Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C1504 |
Reference Plasmid |
1111525849478545_bin.16__k141_358111 |
Reference Plasmid Size |
314138 |
Reference Plasmid GC Content |
0.34 |
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 |
M0000262 |
IPCGDNCJ_00188 |
193894 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
486T>C |
Phe162Phe |
M0000263 |
IPCGDNCJ_00188 |
193989 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
391C>T |
Pro131Ser |
M0000264 |
IPCGDNCJ_00189 |
194636 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
93A>T |
Leu31Phe |
M0000265 |
IPCGDNCJ_00189 |
194651 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
108A>G |
Lys36Lys |
M0000266 |
IPCGDNCJ_00189 |
194741 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
198G>C |
Leu66Leu |
M0000267 |
IPCGDNCJ_00189 |
194873 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
330T>A |
Val110Val |
M0000268 |
IPCGDNCJ_00189 |
195044 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
501C>T |
Arg167Arg |
M0000269 |
IPCGDNCJ_00189 |
195197 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
654C>T |
Tyr218Tyr |
M0000270 |
IPCGDNCJ_00189 |
195311 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
768A>G |
Thr256Thr |
M0000271 |
IPCGDNCJ_00189 |
195312 |
15 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
769A>G |
Ile257Val |
M0000272 |
IPCGDNCJ_00190 |
195958 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Ile71Ile |
M0000273 |
IPCGDNCJ_00191 |
196383 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
336G>A |
Lys112Lys |
M0000274 |
IPCGDNCJ_00191 |
196658 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
611C>T |
Thr204Ile |
M0000275 |
IPCGDNCJ_00192 |
197050 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
147T>A |
Ile49Ile |
M0000276 |
IPCGDNCJ_00278 |
297198 |
17 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-78C>T |
None |
M0000277 |
IPCGDNCJ_00278 |
297202 |
23 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-82T>G |
None |
M0000278 |
IPCGDNCJ_00279 |
297389 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
705A>G |
Glu235Glu |
M0000279 |
IPCGDNCJ_00279 |
297414 |
23 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
680T>C |
Ile227Thr |
M0000280 |
IPCGDNCJ_00279 |
297428 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
666T>G |
Leu222Leu |
M0000281 |
IPCGDNCJ_00279 |
297438 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
656G>C |
Gly219Ala |
M0000282 |
IPCGDNCJ_00279 |
297843 |
20 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
251C>T |
Ala84Val |
M0000283 |
IPCGDNCJ_00279 |
298010 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
84C>T |
Asn28Asn |
M0000284 |
IPCGDNCJ_00280 |
298135 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
931G>A |
Glu311Lys |
M0000285 |
IPCGDNCJ_00280 |
298169 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
897A>T |
Ile299Ile |
M0000286 |
IPCGDNCJ_00280 |
298176 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
890A>G |
Lys297Arg |
M0000287 |
IPCGDNCJ_00280 |
298298 |
19 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
768C>T |
Tyr256Tyr |
M0000288 |
IPCGDNCJ_00280 |
298941 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
125G>A |
Arg42Lys |
M0000289 |
IPCGDNCJ_00278 |
299119 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1999G>A |
None |
M0000290 |
IPCGDNCJ_00278 |
299173 |
17 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2053A>T |
None |
M0000291 |
IPCGDNCJ_00278 |
299223 |
16 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2103T>G |
None |
M0000292 |
IPCGDNCJ_00282 |
300068 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
336A>G |
Glu112Glu |
M0000293 |
IPCGDNCJ_00282 |
300169 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
437A>G |
Asp146Gly |
M0000294 |
IPCGDNCJ_00282 |
300170 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
438T>C |
Asp146Asp |
M0000295 |
IPCGDNCJ_00282 |
300182 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
450A>T |
Lys150Asn |
M0000296 |
IPCGDNCJ_00193 |
199772 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
756T>C |
Asp252Asp |
M0000297 |
IPCGDNCJ_00193 |
199773 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
755A>T |
Asp252Val |
M0000298 |
IPCGDNCJ_00193 |
199782 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
746T>C |
Leu249Ser |
M0000299 |
IPCGDNCJ_00193 |
199798 |
17 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
730A>G |
Asn244Asp |
M0000300 |
IPCGDNCJ_00193 |
200092 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
436G>A |
Asp146Asn |
M0000301 |
IPCGDNCJ_00193 |
200101 |
15 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
427A>G |
Thr143Ala |
M0000302 |
IPCGDNCJ_00193 |
200109 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
419A>C |
Glu140Ala |
M0000303 |
IPCGDNCJ_00193 |
200760 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-233A>T |
None |
M0000304 |
IPCGDNCJ_00193 |
200805 |
14 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-278T>C |
None |
M0000305 |
IPCGDNCJ_00115 |
112028 |
20 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1109A>G |
Asp370Gly |
M0000306 |
IPCGDNCJ_00115 |
112604 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
533A>C |
Asn178Thr |
M0000307 |
IPCGDNCJ_00115 |
112705 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
432T>C |
Asn144Asn |
M0000308 |
IPCGDNCJ_00109 |
113363 |
26 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4279C>T |
None |
M0000309 |
IPCGDNCJ_00116 |
114065 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
244A>G |
Ile82Val |
M0000310 |
IPCGDNCJ_00116 |
114089 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
220G>A |
Val74Ile |
M0000311 |
IPCGDNCJ_00116 |
114117 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
192T>C |
Ile64Ile |
M0000312 |
IPCGDNCJ_00116 |
114141 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
168C>T |
Gly56Gly |
M0000313 |
IPCGDNCJ_00116 |
114150 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
159G>T |
Val53Val |
M0000314 |
IPCGDNCJ_00119 |
117193 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
128A>T |
Tyr43Phe |
M0000315 |
IPCGDNCJ_00115 |
117385 |
40 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4249A>C |
None |
M0000316 |
IPCGDNCJ_00121 |
118357 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
567C>T |
Pro189Pro |
M0000317 |
IPCGDNCJ_00121 |
118780 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
144A>T |
Arg48Arg |
M0000318 |
IPCGDNCJ_00121 |
118786 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
138T>A |
Ser46Ser |
M0000319 |
IPCGDNCJ_00121 |
118789 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
135T>C |
Val45Val |
M0000320 |
IPCGDNCJ_00121 |
118804 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
120G>C |
Ala40Ala |
M0000321 |
IPCGDNCJ_00121 |
118810 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
114C>A |
Ala38Ala |
M0000322 |
IPCGDNCJ_00121 |
118825 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
99T>A |
Asn33Lys |
M0000323 |
IPCGDNCJ_00121 |
118826 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
98A>C |
Asn33Thr |
M0000324 |
IPCGDNCJ_00121 |
118828 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
96G>T |
Thr32Thr |
M0000325 |
IPCGDNCJ_00121 |
118847 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
77C>A |
Thr26Asn |
M0000326 |
IPCGDNCJ_00116 |
118935 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4627T>C |
None |
M0000327 |
IPCGDNCJ_00117 |
119565 |
36 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3815T>A |
None |
M0000328 |
IPCGDNCJ_00123 |
120061 |
25 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
233C>T |
Thr78Ile |
M0000329 |
IPCGDNCJ_00204 |
212714 |
34 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
335A>C |
Gln112Pro |
M0000330 |
IPCGDNCJ_00188 |
194035 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
345T>A |
Phe115Leu |
M0000331 |
IPCGDNCJ_00189 |
195438 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
895T>G |
Phe299Val |
M0000332 |
IPCGDNCJ_00191 |
196167 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
120G>A |
Lys40Lys |
M0000333 |
IPCGDNCJ_00192 |
197266 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
363T>C |
Tyr121Tyr |
M0000334 |
IPCGDNCJ_00192 |
197311 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
408T>C |
Tyr136Tyr |
M0000335 |
IPCGDNCJ_00192 |
197629 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
726C>A |
Thr242Thr |
M0000336 |
IPCGDNCJ_00186 |
198041 |
17 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4943T>A |
None |
M0000337 |
IPCGDNCJ_00193 |
199253 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1275C>T |
Asn425Asn |
M0000338 |
IPCGDNCJ_00193 |
199283 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1245T>C |
His415His |
M0000339 |
IPCGDNCJ_00193 |
199292 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1236T>C |
Ile412Ile |
M0000340 |
IPCGDNCJ_00193 |
199379 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1149G>T |
Lys383Asn |
M0000341 |
IPCGDNCJ_00193 |
199442 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1086C>T |
Asp362Asp |
M0000342 |
IPCGDNCJ_00193 |
199508 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1020T>G |
Thr340Thr |
M0000343 |
IPCGDNCJ_00193 |
199685 |
15 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
843G>T |
Glu281Asp |
M0000344 |
IPCGDNCJ_00193 |
200173 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
355A>T |
Thr119Ser |
M0000345 |
IPCGDNCJ_00193 |
200176 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
352G>A |
Asp118Asn |
M0000346 |
IPCGDNCJ_00194 |
201079 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
144G>T |
Pro48Pro |
M0000347 |
IPCGDNCJ_00194 |
201093 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
158C>T |
Thr53Ile |
M0000348 |
IPCGDNCJ_00194 |
201095 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
160G>A |
Asp54Asn |
M0000349 |
IPCGDNCJ_00194 |
201376 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
441A>C |
Ile147Ile |
M0000350 |
IPCGDNCJ_00194 |
201401 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
466T>G |
Tyr156Asp |
M0000351 |
IPCGDNCJ_00195 |
201989 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
219T>C |
Val73Val |
M0000352 |
IPCGDNCJ_00195 |
202511 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
741G>T |
Ala247Ala |
M0000353 |
IPCGDNCJ_00195 |
202703 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
933G>T |
Lys311Asn |
M0000354 |
IPCGDNCJ_00195 |
202778 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1008C>T |
Gly336Gly |
M0000355 |
IPCGDNCJ_00195 |
202807 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1037A>G |
His346Arg |
M0000356 |
IPCGDNCJ_00195 |
203631 |
33 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1861A>C |
Ile621Leu |
M0000357 |
IPCGDNCJ_00193 |
204654 |
11 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4127A>G |
None |
M0000358 |
IPCGDNCJ_00196 |
205195 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
513T>C |
Arg171Arg |
M0000359 |
IPCGDNCJ_00193 |
205327 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4800G>T |
None |
M0000360 |
IPCGDNCJ_00193 |
205359 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4832C>A |
None |
M0000361 |
IPCGDNCJ_00197 |
205968 |
44 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
353C>G |
Pro118Arg |
M0000362 |
IPCGDNCJ_00197 |
206134 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
519C>T |
Val173Val |
M0000363 |
IPCGDNCJ_00152 |
155757 |
24 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
771T>C |
Phe257Phe |
M0000364 |
IPCGDNCJ_00153 |
156419 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
288A>T |
Val96Val |
M0000365 |
IPCGDNCJ_00153 |
156509 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
378G>A |
Lys126Lys |
M0000366 |
IPCGDNCJ_00153 |
156521 |
24 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
390T>C |
Asn130Asn |
M0000367 |
IPCGDNCJ_00153 |
156528 |
20 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
397T>C |
Leu133Leu |
M0000368 |
IPCGDNCJ_00153 |
156561 |
24 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
430A>G |
Lys144Glu |
M0000369 |
IPCGDNCJ_00153 |
156565 |
24 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
434A>T |
Asn145Ile |
M0000370 |
IPCGDNCJ_00153 |
156659 |
40 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
528G>T |
Thr176Thr |
M0000371 |
IPCGDNCJ_00158 |
156715 |
23 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4216G>A |
None |
M0000372 |
IPCGDNCJ_00158 |
156754 |
24 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4177T>A |
None |
M0000373 |
IPCGDNCJ_00158 |
156765 |
23 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4166G>A |
None |
M0000374 |
IPCGDNCJ_00154 |
156792 |
24 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
683T>C |
Phe228Ser |
M0000375 |
IPCGDNCJ_00154 |
156812 |
24 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
663C>A |
Ala221Ala |
M0000376 |
IPCGDNCJ_00154 |
156866 |
25 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
609T>C |
Asp203Asp |
M0000377 |
IPCGDNCJ_00154 |
156878 |
25 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
597T>A |
Thr199Thr |
M0000378 |
IPCGDNCJ_00154 |
156881 |
25 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
594A>T |
Ser198Ser |
M0000379 |
IPCGDNCJ_00154 |
157095 |
36 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
380A>G |
Asp127Gly |
M0000380 |
IPCGDNCJ_00154 |
157325 |
23 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
150T>C |
Gly50Gly |
M0000381 |
IPCGDNCJ_00154 |
157476 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2T>A |
None |
M0000382 |
IPCGDNCJ_00155 |
157489 |
22 |
Skin |
0.05 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
1017G>A |
Ter339Ter |
M0000383 |
IPCGDNCJ_00155 |
157846 |
24 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
660T>G |
Asp220Glu |
M0000384 |
IPCGDNCJ_00155 |
158284 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
222A>G |
Val74Val |
M0000385 |
IPCGDNCJ_00156 |
158829 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
520T>C |
Phe174Leu |
M0000386 |
IPCGDNCJ_00156 |
158920 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
429A>G |
Gln143Gln |
M0000387 |
IPCGDNCJ_00156 |
158961 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
388A>G |
Ile130Val |
M0000388 |
IPCGDNCJ_00156 |
159114 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
235T>G |
Ser79Ala |
M0000389 |
IPCGDNCJ_00156 |
159133 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
216A>G |
Arg72Arg |
M0000390 |
IPCGDNCJ_00157 |
159571 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1116G>A |
Met372Ile |
M0000391 |
IPCGDNCJ_00157 |
159585 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1102T>G |
Leu368Val |
M0000392 |
IPCGDNCJ_00157 |
159890 |
16 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
797T>C |
Val266Ala |
M0000393 |
IPCGDNCJ_00157 |
159988 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
699A>G |
Leu233Leu |
M0000394 |
IPCGDNCJ_00157 |
159991 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
696T>C |
Ile232Ile |
M0000395 |
IPCGDNCJ_00157 |
160044 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
643A>T |
Ser215Cys |
M0000396 |
IPCGDNCJ_00157 |
160075 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
612G>A |
Lys204Lys |
M0000397 |
IPCGDNCJ_00157 |
160090 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
597T>C |
Phe199Phe |
M0000398 |
IPCGDNCJ_00157 |
160093 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
594A>T |
Lys198Asn |
M0000399 |
IPCGDNCJ_00157 |
160107 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
580T>C |
Leu194Leu |
M0000400 |
IPCGDNCJ_00157 |
160114 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
573A>G |
Lys191Lys |
M0000401 |
IPCGDNCJ_00157 |
160122 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
565T>A |
Tyr189Asn |
M0000402 |
IPCGDNCJ_00157 |
160140 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
547A>C |
Asn183His |
M0000403 |
IPCGDNCJ_00157 |
160155 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
532C>T |
Leu178Phe |
M0000404 |
IPCGDNCJ_00157 |
160164 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
523G>A |
Ala175Thr |
M0000405 |
IPCGDNCJ_00157 |
160246 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
441G>A |
Val147Val |
M0000406 |
IPCGDNCJ_00157 |
160249 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
438C>T |
Gly146Gly |
M0000407 |
IPCGDNCJ_00157 |
160333 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
354A>G |
Ala118Ala |
M0000408 |
IPCGDNCJ_00158 |
161478 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
548C>T |
Ala183Val |
M0000409 |
IPCGDNCJ_00158 |
161495 |
17 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
565G>A |
Glu189Lys |
M0000410 |
IPCGDNCJ_00240 |
256356 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
522G>A |
Glu174Glu |
M0000411 |
IPCGDNCJ_00240 |
256488 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
390A>G |
Lys130Lys |
M0000412 |
IPCGDNCJ_00235 |
256925 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4516A>G |
None |
M0000413 |
IPCGDNCJ_00235 |
256976 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4567T>C |
None |
M0000414 |
IPCGDNCJ_00235 |
257025 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4616G>A |
None |
M0000415 |
IPCGDNCJ_00237 |
258603 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4167G>A |
None |
M0000416 |
IPCGDNCJ_00237 |
258712 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4276G>A |
None |
M0000417 |
IPCGDNCJ_00244 |
258770 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1143T>A |
Ile381Ile |
M0000418 |
IPCGDNCJ_00244 |
258776 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1137T>C |
Ile379Ile |
M0000419 |
IPCGDNCJ_00244 |
258860 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1053C>T |
Ala351Ala |
M0000420 |
IPCGDNCJ_00244 |
258869 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1044G>C |
Ala348Ala |
M0000421 |
IPCGDNCJ_00244 |
258890 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1023G>A |
Thr341Thr |
M0000422 |
IPCGDNCJ_00244 |
258980 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
933T>C |
Ile311Ile |
M0000423 |
IPCGDNCJ_00244 |
259013 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
900A>T |
Leu300Phe |
M0000424 |
IPCGDNCJ_00244 |
259121 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
792A>T |
Ser264Ser |
M0000425 |
IPCGDNCJ_00244 |
259388 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
525C>T |
Asp175Asp |
M0000426 |
IPCGDNCJ_00244 |
259402 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
511G>A |
Val171Ile |
M0000427 |
IPCGDNCJ_00244 |
259416 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
497G>A |
Cys166Tyr |
M0000428 |
IPCGDNCJ_00244 |
259451 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
462G>A |
Pro154Pro |
M0000429 |
IPCGDNCJ_00244 |
259628 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
285T>C |
Phe95Phe |
M0000430 |
IPCGDNCJ_00244 |
259682 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
231A>C |
Arg77Arg |
M0000431 |
IPCGDNCJ_00244 |
259715 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
198T>C |
Leu66Leu |
M0000432 |
IPCGDNCJ_00156 |
163711 |
38 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4363C>T |
None |
M0000433 |
IPCGDNCJ_00162 |
164083 |
37 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
88C>G |
Pro30Ala |
M0000434 |
IPCGDNCJ_00164 |
165024 |
39 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1228A>G |
Ile410Val |
M0000435 |
IPCGDNCJ_00165 |
166918 |
41 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
835A>G |
Asn279Asp |
M0000436 |
IPCGDNCJ_00200 |
208949 |
25 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
419A>C |
Tyr140Ser |
M0000437 |
IPCGDNCJ_00198 |
210449 |
33 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2648C>G |
None |
M0000438 |
IPCGDNCJ_00198 |
212320 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4519G>T |
None |
M0000439 |
IPCGDNCJ_00201 |
214927 |
22 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4535T>G |
None |
M0000440 |
IPCGDNCJ_00206 |
215125 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
174A>C |
Glu58Asp |
M0000441 |
IPCGDNCJ_00206 |
215388 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
437G>A |
Arg146Gln |
M0000442 |
IPCGDNCJ_00208 |
217920 |
15 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
893G>A |
Gly298Asp |
M0000443 |
IPCGDNCJ_00224 |
231663 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
259A>G |
Asn87Asp |
M0000444 |
IPCGDNCJ_00227 |
234362 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1394T>A |
Ile465Lys |
M0000445 |
IPCGDNCJ_00229 |
238301 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1530C>T |
Gly510Gly |
M0000446 |
IPCGDNCJ_00231 |
241306 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
6678C>T |
Ser2226Ser |
M0000447 |
IPCGDNCJ_00231 |
242057 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
5927G>A |
Arg1976His |
M0000448 |
IPCGDNCJ_00231 |
247412 |
16 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
572T>C |
Val191Ala |
M0000449 |
IPCGDNCJ_00235 |
256914 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4505C>T |
None |
M0000450 |
IPCGDNCJ_00242 |
257823 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
371G>A |
Gly124Glu |
M0000451 |
IPCGDNCJ_00245 |
260652 |
23 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
59A>C |
His20Pro |
M0000452 |
IPCGDNCJ_00240 |
261211 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4334T>A |
None |
M0000453 |
IPCGDNCJ_00247 |
261497 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
82A>G |
Lys28Glu |
M0000454 |
IPCGDNCJ_00247 |
262027 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
612T>C |
Ile204Ile |
M0000455 |
IPCGDNCJ_00248 |
263312 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
874A>T |
Thr292Ser |
M0000456 |
IPCGDNCJ_00249 |
264982 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1401G>T |
Ala467Ala |
M0000457 |
IPCGDNCJ_00250 |
265358 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1260A>C |
Leu420Phe |
M0000458 |
IPCGDNCJ_00250 |
266184 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
434T>C |
Leu145Ser |
M0000459 |
IPCGDNCJ_00258 |
273823 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
200C>G |
Thr67Ser |
M0000460 |
IPCGDNCJ_00259 |
274874 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
36T>G |
Gly12Gly |
M0000461 |
IPCGDNCJ_00254 |
274980 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4407A>C |
None |
M0000462 |
IPCGDNCJ_00254 |
274983 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4410G>A |
None |
M0000463 |
IPCGDNCJ_00254 |
274984 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4411A>T |
None |
M0000464 |
IPCGDNCJ_00254 |
275000 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4427G>A |
None |
M0000465 |
IPCGDNCJ_00254 |
275034 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4461A>C |
None |
M0000466 |
IPCGDNCJ_00260 |
275050 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
544A>G |
Ile182Val |
M0000467 |
IPCGDNCJ_00260 |
275120 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
474T>C |
Ser158Ser |
M0000468 |
IPCGDNCJ_00260 |
275135 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
459A>G |
Glu153Glu |
M0000469 |
IPCGDNCJ_00260 |
275153 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
441C>T |
Asp147Asp |
M0000470 |
IPCGDNCJ_00260 |
275159 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
435T>G |
Ala145Ala |
M0000471 |
IPCGDNCJ_00260 |
275174 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
420A>C |
Thr140Thr |
M0000472 |
IPCGDNCJ_00260 |
275183 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
411G>A |
Val137Val |
M0000473 |
IPCGDNCJ_00260 |
275203 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
391A>G |
Ser131Gly |
M0000474 |
IPCGDNCJ_00260 |
275204 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
390G>A |
Glu130Glu |
M0000475 |
IPCGDNCJ_00260 |
275222 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
372T>A |
Asp124Glu |
M0000476 |
IPCGDNCJ_00260 |
275231 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
363T>C |
Ser121Ser |
M0000477 |
IPCGDNCJ_00260 |
275234 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
360G>A |
Glu120Glu |
M0000478 |
IPCGDNCJ_00260 |
275252 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
342A>G |
Leu114Leu |
M0000479 |
IPCGDNCJ_00260 |
275258 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
336A>G |
