63Val |
M0108722 |
GNNFPGNI_00043 |
45322 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
195G>C |
Leu65Leu |
M0108723 |
GNNFPGNI_00043 |
45352 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
225G>T |
Leu75Leu |
M0108724 |
GNNFPGNI_00043 |
45436 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
309T>C |
Asn103Asn |
M0108725 |
GNNFPGNI_00043 |
45439 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
312T>C |
Gly104Gly |
M0108726 |
GNNFPGNI_00043 |
45448 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
321G>A |
Gln107Gln |
M0108727 |
GNNFPGNI_00043 |
45472 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
345G>C |
Ala115Ala |
M0108728 |
GNNFPGNI_00043 |
45481 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
354G>C |
Ser118Ser |
M0108729 |
GNNFPGNI_00043 |
45526 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
399T>C |
Thr133Thr |
M0108730 |
GNNFPGNI_00043 |
45547 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
420G>C |
Val140Val |
M0108731 |
GNNFPGNI_00043 |
45550 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
423G>C |
Leu141Leu |
M0108732 |
GNNFPGNI_00043 |
45604 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
477T>C |
Arg159Arg |
M0108733 |
GNNFPGNI_00043 |
45670 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
543G>A |
Gln181Gln |
M0108734 |
GNNFPGNI_00044 |
45836 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
45C>T |
Ala15Ala |
M0108735 |
GNNFPGNI_00044 |
45838 |
13 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
47A>C |
His16Pro |
M0108736 |
GNNFPGNI_00044 |
45875 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
84A>C |
Arg28Arg |
M0108737 |
GNNFPGNI_00044 |
45959 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
168G>C |
Ala56Ala |
M0108738 |
GNNFPGNI_00044 |
45974 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
183C>G |
Thr61Thr |
M0108739 |
GNNFPGNI_00044 |
45995 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
204C>G |
Ala68Ala |
M0108740 |
GNNFPGNI_00044 |
46043 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
252A>G |
Val84Val |
M0108741 |
GNNFPGNI_00044 |
46049 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
258G>C |
Ala86Ala |
M0108742 |
GNNFPGNI_00044 |
46106 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
315T>C |
Phe105Phe |
M0108743 |
GNNFPGNI_00044 |
46154 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
363C>G |
Gly121Gly |
M0108744 |
GNNFPGNI_00044 |
46176 |
12 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
385G>A |
Glu129Lys |
M0108745 |
GNNFPGNI_00044 |
46199 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
408T>C |
Val136Val |
M0108746 |
GNNFPGNI_00044 |
46208 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
417C>G |
Ala139Ala |
M0108747 |
GNNFPGNI_00044 |
46229 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
438T>C |
Arg146Arg |
M0108748 |
GNNFPGNI_00044 |
46238 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
447A>G |
Glu149Glu |
M0108749 |
GNNFPGNI_00044 |
46253 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
462G>A |
Gly154Gly |
M0108750 |
GNNFPGNI_00044 |
46262 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
471A>G |
Gly157Gly |
M0108751 |
GNNFPGNI_00044 |
46265 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
474G>C |
Arg158Arg |
M0108752 |
GNNFPGNI_00044 |
46268 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
477G>T |
Val159Val |
M0108753 |
GNNFPGNI_00044 |
46274 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
483A>G |
Glu161Glu |
M0108754 |
GNNFPGNI_00044 |
46277 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
486T>C |
Gly162Gly |
M0108755 |
GNNFPGNI_00044 |
46298 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
507G>A |
Ala169Ala |
M0108756 |
GNNFPGNI_00044 |
46340 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
549C>T |
Phe183Phe |
M0108757 |
GNNFPGNI_00044 |
46373 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
582A>G |
Thr194Thr |
M0108758 |
GNNFPGNI_00044 |
46376 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
585C>G |
Pro195Pro |
M0108759 |
GNNFPGNI_00045 |
46402 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
21C>T |
Leu7Leu |
M0108760 |
GNNFPGNI_00045 |
46408 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
27T>C |
Gly9Gly |
M0108761 |
GNNFPGNI_00045 |
46414 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
33G>C |
Thr11Thr |
M0108762 |
GNNFPGNI_00045 |
46451 |
12 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
70G>A |
Val24Ile |
M0108763 |
GNNFPGNI_00045 |
46519 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
138C>T |
Asp46Asp |
M0108764 |
GNNFPGNI_00045 |
46537 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
156C>T |
Asp52Asp |
M0108765 |
GNNFPGNI_00045 |
46539 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
158C>T |
Thr53Ile |
M0108766 |
GNNFPGNI_00045 |
46541 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
160A>C |
Arg54Arg |
M0108767 |
GNNFPGNI_00045 |
46546 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
165C>G |
Leu55Leu |
M0108768 |
GNNFPGNI_00045 |
46579 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
198T>C |
Arg66Arg |
M0108769 |
GNNFPGNI_00045 |
46594 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
213C>G |
Leu71Leu |
M0108770 |
GNNFPGNI_00045 |
46597 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
216C>T |
Arg72Arg |
M0108771 |
GNNFPGNI_00045 |
46600 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
219G>A |
Glu73Glu |
M0108772 |
GNNFPGNI_00045 |
46603 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
222G>A |
Lys74Lys |
M0108773 |
GNNFPGNI_00045 |
46612 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
231G>A |
Glu77Glu |
M0108774 |
GNNFPGNI_00045 |
46615 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Arg78Arg |
M0108775 |
GNNFPGNI_00045 |
46618 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
237G>C |
Val79Val |
M0108776 |
GNNFPGNI_00045 |
46630 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
249T>C |
Ile83Ile |
M0108777 |
GNNFPGNI_00045 |
46633 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
252G>C |
Pro84Pro |
M0108778 |
GNNFPGNI_00045 |
46705 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
324T>C |
Asp108Asp |
M0108779 |
GNNFPGNI_00045 |
46750 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
369C>G |
Arg123Arg |
M0108780 |
GNNFPGNI_00045 |
46762 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
381C>G |
Leu127Leu |
M0108781 |
GNNFPGNI_00045 |
46795 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
414C>T |
Phe138Phe |
M0108782 |
GNNFPGNI_00045 |
46807 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
426T>C |
Arg142Arg |
M0108783 |