Lys112Lys |
M0000480 |
IPCGDNCJ_00260 |
275264 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
330T>A |
Ser110Ser |
M0000481 |
IPCGDNCJ_00260 |
275276 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
318T>C |
Ala106Ala |
M0000482 |
IPCGDNCJ_00260 |
275291 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
303A>T |
Thr101Thr |
M0000483 |
IPCGDNCJ_00260 |
275297 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
297T>A |
Pro99Pro |
M0000484 |
IPCGDNCJ_00260 |
275321 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
273T>A |
Arg91Arg |
M0000485 |
IPCGDNCJ_00260 |
275324 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
270A>G |
Thr90Thr |
M0000486 |
IPCGDNCJ_00260 |
275347 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
247T>C |
Leu83Leu |
M0000487 |
IPCGDNCJ_00260 |
275363 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
231T>A |
Asp77Glu |
M0000488 |
IPCGDNCJ_00260 |
275393 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
201A>T |
Lys67Asn |
M0000489 |
IPCGDNCJ_00260 |
275429 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
165G>A |
Glu55Glu |
M0000490 |
IPCGDNCJ_00260 |
275441 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
153A>G |
Gly51Gly |
M0000491 |
IPCGDNCJ_00260 |
275465 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
129T>A |
Leu43Leu |
M0000492 |
IPCGDNCJ_00260 |
275474 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Gly40Gly |
M0000493 |
IPCGDNCJ_00260 |
275483 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
111T>A |
Val37Val |
M0000494 |
IPCGDNCJ_00260 |
275486 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Gly36Gly |
M0000495 |
IPCGDNCJ_00260 |
275495 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
99A>G |
Lys33Lys |
M0000496 |
IPCGDNCJ_00260 |
275534 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
60G>A |
Glu20Glu |
M0000497 |
IPCGDNCJ_00260 |
275540 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
54T>A |
Ile18Ile |
M0000498 |
IPCGDNCJ_00260 |
275552 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
42G>A |
Ala14Ala |
M0000499 |
IPCGDNCJ_00255 |
275643 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4416G>T |
None |
M0000500 |
IPCGDNCJ_00273 |
289117 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
570G>C |
Ser190Ser |
M0000501 |
IPCGDNCJ_00122 |
119425 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
281C>T |
Pro94Leu |
M0000502 |
IPCGDNCJ_00122 |
119429 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
285G>T |
Ala95Ala |
M0000503 |
IPCGDNCJ_00122 |
119433 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
289T>C |
Leu97Leu |
M0000504 |
IPCGDNCJ_00122 |
119441 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
297A>T |
Val99Val |
M0000505 |
IPCGDNCJ_00122 |
119468 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
324G>A |
Glu108Glu |
M0000506 |
IPCGDNCJ_00117 |
119537 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3787T>A |
None |
M0000507 |
IPCGDNCJ_00117 |
119601 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3851T>C |
None |
M0000508 |
IPCGDNCJ_00117 |
119731 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3981A>T |
None |
M0000509 |
IPCGDNCJ_00117 |
119749 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3999C>G |
None |
M0000510 |
IPCGDNCJ_00117 |
119800 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4050A>G |
None |
M0000511 |
IPCGDNCJ_00117 |
119802 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4052C>G |
None |
M0000512 |
IPCGDNCJ_00117 |
119803 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4053G>C |
None |
M0000513 |
IPCGDNCJ_00117 |
119804 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4054C>G |
None |
M0000514 |
IPCGDNCJ_00117 |
119806 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4056C>T |
None |
M0000515 |
IPCGDNCJ_00128 |
131225 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4522T>A |
None |
M0000516 |
IPCGDNCJ_00135 |
131261 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
7T>A |
Tyr3Asn |
M0000517 |
IPCGDNCJ_00135 |
131312 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
58G>A |
Val20Ile |
M0000518 |
IPCGDNCJ_00135 |
131324 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
70A>G |
Lys24Glu |
M0000519 |
IPCGDNCJ_00135 |
131395 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
141T>C |
Phe47Phe |
M0000520 |
IPCGDNCJ_00135 |
131431 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
177T>C |
Gly59Gly |
M0000521 |
IPCGDNCJ_00135 |
131450 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
196A>G |
Thr66Ala |
M0000522 |
IPCGDNCJ_00135 |
131466 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
212A>T |
Tyr71Phe |
M0000523 |
IPCGDNCJ_00135 |
131569 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
315T>G |
Asp105Glu |
M0000524 |
IPCGDNCJ_00135 |
131581 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
327G>T |
Gln109His |
M0000525 |
IPCGDNCJ_00135 |
131597 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
343T>G |
Ser115Ala |
M0000526 |
IPCGDNCJ_00135 |
131758 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
504G>A |
Lys168Lys |
M0000527 |
IPCGDNCJ_00135 |
131761 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
507A>G |
Val169Val |
M0000528 |
IPCGDNCJ_00135 |
131776 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
522C>G |
Leu174Leu |
M0000529 |
IPCGDNCJ_00135 |
131902 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
648C>T |
Ile216Ile |
M0000530 |
IPCGDNCJ_00135 |
131908 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
654T>C |
Arg218Arg |
M0000531 |
IPCGDNCJ_00135 |
131909 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
655A>T |
Thr219Ser |
M0000532 |
IPCGDNCJ_00135 |
131950 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
696A>T |
Ser232Ser |
M0000533 |
IPCGDNCJ_00135 |
132007 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
753G>A |
Leu251Leu |
M0000534 |
IPCGDNCJ_00135 |
132144 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
890T>C |
Leu297Pro |
M0000535 |
IPCGDNCJ_00135 |
132183 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
929T>C |
Met310Thr |
M0000536 |
IPCGDNCJ_00135 |
132211 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
957G>A |
Leu319Leu |
M0000537 |
IPCGDNCJ_00135 |
132295 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1041G>A |
Val347Val |
M0000538 |
IPCGDNCJ_00135 |
132361 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1107C>T |
Ile369Ile |
M0000539 |
IPCGDNCJ_00135 |
132409 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1155T>C |
Val385Val |
M0000540 |
IPCGDNCJ_00135 |
132520 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1266A>G |
Glu422Glu |
M0000541 |
IPCGDNCJ_00135 |
132523 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1269T>A |
Thr423Thr |
M0000542 |
IPCGDNCJ_00135 |
132545 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1291A>T |
Met431Leu |
M0000543 |
IPCGDNCJ_00135 |
132547 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1293G>A |
Met431Ile |
M0000544 |
IPCGDNCJ_00135 |
132556 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1302G>A |
Thr434Thr |
M0000545 |
IPCGDNCJ_00135 |
132569 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1315A>G |
Asn439Asp |
M0000546 |
IPCGDNCJ_00135 |
132679 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1425T>C |
Asn475Asn |
M0000547 |
IPCGDNCJ_00135 |
132797 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1543C>G |
Gln515Glu |
M0000548 |
IPCGDNCJ_00135 |
132799 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1545G>A |
Gln515Gln |
M0000549 |
IPCGDNCJ_00135 |
132806 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1552G>A |
Ala518Thr |
M0000550 |
IPCGDNCJ_00135 |
132943 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1689A>G |
Lys563Lys |
M0000551 |
IPCGDNCJ_00135 |
132955 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1701A>T |
Pro567Pro |
M0000552 |
IPCGDNCJ_00135 |
132982 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1728G>A |
Val576Val |
M0000553 |
IPCGDNCJ_00135 |
133006 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1752A>G |
Lys584Lys |
M0000554 |
IPCGDNCJ_00135 |
133012 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1758A>G |
Ala586Ala |
M0000555 |
IPCGDNCJ_00135 |
133042 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1788G>A |
Leu596Leu |
M0000556 |
IPCGDNCJ_00135 |
133045 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1791T>C |
Ala597Ala |
M0000557 |
IPCGDNCJ_00135 |
133079 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1825C>A |
Leu609Met |
M0000558 |
IPCGDNCJ_00135 |
133087 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1833T>G |
Asp611Glu |
M0000559 |
IPCGDNCJ_00135 |
133093 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1839A>T |
Gln613His |
M0000560 |
IPCGDNCJ_00135 |
133095 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1841T>A |
Val614Asp |
M0000561 |
IPCGDNCJ_00135 |
133097 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1843A>T |
Met615Leu |
M0000562 |
IPCGDNCJ_00135 |
133099 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1845G>T |
Met615Ile |
M0000563 |
IPCGDNCJ_00129 |
133167 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4923G>A |
None |
M0000564 |
IPCGDNCJ_00129 |
133170 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4926A>G |
None |
M0000565 |
IPCGDNCJ_00136 |
133277 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Lys22Lys |
M0000566 |
IPCGDNCJ_00136 |
133295 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
84G>A |
Lys28Lys |
M0000567 |
IPCGDNCJ_00136 |
133319 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
108T>A |
Val36Val |
M0000568 |
IPCGDNCJ_00136 |
133325 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
114G>A |
Thr38Thr |
M0000569 |
IPCGDNCJ_00136 |
133364 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
153G>A |
Lys51Lys |
M0000570 |
IPCGDNCJ_00136 |
133382 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
171T>C |
Asp57Asp |
M0000571 |
IPCGDNCJ_00136 |
133394 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
183T>C |
Ile61Ile |
M0000572 |
IPCGDNCJ_00136 |
133397 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
Ala62Ala |
M0000573 |
IPCGDNCJ_00136 |
133483 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
272T>A |
Leu91Gln |
M0000574 |
IPCGDNCJ_00136 |
133652 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
441C>T |
Gly147Gly |
M0000575 |
IPCGDNCJ_00136 |
133784 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
573C>T |
Ile191Ile |
M0000576 |
IPCGDNCJ_00136 |
133955 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
744A>G |
Lys248Lys |
M0000577 |
IPCGDNCJ_00136 |
134024 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
813G>T |
Leu271Leu |
M0000578 |
IPCGDNCJ_00136 |
134027 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
816A>C |
Ile272Ile |
M0000579 |
IPCGDNCJ_00136 |
134030 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
819G>A |
Val273Val |
M0000580 |
IPCGDNCJ_00136 |
134054 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
843T>C |
Ile281Ile |
M0000581 |
IPCGDNCJ_00136 |
134057 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
846C>T |
Gly282Gly |
M0000582 |
IPCGDNCJ_00136 |
134117 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
906T>A |
Ala302Ala |
M0000583 |
IPCGDNCJ_00136 |
134250 |
28 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1039T>G |
Ser347Ala |
M0000584 |
IPCGDNCJ_00136 |
134291 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1080A>C |
Ala360Ala |
M0000585 |
IPCGDNCJ_00136 |
134318 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1107C>T |
Asn369Asn |
M0000586 |
IPCGDNCJ_00136 |
134399 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1188A>C |
Ala396Ala |
M0000587 |
IPCGDNCJ_00136 |
134489 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1278A>T |
Val426Val |
M0000588 |
IPCGDNCJ_00136 |
134492 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1281T>C |
Ala427Ala |
M0000589 |
IPCGDNCJ_00136 |
134495 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1284T>C |
His428His |
M0000590 |
IPCGDNCJ_00136 |
134501 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1290C>T |
Gly430Gly |
M0000591 |
IPCGDNCJ_00136 |
134617 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1406C>T |
Ala469Val |
M0000592 |
IPCGDNCJ_00136 |
134631 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1420G>T |
Ala474Ser |
M0000593 |
IPCGDNCJ_00136 |
134678 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1467T>C |
Asn489Asn |
M0000594 |
IPCGDNCJ_00136 |
134681 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1470C>T |
Asp490Asp |
M0000595 |
IPCGDNCJ_00136 |
134822 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1611C>T |
Leu537Leu |
M0000596 |
IPCGDNCJ_00136 |
134856 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1645G>A |
Asp549Asn |
M0000597 |
IPCGDNCJ_00136 |
134993 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1782G>A |
Lys594Lys |
M0000598 |
IPCGDNCJ_00136 |
135011 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1800T>C |
Ser600Ser |
M0000599 |
IPCGDNCJ_00136 |
135029 |
28 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1818C>G |
Pro606Pro |
M0000600 |
IPCGDNCJ_00136 |
135056 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1845T>A |
Pro615Pro |
M0000601 |
IPCGDNCJ_00136 |
135077 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1866C>T |
His622His |
M0000602 |
IPCGDNCJ_00136 |
135086 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1875G>A |
Leu625Leu |
M0000603 |
IPCGDNCJ_00136 |
135089 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1878A>G |
Leu626Leu |
M0000604 |
IPCGDNCJ_00136 |
135117 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1906A>G |
Asn636Asp |
M0000605 |
IPCGDNCJ_00137 |
135321 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
His40His |
M0000606 |
IPCGDNCJ_00137 |
135402 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
201G>A |
Leu67Leu |
M0000607 |
IPCGDNCJ_00137 |
135423 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
222G>A |
Thr74Thr |
M0000608 |
IPCGDNCJ_00137 |
135708 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
507T>G |
Ala169Ala |
M0000609 |
IPCGDNCJ_00137 |
135884 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
683C>A |
Ala228Glu |
M0000610 |
IPCGDNCJ_00137 |
135908 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
707T>A |
Leu236Gln |
M0000611 |
IPCGDNCJ_00137 |
135909 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
708G>A |
Leu236Leu |
M0000612 |
IPCGDNCJ_00137 |
135911 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
710A>T |
Tyr237Phe |
M0000613 |
IPCGDNCJ_00137 |
135949 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
748A>G |
Ile250Val |
M0000614 |
IPCGDNCJ_00137 |
135996 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
795T>A |
Val265Val |
M0000615 |
IPCGDNCJ_00137 |
136002 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
801T>C |
Val267Val |
M0000616 |
IPCGDNCJ_00137 |
136008 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
807G>A |
Glu269Glu |
M0000617 |
IPCGDNCJ_00137 |
136077 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
876T>A |
Thr292Thr |
M0000618 |
IPCGDNCJ_00137 |
136108 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
907A>C |
Asn303His |
M0000619 |
IPCGDNCJ_00137 |
136116 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
915G>T |
Glu305Asp |
M0000620 |
IPCGDNCJ_00137 |
136125 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
924T>A |
Ile308Ile |
M0000621 |
IPCGDNCJ_00139 |
136178 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3170C>T |
None |
M0000622 |
IPCGDNCJ_00138 |
136286 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2772T>C |
Phe924Phe |
M0000623 |
IPCGDNCJ_00138 |
136380 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
2678G>A |
Gly893Asp |
M0000624 |
IPCGDNCJ_00138 |
136526 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2532A>G |
Val844Val |
M0000625 |
IPCGDNCJ_00138 |
136565 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2493C>T |
Phe831Phe |
M0000626 |
IPCGDNCJ_00138 |
136624 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2434T>C |
Leu812Leu |
M0000627 |
IPCGDNCJ_00138 |
136685 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2373A>T |
Gly791Gly |
M0000628 |
IPCGDNCJ_00138 |
136721 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2337A>G |
Leu779Leu |
M0000629 |
IPCGDNCJ_00138 |
136742 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2316T>A |
Val772Val |
M0000630 |
IPCGDNCJ_00138 |
136772 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2286C>T |
Gly762Gly |
M0000631 |
IPCGDNCJ_00138 |
136862 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2196T>A |
Pro732Pro |
M0000632 |
IPCGDNCJ_00138 |
136871 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2187A>T |
Ile729Ile |
M0000633 |
IPCGDNCJ_00138 |
136898 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2160C>T |
Asn720Asn |
M0000634 |
IPCGDNCJ_00138 |
136922 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2136C>T |
Asp712Asp |
M0000635 |
IPCGDNCJ_00138 |
136991 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2067T>A |
Pro689Pro |
M0000636 |
IPCGDNCJ_00138 |
137042 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2016T>C |
Arg672Arg |
M0000637 |
IPCGDNCJ_00138 |
137105 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1953C>T |
Asn651Asn |
M0000638 |
IPCGDNCJ_00138 |
137132 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1926T>C |
Ala642Ala |
M0000639 |
IPCGDNCJ_00138 |
137138 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1920G>A |
Glu640Glu |
M0000640 |
IPCGDNCJ_00138 |
137192 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1866C>T |
Asp622Asp |
M0000641 |
IPCGDNCJ_00138 |
137203 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1855A>G |
Met619Val |
M0000642 |
IPCGDNCJ_00138 |
137240 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1818T>C |
Ile606Ile |
M0000643 |
IPCGDNCJ_00138 |
137246 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1812A>T |
Thr604Thr |
M0000644 |
IPCGDNCJ_00138 |
137279 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1779T>A |
Thr593Thr |
M0000645 |
IPCGDNCJ_00138 |
137309 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1749T>C |
Ile583Ile |
M0000646 |
IPCGDNCJ_00138 |
137429 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1629C>A |
Asn543Lys |
M0000647 |
IPCGDNCJ_00138 |
137519 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1539A>G |
Gln513Gln |
M0000648 |
IPCGDNCJ_00138 |
137567 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1491T>A |
Arg497Arg |
M0000649 |
IPCGDNCJ_00138 |
137650 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1408T>C |
Leu470Leu |
M0000650 |
IPCGDNCJ_00138 |
137657 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1401C>T |
Leu467Leu |
M0000651 |
IPCGDNCJ_00138 |
137854 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1204A>G |
Thr402Ala |
M0000652 |
IPCGDNCJ_00138 |
137878 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1180G>A |
Val394Ile |
M0000653 |
IPCGDNCJ_00138 |
137921 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1137A>G |
Ile379Met |
M0000654 |
IPCGDNCJ_00138 |
137936 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1122C>T |
Ser374Ser |
M0000655 |
IPCGDNCJ_00138 |
137967 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1091A>T |
Gln364Leu |
M0000656 |
IPCGDNCJ_00138 |
137968 |
6 |
Skin |
0.01 |
protein_coding |
stop_gained |
HIGH |
1090C>T |
Gln364* |
M0000657 |
IPCGDNCJ_00138 |
138141 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
917T>C |
Val306Ala |
M0000658 |
IPCGDNCJ_00138 |
138170 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
888C>T |
Gly296Gly |
M0000659 |
IPCGDNCJ_00138 |
138209 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
849C>G |
Ser283Ser |
M0000660 |
IPCGDNCJ_00138 |
138233 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
825T>C |
Ile275Ile |
M0000661 |
IPCGDNCJ_00138 |
138299 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
759G>C |
Ser253Ser |
M0000662 |
IPCGDNCJ_00138 |
138437 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
621T>A |
Ile207Ile |
M0000663 |
IPCGDNCJ_00138 |
138486 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
572C>A |
Thr191Asn |
M0000664 |
IPCGDNCJ_00138 |
138623 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
435G>A |
Ala145Ala |
M0000665 |
IPCGDNCJ_00138 |
138697 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
361G>A |
Ala121Thr |
M0000666 |
IPCGDNCJ_00138 |
138767 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
291T>A |
Ala97Ala |
M0000667 |
IPCGDNCJ_00138 |
138778 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
280C>A |
Arg94Arg |
M0000668 |
IPCGDNCJ_00138 |
138998 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
60C>T |
Gly20Gly |
M0000669 |
IPCGDNCJ_00138 |
139091 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-34A>G |
None |
M0000670 |
IPCGDNCJ_00138 |
139119 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-62G>A |
None |
M0000671 |
IPCGDNCJ_00138 |
139167 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-110T>G |
None |
M0000672 |
IPCGDNCJ_00138 |
139240 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-183A>G |
None |
M0000673 |
IPCGDNCJ_00138 |
139297 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-240A>T |
None |
M0000674 |
IPCGDNCJ_00139 |
139348 |
7 |
Skin |
0.02 |
protein_coding |
start_lost |
HIGH |
1A>G |
Met1? |
M0000675 |
IPCGDNCJ_00139 |
139452 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
105A>G |
Ile35Met |
M0000676 |
IPCGDNCJ_00139 |
139565 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
218A>C |
Tyr73Ser |
M0000677 |
IPCGDNCJ_00139 |
139588 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
241A>T |
Thr81Ser |
M0000678 |
IPCGDNCJ_00139 |
139590 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
243A>T |
Thr81Thr |
M0000679 |
IPCGDNCJ_00139 |
139605 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
258T>A |
Asn86Lys |
M0000680 |
IPCGDNCJ_00139 |
139639 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
292A>G |
Thr98Ala |
M0000681 |
IPCGDNCJ_00139 |
139644 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
297T>C |
Ser99Ser |
M0000682 |
IPCGDNCJ_00139 |
139650 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
303C>G |
His101Gln |
M0000683 |
IPCGDNCJ_00139 |
139671 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
324C>G |
His108Gln |
M0000684 |
IPCGDNCJ_00139 |
139672 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
325T>C |
Ser109Pro |
M0000685 |
IPCGDNCJ_00139 |
139674 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
327A>G |
Ser109Ser |
M0000686 |
IPCGDNCJ_00139 |
140109 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
762T>A |
His254Gln |
M0000687 |
IPCGDNCJ_00139 |
140262 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
915T>A |
Ala305Ala |
M0000688 |
IPCGDNCJ_00139 |
140392 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1045G>A |
Asp349Asn |
M0000689 |
IPCGDNCJ_00139 |
140484 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1137C>A |
Val379Val |
M0000690 |
IPCGDNCJ_00139 |
140604 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1257A>G |
Lys419Lys |
M0000691 |
IPCGDNCJ_00139 |
140611 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1264A>G |
Thr422Ala |
M0000692 |
IPCGDNCJ_00139 |
140640 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1293A>G |
Leu431Leu |
M0000693 |
IPCGDNCJ_00139 |
140663 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1316A>G |
Asn439Ser |
M0000694 |
IPCGDNCJ_00139 |
140706 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1359T>C |
Gly453Gly |
M0000695 |
IPCGDNCJ_00139 |
140972 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1625A>G |
Asn542Ser |
M0000696 |
IPCGDNCJ_00139 |
141105 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1758A>T |
Ser586Ser |
M0000697 |
IPCGDNCJ_00139 |
141417 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2070A>C |
Ala690Ala |
M0000698 |
IPCGDNCJ_00138 |
141506 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2449C>T |
None |
M0000699 |
IPCGDNCJ_00138 |
141535 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2478A>T |
None |
M0000700 |
IPCGDNCJ_00138 |
141536 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2479A>T |
None |
M0000701 |
IPCGDNCJ_00140 |
141774 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
400T>C |
Leu134Leu |
M0000702 |
IPCGDNCJ_00140 |
141811 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
363T>C |
His121His |
M0000703 |
IPCGDNCJ_00140 |
141862 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
312C>G |
Ala104Ala |
M0000704 |
IPCGDNCJ_00140 |
142078 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
96C>T |
Arg32Arg |
M0000705 |
IPCGDNCJ_00140 |
142156 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
18A>T |
Ala6Ala |
M0000706 |
IPCGDNCJ_00138 |
142187 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3130G>A |
None |
M0000707 |
IPCGDNCJ_00138 |
142218 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3161C>A |
None |
M0000708 |
IPCGDNCJ_00141 |
142498 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1791G>A |
Ser597Ser |
M0000709 |
IPCGDNCJ_00141 |
142612 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1677T>C |
Asn559Asn |
M0000710 |
IPCGDNCJ_00141 |
142629 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1660T>C |
Phe554Leu |
M0000711 |
IPCGDNCJ_00141 |
142768 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1521C>T |
Asn507Asn |
M0000712 |
IPCGDNCJ_00141 |
142816 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1473C>T |
Ile491Ile |
M0000713 |
IPCGDNCJ_00141 |
142854 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1435A>G |
Asn479Asp |
M0000714 |
IPCGDNCJ_00141 |
142870 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1419T>G |
Ala473Ala |
M0000715 |
IPCGDNCJ_00141 |
142922 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1367A>G |
Asp456Gly |
M0000716 |
IPCGDNCJ_00141 |
142981 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1308G>T |
Glu436Asp |
M0000717 |
IPCGDNCJ_00141 |
142984 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1305G>T |
Val435Val |
M0000718 |
IPCGDNCJ_00141 |
143002 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1287G>T |
Leu429Phe |
M0000719 |
IPCGDNCJ_00141 |
143044 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1245A>T |
Lys415Asn |
M0000720 |
IPCGDNCJ_00141 |
143106 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1183A>G |
Asn395Asp |
M0000721 |
IPCGDNCJ_00141 |
143140 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1149A>T |
Thr383Thr |
M0000722 |
IPCGDNCJ_00141 |
143155 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1134C>T |
Ile378Ile |
M0000723 |
IPCGDNCJ_00141 |
143161 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1128A>G |
Lys376Lys |
M0000724 |
IPCGDNCJ_00141 |
143317 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
972T>C |
Ser324Ser |
M0000725 |
IPCGDNCJ_00141 |
143318 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
971G>A |
Ser324Asn |
M0000726 |
IPCGDNCJ_00141 |
143403 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
886A>G |
Lys296Glu |
M0000727 |
IPCGDNCJ_00141 |
143562 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
727G>A |
Asp243Asn |
M0000728 |
IPCGDNCJ_00141 |
143608 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
681A>G |
Glu227Glu |
M0000729 |
IPCGDNCJ_00141 |
143611 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
678A>T |
Ile226Ile |
M0000730 |
IPCGDNCJ_00141 |
143652 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
637G>A |
Ala213Thr |
M0000731 |
IPCGDNCJ_00141 |
143752 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
537T>G |
Ala179Ala |
M0000732 |
IPCGDNCJ_00141 |
143819 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
470T>A |
Ile157Lys |
M0000733 |
IPCGDNCJ_00141 |
143852 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
437C>A |
Pro146Gln |
M0000734 |
IPCGDNCJ_00141 |
143931 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
358G>A |
Asp120Asn |
M0000735 |
IPCGDNCJ_00141 |
143959 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
330C>T |
Asn110Asn |
M0000736 |
IPCGDNCJ_00141 |
143984 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
305A>G |
Lys102Arg |
M0000737 |
IPCGDNCJ_00141 |
143994 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
295A>G |
Lys99Glu |
M0000738 |
IPCGDNCJ_00141 |
144004 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Asp95Asp |
M0000739 |
IPCGDNCJ_00141 |
144090 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
199C>T |
Leu67Leu |
M0000740 |
IPCGDNCJ_00141 |
144143 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
146T>C |
Val49Ala |
M0000741 |
IPCGDNCJ_00141 |
144144 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
145G>T |
Val49Leu |
M0000742 |
IPCGDNCJ_00141 |
144148 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
141G>A |
Thr47Thr |
M0000743 |
IPCGDNCJ_00141 |
144193 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
96G>C |
Thr32Thr |
M0000744 |
IPCGDNCJ_00141 |
144270 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
19A>C |
Asn7His |
M0000745 |
IPCGDNCJ_00140 |
144333 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2160T>C |
None |
M0000746 |
IPCGDNCJ_00140 |
144334 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2161A>G |
None |
M0000747 |
IPCGDNCJ_00140 |
144445 |
11 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2272A>C |
None |
M0000748 |
IPCGDNCJ_00140 |
144534 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2361A>G |
None |
M0000749 |
IPCGDNCJ_00142 |
144569 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
30A>G |
Ile10Met |
M0000750 |
IPCGDNCJ_00142 |
144635 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
96A>C |
Ala32Ala |
M0000751 |
IPCGDNCJ_00142 |
144743 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
204C>T |
Ser68Ser |
M0000752 |
IPCGDNCJ_00142 |
144806 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
267A>C |
Glu89Asp |
M0000753 |
IPCGDNCJ_00142 |
144863 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
324T>A |
Ser108Ser |
M0000754 |
IPCGDNCJ_00142 |
144914 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
375C>T |
Tyr125Tyr |
M0000755 |
IPCGDNCJ_00140 |
144973 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2800C>A |
None |
M0000756 |
IPCGDNCJ_00140 |
144977 |
11 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2804T>C |
None |
M0000757 |
IPCGDNCJ_00140 |
144986 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2813G>T |
None |
M0000758 |
IPCGDNCJ_00140 |
144987 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2814T>C |
None |
M0000759 |
IPCGDNCJ_00140 |
144993 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2820A>T |
None |
M0000760 |
IPCGDNCJ_00140 |
145011 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2838A>G |
None |
M0000761 |
IPCGDNCJ_00140 |
145013 |
11 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2840A>G |
None |
M0000762 |
IPCGDNCJ_00140 |
145097 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2924C>G |
None |
M0000763 |
IPCGDNCJ_00140 |
145107 |
15 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2934T>G |
None |
M0000764 |
IPCGDNCJ_00143 |
145149 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
577A>G |
Asn193Asp |
M0000765 |
IPCGDNCJ_00143 |
145171 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
555G>A |
Gln185Gln |
M0000766 |
IPCGDNCJ_00143 |
145225 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
501A>T |
Thr167Thr |
M0000767 |
IPCGDNCJ_00143 |
145247 |
15 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
479A>C |
His160Pro |
M0000768 |
IPCGDNCJ_00143 |
145263 |
15 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
463A>C |
Asn155His |
M0000769 |
IPCGDNCJ_00143 |
145270 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
456A>G |
Lys152Lys |
M0000770 |
IPCGDNCJ_00143 |
145300 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Gly142Gly |
M0000771 |
IPCGDNCJ_00143 |
145417 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
309G>A |
Val103Val |
M0000772 |
IPCGDNCJ_00143 |
145433 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
293A>G |
Asp98Gly |
M0000773 |
IPCGDNCJ_00143 |
145459 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
267T>C |
Asn89Asn |
M0000774 |
IPCGDNCJ_00143 |
145480 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
246T>A |
Ile82Ile |
M0000775 |
IPCGDNCJ_00143 |
145579 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
147A>G |
Gly49Gly |
M0000776 |
IPCGDNCJ_00143 |
145582 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
144A>G |
Val48Val |
M0000777 |
IPCGDNCJ_00143 |
145594 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
132C>T |
Gly44Gly |
M0000778 |
IPCGDNCJ_00143 |
145612 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
114G>A |
Gly38Gly |
M0000779 |
IPCGDNCJ_00143 |
145624 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
102T>A |
Leu34Leu |
M0000780 |
IPCGDNCJ_00143 |
145674 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
52T>C |
Leu18Leu |
M0000781 |
IPCGDNCJ_00144 |
145845 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
282C>T |
Gly94Gly |
M0000782 |
IPCGDNCJ_00144 |
145860 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
267G>A |
Gly89Gly |
M0000783 |
IPCGDNCJ_00144 |
145995 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
132A>G |
Leu44Leu |
M0000784 |
IPCGDNCJ_00144 |
146016 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
111T>C |
Phe37Phe |
M0000785 |
IPCGDNCJ_00144 |
146046 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
81A>G |
Gln27Gln |
M0000786 |
IPCGDNCJ_00140 |
146139 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3966A>C |
None |
M0000787 |
IPCGDNCJ_00140 |
146165 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3992A>G |
None |
M0000788 |
IPCGDNCJ_00145 |
146194 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1218T>C |
Phe406Phe |
M0000789 |
IPCGDNCJ_00145 |
146205 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1207T>C |
Leu403Leu |
M0000790 |
IPCGDNCJ_00145 |
146275 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1137C>T |
Pro379Pro |
M0000791 |
IPCGDNCJ_00145 |
146277 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1135C>T |
Pro379Ser |
M0000792 |
IPCGDNCJ_00145 |
146285 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1127A>G |
Lys376Arg |
M0000793 |
IPCGDNCJ_00145 |
146355 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1057G>A |
Val353Ile |
M0000794 |
IPCGDNCJ_00145 |
146476 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
936T>A |
Ala312Ala |
M0000795 |
IPCGDNCJ_00145 |
146546 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
866A>G |
Asn289Ser |
M0000796 |
IPCGDNCJ_00145 |
146791 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
621C>T |
Val207Val |
M0000797 |
IPCGDNCJ_00145 |
146826 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
586C>T |
Pro196Ser |
M0000798 |
IPCGDNCJ_00145 |
146840 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
572T>C |
Val191Ala |
M0000799 |
IPCGDNCJ_00145 |
147151 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
261T>G |
Thr87Thr |
M0000800 |
IPCGDNCJ_00145 |
147300 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
112G>A |
Gly38Ser |
M0000801 |
IPCGDNCJ_00145 |
147340 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
72T>C |
Ile24Ile |
M0000802 |
IPCGDNCJ_00145 |
147349 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
63A>C |
Leu21Leu |
M0000803 |
IPCGDNCJ_00146 |
147504 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1997G>T |
Arg666Leu |
M0000804 |
IPCGDNCJ_00146 |
147517 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1984T>G |
Cys662Gly |
M0000805 |
IPCGDNCJ_00146 |
147531 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1970T>C |
Val657Ala |
M0000806 |
IPCGDNCJ_00146 |
147535 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1966T>A |
Ser656Thr |
M0000807 |
IPCGDNCJ_00146 |
147557 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1944T>C |
His648His |
M0000808 |
IPCGDNCJ_00146 |
147578 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1923T>C |
Gly641Gly |
M0000809 |
IPCGDNCJ_00146 |
147601 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1900G>A |
Asp634Asn |
M0000810 |
IPCGDNCJ_00146 |
147659 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1842A>G |
Pro614Pro |
M0000811 |
IPCGDNCJ_00146 |
147668 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1833T>G |
Ala611Ala |
M0000812 |
IPCGDNCJ_00146 |
147671 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1830G>A |
Thr610Thr |
M0000813 |
IPCGDNCJ_00146 |
147675 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1826A>G |
Glu609Gly |
M0000814 |
IPCGDNCJ_00146 |
148011 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1490A>G |
Asp497Gly |
M0000815 |
IPCGDNCJ_00146 |
148241 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1260G>T |
Gly420Gly |
M0000816 |
IPCGDNCJ_00146 |
148244 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1257G>A |
Thr419Thr |
M0000817 |
IPCGDNCJ_00146 |
148330 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1171A>G |
Arg391Gly |
M0000818 |
IPCGDNCJ_00146 |
148604 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
897A>G |
Val299Val |
M0000819 |
IPCGDNCJ_00146 |
148643 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
858C>A |
Ala286Ala |
M0000820 |
IPCGDNCJ_00146 |
148784 |
43 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
717T>G |
Gly239Gly |
M0000821 |
IPCGDNCJ_00146 |
148798 |
44 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
703A>G |
Thr235Ala |
M0000822 |
IPCGDNCJ_00146 |
148858 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
643C>A |
Arg215Ser |
M0000823 |
IPCGDNCJ_00146 |
148895 |
43 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
606T>G |
Ile202Met |
M0000824 |
IPCGDNCJ_00146 |
148964 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
537G>A |
Leu179Leu |
M0000825 |
IPCGDNCJ_00146 |
149039 |
44 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
462G>A |
Ser154Ser |
M0000826 |
IPCGDNCJ_00146 |
149066 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
435C>T |
Arg145Arg |
M0000827 |
IPCGDNCJ_00146 |
149078 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
423T>C |
Gly141Gly |
M0000828 |
IPCGDNCJ_00146 |
149092 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
409G>C |
Glu137Gln |
M0000829 |
IPCGDNCJ_00146 |
149126 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
375T>A |
Val125Val |
M0000830 |
IPCGDNCJ_00146 |
149138 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
363G>A |
Ala121Ala |
M0000831 |
IPCGDNCJ_00146 |
149324 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
177C>A |
Ile59Ile |
M0000832 |
IPCGDNCJ_00146 |
149388 |
45 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
113T>G |
Val38Gly |
M0000833 |
IPCGDNCJ_00146 |
149393 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
108A>C |
Ala36Ala |
M0000834 |
IPCGDNCJ_00146 |
149411 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
90C>T |
Phe30Phe |
M0000835 |
IPCGDNCJ_00147 |
149698 |
44 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
61A>G |
Ile21Val |
M0000836 |
IPCGDNCJ_00198 |
207874 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-73C>T |
None |
M0000837 |
IPCGDNCJ_00163 |
164568 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
243T>C |
Ser81Ser |
M0000838 |
IPCGDNCJ_00166 |
168722 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1440G>A |
Gln480Gln |
M0000839 |
IPCGDNCJ_00168 |
171126 |
46 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1147A>C |
Thr383Pro |
M0000840 |
IPCGDNCJ_00168 |
171686 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
587A>T |
Lys196Ile |
M0000841 |
IPCGDNCJ_00166 |
168515 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1647G>A |
Leu549Leu |
M0000842 |
IPCGDNCJ_00166 |
168551 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1611A>G |
Gly537Gly |
M0000843 |
IPCGDNCJ_00166 |
169377 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
785G>A |
Gly262Glu |
M0000844 |
IPCGDNCJ_00166 |
170075 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
87T>G |
Asn29Lys |
M0000845 |
IPCGDNCJ_00166 |
170086 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
76G>T |
Ala26Ser |
M0000846 |
IPCGDNCJ_00166 |
170096 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
66T>G |
Asn22Lys |
M0000847 |
IPCGDNCJ_00166 |
170111 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
51A>G |
Val17Val |
M0000848 |
IPCGDNCJ_00166 |
170135 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
27A>T |
Ile9Ile |
M0000849 |
IPCGDNCJ_00166 |
170143 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
19C>A |
Pro7Thr |
M0000850 |
IPCGDNCJ_00167 |
170164 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
563G>A |
Ser188Asn |
M0000851 |
IPCGDNCJ_00167 |
170342 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
385G>A |
Gly129Arg |
M0000852 |
IPCGDNCJ_00167 |
170384 |
16 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
343T>C |
Ser115Pro |
M0000853 |
IPCGDNCJ_00167 |
170613 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
114A>C |
Leu38Leu |
M0000854 |
IPCGDNCJ_00167 |
170681 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
46C>T |
Leu16Leu |
M0000855 |
IPCGDNCJ_00168 |
171459 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
814T>C |
Trp272Arg |
M0000856 |
IPCGDNCJ_00168 |
171524 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
749A>T |
Tyr250Phe |
M0000857 |
IPCGDNCJ_00168 |
171526 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
747A>G |
Leu249Leu |
M0000858 |
IPCGDNCJ_00168 |
171530 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
743A>C |
Lys248Thr |
M0000859 |
IPCGDNCJ_00168 |
171558 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
715G>A |
Val239Ile |
M0000860 |
IPCGDNCJ_00168 |
171883 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
390G>A |
Lys130Lys |
M0000861 |
IPCGDNCJ_00168 |
171973 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
300G>A |
Gln100Gln |
M0000862 |
IPCGDNCJ_00168 |
171984 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
289A>G |
Ile97Val |
M0000863 |
IPCGDNCJ_00168 |
172146 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
127G>C |
Glu43Gln |
M0000864 |
IPCGDNCJ_00169 |
172784 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1041G>A |
Gln347Gln |
M0000865 |
IPCGDNCJ_00169 |
172787 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1038T>A |
Ile346Ile |
M0000866 |
IPCGDNCJ_00169 |
172853 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
972G>A |
Gly324Gly |
M0000867 |
IPCGDNCJ_00169 |
173339 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
486A>G |
Glu162Glu |
M0000868 |
IPCGDNCJ_00169 |
173564 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
261G>C |
Thr87Thr |
M0000869 |
IPCGDNCJ_00169 |
173816 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
9T>A |
Arg3Arg |
M0000870 |
IPCGDNCJ_00170 |
174333 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
306G>A |
Ala102Ala |
M0000871 |
IPCGDNCJ_00098 |
103344 |
11 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3834G>A |
None |
M0000872 |
IPCGDNCJ_00110 |
109286 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
164T>G |
Leu55Arg |
M0000873 |
IPCGDNCJ_00110 |
109419 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
31A>G |
Lys11Glu |
M0000874 |
IPCGDNCJ_00105 |
110331 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4361T>G |
None |
M0000875 |
IPCGDNCJ_00115 |
111996 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1141A>G |
Ser381Gly |
M0000876 |
IPCGDNCJ_00115 |
112717 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
420A>G |
Ala140Ala |
M0000877 |
IPCGDNCJ_00109 |
113343 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4259A>C |
None |
M0000878 |
IPCGDNCJ_00109 |
113384 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4300A>G |
None |
M0000879 |
IPCGDNCJ_00109 |
113385 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4301T>C |
None |
M0000880 |
IPCGDNCJ_00109 |
113390 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4306G>A |
None |
M0000881 |
IPCGDNCJ_00109 |
113404 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4320G>A |
None |
M0000882 |
IPCGDNCJ_00109 |
113426 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4342T>C |
None |
M0000883 |
IPCGDNCJ_00109 |
113427 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4343A>T |
None |
M0000884 |
IPCGDNCJ_00116 |
113476 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
833T>A |
Ile278Asn |
M0000885 |
IPCGDNCJ_00116 |
113550 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
759C>T |
Asp253Asp |
M0000886 |
IPCGDNCJ_00116 |
113803 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
506A>G |
Glu169Gly |
M0000887 |
IPCGDNCJ_00116 |
113886 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
423T>C |
Val141Val |
M0000888 |
IPCGDNCJ_00116 |
113895 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
414C>G |
Val138Val |
M0000889 |
IPCGDNCJ_00116 |
113904 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
405C>T |
Tyr135Tyr |
M0000890 |
IPCGDNCJ_00116 |
113943 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
366C>T |
Phe122Phe |
M0000891 |
IPCGDNCJ_00116 |
114202 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
107T>A |
Met36Lys |
M0000892 |
IPCGDNCJ_00116 |
114297 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
12C>T |
Asn4Asn |
M0000893 |
IPCGDNCJ_00110 |
114339 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4890A>T |
None |
M0000894 |
IPCGDNCJ_00110 |
114388 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4939A>T |
None |
M0000895 |
IPCGDNCJ_00110 |
114417 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4968G>A |
None |
M0000896 |
IPCGDNCJ_00110 |
114421 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4972G>A |
None |
M0000897 |
IPCGDNCJ_00111 |
114508 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4260C>T |
None |
M0000898 |
IPCGDNCJ_00117 |
114602 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1149C>T |
His383His |
M0000899 |
IPCGDNCJ_00117 |
114610 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1141G>A |
Gly381Arg |
M0000900 |
IPCGDNCJ_00117 |
114698 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1053C>T |
Ile351Ile |
M0000901 |
IPCGDNCJ_00117 |
115073 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
678A>G |
Glu226Glu |
M0000902 |
IPCGDNCJ_00117 |
115259 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
492A>T |
Ala164Ala |
M0000903 |
IPCGDNCJ_00117 |
115301 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
450C>T |
Tyr150Tyr |
M0000904 |
IPCGDNCJ_00117 |
115337 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
414A>T |
Gly138Gly |
M0000905 |
IPCGDNCJ_00117 |
115448 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
303T>C |
Arg101Arg |
M0000906 |
IPCGDNCJ_00117 |
115457 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
294A>G |
Leu98Leu |
M0000907 |
IPCGDNCJ_00117 |
115472 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
279G>A |
Glu93Glu |
M0000908 |
IPCGDNCJ_00117 |
115493 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
258T>C |
Tyr86Tyr |
M0000909 |
IPCGDNCJ_00117 |
115580 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
171C>T |
Ile57Ile |
M0000910 |
IPCGDNCJ_00117 |
115591 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
160A>G |
Thr54Ala |
M0000911 |
IPCGDNCJ_00117 |
115618 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
133A>G |
Lys45Glu |
M0000912 |
IPCGDNCJ_00117 |
115694 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
57T>C |
Ile19Ile |
M0000913 |
IPCGDNCJ_00113 |
115794 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4914A>C |
None |
M0000914 |
IPCGDNCJ_00114 |
115881 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4784A>T |
None |
M0000915 |
IPCGDNCJ_00114 |
115887 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4790A>T |
None |
M0000916 |
IPCGDNCJ_00114 |
115919 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4822C>T |
None |
M0000917 |
IPCGDNCJ_00114 |
116060 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4963G>A |
None |
M0000918 |
IPCGDNCJ_00115 |
116117 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2981G>A |
None |
M0000919 |
IPCGDNCJ_00115 |
116133 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2997A>G |
None |
M0000920 |
IPCGDNCJ_00115 |
116167 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3031A>G |
None |
M0000921 |
IPCGDNCJ_00118 |
116387 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
329G>A |
Arg110Lys |
M0000922 |
IPCGDNCJ_00118 |
116458 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
258A>G |
Lys86Lys |
M0000923 |
IPCGDNCJ_00118 |
116474 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
242A>C |
Asn81Thr |
M0000924 |
IPCGDNCJ_00118 |
116477 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
239A>G |
Asp80Gly |