GNNFPGNI_00045 |
46894 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
513T>C |
Arg171Arg |
M0108784 |
GNNFPGNI_00045 |
47024 |
12 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
643C>T |
Pro215Ser |
M0108785 |
GNNFPGNI_00046 |
47052 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
15C>T |
Asp5Asp |
M0108786 |
GNNFPGNI_00046 |
47055 |
12 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
18G>T |
Met6Ile |
M0108787 |
GNNFPGNI_00046 |
47132 |
12 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
95C>G |
Ala32Gly |
M0108788 |
GNNFPGNI_00046 |
47141 |
12 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
104C>T |
Thr35Ile |
M0108789 |
GNNFPGNI_00046 |
47172 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
135C>G |
Ala45Ala |
M0108790 |
GNNFPGNI_00046 |
47174 |
12 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
137C>T |
Ala46Val |
M0108791 |
GNNFPGNI_00046 |
47215 |
12 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
178A>C |
Met60Leu |
M0108792 |
GNNFPGNI_00046 |
47232 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
195C>G |
Leu65Leu |
M0108793 |
GNNFPGNI_00046 |
47241 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
204C>G |
Val68Val |
M0108794 |
GNNFPGNI_00046 |
47250 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Ile71Ile |
M0108795 |
GNNFPGNI_00046 |
47262 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
225C>G |
Arg75Arg |
M0108796 |
GNNFPGNI_00046 |
47274 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
237C>T |
Ala79Ala |
M0108797 |
GNNFPGNI_00046 |
47280 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
243C>T |
Leu81Leu |
M0108798 |
GNNFPGNI_00046 |
47286 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
249G>A |
Ala83Ala |
M0108799 |
GNNFPGNI_00047 |
47340 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
19G>A |
Ala7Thr |
M0108800 |
GNNFPGNI_00047 |
47342 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
21T>C |
Ala7Ala |
M0108801 |
GNNFPGNI_00047 |
47346 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
25T>C |
Phe9Leu |
M0108802 |
GNNFPGNI_00047 |
47357 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
36T>C |
Ile12Ile |
M0108803 |
GNNFPGNI_00047 |
47453 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
132T>C |
Cys44Cys |
M0108804 |
GNNFPGNI_00047 |
47477 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
156G>C |
Gly52Gly |
M0108805 |
GNNFPGNI_00047 |
47495 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
174A>G |
Gly58Gly |
M0108806 |
GNNFPGNI_00047 |
47534 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
213C>T |
Cys71Cys |
M0108807 |
GNNFPGNI_00047 |
47537 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
216A>G |
Ala72Ala |
M0108808 |
GNNFPGNI_00047 |
47585 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
264G>A |
Glu88Glu |
M0108809 |
GNNFPGNI_00047 |
47612 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
291A>C |
Thr97Thr |
M0108810 |
GNNFPGNI_00047 |
47624 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
303T>C |
Cys101Cys |
M0108811 |
GNNFPGNI_00047 |
47633 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Asn104Asn |
M0108812 |
GNNFPGNI_00047 |
47636 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
315G>C |
Leu105Leu |
M0108813 |
GNNFPGNI_00047 |
47642 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
321G>A |
Gly107Gly |
M0108814 |
GNNFPGNI_00047 |
47708 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
387G>T |
Gly129Gly |
M0108815 |
GNNFPGNI_00047 |
47795 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
474C>T |
Cys158Cys |
M0108816 |
GNNFPGNI_00047 |
47801 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
480G>A |
Glu160Glu |
M0108817 |
GNNFPGNI_00047 |
47807 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
486C>G |
Ala162Ala |
M0108818 |
GNNFPGNI_00047 |
47891 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
570G>A |
Ala190Ala |
M0108819 |
GNNFPGNI_00047 |
47939 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
618G>C |
Val206Val |
M0108820 |
GNNFPGNI_00047 |
47951 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
630T>G |
Ala210Ala |
M0108821 |
GNNFPGNI_00047 |
48032 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
711T>C |
His237His |
M0108822 |
GNNFPGNI_00047 |
48050 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
729T>G |
Ser243Ser |
M0108823 |
GNNFPGNI_00047 |
48056 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
735C>T |
Arg245Arg |
M0108824 |
GNNFPGNI_00047 |
48062 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
741A>G |
Ala247Ala |
M0108825 |
GNNFPGNI_00047 |
48074 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
753G>C |
Leu251Leu |
M0108826 |
GNNFPGNI_00047 |
48116 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
795G>T |
Ala265Ala |
M0108827 |
GNNFPGNI_00047 |
48257 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
936T>C |
Asp312Asp |
M0108828 |
GNNFPGNI_00048 |
48339 |
6 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-6C>T |
None |
M0108829 |
GNNFPGNI_00048 |
48362 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
18C>T |
Leu6Leu |
M0108830 |
GNNFPGNI_00048 |
48377 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
33T>C |
Ile11Ile |
M0108831 |
GNNFPGNI_00048 |
48389 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
45G>C |
Gly15Gly |
M0108832 |
GNNFPGNI_00048 |
48401 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
57G>C |
Ala19Ala |
M0108833 |
GNNFPGNI_00048 |
48485 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
141G>C |
Leu47Leu |
M0108834 |
GNNFPGNI_00048 |
48491 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Asn49Asn |
M0108835 |
GNNFPGNI_00048 |
48497 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
153A>C |
Val51Val |
M0108836 |
GNNFPGNI_00048 |
48503 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
159G>C |
Arg53Arg |
M0108837 |
GNNFPGNI_00048 |
48539 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
195C>G |
Val65Val |
M0108838 |
GNNFPGNI_00048 |
48583 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
239G>A |
Ser80Asn |
M0108839 |
GNNFPGNI_00048 |
48592 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
248C>G |
Thr83Arg |
M0108840 |
GNNFPGNI_00048 |
48605 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
261G>C |
Gly87Gly |
M0108841 |
GNNFPGNI_00048 |
48642 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
298A>G |
Thr100Ala |
M0108842 |
GNNFPGNI_00048 |
48657 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
313A>G |
Asn105Asp |
M0108843 |
GNNFPGNI_00048 |
48658 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
314A>C |
Asn105Thr |
M0108844 |
GNNFPGNI_00048 |
48662 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