M0000925 |
IPCGDNCJ_00118 |
116484 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
232A>T |
Thr78Ser |
M0000926 |
IPCGDNCJ_00118 |
116486 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
230G>A |
Arg77His |
M0000927 |
IPCGDNCJ_00118 |
116577 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
139A>G |
Ile47Val |
M0000928 |
IPCGDNCJ_00118 |
116604 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
112G>T |
Ala38Ser |
M0000929 |
IPCGDNCJ_00118 |
116637 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
79A>T |
Thr27Ser |
M0000930 |
IPCGDNCJ_00118 |
116641 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
75A>G |
Thr25Thr |
M0000931 |
IPCGDNCJ_00118 |
116653 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
63A>G |
Ala21Ala |
M0000932 |
IPCGDNCJ_00118 |
116654 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
62C>T |
Ala21Val |
M0000933 |
IPCGDNCJ_00118 |
116695 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
21C>A |
Val7Val |
M0000934 |
IPCGDNCJ_00115 |
116736 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3600A>T |
None |
M0000935 |
IPCGDNCJ_00115 |
116744 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3608T>C |
None |
M0000936 |
IPCGDNCJ_00115 |
116754 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3618A>G |
None |
M0000937 |
IPCGDNCJ_00119 |
116781 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
540T>C |
Phe180Phe |
M0000938 |
IPCGDNCJ_00119 |
116850 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
471T>A |
Ser157Ser |
M0000939 |
IPCGDNCJ_00119 |
116904 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
417T>C |
His139His |
M0000940 |
IPCGDNCJ_00119 |
117003 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
318A>G |
Thr106Thr |
M0000941 |
IPCGDNCJ_00119 |
117149 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
172T>C |
Leu58Leu |
M0000942 |
IPCGDNCJ_00115 |
117407 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4271A>C |
None |
M0000943 |
IPCGDNCJ_00115 |
117408 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4272T>G |
None |
M0000944 |
IPCGDNCJ_00115 |
117440 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4304C>A |
None |
M0000945 |
IPCGDNCJ_00115 |
117507 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4371C>T |
None |
M0000946 |
IPCGDNCJ_00115 |
117569 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4433A>T |
None |
M0000947 |
IPCGDNCJ_00120 |
117631 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
44T>C |
Val15Ala |
M0000948 |
IPCGDNCJ_00120 |
117635 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
48T>A |
Ala16Ala |
M0000949 |
IPCGDNCJ_00120 |
117656 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
69C>A |
Ala23Ala |
M0000950 |
IPCGDNCJ_00120 |
117689 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
102T>A |
Thr34Thr |
M0000951 |
IPCGDNCJ_00120 |
117696 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
109G>A |
Asp37Asn |
M0000952 |
IPCGDNCJ_00120 |
117758 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
171T>C |
Ser57Ser |
M0000953 |
IPCGDNCJ_00120 |
117794 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
207T>C |
Ser69Ser |
M0000954 |
IPCGDNCJ_00120 |
117893 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
306A>G |
Gln102Gln |
M0000955 |
IPCGDNCJ_00120 |
117971 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
384A>G |
Thr128Thr |
M0000956 |
IPCGDNCJ_00120 |
118004 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
417T>C |
Asn139Asn |
M0000957 |
IPCGDNCJ_00120 |
118022 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
435C>T |
Ser145Ser |
M0000958 |
IPCGDNCJ_00120 |
118058 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
471A>T |
Pro157Pro |
M0000959 |
IPCGDNCJ_00121 |
118201 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
723C>T |
His241His |
M0000960 |
IPCGDNCJ_00121 |
118233 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
691T>A |
Ser231Thr |
M0000961 |
IPCGDNCJ_00121 |
118249 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
675T>C |
Asp225Asp |
M0000962 |
IPCGDNCJ_00121 |
118288 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
636A>G |
Val212Val |
M0000963 |
IPCGDNCJ_00121 |
118333 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
591T>C |
Phe197Phe |
M0000964 |
IPCGDNCJ_00121 |
118345 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
579A>T |
Gly193Gly |
M0000965 |
IPCGDNCJ_00121 |
118369 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
555A>G |
Glu185Glu |
M0000966 |
IPCGDNCJ_00121 |
118546 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
378A>T |
Ala126Ala |
M0000967 |
IPCGDNCJ_00121 |
118587 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
337C>T |
Leu113Leu |
M0000968 |
IPCGDNCJ_00121 |
118588 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
336A>G |
Lys112Lys |
M0000969 |
IPCGDNCJ_00121 |
118674 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
250G>A |
Ala84Thr |
M0000970 |
IPCGDNCJ_00121 |
118717 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
207A>T |
Val69Val |
M0000971 |
IPCGDNCJ_00121 |
118732 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
192A>G |
Glu64Glu |
M0000972 |
IPCGDNCJ_00121 |
118741 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
183T>C |
His61His |
M0000973 |
IPCGDNCJ_00116 |
118991 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4683C>T |
None |
M0000974 |
IPCGDNCJ_00116 |
118992 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4684G>A |
None |
M0000975 |
IPCGDNCJ_00129 |
127702 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
543T>C |
Gly181Gly |
M0000976 |
IPCGDNCJ_00139 |
140304 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
957A>G |
Lys319Lys |
M0000977 |
IPCGDNCJ_00147 |
149733 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
96T>G |
Val32Val |
M0000978 |
IPCGDNCJ_00147 |
150033 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
396T>C |
Ile132Ile |
M0000979 |
IPCGDNCJ_00147 |
150165 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
528T>A |
Leu176Leu |
M0000980 |
IPCGDNCJ_00147 |
150264 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
627C>T |
Arg209Arg |
M0000981 |
IPCGDNCJ_00147 |
150417 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
780T>C |
Pro260Pro |
M0000982 |
IPCGDNCJ_00147 |
150488 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
851T>C |
Leu284Ser |
M0000983 |
IPCGDNCJ_00143 |
150587 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4862T>C |
None |
M0000984 |
IPCGDNCJ_00143 |
150626 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4901T>C |
None |
M0000985 |
IPCGDNCJ_00148 |
150712 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
729A>G |
Arg243Arg |
M0000986 |
IPCGDNCJ_00148 |
150837 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
604A>C |
Asn202His |
M0000987 |
IPCGDNCJ_00148 |
150859 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
582T>C |
Val194Val |
M0000988 |
IPCGDNCJ_00148 |
151049 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
392G>A |
Gly131Glu |
M0000989 |
IPCGDNCJ_00148 |
151089 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
352T>G |
Ser118Ala |
M0000990 |
IPCGDNCJ_00148 |
151179 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
262T>A |
Ser88Thr |
M0000991 |
IPCGDNCJ_00148 |
151298 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
143G>A |
Arg48Lys |
M0000992 |
IPCGDNCJ_00145 |
151550 |
11 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4139T>C |
None |
M0000993 |
IPCGDNCJ_00145 |
151650 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4239T>A |
None |
M0000994 |
IPCGDNCJ_00145 |
151675 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4264T>G |
None |
M0000995 |
IPCGDNCJ_00145 |
151676 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4265T>C |
None |
M0000996 |
IPCGDNCJ_00149 |
151742 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
28G>A |
Val10Ile |
M0000997 |
IPCGDNCJ_00149 |
151754 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
40A>T |
Ile14Leu |
M0000998 |
IPCGDNCJ_00149 |
151834 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Cys40Cys |
M0000999 |
IPCGDNCJ_00149 |
151849 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
135T>A |
Gly45Gly |
M0001000 |
IPCGDNCJ_00149 |
151867 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
153T>G |
Gly51Gly |
M0001001 |
IPCGDNCJ_00145 |
151986 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4575C>T |
None |
M0001002 |
IPCGDNCJ_00145 |
152021 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4610G>A |
None |
M0001003 |
IPCGDNCJ_00150 |
152482 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
366C>T |
Asp122Asp |
M0001004 |
IPCGDNCJ_00150 |
152509 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
393T>C |
Asn131Asn |
M0001005 |
IPCGDNCJ_00150 |
152592 |
24 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
476G>A |
Ser159Asn |
M0001006 |
IPCGDNCJ_00150 |
152689 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
573T>G |
Leu191Leu |
M0001007 |
IPCGDNCJ_00150 |
152692 |
20 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
576C>T |
Ile192Ile |
M0001008 |
IPCGDNCJ_00150 |
152698 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
582T>C |
Phe194Phe |
M0001009 |
IPCGDNCJ_00150 |
152700 |
25 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
584A>G |
Asp195Gly |
M0001010 |
IPCGDNCJ_00150 |
152701 |
23 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
585T>C |
Asp195Asp |
M0001011 |
IPCGDNCJ_00150 |
152752 |
24 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Gly212Gly |
M0001012 |
IPCGDNCJ_00150 |
152884 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
768T>A |
Asp256Glu |
M0001013 |
IPCGDNCJ_00150 |
152887 |
20 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
771G>T |
Val257Val |
M0001014 |
IPCGDNCJ_00150 |
152896 |
20 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
780T>C |
Arg260Arg |
M0001015 |
IPCGDNCJ_00150 |
152905 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
789A>G |
Glu263Glu |
M0001016 |
IPCGDNCJ_00150 |
152962 |
20 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
846T>C |
Ala282Ala |
M0001017 |
IPCGDNCJ_00150 |
152968 |
23 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
852A>G |
Val284Val |
M0001018 |
IPCGDNCJ_00150 |
152974 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
858G>A |
Val286Val |
M0001019 |
IPCGDNCJ_00150 |
153064 |
24 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
948G>C |
Val316Val |
M0001020 |
IPCGDNCJ_00150 |
153082 |
24 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
966T>C |
Leu322Leu |
M0001021 |
IPCGDNCJ_00150 |
153088 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
972A>T |
Pro324Pro |
M0001022 |
IPCGDNCJ_00150 |
153196 |
25 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1080C>T |
Ile360Ile |
M0001023 |
IPCGDNCJ_00150 |
153223 |
27 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1107T>C |
Ile369Ile |
M0001024 |
IPCGDNCJ_00150 |
153256 |
28 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1140A>G |
Ile380Met |
M0001025 |
IPCGDNCJ_00150 |
153268 |
28 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1152A>C |
Ile384Ile |
M0001026 |
IPCGDNCJ_00150 |
153274 |
24 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1158T>C |
Asp386Asp |
M0001027 |
IPCGDNCJ_00150 |
153304 |
23 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1188G>A |
Ala396Ala |
M0001028 |
IPCGDNCJ_00150 |
153341 |
24 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1225T>G |
Ser409Ala |
M0001029 |
IPCGDNCJ_00150 |
153355 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1239C>T |
Gly413Gly |
M0001030 |
IPCGDNCJ_00150 |
153385 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1269T>C |
Asp423Asp |
M0001031 |
IPCGDNCJ_00150 |
153406 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1290C>T |
Ile430Ile |
M0001032 |
IPCGDNCJ_00150 |
153416 |
24 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1300T>C |
Leu434Leu |
M0001033 |
IPCGDNCJ_00150 |
153431 |
25 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1315A>G |
Asn439Asp |
M0001034 |
IPCGDNCJ_00150 |
153537 |
24 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1421A>C |
Glu474Ala |
M0001035 |
IPCGDNCJ_00150 |
153652 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1536T>A |
Ser512Ser |
M0001036 |
IPCGDNCJ_00150 |
153779 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1663T>C |
Leu555Leu |
M0001037 |
IPCGDNCJ_00150 |
153942 |
23 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1826A>G |
His609Arg |
M0001038 |
IPCGDNCJ_00150 |
153977 |
23 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1861A>G |
Asn621Asp |
M0001039 |
IPCGDNCJ_00150 |
153999 |
23 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1883C>T |
Thr628Ile |
M0001040 |
IPCGDNCJ_00150 |
154106 |
24 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1990A>C |
Ile664Leu |
M0001041 |
IPCGDNCJ_00150 |
154131 |
23 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2015T>C |
Val672Ala |
M0001042 |
IPCGDNCJ_00150 |
154198 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2082T>C |
Ile694Ile |
M0001043 |
IPCGDNCJ_00150 |
154216 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2100C>T |
Gly700Gly |
M0001044 |
IPCGDNCJ_00150 |
154289 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2173A>G |
Lys725Glu |
M0001045 |
IPCGDNCJ_00150 |
154296 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2180C>A |
Pro727His |
M0001046 |
IPCGDNCJ_00150 |
154344 |
25 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2228G>A |
Arg743Gln |
M0001047 |
IPCGDNCJ_00150 |
154364 |
25 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2248A>G |
Asn750Asp |
M0001048 |
IPCGDNCJ_00150 |
154365 |
25 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2249A>G |
Asn750Ser |
M0001049 |
IPCGDNCJ_00150 |
154369 |
25 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2253A>G |
Gln751Gln |
M0001050 |
IPCGDNCJ_00150 |
154372 |
25 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2256A>T |
Ala752Ala |
M0001051 |
IPCGDNCJ_00150 |
154378 |
23 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2262T>C |
Asp754Asp |
M0001052 |
IPCGDNCJ_00150 |
154489 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2373C>T |
Arg791Arg |
M0001053 |
IPCGDNCJ_00150 |
154529 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2413T>C |
Ser805Pro |
M0001054 |
IPCGDNCJ_00150 |
154639 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2523T>C |
Leu841Leu |
M0001055 |
IPCGDNCJ_00150 |
154649 |
22 |
Skin |
0.05 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
2533T>C |
Ter845Glnext*? |
M0001056 |
IPCGDNCJ_00148 |
154682 |
18 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3242C>T |
None |
M0001057 |
IPCGDNCJ_00148 |
154696 |
19 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3256G>A |
None |
M0001058 |
IPCGDNCJ_00148 |
154697 |
19 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3257T>G |
None |
M0001059 |
IPCGDNCJ_00148 |
154699 |
19 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3259G>T |
None |
M0001060 |
IPCGDNCJ_00151 |
154710 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2T>A |
Val1Glu |
M0001061 |
IPCGDNCJ_00151 |
154756 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
48T>A |
Asp16Glu |
M0001062 |
IPCGDNCJ_00151 |
154773 |
25 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
65G>A |
Gly22Asp |
M0001063 |
IPCGDNCJ_00151 |
154898 |
25 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
190T>G |
Tyr64Asp |
M0001064 |
IPCGDNCJ_00152 |
155070 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
84C>T |
Gly28Gly |
M0001065 |
IPCGDNCJ_00152 |
155072 |
24 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
86A>G |
Asp29Gly |
M0001066 |
IPCGDNCJ_00152 |
155075 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
89G>A |
Ser30Asn |
M0001067 |
IPCGDNCJ_00152 |
155077 |
25 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
91A>G |
Arg31Gly |
M0001068 |
IPCGDNCJ_00152 |
155090 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
104A>G |
Asp35Gly |
M0001069 |
IPCGDNCJ_00152 |
155091 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
105T>C |
Asp35Asp |
M0001070 |
IPCGDNCJ_00152 |
155103 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
117G>A |
Ser39Ser |
M0001071 |
IPCGDNCJ_00152 |
155196 |
23 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
210T>A |
Gly70Gly |
M0001072 |
IPCGDNCJ_00152 |
155218 |
24 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
232A>G |
Ile78Val |
M0001073 |
IPCGDNCJ_00152 |
155283 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
297C>T |
Gly99Gly |
M0001074 |
IPCGDNCJ_00152 |
155298 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
312T>A |
Thr104Thr |
M0001075 |
IPCGDNCJ_00152 |
155322 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
336C>T |
Phe112Phe |
M0001076 |
IPCGDNCJ_00152 |
155342 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
356G>A |
Cys119Tyr |
M0001077 |
IPCGDNCJ_00152 |
155388 |
24 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
402C>T |
Val134Val |
M0001078 |
IPCGDNCJ_00152 |
155405 |
24 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
419T>A |
Val140Asp |
M0001079 |
IPCGDNCJ_00152 |
155658 |
24 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
672C>T |
Ser224Ser |
M0001080 |
IPCGDNCJ_00152 |
155874 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
888T>C |
Asp296Asp |
M0001081 |
IPCGDNCJ_00152 |
155896 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
910G>A |
Asp304Asn |
M0001082 |
IPCGDNCJ_00152 |
155923 |
23 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
937C>T |
Leu313Leu |
M0001083 |
IPCGDNCJ_00148 |
155996 |
18 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4556G>A |
None |
M0001084 |
IPCGDNCJ_00153 |
156185 |
19 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
54C>T |
Phe18Phe |
M0001085 |
IPCGDNCJ_00153 |
156215 |
19 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
84G>A |
Glu28Glu |
M0001086 |
IPCGDNCJ_00153 |
156310 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
179C>A |
Pro60His |
M0001087 |
IPCGDNCJ_00153 |
156314 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
183A>G |
Pro61Pro |
M0001088 |
IPCGDNCJ_00153 |
156323 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
192G>A |
Thr64Thr |
M0001089 |
IPCGDNCJ_00153 |
156356 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
225G>C |
Gln75His |
M0001090 |
IPCGDNCJ_00153 |
156452 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
321C>A |
Val107Val |
M0001091 |
IPCGDNCJ_00154 |
156959 |
25 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
516G>A |
Thr172Thr |
M0001092 |
IPCGDNCJ_00154 |
157016 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
459A>G |
Gln153Gln |
M0001093 |
IPCGDNCJ_00154 |
157021 |
23 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
454A>C |
Ile152Leu |
M0001094 |
IPCGDNCJ_00154 |
157076 |
24 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
399T>C |
Val133Val |
M0001095 |
IPCGDNCJ_00154 |
157364 |
19 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Asp37Asp |
M0001096 |
IPCGDNCJ_00155 |
157586 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
920A>G |
Asp307Gly |
M0001097 |
IPCGDNCJ_00155 |
157768 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
738C>T |
Asn246Asn |
M0001098 |
IPCGDNCJ_00155 |
157801 |
20 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
705A>C |
Ile235Ile |
M0001099 |
IPCGDNCJ_00155 |
158083 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
423G>A |
Glu141Glu |
M0001100 |
IPCGDNCJ_00155 |
158101 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
405T>G |
Ala135Ala |
M0001101 |
IPCGDNCJ_00155 |
158185 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
321G>A |
Ser107Ser |
M0001102 |
IPCGDNCJ_00155 |
158223 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
283A>C |
Arg95Arg |
M0001103 |
IPCGDNCJ_00154 |
158516 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1042A>G |
None |
M0001104 |
IPCGDNCJ_00156 |
158673 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
676T>A |
Ser226Thr |
M0001105 |
IPCGDNCJ_00156 |
158727 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
622T>G |
Ser208Ala |
M0001106 |
IPCGDNCJ_00156 |
158740 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
609A>G |
Glu203Glu |
M0001107 |
IPCGDNCJ_00156 |
158890 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
459C>A |
Val153Val |
M0001108 |
IPCGDNCJ_00156 |
158893 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
456C>T |
Pro152Pro |
M0001109 |
IPCGDNCJ_00156 |
158899 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
450C>T |
Gly150Gly |
M0001110 |
IPCGDNCJ_00156 |
158905 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
444G>A |
Pro148Pro |
M0001111 |
IPCGDNCJ_00156 |
159043 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
306T>G |
Ser102Ser |
M0001112 |
IPCGDNCJ_00156 |
159079 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
270A>T |
Ala90Ala |
M0001113 |
IPCGDNCJ_00156 |
159115 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
234T>C |
Asn78Asn |
M0001114 |
IPCGDNCJ_00156 |
159252 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
97C>A |
Pro33Thr |
M0001115 |
IPCGDNCJ_00154 |
159506 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2032T>G |
None |
M0001116 |
IPCGDNCJ_00157 |
159522 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1165C>T |
His389Tyr |
M0001117 |
IPCGDNCJ_00157 |
159712 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
975T>G |
Gly325Gly |
M0001118 |
IPCGDNCJ_00157 |
159715 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
972A>G |
Val324Val |
M0001119 |
IPCGDNCJ_00157 |
159751 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
936C>T |
Gly312Gly |
M0001120 |
IPCGDNCJ_00157 |
159754 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
933T>A |
Ala311Ala |
M0001121 |
IPCGDNCJ_00157 |
159976 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
711C>A |
Ile237Ile |
M0001122 |
IPCGDNCJ_00157 |
160303 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
384C>A |
Pro128Pro |
M0001123 |
IPCGDNCJ_00157 |
160362 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
325G>A |
Val109Ile |
M0001124 |
IPCGDNCJ_00157 |
160452 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
235G>A |
Val79Met |
M0001125 |
IPCGDNCJ_00157 |
160534 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
153G>T |
Val51Val |
M0001126 |
IPCGDNCJ_00157 |
160537 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
150A>T |
Gly50Gly |
M0001127 |
IPCGDNCJ_00154 |
160718 |
15 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3244C>T |
None |
M0001128 |
IPCGDNCJ_00154 |
160771 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3297G>C |
None |
M0001129 |
IPCGDNCJ_00154 |
160772 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3298G>A |
None |
M0001130 |
IPCGDNCJ_00154 |
160824 |
11 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3350G>A |
None |
M0001131 |
IPCGDNCJ_00154 |
160879 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3405T>C |
None |
M0001132 |
IPCGDNCJ_00154 |
160882 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3408C>A |
None |
M0001133 |
IPCGDNCJ_00158 |
160975 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
45C>T |
Asp15Asp |
M0001134 |
IPCGDNCJ_00158 |
160985 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
55T>C |
Ser19Pro |
M0001135 |
IPCGDNCJ_00158 |
161044 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
114G>A |
Glu38Glu |
M0001136 |
IPCGDNCJ_00158 |
161125 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
195A>C |
Pro65Pro |
M0001137 |
IPCGDNCJ_00158 |
161148 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
218A>C |
Asp73Ala |
M0001138 |
IPCGDNCJ_00158 |
161150 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
220A>G |
Thr74Ala |
M0001139 |
IPCGDNCJ_00158 |
161170 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
240G>A |
Lys80Lys |
M0001140 |
IPCGDNCJ_00158 |
161179 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
249C>T |
Ser83Ser |
M0001141 |
IPCGDNCJ_00158 |
161186 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
256C>A |
Pro86Thr |
M0001142 |
IPCGDNCJ_00158 |
161200 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
270A>T |
Ser90Ser |
M0001143 |
IPCGDNCJ_00158 |
161212 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
282C>T |
Val94Val |
M0001144 |
IPCGDNCJ_00158 |
161218 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
288T>A |
Val96Val |
M0001145 |
IPCGDNCJ_00158 |