318G>A |
Gln106Gln |
M0108845 |
GNNFPGNI_00049 |
49188 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
97G>A |
Val33Ile |
M0108846 |
GNNFPGNI_00049 |
49189 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
98T>C |
Val33Ala |
M0108847 |
GNNFPGNI_00147 |
133149 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
99G>C |
Thr33Thr |
M0108848 |
GNNFPGNI_00147 |
133240 |
11 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
8C>T |
Ser3Leu |
M0108849 |
GNNFPGNI_00140 |
133252 |
11 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4281A>G |
None |
M0108850 |
GNNFPGNI_00140 |
133264 |
12 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4293A>C |
None |
M0108851 |
GNNFPGNI_00148 |
133313 |
13 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
944G>A |
Arg315Gln |
M0108852 |
GNNFPGNI_00148 |
133396 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
861C>G |
Ala287Ala |
M0108853 |
GNNFPGNI_00148 |
133405 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
852T>C |
Asp284Asp |
M0108854 |
GNNFPGNI_00148 |
133417 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
840C>A |
Ile280Ile |
M0108855 |
GNNFPGNI_00148 |
133429 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
828G>A |
Pro276Pro |
M0108856 |
GNNFPGNI_00148 |
133447 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
810G>C |
Arg270Arg |
M0108857 |
GNNFPGNI_00148 |
133462 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
795T>C |
Ala265Ala |
M0108858 |
GNNFPGNI_00148 |
133477 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
780G>A |
Glu260Glu |
M0108859 |
GNNFPGNI_00148 |
133507 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
750G>C |
Pro250Pro |
M0108860 |
GNNFPGNI_00148 |
133555 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
702A>G |
Arg234Arg |
M0108861 |
GNNFPGNI_00148 |
133564 |
11 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
693C>A |
Ala231Ala |
M0108862 |
GNNFPGNI_00148 |
133591 |
11 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
666A>G |
Arg222Arg |
M0108863 |
GNNFPGNI_00071 |
70447 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
459T>C |
Ala153Ala |
M0108864 |
GNNFPGNI_00109 |
104234 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
501T>G |
Thr167Thr |
M0108865 |
GNNFPGNI_00181 |
165351 |
10 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-161A>G |
None |
M0108866 |
GNNFPGNI_00182 |
168004 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1566T>C |
Asp522Asp |
M0108867 |
GNNFPGNI_00182 |
170885 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1316T>A |
None |
M0108868 |
GNNFPGNI_00184 |
171077 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
477G>T |
Ala159Ala |
M0108869 |
GNNFPGNI_00182 |
171598 |
8 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2029G>A |
None |
M0108870 |
GNNFPGNI_00182 |
171701 |
7 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2132G>A |
None |
M0108871 |
GNNFPGNI_00186 |
172863 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
73T>G |
Phe25Val |
M0108872 |
GNNFPGNI_00127 |
119364 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
912T>A |
Arg304Arg |
M0108873 |
GNNFPGNI_00127 |
119369 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
907T>C |
Leu303Leu |
M0108874 |
GNNFPGNI_00127 |
119376 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
900T>G |
Ala300Ala |
M0108875 |
GNNFPGNI_00148 |
134122 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
135G>C |
Leu45Leu |
M0108876 |
GNNFPGNI_00148 |
134128 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
129C>G |
Leu43Leu |
M0108877 |
GNNFPGNI_00148 |
134134 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
123T>C |
Pro41Pro |
M0108878 |
GNNFPGNI_00148 |
134158 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
99G>A |
Glu33Glu |
M0108879 |
GNNFPGNI_00149 |
134370 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
78G>A |
Ala26Ala |
M0108880 |
GNNFPGNI_00150 |
135576 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
571G>C |
Val191Leu |
M0108881 |
GNNFPGNI_00150 |
135580 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
567C>T |
Val189Val |
M0108882 |
GNNFPGNI_00181 |
163258 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1933A>T |
Ile645Phe |
M0108883 |
GNNFPGNI_00181 |
163259 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1932A>G |
Ala644Ala |
M0108884 |
GNNFPGNI_00181 |
163268 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1923C>T |
Ala641Ala |
M0108885 |
GNNFPGNI_00181 |
163272 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1919G>A |
Gly640Asp |
M0108886 |
GNNFPGNI_00181 |
163278 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1913T>C |
Val638Ala |
M0108887 |
GNNFPGNI_00181 |
163289 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1902T>C |
Asp634Asp |
M0108888 |
GNNFPGNI_00181 |
163328 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1863C>A |
Asp621Glu |
M0108889 |
GNNFPGNI_00181 |
165029 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
162A>C |
Ile54Ile |
M0108890 |
GNNFPGNI_00113 |
106289 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
991A>C |
Arg331Arg |
M0108891 |
GNNFPGNI_00026 |
35687 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3619C>T |
None |
M0108892 |
GNNFPGNI_00031 |
35842 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Tyr31Tyr |
M0108893 |
GNNFPGNI_00031 |
35899 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
36G>A |
Leu12Leu |
M0108894 |
GNNFPGNI_00032 |
36450 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
16G>A |
Asp6Asn |
M0108895 |
GNNFPGNI_00033 |
36526 |
3 |
Skin |
0.02 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
409T>A |
Ter137Lysext*? |
M0108896 |
GNNFPGNI_00033 |
36554 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
381A>G |
Ala127Ala |
M0108897 |
GNNFPGNI_00033 |
36737 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
198A>G |
Glu66Glu |
M0108898 |
GNNFPGNI_00033 |
36757 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
178C>T |
Leu60Leu |
M0108899 |
GNNFPGNI_00033 |
36920 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
15T>C |
Arg5Arg |
M0108900 |
GNNFPGNI_00035 |
37833 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
252A>G |
Thr84Thr |
M0108901 |
GNNFPGNI_00036 |
38265 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
399C>T |
Asp133Asp |
M0108902 |
GNNFPGNI_00036 |
38266 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
400A>C |
Thr134Pro |
M0108903 |
GNNFPGNI_00037 |
38885 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
435T>C |
Asn145Asn |
M0108904 |
GNNFPGNI_00039 |
41366 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
767G>A |
Arg256Lys |
M0108905 |
GNNFPGNI_00040 |
41636 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
228C>T |
Thr76Thr |
M0108906 |
GNNFPGNI_00040 |
41645 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
237C>T |
Ser79Ser |
M0108907 |
GNNFPGNI_00040 |
41693 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
285G>T |
Gly95Gly |
M0108908 |
GNNFPGNI_00040 |
41696 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
288A>T |
Gly96Gly |
M0108909 |
GNNFPGNI_00040 |
41798 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
390C>G |
Ala130Ala |
M0108910 |
GNNFPGNI_00040 |
41801 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
393G>T |
Ala131Ala |
M0108911 |
GNNFPGNI_00040 |
41807 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
399G>C |
Arg133Arg |
M0108912 |
GNNFPGNI_00040 |
41813 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
405T>C |
His135His |
M0108913 |
GNNFPGNI_00040 |
41819 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
411G>C |
Thr137Thr |
M0108914 |
GNNFPGNI_00040 |
41825 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
417G>C |
Val139Val |
M0108915 |
GNNFPGNI_00040 |
41888 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
480C>T |
Leu160Leu |
M0108916 |
GNNFPGNI_00040 |
42004 |
12 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
596T>C |
Val199Ala |
M0108917 |
GNNFPGNI_00040 |
42005 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
597T>C |
Val199Val |
M0108918 |
GNNFPGNI_00040 |
42035 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
627G>A |
Pro209Pro |
M0108919 |
GNNFPGNI_00040 |
42098 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
690C>G |
Val230Val |
M0108920 |
GNNFPGNI_00040 |
42125 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
717G>T |
Ala239Ala |
M0108921 |
GNNFPGNI_00040 |
42126 |
12 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
718C>T |
Pro240Ser |
M0108922 |
GNNFPGNI_00040 |
42147 |
12 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
739G>A |
Ala247Thr |
M0108923 |
GNNFPGNI_00040 |
42155 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
747C>T |
Gly249Gly |
M0108924 |
GNNFPGNI_00040 |
42161 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
753T>C |
Arg251Arg |
M0108925 |
GNNFPGNI_00041 |
42253 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
54T>C |
Asp18Asp |
M0108926 |
GNNFPGNI_00041 |
42265 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
66G>C |
Pro22Pro |
M0108927 |
GNNFPGNI_00041 |
42304 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
105C>T |
Tyr35Tyr |
M0108928 |
GNNFPGNI_00041 |
42376 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
177A>G |
Pro59Pro |
M0108929 |
GNNFPGNI_00041 |
42377 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
178T>C |
Leu60Leu |
M0108930 |
GNNFPGNI_00041 |
42379 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
180G>C |
Leu60Phe |
M0108931 |
GNNFPGNI_00041 |
42385 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
Gly62Gly |
M0108932 |
GNNFPGNI_00041 |
42403 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
204C>G |
Gly68Gly |
M0108933 |
GNNFPGNI_00041 |
42415 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
216A>G |
Ala72Ala |
M0108934 |
GNNFPGNI_00041 |
42436 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
237G>C |
Val79Val |
M0108935 |
GNNFPGNI_00041 |
42439 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
240C>G |
Pro80Pro |
M0108936 |
GNNFPGNI_00041 |
42451 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
252C>G |
Arg84Arg |
M0108937 |
GNNFPGNI_00041 |
42458 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
259T>C |
Leu87Leu |
M0108938 |
GNNFPGNI_00041 |
42466 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
267C>A |
Ala89Ala |
M0108939 |
GNNFPGNI_00041 |
42481 |
11 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
282C>T |
Arg94Arg |
M0108940 |
GNNFPGNI_00041 |
42559 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
360A>G |
Arg120Arg |
M0108941 |
GNNFPGNI_00041 |
42574 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
375C>T |
Arg125Arg |
M0108942 |
GNNFPGNI_00041 |
42589 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
390G>A |
Val130Val |
M0108943 |
GNNFPGNI_00041 |
42655 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
456C>T |
Arg152Arg |
M0108944 |
GNNFPGNI_00041 |
42661 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
462C>G |
Gly154Gly |
M0108945 |
GNNFPGNI_00041 |
42670 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
471G>A |
Thr157Thr |
M0108946 |
GNNFPGNI_00041 |
42673 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
474C>G |
Pro158Pro |
M0108947 |
GNNFPGNI_00041 |
42691 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
492T>C |
Val164Val |
M0108948 |
GNNFPGNI_00041 |
42712 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
513C>G |
Thr171Thr |
M0108949 |
GNNFPGNI_00041 |
43573 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1374C>T |
Pro458Pro |
M0108950 |
GNNFPGNI_00041 |
43654 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1455C>G |
Val485Val |
M0108951 |
GNNFPGNI_00041 |
43759 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1560C>T |
Asn520Asn |
M0108952 |
GNNFPGNI_00041 |
43771 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1572T>C |
Phe524Phe |
M0108953 |
GNNFPGNI_00041 |
44215 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2016G>C |
Thr672Thr |
M0108954 |
GNNFPGNI_00041 |
44224 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2025G>C |
Arg675Arg |
M0108955 |
GNNFPGNI_00043 |
45433 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
306C>T |
Ser102Ser |
M0108956 |
GNNFPGNI_00043 |
45632 |
11 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
505G>A |
Ala169Thr |
M0108957 |
GNNFPGNI_00127 |
124774 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4499A>G |
None |
M0108958 |
GNNFPGNI_00135 |
125594 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
483G>A |
Ala161Ala |
M0108959 |
GNNFPGNI_00135 |
125702 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
375G>A |
Lys125Lys |
M0108960 |
GNNFPGNI_00135 |
125720 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
357G>C |
Thr119Thr |
M0108961 |
GNNFPGNI_00135 |
125729 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
348A>C |
Gln116His |
M0108962 |
GNNFPGNI_00135 |
125741 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
336C>A |
Phe112Leu |
M0108963 |
GNNFPGNI_00135 |
125875 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
202A>T |
Thr68Ser |
M0108964 |
GNNFPGNI_00135 |
125909 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
168G>C |
Ala56Ala |
M0108965 |
GNNFPGNI_00136 |
126330 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
379C>G |
His127Asp |
M0108966 |
GNNFPGNI_00136 |