161302 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
372T>C |
Phe124Phe |
M0001146 |
IPCGDNCJ_00158 |
161306 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
376T>C |
Leu126Leu |
M0001147 |
IPCGDNCJ_00158 |
161614 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
684C>A |
Gly228Gly |
M0001148 |
IPCGDNCJ_00158 |
161662 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
732G>A |
Val244Val |
M0001149 |
IPCGDNCJ_00077 |
83098 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
819T>C |
Phe273Phe |
M0001150 |
IPCGDNCJ_00077 |
83224 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
693G>A |
Ala231Ala |
M0001151 |
IPCGDNCJ_00077 |
83296 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
621G>A |
Leu207Leu |
M0001152 |
IPCGDNCJ_00077 |
83344 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
573C>T |
Ser191Ser |
M0001153 |
IPCGDNCJ_00077 |
83365 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
552C>T |
Leu184Leu |
M0001154 |
IPCGDNCJ_00077 |
83398 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
519T>A |
Ile173Ile |
M0001155 |
IPCGDNCJ_00077 |
83403 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
514G>A |
Val172Ile |
M0001156 |
IPCGDNCJ_00077 |
83410 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
507A>G |
Val169Val |
M0001157 |
IPCGDNCJ_00077 |
83414 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
503G>T |
Gly168Val |
M0001158 |
IPCGDNCJ_00077 |
83415 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
502G>A |
Gly168Ser |
M0001159 |
IPCGDNCJ_00077 |
83425 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
492A>G |
Val164Val |
M0001160 |
IPCGDNCJ_00077 |
83467 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
450A>G |
Pro150Pro |
M0001161 |
IPCGDNCJ_00077 |
83478 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
439A>G |
Ile147Val |
M0001162 |
IPCGDNCJ_00077 |
83533 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
384C>T |
Gly128Gly |
M0001163 |
IPCGDNCJ_00077 |
83647 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
270G>A |
Val90Val |
M0001164 |
IPCGDNCJ_00077 |
83656 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
261A>G |
Glu87Glu |
M0001165 |
IPCGDNCJ_00077 |
83758 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
159A>G |
Thr53Thr |
M0001166 |
IPCGDNCJ_00077 |
83767 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
150T>C |
His50His |
M0001167 |
IPCGDNCJ_00077 |
83773 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
144A>G |
Gln48Gln |
M0001168 |
IPCGDNCJ_00077 |
83788 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
129G>A |
Gln43Gln |
M0001169 |
IPCGDNCJ_00077 |
83853 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
64G>A |
Val22Ile |
M0001170 |
IPCGDNCJ_00078 |
84155 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
513G>A |
Gly171Gly |
M0001171 |
IPCGDNCJ_00078 |
84158 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
510A>T |
Thr170Thr |
M0001172 |
IPCGDNCJ_00078 |
84185 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
483C>T |
Pro161Pro |
M0001173 |
IPCGDNCJ_00078 |
84203 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
465A>C |
Arg155Arg |
M0001174 |
IPCGDNCJ_00078 |
84332 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
336A>T |
Ser112Ser |
M0001175 |
IPCGDNCJ_00078 |
84422 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
246A>T |
Arg82Arg |
M0001176 |
IPCGDNCJ_00078 |
84423 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
245G>A |
Arg82Gln |
M0001177 |
IPCGDNCJ_00078 |
84494 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
174G>A |
Val58Val |
M0001178 |
IPCGDNCJ_00078 |
84515 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
153T>C |
Leu51Leu |
M0001179 |
IPCGDNCJ_00078 |
84539 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
129A>G |
Ser43Ser |
M0001180 |
IPCGDNCJ_00078 |
84545 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
123A>T |
Ser41Ser |
M0001181 |
IPCGDNCJ_00078 |
84647 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
21C>T |
Asn7Asn |
M0001182 |
IPCGDNCJ_00075 |
84696 |
11 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4145A>T |
None |
M0001183 |
IPCGDNCJ_00079 |
85137 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
543T>A |
Ile181Ile |
M0001184 |
IPCGDNCJ_00079 |
85161 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
519G>A |
Gln173Gln |
M0001185 |
IPCGDNCJ_00079 |
85184 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
496C>T |
Leu166Leu |
M0001186 |
IPCGDNCJ_00079 |
85196 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
484T>C |
Leu162Leu |
M0001187 |
IPCGDNCJ_00079 |
85217 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
463A>T |
Thr155Ser |
M0001188 |
IPCGDNCJ_00079 |
85422 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
258T>A |
Val86Val |
M0001189 |
IPCGDNCJ_00079 |
85469 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
211A>G |
Ile71Val |
M0001190 |
IPCGDNCJ_00079 |
85529 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
151T>G |
Phe51Val |
M0001191 |
IPCGDNCJ_00079 |
85668 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
12G>A |
Leu4Leu |
M0001192 |
IPCGDNCJ_00080 |
85904 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
441T>C |
Asp147Asp |
M0001193 |
IPCGDNCJ_00080 |
86042 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
303A>G |
Pro101Pro |
M0001194 |
IPCGDNCJ_00080 |
86102 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
243T>C |
Thr81Thr |
M0001195 |
IPCGDNCJ_00080 |
86108 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
237G>A |
Ser79Ser |
M0001196 |
IPCGDNCJ_00080 |
86186 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
159C>T |
Asn53Asn |
M0001197 |
IPCGDNCJ_00076 |
86547 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4870G>A |
None |
M0001198 |
IPCGDNCJ_00076 |
86563 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4886G>C |
None |
M0001199 |
IPCGDNCJ_00076 |
86570 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4893A>T |
None |
M0001200 |
IPCGDNCJ_00076 |
86629 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4952G>A |
None |
M0001201 |
IPCGDNCJ_00076 |
86635 |
20 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4958A>G |
None |
M0001202 |
IPCGDNCJ_00076 |
86652 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4975G>A |
None |
M0001203 |
IPCGDNCJ_00076 |
86654 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4977T>A |
None |
M0001204 |
IPCGDNCJ_00076 |
86660 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4983A>T |
None |
M0001205 |
IPCGDNCJ_00077 |
86763 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2847A>T |
None |
M0001206 |
IPCGDNCJ_00082 |
86916 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
64T>A |
Leu22Ile |
M0001207 |
IPCGDNCJ_00082 |
86955 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
103A>G |
Thr35Ala |
M0001208 |
IPCGDNCJ_00082 |
87443 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
591T>C |
Asn197Asn |
M0001209 |
IPCGDNCJ_00082 |
87737 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
885C>A |
Ile295Ile |
M0001210 |
IPCGDNCJ_00082 |
87836 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
984C>T |
His328His |
M0001211 |
IPCGDNCJ_00082 |
87851 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
999C>T |
Val333Val |
M0001212 |
IPCGDNCJ_00082 |
87854 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1002A>G |
Val334Val |
M0001213 |
IPCGDNCJ_00082 |
87887 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1035A>G |
Thr345Thr |
M0001214 |
IPCGDNCJ_00082 |
88004 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1152A>C |
Lys384Asn |
M0001215 |
IPCGDNCJ_00082 |
88112 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1260G>A |
Lys420Lys |
M0001216 |
IPCGDNCJ_00082 |
88167 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1315A>G |
Thr439Ala |
M0001217 |
IPCGDNCJ_00077 |
88339 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4423T>A |
None |
M0001218 |
IPCGDNCJ_00077 |
88384 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4468T>A |
None |
M0001219 |
IPCGDNCJ_00077 |
88454 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4538A>C |
None |
M0001220 |
IPCGDNCJ_00077 |
88496 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4580A>C |
None |
M0001221 |
IPCGDNCJ_00083 |
88626 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
187A>G |
Ile63Val |
M0001222 |
IPCGDNCJ_00083 |
88670 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
143C>T |
Ser48Leu |
M0001223 |
IPCGDNCJ_00084 |
88803 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1271C>T |
Thr424Ile |
M0001224 |
IPCGDNCJ_00084 |
88895 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1179A>T |
Val393Val |
M0001225 |
IPCGDNCJ_00084 |
88942 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1132C>T |
Leu378Leu |
M0001226 |
IPCGDNCJ_00084 |
89015 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1059G>A |
Thr353Thr |
M0001227 |
IPCGDNCJ_00084 |
89109 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
965G>A |
Arg322Lys |
M0001228 |
IPCGDNCJ_00084 |
89231 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
843A>G |
Leu281Leu |
M0001229 |
IPCGDNCJ_00084 |
89538 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
536A>T |
Lys179Met |
M0001230 |
IPCGDNCJ_00084 |
89669 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
405A>T |
Gly135Gly |
M0001231 |
IPCGDNCJ_00084 |
89759 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
315G>A |
Lys105Lys |
M0001232 |
IPCGDNCJ_00084 |
89765 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
309C>T |
Gly103Gly |
M0001233 |
IPCGDNCJ_00084 |
89801 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
273A>T |
Leu91Leu |
M0001234 |
IPCGDNCJ_00084 |
89885 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
189T>C |
Ile63Ile |
M0001235 |
IPCGDNCJ_00084 |
89963 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
111G>A |
Lys37Lys |
M0001236 |
IPCGDNCJ_00084 |
89990 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
84T>C |
Ile28Ile |
M0001237 |
IPCGDNCJ_00084 |
90058 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
16C>T |
Leu6Leu |
M0001238 |
IPCGDNCJ_00198 |
211324 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3523T>A |
None |
M0001239 |
IPCGDNCJ_00205 |
214567 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
136A>G |
Ser46Gly |
M0001240 |
IPCGDNCJ_00128 |
125698 |
13 |
Skin |
0.03 |
protein_coding |
stop_gained |
HIGH |
1006C>T |
Gln336* |
M0001241 |
IPCGDNCJ_00134 |
130634 |
35 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
622G>A |
Val208Ile |
M0001242 |
IPCGDNCJ_00036 |
32062 |
15 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
817G>T |
Asp273Tyr |
M0001243 |
IPCGDNCJ_00036 |
32361 |
16 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
518T>C |
Leu173Ser |
M0001244 |
IPCGDNCJ_00036 |
32825 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
54T>G |
Cys18Trp |
M0001245 |
IPCGDNCJ_00032 |
32958 |
18 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4999T>C |
None |
M0001246 |
IPCGDNCJ_00034 |
33937 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2713C>T |
None |
M0001247 |
IPCGDNCJ_00034 |
33983 |
26 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2759T>C |
None |
M0001248 |
IPCGDNCJ_00038 |
34236 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
210C>A |
Gly70Gly |
M0001249 |
IPCGDNCJ_00038 |
34247 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
221G>A |
Arg74His |
M0001250 |
IPCGDNCJ_00038 |
34288 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
262G>A |
Val88Met |
M0001251 |
IPCGDNCJ_00077 |
88442 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4526A>T |
None |
M0001252 |
IPCGDNCJ_00079 |
90618 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4939A>C |
None |
M0001253 |
IPCGDNCJ_00086 |
90725 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
96C>T |
Asp32Asp |
M0001254 |
IPCGDNCJ_00086 |
91085 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
456C>G |
Pro152Pro |
M0001255 |
IPCGDNCJ_00043 |
45084 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3840A>C |
None |
M0001256 |
IPCGDNCJ_00181 |
188042 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1272T>C |
Pro424Pro |
M0001257 |
IPCGDNCJ_00182 |
188625 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
127C>T |
Arg43Cys |
M0001258 |
IPCGDNCJ_00182 |
188628 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
130G>T |
Ala44Ser |
M0001259 |
IPCGDNCJ_00182 |
188630 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
132G>T |
Ala44Ala |
M0001260 |
IPCGDNCJ_00182 |
188732 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
234T>C |
Thr78Thr |
M0001261 |
IPCGDNCJ_00182 |
188750 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
252C>A |
Phe84Leu |
M0001262 |
IPCGDNCJ_00182 |
189530 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1032T>C |
Thr344Thr |
M0001263 |
IPCGDNCJ_00183 |
190272 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
226A>C |
Lys76Gln |
M0001264 |
IPCGDNCJ_00183 |
190288 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
242G>C |
Gly81Ala |
M0001265 |
IPCGDNCJ_00183 |
190295 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
249T>C |
Tyr83Tyr |
M0001266 |
IPCGDNCJ_00180 |
190481 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3939T>A |
None |
M0001267 |
IPCGDNCJ_00184 |
190559 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1116A>T |
Ile372Ile |
M0001268 |
IPCGDNCJ_00184 |
190844 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
831G>A |
Leu277Leu |
M0001269 |
IPCGDNCJ_00184 |
190885 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
790T>C |
Tyr264His |
M0001270 |
IPCGDNCJ_00184 |
190935 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
740C>T |
Ser247Phe |
M0001271 |
IPCGDNCJ_00184 |
191543 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
132T>C |
Gly44Gly |
M0001272 |
IPCGDNCJ_00184 |
191597 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
78T>C |
Thr26Thr |
M0001273 |
IPCGDNCJ_00184 |
191782 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-108C>T |
None |
M0001274 |
IPCGDNCJ_00184 |
191931 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-257A>C |
None |
M0001275 |
IPCGDNCJ_00184 |
192449 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-775A>G |
None |
M0001276 |
IPCGDNCJ_00184 |
192638 |
25 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-964C>T |
None |
M0001277 |
IPCGDNCJ_00231 |
247288 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
696A>G |
Ala232Ala |
M0001278 |
IPCGDNCJ_00232 |
253643 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4222C>A |
None |
M0001279 |
IPCGDNCJ_00163 |
164624 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
187G>C |
Val63Leu |
M0001280 |
IPCGDNCJ_00171 |
174801 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Thr78Thr |
M0001281 |
IPCGDNCJ_00172 |
175816 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
3340T>G |
Ser1114Ala |
M0001282 |
IPCGDNCJ_00172 |
176444 |
19 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2712A>C |
Glu904Asp |
M0001283 |
IPCGDNCJ_00172 |
179134 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
22G>A |
Ala8Thr |
M0001284 |
IPCGDNCJ_00172 |
180337 |
19 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1182C>T |
None |
M0001285 |
IPCGDNCJ_00175 |
181753 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
129G>A |
Leu43Leu |
M0001286 |
IPCGDNCJ_00179 |
185253 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
199T>C |
Ser67Pro |
M0001287 |
IPCGDNCJ_00182 |
189590 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1092C>T |
Ile364Ile |
M0001288 |
IPCGDNCJ_00184 |
193438 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1764A>T |
None |
M0001289 |
IPCGDNCJ_00195 |
202370 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
600C>T |
Asp200Asp |
M0001290 |
IPCGDNCJ_00195 |
202382 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
612C>T |
Tyr204Tyr |
M0001291 |
IPCGDNCJ_00195 |
202385 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
615T>A |
Thr205Thr |
M0001292 |
IPCGDNCJ_00182 |
189425 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
927C>T |
Pro309Pro |
M0001293 |
IPCGDNCJ_00032 |
27549 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
411A>T |
Leu137Phe |
M0001294 |
IPCGDNCJ_00032 |
27917 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
43T>C |
Tyr15His |
M0001295 |
IPCGDNCJ_00029 |
28267 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3339A>G |
None |
M0001296 |
IPCGDNCJ_00029 |
28541 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3613T>C |
None |
M0001297 |
IPCGDNCJ_00033 |
28575 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
28G>A |
Ala10Thr |
M0001298 |
IPCGDNCJ_00033 |
28778 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
231T>G |
Ser77Ser |
M0001299 |
IPCGDNCJ_00033 |
29203 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
656T>A |
Leu219His |
M0001300 |
IPCGDNCJ_00033 |
29245 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
698T>C |
Val233Ala |
M0001301 |
IPCGDNCJ_00033 |
29330 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
783A>G |
Ile261Met |
M0001302 |
IPCGDNCJ_00033 |
29457 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
910G>A |
Val304Ile |
M0001303 |
IPCGDNCJ_00029 |
29856 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4928C>A |
None |
M0001304 |
IPCGDNCJ_00029 |
29874 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4946G>A |
None |
M0001305 |
IPCGDNCJ_00034 |
29967 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1258C>G |
Leu420Val |
M0001306 |
IPCGDNCJ_00034 |
30413 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
812C>T |
Ser271Leu |
M0001307 |
IPCGDNCJ_00035 |
31732 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
226C>T |
His76Tyr |
M0001308 |
IPCGDNCJ_00036 |
32441 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
438T>A |
Gly146Gly |
M0001309 |
IPCGDNCJ_00036 |
32549 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
330G>A |
Lys110Lys |
M0001310 |
IPCGDNCJ_00037 |
33456 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
237C>T |
Gly79Gly |
M0001311 |
IPCGDNCJ_00233 |
254500 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4207T>A |
None |
M0001312 |
IPCGDNCJ_00235 |
255861 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3452G>T |
None |
M0001313 |
IPCGDNCJ_00192 |
196978 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
75G>A |
Leu25Leu |
M0001314 |
IPCGDNCJ_00195 |
203116 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1346A>G |
Lys449Arg |
M0001315 |
IPCGDNCJ_00196 |
205057 |
5 |
Skin |
0.01 |
protein_coding |
stop_gained |
HIGH |
375T>A |
Tyr125* |
M0001316 |
IPCGDNCJ_00203 |
211955 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
427A>G |
Asn143Asp |
M0001317 |
IPCGDNCJ_00116 |
119038 |
19 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4730T>C |
None |
M0001318 |
IPCGDNCJ_00040 |
37126 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
904A>G |
Thr302Ala |
M0001319 |
IPCGDNCJ_00051 |
51105 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
269C>T |
Pro90Leu |
M0001320 |
IPCGDNCJ_00160 |
162925 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
20C>T |
Ala7Val |
M0001321 |
IPCGDNCJ_00161 |
163557 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
23A>G |
Lys8Arg |
M0001322 |
IPCGDNCJ_00079 |
90496 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4817A>T |
None |
M0001323 |
IPCGDNCJ_00278 |
296878 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
243A>G |
Leu81Leu |
M0001324 |
IPCGDNCJ_00278 |
296933 |
19 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
188T>C |
Leu63Pro |
M0001325 |
IPCGDNCJ_00278 |
296983 |
20 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
138C>A |
Asp46Glu |
M0001326 |
IPCGDNCJ_00278 |
297065 |
15 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
56T>C |
Phe19Ser |
M0001327 |
IPCGDNCJ_00279 |
297254 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
840A>G |
Gln280Gln |
M0001328 |
IPCGDNCJ_00279 |
297275 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
819A>G |
Lys273Lys |
M0001329 |
IPCGDNCJ_00279 |
297296 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
798C>T |
Ala266Ala |
M0001330 |
IPCGDNCJ_00279 |
297326 |
21 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
768T>C |
Asp256Asp |
M0001331 |
IPCGDNCJ_00279 |
297475 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
619A>G |
Lys207Glu |
M0001332 |
IPCGDNCJ_00279 |
297509 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
585C>T |
Ser195Ser |
M0001333 |
IPCGDNCJ_00279 |
297542 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
552C>T |
Tyr184Tyr |
M0001334 |
IPCGDNCJ_00279 |
297578 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
516C>T |
Ser172Ser |
M0001335 |
IPCGDNCJ_00279 |
297619 |
22 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
475C>T |
Arg159Trp |
M0001336 |
IPCGDNCJ_00279 |
297663 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
431C>G |
Pro144Arg |
M0001337 |
IPCGDNCJ_00279 |
297685 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
409G>T |
Val137Leu |
M0001338 |
IPCGDNCJ_00279 |
297692 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
402C>T |
Asn134Asn |
M0001339 |
IPCGDNCJ_00279 |
297720 |
20 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
374T>C |
Leu125Pro |
M0001340 |
IPCGDNCJ_00279 |
297866 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
228T>C |
Ser76Ser |
M0001341 |
IPCGDNCJ_00279 |
297883 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
211C>G |
Gln71Glu |
M0001342 |
IPCGDNCJ_00280 |
298223 |
19 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
843G>A |
Arg281Arg |
M0001343 |
IPCGDNCJ_00280 |
298244 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
822C>T |
Ile274Ile |
M0001344 |
IPCGDNCJ_00280 |
298266 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
800C>A |
Thr267Asn |
M0001345 |
IPCGDNCJ_00280 |
298472 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
594A>G |
Gly198Gly |
M0001346 |
IPCGDNCJ_00280 |
298478 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
588C>T |
Arg196Arg |
M0001347 |
IPCGDNCJ_00280 |
298508 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
558C>T |
Asp186Asp |
M0001348 |
IPCGDNCJ_00280 |
298511 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
555G>T |
Glu185Asp |
M0001349 |
IPCGDNCJ_00280 |
298517 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
549G>A |
Thr183Thr |
M0001350 |
IPCGDNCJ_00280 |
298712 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
354T>C |
Asp118Asp |
M0001351 |
IPCGDNCJ_00280 |
298745 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
321C>T |
Ser107Ser |
M0001352 |
IPCGDNCJ_00280 |
298761 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
305C>T |
Ala102Val |
M0001353 |
IPCGDNCJ_00280 |
298838 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
228G>T |
Ala76Ala |
M0001354 |
IPCGDNCJ_00280 |
298843 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
223A>C |
Asn75His |
M0001355 |
IPCGDNCJ_00155 |
158291 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
215G>A |
Gly72Asp |
M0001356 |
IPCGDNCJ_00164 |
164978 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1274C>T |
Ser425Leu |
M0001357 |
IPCGDNCJ_00165 |
167039 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
714G>A |
Val238Val |
M0001358 |
IPCGDNCJ_00169 |
172469 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1356G>T |
Gly452Gly |
M0001359 |
IPCGDNCJ_00278 |
296272 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
849A>T |
Glu283Asp |
M0001360 |
IPCGDNCJ_00278 |
296297 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
824T>G |
Ile275Ser |
M0001361 |
IPCGDNCJ_00278 |
296377 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
744A>G |
Leu248Leu |
M0001362 |
IPCGDNCJ_00278 |
296383 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
738A>T |
Leu246Leu |
M0001363 |
IPCGDNCJ_00278 |
296392 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
729C>T |
Leu243Leu |
M0001364 |
IPCGDNCJ_00278 |
296463 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
658A>C |
Thr220Pro |
M0001365 |
IPCGDNCJ_00278 |
296536 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
585G>A |
Leu195Leu |
M0001366 |
IPCGDNCJ_00278 |
296581 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
540G>A |
Glu180Glu |
M0001367 |
IPCGDNCJ_00278 |
296602 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
519A>G |
Arg173Arg |
M0001368 |
IPCGDNCJ_00278 |
296614 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
507T>A |
His169Gln |
M0001369 |
IPCGDNCJ_00278 |
296617 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
504G>A |
Leu168Leu |
M0001370 |
IPCGDNCJ_00278 |
296659 |
19 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
462T>A |
Asp154Glu |
M0001371 |
IPCGDNCJ_00278 |
296709 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
412A>G |
Asn138Asp |
M0001372 |
IPCGDNCJ_00278 |
296779 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
342T>C |
Arg114Arg |
M0001373 |
IPCGDNCJ_00278 |
296782 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
339G>A |
Arg113Arg |
M0001374 |
IPCGDNCJ_00278 |
296795 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
326C>T |
Thr109Ile |
M0001375 |
IPCGDNCJ_00278 |
296806 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
315C>T |
Ser105Ser |
M0001376 |
IPCGDNCJ_00278 |
297182 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-62A>G |
None |
M0001377 |
IPCGDNCJ_00278 |
297209 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-89G>T |
None |
M0001378 |
IPCGDNCJ_00278 |
297211 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-91G>A |
None |
M0001379 |
IPCGDNCJ_00279 |
297334 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
760A>G |
Ile254Val |
M0001380 |
IPCGDNCJ_00279 |
297449 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
645G>A |
Lys215Lys |
M0001381 |
IPCGDNCJ_00279 |
297601 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
493G>A |
Glu165Lys |
M0001382 |
IPCGDNCJ_00279 |
297670 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
424G>T |
Val142Phe |
M0001383 |
IPCGDNCJ_00279 |
297682 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
412C>T |
His138Tyr |
M0001384 |
IPCGDNCJ_00279 |
297722 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
372G>C |
Thr124Thr |
M0001385 |
IPCGDNCJ_00279 |
297770 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
324A>C |
Val108Val |
M0001386 |
IPCGDNCJ_00279 |
297802 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
292G>T |
Val98Phe |
M0001387 |
IPCGDNCJ_00279 |
297962 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
132G>A |
Gln44Gln |
M0001388 |
IPCGDNCJ_00278 |
298101 |
11 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-981G>A |
None |
M0001389 |
IPCGDNCJ_00280 |
298241 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
825A>G |
Gly275Gly |
M0001390 |
IPCGDNCJ_00280 |
298264 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
802A>C |
Ile268Leu |
M0001391 |
IPCGDNCJ_00280 |
298403 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
663C>T |
Thr221Thr |
M0001392 |
IPCGDNCJ_00280 |
298445 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
621A>G |
Leu207Leu |
M0001393 |
IPCGDNCJ_00111 |
109993 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
256A>G |
Ile86Val |
M0001394 |
IPCGDNCJ_00161 |
163412 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
168A>T |
Ala56Ala |
M0001395 |
IPCGDNCJ_00161 |
163448 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
132C>T |
Asp44Asp |
M0001396 |
IPCGDNCJ_00163 |
164478 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
333C>T |
Ile111Ile |
M0001397 |
IPCGDNCJ_00164 |
165163 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1089G>A |
Leu363Leu |
M0001398 |
IPCGDNCJ_00164 |
165202 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1050T>C |
Cys350Cys |
M0001399 |
IPCGDNCJ_00164 |
165268 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
984C>T |
His328His |
M0001400 |
IPCGDNCJ_00164 |
165486 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
766G>A |
Val256Ile |
M0001401 |
IPCGDNCJ_00164 |
165487 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
765G>A |
Met255Ile |
M0001402 |
IPCGDNCJ_00164 |
165565 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
687G>A |
Gly229Gly |
M0001403 |
IPCGDNCJ_00164 |
165580 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
672T>A |
His224Gln |
M0001404 |
IPCGDNCJ_00164 |
165819 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
433G>A |
Val145Met |
M0001405 |
IPCGDNCJ_00164 |
165895 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
357G>T |
Glu119Asp |
M0001406 |
IPCGDNCJ_00164 |
166138 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
114G>A |
Pro38Pro |
M0001407 |
IPCGDNCJ_00166 |
169591 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
571G>T |
Asp191Tyr |
M0001408 |
IPCGDNCJ_00166 |
169764 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
398C>T |
Ala133Val |
M0001409 |
IPCGDNCJ_00177 |
183204 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
670G>T |
Ala224Ser |
M0001410 |
IPCGDNCJ_00192 |
197936 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1033C>T |
Leu345Leu |
M0001411 |
IPCGDNCJ_00193 |
205277 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4750T>C |
None |
M0001412 |
IPCGDNCJ_00198 |
206875 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
927A>G |
Arg309Arg |
M0001413 |
IPCGDNCJ_00198 |
208052 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-251C>T |
None |
M0001414 |
IPCGDNCJ_00201 |
209361 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1032A>T |
Glu344Asp |
M0001415 |
IPCGDNCJ_00201 |
210333 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
60A>G |
Glu20Glu |
M0001416 |
IPCGDNCJ_00198 |
210446 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2645T>C |
None |
M0001417 |
IPCGDNCJ_00206 |
215216 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
265G>A |
Val89Ile |
M0001418 |
IPCGDNCJ_00208 |
217531 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
504T>A |
Phe168Leu |
M0001419 |
IPCGDNCJ_00220 |
228649 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
66C>A |
Asn22Lys |
M0001420 |
IPCGDNCJ_00102 |
103888 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
268C>T |
Pro90Ser |
M0001421 |
IPCGDNCJ_00127 |
122549 |
21 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1081T>C |
Cys361Arg |
M0001422 |
IPCGDNCJ_00128 |
124255 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2449C>T |
Arg817Cys |
M0001423 |
IPCGDNCJ_00136 |
134975 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1764T>A |
Ala588Ala |
M0001424 |
IPCGDNCJ_00077 |
82669 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1248T>C |
His416His |
M0001425 |
IPCGDNCJ_00077 |
82725 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1192T>G |
Leu398Val |
M0001426 |
IPCGDNCJ_00077 |
82747 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1170T>A |
Arg390Arg |
M0001427 |
IPCGDNCJ_00077 |
82932 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
985C>G |
Leu329Val |
M0001428 |
IPCGDNCJ_00140 |
142029 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
145G>A |
Val49Ile |
M0001429 |
IPCGDNCJ_00148 |
156058 |
11 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4618G>A |
None |
M0001430 |
IPCGDNCJ_00037 |
33616 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
397G>T |
Ala133Ser |
M0001431 |
IPCGDNCJ_00037 |
33660 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
441A>T |
Ser147Ser |
M0001432 |
IPCGDNCJ_00037 |
33678 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
459C>T |
His153His |
M0001433 |
IPCGDNCJ_00037 |
33712 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
493A>G |
Asn165Asp |
M0001434 |
IPCGDNCJ_00037 |
33722 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
503G>T |
Gly168Val |
M0001435 |
IPCGDNCJ_00034 |
33865 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2641A>C |
None |
M0001436 |
IPCGDNCJ_00034 |
33999 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2775T>A |
None |
M0001437 |
IPCGDNCJ_00034 |
34008 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2784A>G |
None |
M0001438 |
IPCGDNCJ_00034 |
34018 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2794A>T |
None |
M0001439 |
IPCGDNCJ_00038 |
34426 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
400A>G |
Lys134Glu |
M0001440 |
IPCGDNCJ_00038 |
34453 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
427G>A |
Val143Met |
M0001441 |
IPCGDNCJ_00038 |
34627 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
601A>C |
Asn201His |
M0001442 |
IPCGDNCJ_00038 |
34665 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
639G>A |
Ser213Ser |
M0001443 |
IPCGDNCJ_00038 |
34857 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
831T>C |
Ala277Ala |
M0001444 |
IPCGDNCJ_00038 |
35109 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1083T>C |
Ile361Ile |
M0001445 |
IPCGDNCJ_00038 |
35121 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1095T>C |
Phe365Phe |
M0001446 |
IPCGDNCJ_00038 |
35241 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1215A>G |
Ile405Met |
M0001447 |
IPCGDNCJ_00038 |
35313 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1287C>T |
Arg429Arg |
M0001448 |
IPCGDNCJ_00039 |
36296 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
552T>C |
Asp184Asp |
M0001449 |
IPCGDNCJ_00039 |
36360 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
616A>G |
Asn206Asp |
M0001450 |
IPCGDNCJ_00279 |
302384 |
11 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4291C>T |
None |
M0001451 |
IPCGDNCJ_00279 |
302449 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4356T>C |
None |
M0001452 |
IPCGDNCJ_00279 |
302460 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4367G>A |
None |
M0001453 |
IPCGDNCJ_00279 |
302471 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4378C>A |
None |
M0001454 |
IPCGDNCJ_00279 |
302475 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4382G>A |
None |
M0001455 |
IPCGDNCJ_00279 |
302554 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4461C>T |
None |
M0001456 |
IPCGDNCJ_00279 |
302586 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4493T>G |
None |
M0001457 |
IPCGDNCJ_00279 |
302587 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4494T>C |
None |
M0001458 |
IPCGDNCJ_00279 |
302611 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4518A>G |
None |
M0001459 |
IPCGDNCJ_00285 |
302774 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
510A>G |
Leu170Leu |
M0001460 |
IPCGDNCJ_00285 |
302777 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
507A>G |
Ser169Ser |
M0001461 |
IPCGDNCJ_00285 |
302865 |
15 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
419A>T |
Asp140Val |
M0001462 |
IPCGDNCJ_00285 |
302935 |
16 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
349C>A |
Pro117Thr |
M0001463 |
IPCGDNCJ_00285 |
302969 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
315C>T |
Arg105Arg |
M0001464 |
IPCGDNCJ_00285 |
303004 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
280T>C |
Leu94Leu |
M0001465 |
IPCGDNCJ_00285 |
303191 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
93A>C |
Gly31Gly |
M0001466 |
IPCGDNCJ_00285 |
303239 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
45T>C |
Asn15Asn |
M0001467 |
IPCGDNCJ_00286 |
303302 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1044T>C |
Ile348Ile |
M0001468 |
IPCGDNCJ_00286 |
303350 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
996T>C |
Ser332Ser |
M0001469 |
IPCGDNCJ_00286 |
303382 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
964A>G |
Ile322Val |
M0001470 |
IPCGDNCJ_00286 |
303383 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
963A>G |
Gly321Gly |
M0001471 |
IPCGDNCJ_00286 |
303413 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
933G>A |
Glu311Glu |
M0001472 |
IPCGDNCJ_00286 |
303436 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
910T>C |
Leu304Leu |
M0001473 |
IPCGDNCJ_00286 |
303563 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
783T>C |
Phe261Phe |
M0001474 |
IPCGDNCJ_00286 |
303610 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
736G>A |
Val246Ile |
M0001475 |
IPCGDNCJ_00286 |
303906 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
440C>T |
Ser147Leu |
M0001476 |
IPCGDNCJ_00286 |
304060 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
286T>G |
Tyr96Asp |
M0001477 |
IPCGDNCJ_00286 |
304096 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
250A>T |
Thr84Ser |
M0001478 |
IPCGDNCJ_00286 |
304117 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
229A>G |
Asn77Asp |
M0001479 |
IPCGDNCJ_00286 |
304126 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
220C>A |
Gln74Lys |
M0001480 |
IPCGDNCJ_00286 |
304135 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
211A>G |
Lys71Glu |
M0001481 |
IPCGDNCJ_00286 |
304164 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
182A>C |
Glu61Ala |
M0001482 |
IPCGDNCJ_00286 |
304181 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
165A>C |
Ile55Ile |
M0001483 |
IPCGDNCJ_00281 |
304361 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4956G>A |
None |
M0001484 |
IPCGDNCJ_00281 |
304365 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4960G>A |
None |
M0001485 |
IPCGDNCJ_00281 |
304375 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4970A>G |
None |
M0001486 |
IPCGDNCJ_00281 |
304397 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4992A>T |
None |
M0001487 |
IPCGDNCJ_00281 |
304401 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4996C>T |
None |
M0001488 |
IPCGDNCJ_00283 |
304445 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2899A>G |
None |
M0001489 |
IPCGDNCJ_00283 |
304493 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2947C>T |
None |
M0001490 |
IPCGDNCJ_00283 |
304495 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2949C>T |
None |
M0001491 |
IPCGDNCJ_00287 |
304835 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
182A>G |
Asp61Gly |
M0001492 |
IPCGDNCJ_00287 |
304908 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
255A>T |
Arg85Arg |
M0001493 |
IPCGDNCJ_00287 |
304926 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
273G>A |
Leu91Leu |
M0001494 |
IPCGDNCJ_00287 |
304977 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
324G>A |
Ala108Ala |
M0001495 |
IPCGDNCJ_00287 |
305022 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
369A>T |
Pro123Pro |
M0001496 |
IPCGDNCJ_00287 |
305070 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
417G>C |
Pro139Pro |
M0001497 |
IPCGDNCJ_00287 |
305193 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
540C>T |
Ser180Ser |
M0001498 |
IPCGDNCJ_00287 |
305235 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
582G>A |
Thr194Thr |
M0001499 |
IPCGDNCJ_00287 |
305244 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
591T>C |
Asp197Asp |
M0001500 |
IPCGDNCJ_00287 |
305271 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
618A>G |
Thr206Thr |
M0001501 |
IPCGDNCJ_00287 |
305274 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
621C>T |
Ile207Ile |
M0001502 |
IPCGDNCJ_00287 |
305329 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
676A>G |
Ile226Val |
M0001503 |
IPCGDNCJ_00287 |
305364 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
711C>T |
His237His |
M0001504 |
IPCGDNCJ_00287 |
305388 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
735A>G |
Glu245Glu |
M0001505 |
IPCGDNCJ_00287 |
305413 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
760T>C |
Leu254Leu |
M0001506 |
IPCGDNCJ_00287 |
305442 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
789T>A |
Ser263Ser |
M0001507 |
IPCGDNCJ_00287 |
305445 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
792A>G |
Leu264Leu |
M0001508 |
IPCGDNCJ_00287 |
305478 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
825G>A |
Gln275Gln |
M0001509 |
IPCGDNCJ_00287 |
305487 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
834A>T |
Ala278Ala |
M0001510 |
IPCGDNCJ_00287 |
305508 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
855A>C |
Ile285Ile |
M0001511 |
IPCGDNCJ_00287 |
305568 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
915T>G |
Thr305Thr |
M0001512 |
IPCGDNCJ_00069 |
76317 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3187T>G |
None |
M0001513 |
IPCGDNCJ_00074 |
78754 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
178T>G |
Leu60Val |
M0001514 |
IPCGDNCJ_00075 |
79396 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1156A>G |
Ile386Val |
M0001515 |
IPCGDNCJ_00077 |
82921 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
996T>C |
Asp332Asp |
M0001516 |
IPCGDNCJ_00086 |
91221 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
592A>G |
Ile198Val |
M0001517 |
IPCGDNCJ_00088 |
92423 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
655A>C |
Asn219His |
M0001518 |
IPCGDNCJ_00061 |
62775 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
510A>C |
Ile170Ile |
M0001519 |
IPCGDNCJ_00062 |
63793 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1252G>T |
Ala418Ser |
M0001520 |
IPCGDNCJ_00062 |
64041 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1004C>T |
Ala335Val |
M0001521 |
IPCGDNCJ_00231 |
244762 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
3222A>C |
Glu1074Asp |
M0001522 |
IPCGDNCJ_00231 |
245104 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2880T>C |
Ser960Ser |
M0001523 |
IPCGDNCJ_00231 |
245110 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2874A>C |
Ile958Ile |
M0001524 |
IPCGDNCJ_00231 |
245119 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2865A>G |
Val955Val |
M0001525 |
IPCGDNCJ_00231 |
245962 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2022T>G |
Thr674Thr |
M0001526 |
IPCGDNCJ_00231 |
246184 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1800C>T |
Val600Val |
M0001527 |
IPCGDNCJ_00231 |
246195 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1789A>G |
Asn597Asp |
M0001528 |
IPCGDNCJ_00231 |
246529 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1455C>T |
Gly485Gly |
M0001529 |
IPCGDNCJ_00231 |
246583 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1401G>A |
Gln467Gln |
M0001530 |
IPCGDNCJ_00231 |
246619 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1365C>T |
Arg455Arg |
M0001531 |
IPCGDNCJ_00231 |
246628 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1356C>T |
His452His |
M0001532 |
IPCGDNCJ_00231 |
246633 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1351C>T |
His451Tyr |
M0001533 |
IPCGDNCJ_00231 |
246637 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1347A>G |
Leu449Leu |
M0001534 |
IPCGDNCJ_00231 |
246988 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
996A>T |
Val332Val |
M0001535 |
IPCGDNCJ_00231 |
247021 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
963A>G |
Glu321Glu |
M0001536 |
IPCGDNCJ_00231 |
247267 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
717T>C |
Ser239Ser |
M0001537 |
IPCGDNCJ_00231 |
247285 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
699C>T |
Asn233Asn |
M0001538 |
IPCGDNCJ_00231 |
247747 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
237C>T |
Ile79Ile |
M0001539 |
IPCGDNCJ_00231 |
247825 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
159G>A |
Pro53Pro |
M0001540 |
IPCGDNCJ_00232 |
248276 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1146G>A |
Leu382Leu |
M0001541 |
IPCGDNCJ_00232 |
248294 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1128T>C |
Gly376Gly |
M0001542 |
IPCGDNCJ_00232 |
248375 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1047T>G |
His349Gln |
M0001543 |
IPCGDNCJ_00232 |
248824 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
598G>A |
Asp200Asn |
M0001544 |
IPCGDNCJ_00232 |
248843 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
579G>T |
Lys193Asn |
M0001545 |
IPCGDNCJ_00232 |
248897 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
525A>T |
Leu175Leu |
M0001546 |
IPCGDNCJ_00232 |
249125 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
297G>C |
Met99Ile |
M0001547 |
IPCGDNCJ_00231 |
249457 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1474A>T |
None |
M0001548 |
IPCGDNCJ_00231 |
249461 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1478T>A |
None |
M0001549 |
IPCGDNCJ_00233 |
249571 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
723A>G |
Thr241Thr |
M0001550 |
IPCGDNCJ_00233 |
249604 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
690T>C |
Ala230Ala |
M0001551 |
IPCGDNCJ_00233 |
249721 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
573G>T |
Val191Val |
M0001552 |
IPCGDNCJ_00233 |
249766 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
528T>C |
Ile176Ile |
M0001553 |
IPCGDNCJ_00233 |
249786 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
508C>G |
Gln170Glu |
M0001554 |
IPCGDNCJ_00233 |
249920 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
374T>C |
Leu125Pro |
M0001555 |
IPCGDNCJ_00233 |
249948 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
346A>G |
Thr116Ala |
M0001556 |
IPCGDNCJ_00231 |
250320 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2337C>T |
None |
M0001557 |
IPCGDNCJ_00231 |
250474 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2491G>A |
None |
M0001558 |
IPCGDNCJ_00231 |
250923 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2940T>G |
None |
M0001559 |
IPCGDNCJ_00231 |
250924 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2941C>T |
None |
M0001560 |
IPCGDNCJ_00231 |
250945 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2962A>C |
None |
M0001561 |
IPCGDNCJ_00235 |
251696 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
714T>A |
Ala238Ala |
M0001562 |
IPCGDNCJ_00235 |
251716 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
694T>C |
Leu232Leu |
M0001563 |
IPCGDNCJ_00235 |
251727 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
683A>C |
Asn228Thr |
M0001564 |
IPCGDNCJ_00235 |
252158 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
252T>C |
Leu84Leu |
M0001565 |
IPCGDNCJ_00235 |
252236 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
174T>C |
Ile58Ile |
M0001566 |
IPCGDNCJ_00235 |
252257 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
153T>C |
Gly51Gly |
M0001567 |
IPCGDNCJ_00235 |
252281 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
129T>A |
Thr43Thr |
M0001568 |
IPCGDNCJ_00235 |
252326 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
84C>T |
Asn28Asn |
M0001569 |
IPCGDNCJ_00235 |
252353 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
57A>G |
Val19Val |
M0001570 |
IPCGDNCJ_00231 |
252505 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4522A>T |
None |
M0001571 |
IPCGDNCJ_00231 |
252532 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4549A>T |
None |
M0001572 |
IPCGDNCJ_00231 |
252558 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4575C>T |
None |
M0001573 |
IPCGDNCJ_00231 |
252684 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4701C>G |
None |
M0001574 |
IPCGDNCJ_00231 |
252718 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4735C>T |
None |
M0001575 |
IPCGDNCJ_00231 |
252745 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4762G>A |
None |
M0001576 |
IPCGDNCJ_00231 |
252753 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4770G>T |
None |
M0001577 |
IPCGDNCJ_00231 |
252765 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4782T>A |
None |
M0001578 |
IPCGDNCJ_00231 |
252789 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4806T>C |
None |
M0001579 |
IPCGDNCJ_00231 |
252791 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4808A>T |
None |
M0001580 |
IPCGDNCJ_00236 |
252957 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
504T>C |
Gly168Gly |
M0001581 |
IPCGDNCJ_00236 |
253035 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
426G>A |
Pro142Pro |
M0001582 |
IPCGDNCJ_00236 |
253050 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
411T>C |
Tyr137Tyr |
M0001583 |
IPCGDNCJ_00236 |
253065 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
396T>C |
Asn132Asn |
M0001584 |
IPCGDNCJ_00236 |
253071 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
390T>C |
Ile130Ile |
M0001585 |
IPCGDNCJ_00236 |
253089 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
372A>G |
Val124Val |
M0001586 |
IPCGDNCJ_00236 |
253092 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
369T>C |
His123His |
M0001587 |
IPCGDNCJ_00236 |
253119 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
342C>G |
Ala114Ala |
M0001588 |
IPCGDNCJ_00236 |
253170 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
291T>C |
Gly97Gly |
M0001589 |
IPCGDNCJ_00236 |
253190 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
271A>C |
Lys91Gln |
M0001590 |
IPCGDNCJ_00236 |
253322 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
139G>A |
Glu47Lys |
M0001591 |
IPCGDNCJ_00232 |