126705 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
4C>T |
His2Tyr |
M0108967 |
GNNFPGNI_00139 |
127612 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
216C>T |
Asp72Asp |
M0108968 |
GNNFPGNI_00139 |
127636 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
192C>T |
Arg64Arg |
M0108969 |
GNNFPGNI_00139 |
127639 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
189C>G |
Pro63Pro |
M0108970 |
GNNFPGNI_00139 |
127657 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
171C>G |
Ser57Ser |
M0108971 |
GNNFPGNI_00139 |
127658 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
170C>A |
Ser57Tyr |
M0108972 |
GNNFPGNI_00139 |
127659 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
169T>A |
Ser57Thr |
M0108973 |
GNNFPGNI_00139 |
127678 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
150C>G |
Val50Val |
M0108974 |
GNNFPGNI_00142 |
129802 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
447G>C |
Thr149Thr |
M0108975 |
GNNFPGNI_00142 |
129822 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
427G>T |
Val143Phe |
M0108976 |
GNNFPGNI_00142 |
129826 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
423C>T |
Phe141Phe |
M0108977 |
GNNFPGNI_00142 |
129846 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
403C>G |
Leu135Val |
M0108978 |
GNNFPGNI_00142 |
129919 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
330C>T |
Pro110Pro |
M0108979 |
GNNFPGNI_00142 |
129926 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
323A>G |
Glu108Gly |
M0108980 |
GNNFPGNI_00142 |
130179 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
70A>G |
Asn24Asp |
M0108981 |
GNNFPGNI_00142 |
130189 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
60C>G |
Gly20Gly |
M0108982 |
GNNFPGNI_00142 |
130204 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
45T>C |
Asp15Asp |
M0108983 |
GNNFPGNI_00142 |
130207 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
42G>A |
Glu14Glu |
M0108984 |
GNNFPGNI_00142 |
130237 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
12T>C |
Phe4Phe |
M0108985 |
GNNFPGNI_00142 |
130243 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
6A>T |
Pro2Pro |
M0108986 |
GNNFPGNI_00134 |
130311 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4928T>C |
None |
M0108987 |
GNNFPGNI_00134 |
130312 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4929G>A |
None |
M0108988 |
GNNFPGNI_00143 |
130334 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
294G>A |
Lys98Lys |
M0108989 |
GNNFPGNI_00147 |
133118 |
6 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
130A>T |
Thr44Ser |
M0108990 |
GNNFPGNI_00148 |
133573 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
684G>A |
Glu228Glu |
M0108991 |
GNNFPGNI_00148 |
133625 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
632G>A |
Ser211Asn |
M0108992 |
GNNFPGNI_00148 |
133626 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
631A>G |
Ser211Gly |
M0108993 |
GNNFPGNI_00148 |
133633 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
624C>T |
Asn208Asn |
M0108994 |
GNNFPGNI_00148 |
133666 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
591A>C |
Pro197Pro |
M0108995 |
GNNFPGNI_00148 |
133804 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
453A>T |
Gly151Gly |
M0108996 |
GNNFPGNI_00148 |
133828 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
429T>C |
Val143Val |
M0108997 |
GNNFPGNI_00148 |
133852 |
13 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
405T>A |
Ala135Ala |
M0108998 |
GNNFPGNI_00148 |
133909 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
348A>G |
Lys116Lys |
M0108999 |
GNNFPGNI_00154 |
139039 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
431C>A |
Thr144Asn |
M0109000 |
GNNFPGNI_00154 |
139040 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
430A>G |
Thr144Ala |
M0109001 |
GNNFPGNI_00162 |
143856 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
27A>G |
Thr9Thr |
M0109002 |
GNNFPGNI_00162 |
143865 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
18G>C |
Pro6Pro |
M0109003 |
GNNFPGNI_00163 |
143942 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
597T>C |
Thr199Thr |
M0109004 |
GNNFPGNI_00165 |
145356 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Asp36Asp |
M0109005 |
GNNFPGNI_00165 |
145455 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
9T>C |
Asp3Asp |
M0109006 |
GNNFPGNI_00168 |
146447 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
674C>T |
Ala225Val |
M0109007 |
GNNFPGNI_00168 |
146929 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
192G>T |
Ala64Ala |
M0109008 |
GNNFPGNI_00168 |
146938 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
183T>C |
Gly61Gly |
M0109009 |
GNNFPGNI_00168 |
146950 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
171T>C |
Asp57Asp |
M0109010 |
GNNFPGNI_00145 |
131301 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
521C>T |
Thr174Met |
M0109011 |
GNNFPGNI_00135 |
126008 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
69C>G |
Pro23Pro |
M0109012 |
GNNFPGNI_00139 |
127516 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
312A>C |
Arg104Arg |
M0109013 |
GNNFPGNI_00148 |
133738 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
519C>T |
Tyr173Tyr |
M0109014 |
GNNFPGNI_00148 |
133741 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
516G>A |
Glu172Glu |
M0109015 |
GNNFPGNI_00148 |
133743 |
14 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
514G>C |
Glu172Gln |
M0109016 |
GNNFPGNI_00145 |
136216 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4395A>G |
None |
M0109017 |
GNNFPGNI_00145 |
136221 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4400C>G |
None |
M0109018 |
GNNFPGNI_00049 |
51089 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1998C>G |
Arg666Arg |
M0109019 |
GNNFPGNI_00049 |
51095 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2004T>C |
Asp668Asp |
M0109020 |
GNNFPGNI_00049 |
51173 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2082A>G |
Ser694Ser |
M0109021 |
GNNFPGNI_00049 |
51209 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2118G>C |
Glu706Asp |
M0109022 |
GNNFPGNI_00049 |
51220 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2129A>G |
Asn710Ser |
M0109023 |
GNNFPGNI_00049 |
51222 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2131C>A |
Gln711Lys |
M0109024 |
GNNFPGNI_00050 |
51241 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
18T>A |
His6Gln |
M0109025 |
GNNFPGNI_00050 |
51259 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
36G>C |
Pro12Pro |
M0109026 |
GNNFPGNI_00050 |
51271 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
48T>G |
Leu16Leu |
M0109027 |
GNNFPGNI_00050 |
51286 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
63C>T |
Phe21Phe |
M0109028 |
GNNFPGNI_00050 |
51292 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
69G>C |
Val23Val |
M0109029 |
GNNFPGNI_00050 |
51301 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
78A>G |
Ala26Ala |
M0109030 |
GNNFPGNI_00050 |
51337 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
114C>T |
Leu38Leu |
M0109031 |
GNNFPGNI_00050 |
51373 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
150C>G |
Leu50Leu |
M0109032 |
GNNFPGNI_00050 |
51379 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
156C>G |
Val52Val |
M0109033 |
GNNFPGNI_00051 |
52289 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
657C>G |
Val219Val |
M0109034 |
GNNFPGNI_00052 |
53653 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1113C>G |
Leu371Leu |
M0109035 |
GNNFPGNI_00052 |
53674 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1134G>C |
Thr378Thr |
M0109036 |
GNNFPGNI_00052 |
53702 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1162C>T |
Leu388Leu |
M0109037 |
GNNFPGNI_00052 |
53758 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1218G>A |
Ala406Ala |
M0109038 |
GNNFPGNI_00060 |
60844 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
117C>T |
Leu39Leu |
M0109039 |
GNNFPGNI_00034 |
37412 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
195C>G |
Leu65Leu |
M0109040 |
GNNFPGNI_00034 |
37415 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
198G>C |
Ala66Ala |
M0109041 |
GNNFPGNI_00153 |
138878 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
21C>T |
Ile7Ile |
M0109042 |
GNNFPGNI_00153 |
138887 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
12T>C |
Val4Val |
M0109043 |
GNNFPGNI_00148 |
138903 |
9 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4647G>A |
None |
M0109044 |
GNNFPGNI_00154 |
138924 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
546T>C |
Asp182Asp |
M0109045 |
GNNFPGNI_00154 |
138933 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
537C>T |
Pro179Pro |
M0109046 |
GNNFPGNI_00154 |
138936 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
534G>C |
Pro178Pro |
M0109047 |
GNNFPGNI_00154 |
138945 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
525C>T |
Asp175Asp |
M0109048 |
GNNFPGNI_00154 |
138953 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
517A>G |
Thr173Ala |
M0109049 |
GNNFPGNI_00154 |
138954 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
516T>A |
Pro172Pro |
M0109050 |
GNNFPGNI_00154 |
138959 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
511G>A |
Val171Ile |
M0109051 |
GNNFPGNI_00154 |
138993 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
477C>T |
Asp159Asp |
M0109052 |
GNNFPGNI_00154 |
139026 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
444G>A |
Glu148Glu |
M0109053 |
GNNFPGNI_00154 |
139091 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
379G>C |
Ala127Pro |
M0109054 |
GNNFPGNI_00154 |
139101 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
369G>C |
Val123Val |
M0109055 |
GNNFPGNI_00154 |
139102 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
368T>C |
Val123Ala |
M0109056 |
GNNFPGNI_00154 |
139140 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
330G>C |
Glu110Asp |
M0109057 |
GNNFPGNI_00154 |
139160 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
310A>G |
Ile104Val |
M0109058 |
GNNFPGNI_00154 |
139164 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
306G>C |
Ser102Ser |
M0109059 |
GNNFPGNI_00154 |
139173 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
297C>T |
Pro99Pro |
M0109060 |
GNNFPGNI_00154 |
139177 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
293T>C |
Leu98Ser |
M0109061 |
GNNFPGNI_00154 |
139179 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
291T>C |
Arg97Arg |
M0109062 |
GNNFPGNI_00154 |
139181 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
289C>T |
Arg97Cys |
M0109063 |
GNNFPGNI_00154 |
139182 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
288C>G |
Leu96Leu |
M0109064 |
GNNFPGNI_00154 |
139184 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
286C>T |
Leu96Phe |
M0109065 |
GNNFPGNI_00154 |
139192 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
278A>G |
Glu93Gly |
M0109066 |
GNNFPGNI_00154 |
139232 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
238C>T |
His80Tyr |
M0109067 |
GNNFPGNI_00154 |
139233 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
237G>C |
Pro79Pro |
M0109068 |
GNNFPGNI_00154 |
139236 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
234T>G |
Leu78Leu |
M0109069 |
GNNFPGNI_00154 |
139238 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
232C>T |
Leu78Phe |
M0109070 |
GNNFPGNI_00154 |
139239 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
231T>C |
Cys77Cys |
M0109071 |
GNNFPGNI_00154 |
139257 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
213C>T |
Ile71Ile |
M0109072 |
GNNFPGNI_00154 |
139272 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
198T>C |
Tyr66Tyr |
M0109073 |
GNNFPGNI_00154 |
139278 |
9 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
192G>C |
Glu64Asp |
M0109074 |
GNNFPGNI_00154 |
139290 |
9 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
180C>T |
Ile60Ile |
M0109075 |
GNNFPGNI_00154 |
139370 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
100A>G |
Ile34Val |
M0109076 |
GNNFPGNI_00052 |
52879 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
339G>A |
Ala113Ala |
M0109077 |
GNNFPGNI_00052 |
53311 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
771T>C |
Tyr257Tyr |
M0109078 |
GNNFPGNI_00052 |
53317 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
777G>C |
Ala259Ala |
M0109079 |
GNNFPGNI_00052 |
53324 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
784G>T |
Ala262Ser |
M0109080 |
GNNFPGNI_00052 |
53365 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
825C>A |
Ala275Ala |
M0109081 |
GNNFPGNI_00052 |
53413 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
873G>A |
Pro291Pro |
M0109082 |
GNNFPGNI_00147 |
133038 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
210G>A |
Glu70Glu |
M0109083 |
GNNFPGNI_00121 |
112164 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1725G>C |
Glu575Asp |
M0109084 |
GNNFPGNI_00121 |
112167 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1722G>C |
Ser574Ser |
M0109085 |
GNNFPGNI_00121 |
112170 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1719C>T |
Gly573Gly |
M0109086 |
GNNFPGNI_00121 |
112173 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1716C>G |
Val572Val |
M0109087 |
GNNFPGNI_00121 |
112197 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1692C>G |
Leu564Leu |
M0109088 |