253535 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4114A>C |
None |
M0001592 |
IPCGDNCJ_00203 |
211585 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
57T>C |
Asp19Asp |
M0001593 |
IPCGDNCJ_00203 |
211596 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
68T>C |
Leu23Pro |
M0001594 |
IPCGDNCJ_00203 |
211630 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
102A>C |
Pro34Pro |
M0001595 |
IPCGDNCJ_00203 |
211642 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
114G>A |
Gly38Gly |
M0001596 |
IPCGDNCJ_00203 |
211651 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
123C>T |
Ile41Ile |
M0001597 |
IPCGDNCJ_00198 |
212029 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4228C>A |
None |
M0001598 |
IPCGDNCJ_00198 |
212057 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4256T>A |
None |
M0001599 |
IPCGDNCJ_00198 |
212357 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4556T>C |
None |
M0001600 |
IPCGDNCJ_00204 |
212574 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
195T>C |
Asn65Asn |
M0001601 |
IPCGDNCJ_00204 |
212755 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
376A>G |
Lys126Glu |
M0001602 |
IPCGDNCJ_00204 |
212979 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
600T>C |
Ala200Ala |
M0001603 |
IPCGDNCJ_00204 |
213111 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
732C>T |
Gly244Gly |
M0001604 |
IPCGDNCJ_00204 |
213159 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
780G>A |
Lys260Lys |
M0001605 |
IPCGDNCJ_00204 |
213165 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
786C>T |
Leu262Leu |
M0001606 |
IPCGDNCJ_00204 |
213171 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
792T>A |
Gly264Gly |
M0001607 |
IPCGDNCJ_00204 |
213333 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
954A>G |
Pro318Pro |
M0001608 |
IPCGDNCJ_00204 |
213588 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1209A>G |
Thr403Thr |
M0001609 |
IPCGDNCJ_00204 |
213799 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1420G>A |
Asp474Asn |
M0001610 |
IPCGDNCJ_00204 |
213857 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1478T>A |
Ile493Asn |
M0001611 |
IPCGDNCJ_00204 |
213865 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1486A>G |
Lys496Glu |
M0001612 |
IPCGDNCJ_00201 |
213930 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3538A>G |
None |
M0001613 |
IPCGDNCJ_00201 |
214098 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3706T>A |
None |
M0001614 |
IPCGDNCJ_00201 |
214167 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3775G>T |
None |
M0001615 |
IPCGDNCJ_00201 |
214174 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3782A>G |
None |
M0001616 |
IPCGDNCJ_00205 |
214367 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
336T>C |
Ala112Ala |
M0001617 |
IPCGDNCJ_00205 |
214676 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
27G>T |
Lys9Asn |
M0001618 |
IPCGDNCJ_00201 |
214740 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4348A>T |
None |
M0001619 |
IPCGDNCJ_00201 |
214809 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4417A>C |
None |
M0001620 |
IPCGDNCJ_00056 |
58202 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1026T>C |
Ser342Ser |
M0001621 |
IPCGDNCJ_00034 |
33811 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2587A>T |
None |
M0001622 |
IPCGDNCJ_00159 |
162086 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
90G>A |
Val30Val |
M0001623 |
IPCGDNCJ_00159 |
162101 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
105T>C |
Asn35Asn |
M0001624 |
IPCGDNCJ_00160 |
162734 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
211G>A |
Val71Met |
M0001625 |
IPCGDNCJ_00160 |
162852 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
93G>A |
Arg31Arg |
M0001626 |
IPCGDNCJ_00155 |
163049 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4544A>G |
None |
M0001627 |
IPCGDNCJ_00156 |
163678 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4330G>A |
None |
M0001628 |
IPCGDNCJ_00156 |
163688 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4340G>A |
None |
M0001629 |
IPCGDNCJ_00156 |
163744 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4396G>A |
None |
M0001630 |
IPCGDNCJ_00156 |
163810 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4462T>C |
None |
M0001631 |
IPCGDNCJ_00156 |
163960 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4612C>T |
None |
M0001632 |
IPCGDNCJ_00156 |
163981 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4633A>T |
None |
M0001633 |
IPCGDNCJ_00162 |
164014 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
19A>G |
Thr7Ala |
M0001634 |
IPCGDNCJ_00162 |
164026 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
31A>G |
Ser11Gly |
M0001635 |
IPCGDNCJ_00162 |
164030 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
35T>G |
Ile12Ser |
M0001636 |
IPCGDNCJ_00162 |
164082 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
87C>T |
Ala29Ala |
M0001637 |
IPCGDNCJ_00163 |
164597 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
214T>C |
Phe72Leu |
M0001638 |
IPCGDNCJ_00163 |
164676 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
135A>C |
Pro45Pro |
M0001639 |
IPCGDNCJ_00164 |
164961 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1291G>A |
Val431Ile |
M0001640 |
IPCGDNCJ_00037 |
33564 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
345T>A |
Thr115Thr |
M0001641 |
IPCGDNCJ_00037 |
33590 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
371C>T |
Ala124Val |
M0001642 |
IPCGDNCJ_00037 |
33592 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
373T>G |
Ser125Ala |
M0001643 |
IPCGDNCJ_00037 |
33594 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
375A>C |
Ser125Ser |
M0001644 |
IPCGDNCJ_00037 |
33598 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
379G>A |
Glu127Lys |
M0001645 |
IPCGDNCJ_00037 |
33609 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
390T>C |
Ala130Ala |
M0001646 |
IPCGDNCJ_00037 |
33744 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
525C>T |
Gly175Gly |
M0001647 |
IPCGDNCJ_00037 |
33747 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
528T>G |
Thr176Thr |
M0001648 |
IPCGDNCJ_00037 |
33762 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
543T>C |
Gly181Gly |
M0001649 |
IPCGDNCJ_00038 |
34374 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
Pro116Pro |
M0001650 |
IPCGDNCJ_00243 |
258393 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
204G>T |
Leu68Leu |
M0001651 |
IPCGDNCJ_00245 |
260428 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
283A>C |
Lys95Gln |
M0001652 |
IPCGDNCJ_00246 |
260815 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
144G>A |
Lys48Lys |
M0001653 |
IPCGDNCJ_00193 |
199650 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
878C>A |
Thr293Asn |
M0001654 |
IPCGDNCJ_00193 |
199651 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
877A>G |
Thr293Ala |
M0001655 |
IPCGDNCJ_00193 |
199989 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
539T>C |
Leu180Ser |
M0001656 |
IPCGDNCJ_00193 |
200002 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
526G>A |
Asp176Asn |
M0001657 |
IPCGDNCJ_00193 |
200015 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
513T>G |
Asn171Lys |
M0001658 |
IPCGDNCJ_00193 |
200042 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
486G>A |
Gln162Gln |
M0001659 |
IPCGDNCJ_00193 |
200456 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
72T>A |
Ala24Ala |
M0001660 |
IPCGDNCJ_00193 |
200682 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-155T>G |
None |
M0001661 |
IPCGDNCJ_00193 |
200930 |
11 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-403T>A |
None |
M0001662 |
IPCGDNCJ_00194 |
201192 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
257C>A |
Ala86Asp |
M0001663 |
IPCGDNCJ_00195 |
202706 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
936G>A |
Gln312Gln |
M0001664 |
IPCGDNCJ_00195 |
202710 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
940T>C |
Leu314Leu |
M0001665 |
IPCGDNCJ_00195 |
202775 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1005T>C |
Ser335Ser |
M0001666 |
IPCGDNCJ_00195 |
202808 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1038T>C |
His346His |
M0001667 |
IPCGDNCJ_00195 |
203054 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1284T>C |
Leu428Leu |
M0001668 |
IPCGDNCJ_00195 |
203056 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1286A>C |
Lys429Thr |
M0001669 |
IPCGDNCJ_00235 |
252317 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
93G>A |
Leu31Leu |
M0001670 |
IPCGDNCJ_00235 |
252324 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
86C>G |
Thr29Ser |
M0001671 |
IPCGDNCJ_00154 |
162376 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4902A>G |
None |
M0001672 |
IPCGDNCJ_00157 |
164449 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3763T>G |
None |
M0001673 |
IPCGDNCJ_00164 |
165337 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
915A>T |
Arg305Arg |
M0001674 |
IPCGDNCJ_00164 |
165433 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
819T>C |
Tyr273Tyr |
M0001675 |
IPCGDNCJ_00164 |
165616 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
636G>A |
Ala212Ala |
M0001676 |
IPCGDNCJ_00164 |
165624 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
628C>T |
Pro210Ser |
M0001677 |
IPCGDNCJ_00165 |
166352 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1401G>T |
Lys467Asn |
M0001678 |
IPCGDNCJ_00165 |
166418 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1335A>G |
Leu445Leu |
M0001679 |
IPCGDNCJ_00165 |
166446 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1307A>G |
His436Arg |
M0001680 |
IPCGDNCJ_00165 |
166466 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1287A>G |
Pro429Pro |
M0001681 |
IPCGDNCJ_00165 |
166505 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1248T>G |
Gly416Gly |
M0001682 |
IPCGDNCJ_00165 |
166547 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1206T>C |
Ser402Ser |
M0001683 |
IPCGDNCJ_00165 |
166553 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1200A>T |
Ser400Ser |
M0001684 |
IPCGDNCJ_00165 |
166559 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1194C>T |
Ala398Ala |
M0001685 |
IPCGDNCJ_00165 |
166607 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1146A>G |
Gly382Gly |
M0001686 |
IPCGDNCJ_00165 |
166631 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1122T>C |
Ala374Ala |
M0001687 |
IPCGDNCJ_00165 |
166652 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1101T>G |
Asn367Lys |
M0001688 |
IPCGDNCJ_00165 |
166706 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1047C>T |
Pro349Pro |
M0001689 |
IPCGDNCJ_00165 |
166739 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1014C>T |
Ala338Ala |
M0001690 |
IPCGDNCJ_00165 |
166904 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
849G>A |
Lys283Lys |
M0001691 |
IPCGDNCJ_00165 |
166910 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
843G>A |
Gln281Gln |
M0001692 |
IPCGDNCJ_00165 |
167054 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
699A>C |
Glu233Asp |
M0001693 |
IPCGDNCJ_00165 |
167061 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
692G>A |
Arg231Lys |
M0001694 |
IPCGDNCJ_00165 |
167081 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
672C>T |
Gly224Gly |
M0001695 |
IPCGDNCJ_00165 |
167114 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
639C>T |
Asp213Asp |
M0001696 |
IPCGDNCJ_00165 |
167120 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
633T>C |
Ser211Ser |
M0001697 |
IPCGDNCJ_00165 |
167207 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
546G>T |
Glu182Asp |
M0001698 |
IPCGDNCJ_00165 |
167232 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
521C>T |
Ala174Val |
M0001699 |
IPCGDNCJ_00165 |
167492 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
261G>A |
Glu87Glu |
M0001700 |
IPCGDNCJ_00165 |
167495 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
258A>T |
Ser86Ser |
M0001701 |
IPCGDNCJ_00165 |
167512 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
241T>G |
Phe81Val |
M0001702 |
IPCGDNCJ_00165 |
167540 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
213C>T |
Asp71Asp |
M0001703 |
IPCGDNCJ_00165 |
167675 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
78G>A |
Gln26Gln |
M0001704 |
IPCGDNCJ_00166 |
167947 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2215A>G |
Thr739Ala |
M0001705 |
IPCGDNCJ_00166 |
168136 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2026A>T |
Thr676Ser |
M0001706 |
IPCGDNCJ_00166 |
168599 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1563T>A |
Arg521Arg |
M0001707 |
IPCGDNCJ_00166 |
168681 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1481A>G |
Asp494Gly |
M0001708 |
IPCGDNCJ_00166 |
168992 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1170A>C |
Ser390Ser |
M0001709 |
IPCGDNCJ_00167 |
170276 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
451T>C |
Ser151Pro |
M0001710 |
IPCGDNCJ_00167 |
170294 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
433A>G |
Asn145Asp |
M0001711 |
IPCGDNCJ_00167 |
170301 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
426G>A |
Glu142Glu |
M0001712 |
IPCGDNCJ_00167 |
170340 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
387G>A |
Gly129Gly |
M0001713 |
IPCGDNCJ_00167 |
170640 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
87A>T |
Lys29Asn |
M0001714 |
IPCGDNCJ_00168 |
170731 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1542G>A |
Glu514Glu |
M0001715 |
IPCGDNCJ_00168 |
171178 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1095A>T |
Ser365Ser |
M0001716 |
IPCGDNCJ_00168 |
171227 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1046T>A |
Leu349Gln |
M0001717 |
IPCGDNCJ_00168 |
171841 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
432T>A |
Gly144Gly |
M0001718 |
IPCGDNCJ_00168 |
172085 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
188T>C |
Leu63Pro |
M0001719 |
IPCGDNCJ_00169 |
172453 |
15 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1372T>C |
Tyr458His |
M0001720 |
IPCGDNCJ_00169 |
172493 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1332C>T |
Gly444Gly |
M0001721 |
IPCGDNCJ_00169 |
172511 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1314C>T |
Ile438Ile |
M0001722 |
IPCGDNCJ_00169 |
172529 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1296A>C |
Pro432Pro |
M0001723 |
IPCGDNCJ_00169 |
172611 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1214G>A |
Gly405Glu |
M0001724 |
IPCGDNCJ_00169 |
172621 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1204T>A |
Ser402Thr |
M0001725 |
IPCGDNCJ_00169 |
172661 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1164A>T |
Glu388Asp |
M0001726 |
IPCGDNCJ_00169 |
172913 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
912T>G |
Thr304Thr |
M0001727 |
IPCGDNCJ_00169 |
172937 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
888A>G |
Thr296Thr |
M0001728 |
IPCGDNCJ_00169 |
172994 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
831A>G |
Leu277Leu |
M0001729 |
IPCGDNCJ_00169 |
173018 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
807G>A |
Ser269Ser |
M0001730 |
IPCGDNCJ_00169 |
173033 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
792C>T |
Pro264Pro |
M0001731 |
IPCGDNCJ_00169 |
173039 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
786A>G |
Val262Val |
M0001732 |
IPCGDNCJ_00169 |
173057 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
768T>A |
Thr256Thr |
M0001733 |
IPCGDNCJ_00169 |
173156 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
669G>T |
Met223Ile |
M0001734 |
IPCGDNCJ_00169 |
173180 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
645C>T |
Phe215Phe |
M0001735 |
IPCGDNCJ_00169 |
173497 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
328A>C |
Lys110Gln |
M0001736 |
IPCGDNCJ_00169 |
173600 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
225T>A |
Ser75Ser |
M0001737 |
IPCGDNCJ_00169 |
173612 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
213C>T |
Thr71Thr |
M0001738 |
IPCGDNCJ_00170 |
173871 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
768A>T |
Leu256Phe |
M0001739 |
IPCGDNCJ_00170 |
174036 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
603T>A |
Val201Val |
M0001740 |
IPCGDNCJ_00170 |
174297 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
342T>C |
Phe114Phe |
M0001741 |
IPCGDNCJ_00170 |
174474 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
165A>C |
Val55Val |
M0001742 |
IPCGDNCJ_00170 |
174570 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
69C>T |
Gly23Gly |
M0001743 |
IPCGDNCJ_00171 |
174764 |
11 |
Skin |
0.02 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
271T>C |
Ter91Glnext*? |
M0001744 |
IPCGDNCJ_00171 |
174765 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
270A>G |
Thr90Thr |
M0001745 |
IPCGDNCJ_00166 |
175118 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4957C>T |
None |
M0001746 |
IPCGDNCJ_00172 |
175214 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
3942T>C |
Asp1314Asp |
M0001747 |
IPCGDNCJ_00172 |
175217 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
3939G>A |
Lys1313Lys |
M0001748 |
IPCGDNCJ_00172 |
175257 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
3899T>C |
Ile1300Thr |
M0001749 |
IPCGDNCJ_00172 |
175571 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
3585C>A |
Asp1195Glu |
M0001750 |
IPCGDNCJ_00156 |
159001 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
348C>A |
Gly116Gly |
M0001751 |
IPCGDNCJ_00164 |
165181 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1071C>T |
Asn357Asn |
M0001752 |
IPCGDNCJ_00254 |
270150 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
424T>C |
Phe142Leu |
M0001753 |
IPCGDNCJ_00252 |
272533 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3581C>G |
None |
M0001754 |
IPCGDNCJ_00258 |
273321 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
702G>A |
Gly234Gly |
M0001755 |
IPCGDNCJ_00261 |
276076 |
5 |
Skin |
0.01 |
protein_coding |
stop_gained |
HIGH |
182T>A |
Leu61* |
M0001756 |
IPCGDNCJ_00154 |
160919 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3445A>C |
None |
M0001757 |
IPCGDNCJ_00066 |
73370 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4734G>A |
None |
M0001758 |
IPCGDNCJ_00088 |
92832 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
246T>A |
Thr82Thr |
M0001759 |
IPCGDNCJ_00094 |
97008 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
594A>T |
Lys198Asn |
M0001760 |
IPCGDNCJ_00088 |
97613 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4536A>G |
None |
M0001761 |
IPCGDNCJ_00098 |
99085 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Ser142Ser |
M0001762 |
IPCGDNCJ_00098 |
99104 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
407G>A |
Gly136Glu |
M0001763 |
IPCGDNCJ_00094 |
100147 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2546T>G |
None |
M0001764 |
IPCGDNCJ_00100 |
100748 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
503A>G |
Glu168Gly |
M0001765 |
IPCGDNCJ_00278 |
296559 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
562A>G |
Ile188Val |
M0001766 |
IPCGDNCJ_00278 |
296610 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
511A>G |
Ile171Val |
M0001767 |
IPCGDNCJ_00279 |
297524 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
570C>T |
Leu190Leu |
M0001768 |
IPCGDNCJ_00145 |
146556 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
856C>T |
His286Tyr |
M0001769 |
IPCGDNCJ_00184 |
194515 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2841T>C |
None |
M0001770 |
IPCGDNCJ_00189 |
194931 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
388A>G |
Ile130Val |
M0001771 |
IPCGDNCJ_00189 |
194960 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
417A>T |
Val139Val |
M0001772 |
IPCGDNCJ_00189 |
195401 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
858G>A |
Lys286Lys |
M0001773 |
IPCGDNCJ_00190 |
196008 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
263A>T |
Tyr88Phe |
M0001774 |
IPCGDNCJ_00192 |
197155 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
252T>C |
Ile84Ile |
M0001775 |
IPCGDNCJ_00192 |
197482 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
579C>T |
Phe193Phe |
M0001776 |
IPCGDNCJ_00187 |
198099 |
11 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4816C>T |
None |
M0001777 |
IPCGDNCJ_00193 |
198731 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1797T>C |
Asn599Asn |
M0001778 |
IPCGDNCJ_00193 |
198794 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1734A>G |
Leu578Leu |
M0001779 |
IPCGDNCJ_00193 |
198917 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1611C>T |
Val537Val |
M0001780 |
IPCGDNCJ_00193 |
198989 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1539T>C |
Val513Val |
M0001781 |
IPCGDNCJ_00193 |
199082 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1446T>C |
Ala482Ala |
M0001782 |
IPCGDNCJ_00193 |
199301 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1227C>T |
Asp409Asp |
M0001783 |
IPCGDNCJ_00193 |
199673 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
855G>T |
Ala285Ala |
M0001784 |
IPCGDNCJ_00193 |
200320 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
208A>G |
Thr70Ala |
M0001785 |
IPCGDNCJ_00193 |
200694 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-167G>A |
None |
M0001786 |
IPCGDNCJ_00194 |
200987 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
52G>A |
Asp18Asn |
M0001787 |
IPCGDNCJ_00194 |
200994 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
59A>T |
Asn20Ile |
M0001788 |
IPCGDNCJ_00194 |
201018 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
83T>A |
Phe28Tyr |
M0001789 |
IPCGDNCJ_00194 |
201028 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
93C>T |
Arg31Arg |
M0001790 |
IPCGDNCJ_00194 |
201477 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
542C>G |
Pro181Arg |
M0001791 |
IPCGDNCJ_00194 |
201653 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
718C>G |
His240Asp |
M0001792 |
IPCGDNCJ_00193 |
201727 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1200G>A |
None |
M0001793 |
IPCGDNCJ_00195 |
202100 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
330A>G |
Leu110Leu |
M0001794 |
IPCGDNCJ_00195 |
202949 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1179T>C |
His393His |
M0001795 |
IPCGDNCJ_00195 |
203464 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1694T>C |
Val565Ala |
M0001796 |
IPCGDNCJ_00195 |
203495 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1725A>G |
Glu575Glu |
M0001797 |
IPCGDNCJ_00195 |
203532 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1762G>C |
Glu588Gln |
M0001798 |
IPCGDNCJ_00195 |
203639 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1869T>G |
Ala623Ala |
M0001799 |
IPCGDNCJ_00195 |
203648 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1878T>C |
Asn626Asn |
M0001800 |
IPCGDNCJ_00195 |
203750 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1980T>C |
His660His |
M0001801 |
IPCGDNCJ_00195 |
203754 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1984C>T |
His662Tyr |
M0001802 |
IPCGDNCJ_00193 |
204083 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3556A>G |
None |
M0001803 |
IPCGDNCJ_00193 |
204199 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3672C>G |
None |
M0001804 |
IPCGDNCJ_00193 |
204215 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3688A>G |
None |
M0001805 |
IPCGDNCJ_00280 |
298885 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
181C>T |
His61Tyr |
M0001806 |
IPCGDNCJ_00280 |
298970 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
96C>T |
Asp32Asp |
M0001807 |
IPCGDNCJ_00280 |
299032 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
34A>G |
Ser12Gly |
M0001808 |
IPCGDNCJ_00278 |
299455 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2335G>A |
None |
M0001809 |
IPCGDNCJ_00199 |
206306 |
11 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1801T>C |
None |
M0001810 |
IPCGDNCJ_00199 |
206321 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1786T>C |
None |
M0001811 |
IPCGDNCJ_00199 |
206347 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1760A>G |
None |
M0001812 |
IPCGDNCJ_00199 |
206407 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1700A>G |
None |
M0001813 |
IPCGDNCJ_00198 |
206701 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1101T>C |
Gly367Gly |
M0001814 |
IPCGDNCJ_00198 |