GNNFPGNI_00121 |
112203 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1686C>G |
Thr562Thr |
M0109089 |
GNNFPGNI_00121 |
112221 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1668A>C |
Arg556Arg |
M0109090 |
GNNFPGNI_00121 |
112242 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1647C>A |
Gly549Gly |
M0109091 |
GNNFPGNI_00121 |
112290 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1599G>C |
Val533Val |
M0109092 |
GNNFPGNI_00121 |
112308 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1581C>G |
Gly527Gly |
M0109093 |
GNNFPGNI_00121 |
112317 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1572C>G |
Ala524Ala |
M0109094 |
GNNFPGNI_00121 |
112356 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1533T>C |
Gly511Gly |
M0109095 |
GNNFPGNI_00121 |
112374 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1515A>G |
Glu505Glu |
M0109096 |
GNNFPGNI_00121 |
112386 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1503T>C |
Asn501Asn |
M0109097 |
GNNFPGNI_00121 |
112464 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1425T>C |
Thr475Thr |
M0109098 |
GNNFPGNI_00121 |
112467 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1422C>G |
Leu474Leu |
M0109099 |
GNNFPGNI_00121 |
112500 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1389T>C |
Asn463Asn |
M0109100 |
GNNFPGNI_00121 |
112542 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1347T>C |
Val449Val |
M0109101 |
GNNFPGNI_00037 |
38783 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
333T>G |
Ser111Ser |
M0109102 |
GNNFPGNI_00037 |
38810 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
360C>G |
Thr120Thr |
M0109103 |
GNNFPGNI_00037 |
38822 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
372C>T |
Gly124Gly |
M0109104 |
GNNFPGNI_00037 |
38828 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
378C>G |
Val126Val |
M0109105 |
GNNFPGNI_00037 |
38846 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
396C>G |
Arg132Arg |
M0109106 |
GNNFPGNI_00037 |
38855 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
405T>C |
Gly135Gly |
M0109107 |
GNNFPGNI_00039 |
40911 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
312G>A |
Ala104Ala |
M0109108 |
GNNFPGNI_00039 |
40927 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
328C>G |
Pro110Ala |
M0109109 |
GNNFPGNI_00039 |
40954 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
355C>A |
Arg119Arg |
M0109110 |
GNNFPGNI_00148 |
134089 |
7 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
168C>T |
Thr56Thr |
M0109111 |
GNNFPGNI_00148 |
134092 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
165G>C |
Ala55Ala |
M0109112 |
GNNFPGNI_00150 |
134717 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1430T>C |
Ile477Thr |
M0109113 |
GNNFPGNI_00154 |
139298 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
172T>A |
Ser58Thr |
M0109114 |
GNNFPGNI_00154 |
139301 |
7 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
169A>G |
Asn57Asp |
M0109115 |
GNNFPGNI_00042 |
44775 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
15G>C |
Thr5Thr |
M0109116 |
GNNFPGNI_00043 |
45202 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
75T>C |
Arg25Arg |
M0109117 |
GNNFPGNI_00150 |
134723 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1424G>A |
Ser475Asn |
M0109118 |
GNNFPGNI_00150 |
134835 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1312G>A |
Asp438Asn |
M0109119 |
GNNFPGNI_00150 |
135178 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
969G>A |
Ser323Ser |
M0109120 |
GNNFPGNI_00151 |
136306 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Gly40Gly |
M0109121 |
GNNFPGNI_00151 |
136312 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
114T>G |
Arg38Arg |
M0109122 |
GNNFPGNI_00047 |
47507 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
Asp62Asp |
M0109123 |
GNNFPGNI_00047 |
47519 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
198G>A |
Pro66Pro |
M0109124 |
GNNFPGNI_00047 |
48104 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
783C>G |
Ala261Ala |
M0109125 |
GNNFPGNI_00047 |
48191 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
870C>T |
Asn290Asn |
M0109126 |
GNNFPGNI_00048 |
48557 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
213A>G |
Glu71Glu |
M0109127 |
GNNFPGNI_00049 |
49214 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
123C>T |
Asp41Asp |
M0109128 |
GNNFPGNI_00161 |
143337 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
340T>C |
Leu114Leu |
M0109129 |
GNNFPGNI_00161 |
143338 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
339T>C |
Ile113Ile |
M0109130 |
GNNFPGNI_00161 |
143341 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
336C>G |
Leu112Leu |
M0109131 |
GNNFPGNI_00161 |
143374 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
303G>C |
Val101Val |
M0109132 |
GNNFPGNI_00161 |
143389 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
288C>T |
Arg96Arg |
M0109133 |
GNNFPGNI_00161 |
143395 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
282T>C |
Tyr94Tyr |
M0109134 |
GNNFPGNI_00161 |
143433 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
244G>A |
Gly82Ser |
M0109135 |
GNNFPGNI_00161 |
143464 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
213T>G |
Ala71Ala |
M0109136 |
GNNFPGNI_00161 |
143467 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
210T>C |
Phe70Phe |
M0109137 |
GNNFPGNI_00161 |
143479 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
198A>G |
Pro66Pro |
M0109138 |
GNNFPGNI_00163 |
143990 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
549T>C |
Gly183Gly |
M0109139 |
GNNFPGNI_00163 |
144287 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
252C>T |
Phe84Phe |
M0109140 |
GNNFPGNI_00181 |
163457 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1734G>C |
Leu578Leu |
M0109141 |
GNNFPGNI_00118 |
110174 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
131A>C |
Glu44Ala |
M0109142 |
GNNFPGNI_00121 |
113879 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
10G>A |
Val4Ile |
M0109143 |
GNNFPGNI_00154 |
139322 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
148G>A |
Val50Ile |
M0109144 |
GNNFPGNI_00154 |
139328 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
142A>G |
Lys48Glu |
M0109145 |
GNNFPGNI_00154 |
139356 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
114T>C |
Tyr38Tyr |
M0109146 |
GNNFPGNI_00154 |
139365 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
105C>T |
His35His |
M0109147 |
GNNFPGNI_00154 |
139383 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
87A>C |
Gly29Gly |
M0109148 |
GNNFPGNI_00154 |
139411 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
59A>G |
Asp20Gly |