206707 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1095T>A |
Leu365Leu |
M0001815 |
IPCGDNCJ_00198 |
207217 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
585C>A |
Asn195Lys |
M0001816 |
IPCGDNCJ_00198 |
207250 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
552A>G |
Leu184Leu |
M0001817 |
IPCGDNCJ_00198 |
207310 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
492C>T |
Ala164Ala |
M0001818 |
IPCGDNCJ_00198 |
207351 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
451A>G |
Ser151Gly |
M0001819 |
IPCGDNCJ_00198 |
207362 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
440C>A |
Ala147Glu |
M0001820 |
IPCGDNCJ_00201 |
209290 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1103G>A |
Arg368Lys |
M0001821 |
IPCGDNCJ_00201 |
209307 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1086C>A |
His362Gln |
M0001822 |
IPCGDNCJ_00201 |
209375 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1018T>C |
Leu340Leu |
M0001823 |
IPCGDNCJ_00201 |
209424 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
969A>G |
Thr323Thr |
M0001824 |
IPCGDNCJ_00201 |
209433 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
960C>T |
Asn320Asn |
M0001825 |
IPCGDNCJ_00201 |
209508 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
885G>A |
Gln295Gln |
M0001826 |
IPCGDNCJ_00201 |
209511 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
882C>A |
Ala294Ala |
M0001827 |
IPCGDNCJ_00201 |
209559 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
834T>G |
Val278Val |
M0001828 |
IPCGDNCJ_00201 |
209602 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
791T>A |
Phe264Tyr |
M0001829 |
IPCGDNCJ_00201 |
209637 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
756C>T |
His252His |
M0001830 |
IPCGDNCJ_00201 |
209646 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
747C>T |
Phe249Phe |
M0001831 |
IPCGDNCJ_00201 |
209684 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
709A>G |
Lys237Glu |
M0001832 |
IPCGDNCJ_00201 |
209725 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
668T>C |
Ile223Thr |
M0001833 |
IPCGDNCJ_00201 |
209881 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
512G>A |
Arg171Gln |
M0001834 |
IPCGDNCJ_00201 |
209973 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
420T>C |
Asp140Asp |
M0001835 |
IPCGDNCJ_00201 |
210018 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
375A>G |
Lys125Lys |
M0001836 |
IPCGDNCJ_00201 |
210068 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
325A>G |
Asn109Asp |
M0001837 |
IPCGDNCJ_00201 |
210141 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
252T>C |
Asn84Asn |
M0001838 |
IPCGDNCJ_00274 |
291032 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
357A>G |
Thr119Thr |
M0001839 |
IPCGDNCJ_00274 |
291047 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
342C>T |
His114His |
M0001840 |
IPCGDNCJ_00274 |
291079 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
310T>G |
Ser104Ala |
M0001841 |
IPCGDNCJ_00274 |
291128 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
261T>C |
Asn87Asn |
M0001842 |
IPCGDNCJ_00274 |
291172 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
217C>T |
Leu73Leu |
M0001843 |
IPCGDNCJ_00274 |
291176 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Gly71Gly |
M0001844 |
IPCGDNCJ_00271 |
291389 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4855C>T |
None |
M0001845 |
IPCGDNCJ_00272 |
291595 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3946C>T |
None |
M0001846 |
IPCGDNCJ_00275 |
291685 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
30G>A |
Lys10Lys |
M0001847 |
IPCGDNCJ_00275 |
292190 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
535T>G |
Ser179Ala |
M0001848 |
IPCGDNCJ_00275 |
292294 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
639A>G |
Ala213Ala |
M0001849 |
IPCGDNCJ_00275 |
292393 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
738C>T |
Arg246Arg |
M0001850 |
IPCGDNCJ_00275 |
292417 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
762T>A |
Ala254Ala |
M0001851 |
IPCGDNCJ_00275 |
292420 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
765G>T |
Ala255Ala |
M0001852 |
IPCGDNCJ_00275 |
292498 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
843C>T |
His281His |
M0001853 |
IPCGDNCJ_00275 |
292579 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
924A>T |
Thr308Thr |
M0001854 |
IPCGDNCJ_00275 |
293125 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1470A>G |
Gln490Gln |
M0001855 |
IPCGDNCJ_00275 |
293152 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1497C>T |
Tyr499Tyr |
M0001856 |
IPCGDNCJ_00275 |
293362 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1707G>A |
Leu569Leu |
M0001857 |
IPCGDNCJ_00275 |
293389 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1734G>T |
Arg578Arg |
M0001858 |
IPCGDNCJ_00275 |
293467 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1812T>C |
Ile604Ile |
M0001859 |
IPCGDNCJ_00275 |
293995 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2340C>A |
Val780Val |
M0001860 |
IPCGDNCJ_00275 |
294112 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2457T>G |
Asp819Glu |
M0001861 |
IPCGDNCJ_00275 |
294146 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
2491G>A |
Asp831Asn |
M0001862 |
IPCGDNCJ_00275 |
294157 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2502A>G |
Lys834Lys |
M0001863 |
IPCGDNCJ_00276 |
294488 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
177T>C |
Asp59Asp |
M0001864 |
IPCGDNCJ_00276 |
294731 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
420T>C |
Phe140Phe |
M0001865 |
IPCGDNCJ_00276 |
294908 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
597C>T |
Ala199Ala |
M0001866 |
IPCGDNCJ_00276 |
294914 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
603T>G |
Leu201Leu |
M0001867 |
IPCGDNCJ_00276 |
294917 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
606G>A |
Arg202Arg |
M0001868 |
IPCGDNCJ_00276 |
294943 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
632A>C |
Lys211Thr |
M0001869 |
IPCGDNCJ_00276 |
294974 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
663T>C |
Ile221Ile |
M0001870 |
IPCGDNCJ_00274 |
295030 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3642T>A |
None |
M0001871 |
IPCGDNCJ_00278 |
296278 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
843A>T |
Ile281Ile |
M0001872 |
IPCGDNCJ_00280 |
298777 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
289G>T |
Ala97Ser |
M0001873 |
IPCGDNCJ_00280 |
298923 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
143C>T |
Thr48Ile |
M0001874 |
IPCGDNCJ_00280 |
298930 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
136A>T |
Ile46Leu |
M0001875 |
IPCGDNCJ_00280 |
298933 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
133G>A |
Asp45Asn |
M0001876 |
IPCGDNCJ_00036 |
32347 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
532C>G |
His178Asp |
M0001877 |
IPCGDNCJ_00036 |
32623 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
256A>T |
Ile86Leu |
M0001878 |
IPCGDNCJ_00032 |
32880 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4921T>G |
None |
M0001879 |
IPCGDNCJ_00032 |
32881 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4922A>G |
None |
M0001880 |
IPCGDNCJ_00034 |
32995 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1771C>T |
None |
M0001881 |
IPCGDNCJ_00034 |
33011 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1787C>A |
None |
M0001882 |
IPCGDNCJ_00034 |
33027 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1803A>T |
None |
M0001883 |
IPCGDNCJ_00034 |
33047 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1823T>C |
None |
M0001884 |
IPCGDNCJ_00037 |
33229 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
10A>G |
Ile4Val |
M0001885 |
IPCGDNCJ_00038 |
34446 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
420A>G |
Lys140Lys |
M0001886 |
IPCGDNCJ_00038 |
34669 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
643T>A |
Ser215Thr |
M0001887 |
IPCGDNCJ_00034 |
35462 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4238A>G |
None |
M0001888 |
IPCGDNCJ_00034 |
35491 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4267A>G |
None |
M0001889 |
IPCGDNCJ_00034 |
35542 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4318G>T |
None |
M0001890 |
IPCGDNCJ_00034 |
35600 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4376A>G |
None |
M0001891 |
IPCGDNCJ_00165 |
166526 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1227A>G |
Leu409Leu |
M0001892 |
IPCGDNCJ_00165 |
166820 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
933C>T |
Ile311Ile |
M0001893 |
IPCGDNCJ_00165 |
166821 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
932T>G |
Ile311Ser |
M0001894 |
IPCGDNCJ_00165 |
166838 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
915T>G |
Gly305Gly |
M0001895 |
IPCGDNCJ_00165 |
166886 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
867C>T |
Phe289Phe |
M0001896 |
IPCGDNCJ_00165 |
166940 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
813C>T |
Ile271Ile |
M0001897 |
IPCGDNCJ_00166 |
168866 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1296C>A |
Thr432Thr |
M0001898 |
IPCGDNCJ_00166 |
169127 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1035G>A |
Glu345Glu |
M0001899 |
IPCGDNCJ_00166 |
169163 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
999A>G |
Leu333Leu |
M0001900 |
IPCGDNCJ_00166 |
169172 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
990C>T |
Gly330Gly |
M0001901 |
IPCGDNCJ_00166 |
169178 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
984A>G |
Leu328Leu |
M0001902 |
IPCGDNCJ_00166 |
169510 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
652C>T |
Leu218Leu |
M0001903 |
IPCGDNCJ_00166 |
169601 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
561T>C |
Asp187Asp |
M0001904 |
IPCGDNCJ_00166 |
169616 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
546A>T |
Gly182Gly |
M0001905 |
IPCGDNCJ_00166 |
169631 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
531T>C |
Val177Val |
M0001906 |
IPCGDNCJ_00168 |
172237 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
36A>G |
Gly12Gly |
M0001907 |
IPCGDNCJ_00169 |
172727 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1098C>T |
Asp366Asp |
M0001908 |
IPCGDNCJ_00170 |
173955 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
684G>A |
Glu228Glu |
M0001909 |
IPCGDNCJ_00164 |
165088 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1164G>A |
Met388Ile |
M0001910 |
IPCGDNCJ_00164 |
165442 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
810T>C |
Pro270Pro |
M0001911 |
IPCGDNCJ_00164 |
165963 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
289A>T |
Asn97Tyr |
M0001912 |
IPCGDNCJ_00164 |
166075 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
177T>A |
Pro59Pro |
M0001913 |
IPCGDNCJ_00165 |
166385 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1368C>T |
His456His |
M0001914 |
IPCGDNCJ_00165 |
166733 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1020A>G |
Ala340Ala |
M0001915 |
IPCGDNCJ_00165 |
166766 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
987A>T |
Ala329Ala |
M0001916 |
IPCGDNCJ_00165 |
166889 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
864A>G |
Gln288Gln |
M0001917 |
IPCGDNCJ_00165 |
167687 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
66C>T |
Ala22Ala |
M0001918 |
IPCGDNCJ_00166 |
167879 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2283G>A |
Glu761Glu |
M0001919 |
IPCGDNCJ_00166 |
167894 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2268T>C |
His756His |
M0001920 |
IPCGDNCJ_00166 |
168004 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2158C>A |
Leu720Ile |
M0001921 |
IPCGDNCJ_00166 |
168389 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1773T>G |
Arg591Arg |
M0001922 |
IPCGDNCJ_00166 |
168466 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1696A>T |
Thr566Ser |
M0001923 |
IPCGDNCJ_00166 |
169064 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1098G>A |
Lys366Lys |
M0001924 |
IPCGDNCJ_00166 |
169109 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1053A>G |
Arg351Arg |
M0001925 |
IPCGDNCJ_00166 |
169807 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
355A>G |
Thr119Ala |
M0001926 |
IPCGDNCJ_00166 |
169925 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
237C>T |
Tyr79Tyr |
M0001927 |
IPCGDNCJ_00166 |
170032 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
130T>C |
Leu44Leu |
M0001928 |
IPCGDNCJ_00167 |
170487 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Val80Val |
M0001929 |
IPCGDNCJ_00169 |
172274 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1551G>A |
Lys517Lys |
M0001930 |
IPCGDNCJ_00169 |
172394 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1431C>T |
Tyr477Tyr |
M0001931 |
IPCGDNCJ_00169 |
172523 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1302C>T |
Leu434Leu |
M0001932 |
IPCGDNCJ_00169 |
172565 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1260A>C |
Ser420Ser |
M0001933 |
IPCGDNCJ_00169 |
172570 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1255G>A |
Val419Ile |
M0001934 |
IPCGDNCJ_00169 |
172622 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1203G>A |
Glu401Glu |
M0001935 |
IPCGDNCJ_00169 |
172655 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1170A>T |
Ile390Ile |
M0001936 |
IPCGDNCJ_00169 |
173633 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
192T>C |
His64His |
M0001937 |
IPCGDNCJ_00169 |
173636 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
189C>T |
Leu63Leu |
M0001938 |
IPCGDNCJ_00170 |
173907 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
732C>T |
Ile244Ile |
M0001939 |
IPCGDNCJ_00170 |
174141 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
498C>T |
Asn166Asn |
M0001940 |
IPCGDNCJ_00166 |
174753 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4592A>G |
None |
M0001941 |
IPCGDNCJ_00171 |
174828 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
207A>G |
Pro69Pro |
M0001942 |
IPCGDNCJ_00282 |
300538 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
806G>A |
Ser269Asn |
M0001943 |
IPCGDNCJ_00282 |
300550 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
818T>C |
Val273Ala |
M0001944 |
IPCGDNCJ_00282 |
300560 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
828G>A |
Gln276Gln |
M0001945 |
IPCGDNCJ_00278 |
300784 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3664A>G |
None |
M0001946 |
IPCGDNCJ_00285 |
302858 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
426G>A |
Gly142Gly |
M0001947 |
IPCGDNCJ_00285 |
302900 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
384T>A |
Gly128Gly |
M0001948 |
IPCGDNCJ_00285 |
302930 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
354C>T |
Gly118Gly |
M0001949 |
IPCGDNCJ_00285 |
302931 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
353G>A |
Gly118Asp |
M0001950 |
IPCGDNCJ_00285 |
302982 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
302G>A |
Arg101Lys |
M0001951 |
IPCGDNCJ_00285 |
303068 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
216G>T |
Leu72Phe |
M0001952 |
IPCGDNCJ_00285 |
303096 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
188A>T |
Tyr63Phe |
M0001953 |
IPCGDNCJ_00286 |
303869 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
477C>T |
Val159Val |
M0001954 |
IPCGDNCJ_00281 |
304357 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4952A>G |
None |
M0001955 |
IPCGDNCJ_00287 |
305014 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
361T>C |
Leu121Leu |
M0001956 |
IPCGDNCJ_00275 |
293212 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1557A>G |
Lys519Lys |
M0001957 |
IPCGDNCJ_00275 |
293227 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1572A>T |
Ala524Ala |
M0001958 |
IPCGDNCJ_00275 |
293275 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1620G>A |
Gln540Gln |
M0001959 |
IPCGDNCJ_00275 |
294014 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2359G>T |
Ala787Ser |
M0001960 |
IPCGDNCJ_00275 |
294028 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2373A>T |
Ser791Ser |
M0001961 |
IPCGDNCJ_00278 |
299162 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2042A>G |
None |
M0001962 |
IPCGDNCJ_00281 |
299283 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
123T>A |
Ser41Ser |
M0001963 |
IPCGDNCJ_00281 |
299292 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
114A>G |
Ala38Ala |
M0001964 |
IPCGDNCJ_00282 |
300086 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
354C>A |
Ala118Ala |
M0001965 |
IPCGDNCJ_00282 |
300089 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
357A>T |
Thr119Thr |
M0001966 |
IPCGDNCJ_00282 |
300185 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
453G>T |
Ala151Ala |
M0001967 |
IPCGDNCJ_00282 |
300229 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
497A>T |
Lys166Ile |
M0001968 |
IPCGDNCJ_00282 |
300251 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
519T>C |
Asp173Asp |
M0001969 |
IPCGDNCJ_00282 |
300259 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
527A>G |
Lys176Arg |
M0001970 |
IPCGDNCJ_00282 |
300377 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
645G>T |
Ser215Ser |
M0001971 |
IPCGDNCJ_00282 |
300433 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
701C>T |
Ser234Leu |
M0001972 |
IPCGDNCJ_00282 |
300462 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
730G>A |
Glu244Lys |
M0001973 |
IPCGDNCJ_00278 |
300719 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3599C>A |
None |
M0001974 |
IPCGDNCJ_00278 |
300723 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3603C>T |
None |
M0001975 |
IPCGDNCJ_00283 |
300899 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
648T>G |
Ala216Ala |
M0001976 |
IPCGDNCJ_00283 |
300908 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
639T>C |
Gly213Gly |
M0001977 |
IPCGDNCJ_00283 |
300920 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
627C>T |
Asn209Asn |
M0001978 |
IPCGDNCJ_00283 |
300926 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
621C>T |
Ser207Ser |
M0001979 |
IPCGDNCJ_00283 |
300947 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
600C>T |
Ser200Ser |
M0001980 |
IPCGDNCJ_00283 |
300962 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
585A>T |
Ala195Ala |
M0001981 |
IPCGDNCJ_00283 |
300980 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
567T>C |
Gly189Gly |
M0001982 |
IPCGDNCJ_00283 |
301010 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
537C>T |
Ser179Ser |
M0001983 |
IPCGDNCJ_00196 |
204781 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
99A>G |
Val33Val |
M0001984 |
IPCGDNCJ_00196 |
205147 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
465A>G |
Gly155Gly |
M0001985 |
IPCGDNCJ_00196 |
205246 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
564T>C |
His188His |
M0001986 |
IPCGDNCJ_00193 |
205293 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4766T>C |
None |
M0001987 |
IPCGDNCJ_00193 |
205456 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4929G>A |
None |
M0001988 |
IPCGDNCJ_00199 |
206518 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1589C>T |
None |
M0001989 |
IPCGDNCJ_00202 |
210794 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
374T>C |
Leu125Pro |
M0001990 |
IPCGDNCJ_00198 |
211225 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3424T>G |
None |
M0001991 |
IPCGDNCJ_00198 |
211244 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3443A>G |
None |
M0001992 |
IPCGDNCJ_00240 |
261129 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4252G>A |
None |
M0001993 |
IPCGDNCJ_00283 |
301511 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
36A>C |
Gly12Gly |
M0001994 |
IPCGDNCJ_00283 |
301253 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
294A>T |
Gly98Gly |
M0001995 |
IPCGDNCJ_00283 |
301397 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
150A>T |
Ala50Ala |
M0001996 |
IPCGDNCJ_00283 |
301436 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Asp37Asp |
M0001997 |
IPCGDNCJ_00283 |
301454 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
93G>A |
Glu31Glu |
M0001998 |
IPCGDNCJ_00283 |
301475 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
72G>T |
Gly24Gly |
M0001999 |
IPCGDNCJ_00284 |
301741 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
558T>C |
Arg186Arg |
M0002000 |
IPCGDNCJ_00284 |
301789 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
510A>G |
Thr170Thr |
M0002001 |
IPCGDNCJ_00284 |
301796 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
503C>T |
Thr168Ile |
M0002002 |
IPCGDNCJ_00284 |
301829 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
470C>T |
Ala157Val |
M0002003 |
IPCGDNCJ_00284 |
301872 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
427G>A |
Ala143Thr |
M0002004 |
IPCGDNCJ_00283 |
301498 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
49T>C |
Leu17Leu |
M0002005 |
IPCGDNCJ_00283 |
301532 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
15A>T |
Gly5Gly |
M0002006 |
IPCGDNCJ_00284 |
301974 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
325A>G |
Ser109Gly |
M0002007 |
IPCGDNCJ_00284 |
302041 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
258G>A |
Thr86Thr |
M0002008 |
IPCGDNCJ_00284 |
302068 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
231G>A |
Lys77Lys |
M0002009 |
IPCGDNCJ_00284 |
302099 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
200T>A |
Leu67His |
M0002010 |
IPCGDNCJ_00284 |
302163 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
136A>G |
Thr46Ala |
M0002011 |
IPCGDNCJ_00284 |
302166 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
133A>G |
Ile45Val |
M0002012 |
IPCGDNCJ_00284 |
302178 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
121T>C |
Ser41Pro |
M0002013 |
IPCGDNCJ_00284 |
302204 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
95G>T |
Gly32Val |
M0002014 |
IPCGDNCJ_00279 |
302383 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4290C>A |
None |
M0002015 |
IPCGDNCJ_00279 |
302394 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4301C>A |
None |
M0002016 |
IPCGDNCJ_00279 |
302443 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4350C>T |
None |
M0002017 |
IPCGDNCJ_00285 |
302765 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
519A>G |
Glu173Glu |
M0002018 |
IPCGDNCJ_00285 |
303168 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
116C>T |
Pro39Leu |
M0002019 |
IPCGDNCJ_00286 |
303569 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
777C>T |
Asn259Asn |
M0002020 |
IPCGDNCJ_00286 |
303668 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
678A>G |
Pro226Pro |
M0002021 |
IPCGDNCJ_00286 |
303786 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
560C>T |
Thr187Ile |
M0002022 |
IPCGDNCJ_00286 |
303989 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
357T>A |
Gly119Gly |
M0002023 |
IPCGDNCJ_00286 |
304254 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
92T>C |
Leu31Ser |
M0002024 |
IPCGDNCJ_00283 |
304516 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2970G>C |
None |
M0002025 |
IPCGDNCJ_00283 |
304545 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2999G>A |
None |
M0002026 |
IPCGDNCJ_00283 |
304580 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3034A>T |
None |
M0002027 |
IPCGDNCJ_00287 |
304728 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
75T>C |
Ile25Ile |
M0002028 |
IPCGDNCJ_00287 |
305154 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
501A>T |
Ala167Ala |
M0002029 |
IPCGDNCJ_00287 |
305158 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
505T>C |
Leu169Leu |
M0002030 |
IPCGDNCJ_00146 |
148644 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
857C>A |
Ala286Asp |
M0002031 |
IPCGDNCJ_00180 |
185629 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
914G>A |
Arg305Lys |
M0002032 |
IPCGDNCJ_00283 |
301100 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
447G>A |
Thr149Thr |
M0002033 |
IPCGDNCJ_00028 |
22871 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
261C>T |
Ile87Ile |
M0002034 |
IPCGDNCJ_00022 |
23256 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4997A>G |
None |
M0002035 |
IPCGDNCJ_00029 |
23491 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1438A>G |
Lys480Glu |
M0002036 |
IPCGDNCJ_00031 |
26408 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
826C>T |
Leu276Leu |
M0002037 |
IPCGDNCJ_00274 |
290894