M0109149 |
GNNFPGNI_00154 |
139412 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
58G>A |
Asp20Asn |
M0109150 |
GNNFPGNI_00159 |
141844 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
651C>T |
His217His |
M0109151 |
GNNFPGNI_00163 |
144302 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
Arg79Arg |
M0109152 |
GNNFPGNI_00041 |
43663 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1464G>A |
Gln488Gln |
M0109153 |
GNNFPGNI_00040 |
41981 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
573G>C |
Ala191Ala |
M0109154 |
GNNFPGNI_00040 |
42038 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
630T>C |
Ser210Ser |
M0109155 |
GNNFPGNI_00040 |
42044 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
636A>G |
Ala212Ala |
M0109156 |
GNNFPGNI_00040 |
42067 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
659G>A |
Arg220Lys |
M0109157 |
GNNFPGNI_00040 |
42077 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
669C>G |
Asp223Glu |
M0109158 |
GNNFPGNI_00040 |
42116 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
708G>A |
Gln236Gln |
M0109159 |
GNNFPGNI_00041 |
42556 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
357G>C |
Arg119Arg |
M0109160 |
GNNFPGNI_00041 |
42583 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
384A>T |
Ala128Ala |
M0109161 |
GNNFPGNI_00041 |
42607 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
408A>G |
Gly136Gly |
M0109162 |
GNNFPGNI_00041 |
42613 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
414C>T |
Phe138Phe |
M0109163 |
GNNFPGNI_00041 |
42747 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
548A>G |
Lys183Arg |
M0109164 |
GNNFPGNI_00047 |
47753 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
432T>C |
Tyr144Tyr |
M0109165 |
GNNFPGNI_00047 |
47756 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
435C>G |
Pro145Pro |
M0109166 |
GNNFPGNI_00047 |
47757 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
436T>C |
Leu146Leu |
M0109167 |
GNNFPGNI_00047 |
47804 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
483G>A |
Gln161Gln |
M0109168 |
GNNFPGNI_00047 |
47825 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
504C>T |
Tyr168Tyr |
M0109169 |
GNNFPGNI_00047 |
47843 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
522C>G |
Pro174Pro |
M0109170 |
GNNFPGNI_00047 |
47844 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
523T>C |
Leu175Leu |
M0109171 |
GNNFPGNI_00047 |
47846 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
525G>C |
Leu175Phe |
M0109172 |
GNNFPGNI_00047 |
47879 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
558C>T |
Asn186Asn |
M0109173 |
GNNFPGNI_00047 |
47924 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
603C>T |
Cys201Cys |
M0109174 |
GNNFPGNI_00047 |
48020 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
699C>T |
Asn233Asn |
M0109175 |
GNNFPGNI_00034 |
37454 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
237G>C |
Leu79Leu |
M0109176 |
GNNFPGNI_00034 |
37484 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
267C>T |
Gly89Gly |
M0109177 |
GNNFPGNI_00041 |
42220 |
11 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
21C>A |
Ile7Ile |
M0109178 |
GNNFPGNI_00041 |
42223 |
11 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
24G>C |
Ala8Ala |
M0109179 |
GNNFPGNI_00041 |
42259 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
60C>A |
Gly20Gly |
M0109180 |
GNNFPGNI_00041 |
42262 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
63G>A |
Thr21Thr |
M0109181 |
GNNFPGNI_00041 |
42271 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
72C>T |
His24His |
M0109182 |
GNNFPGNI_00041 |
42274 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
75T>C |
Gly25Gly |
M0109183 |
GNNFPGNI_00041 |
42313 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
114T>C |
Tyr38Tyr |
M0109184 |
GNNFPGNI_00121 |
111044 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2845A>G |
Thr949Ala |
M0109185 |
GNNFPGNI_00121 |
111045 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2844C>G |
Ala948Ala |
M0109186 |
GNNFPGNI_00121 |
111050 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2839G>A |
Ala947Thr |
M0109187 |
GNNFPGNI_00121 |
111102 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2787G>A |
Ala929Ala |
M0109188 |
GNNFPGNI_00121 |
111321 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2568G>A |
Glu856Glu |
M0109189 |
GNNFPGNI_00121 |
111357 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2532C>G |
Thr844Thr |
M0109190 |
GNNFPGNI_00167 |
146278 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
117T>G |
Gly39Gly |
M0109191 |
GNNFPGNI_00167 |
146290 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
105C>G |
Ala35Ala |
M0109192 |
GNNFPGNI_00167 |
146338 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
57C>T |
Thr19Thr |
M0109193 |
GNNFPGNI_00139 |
127726 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
102C>T |
Pro34Pro |
M0109194 |
GNNFPGNI_00139 |
127738 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
90A>C |
Pro30Pro |
M0109195 |
GNNFPGNI_00139 |
127741 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
87A>G |
Lys29Lys |
M0109196 |
GNNFPGNI_00139 |
127762 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
66C>T |
Gly22Gly |
M0109197 |
GNNFPGNI_00071 |
70649 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
661G>A |
Val221Met |
M0109198 |
GNNFPGNI_00041 |
43450 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1251G>C |
Leu417Leu |
M0109199 |
GNNFPGNI_00183 |
170450 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
18G>A |
Leu6Leu |
M0109200 |
GNNFPGNI_00040 |
41528 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
Cys40Cys |
M0109201 |
GNNFPGNI_00040 |
41531 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
123C>G |
Thr41Thr |
M0109202 |
GNNFPGNI_00136 |
126228 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
481C>A |
Arg161Arg |
M0109203 |
GNNFPGNI_00136 |
126233 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
476C>G |
Ala159Gly |
M0109204 |
GNNFPGNI_00136 |
126234 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
475G>A |
Ala159Thr |
M0109205 |
GNNFPGNI_00136 |
126241 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
468T>C |
His156His |
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 |
GNNFPGNI_00007 |
Silver (Ag) |
70.1 |
0 |
1 |
1033 |
0.9914 |
0.9943 |
prediction |
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 |
GNNFPGNI_00019 |
WCP73875.1|GT4 |
100 |
0 |
42 |
791 |
0.9482 |
1 |
GNNFPGNI_00020 |
QCI95642.1|GH1 |
100 |
0 |
1 |
733 |
1 |
1 |
GNNFPGNI_00185 |
WCP73888.1|GH23 |
100 |
2.46e-136 |
83 |
274 |
0.7007 |
1 |
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |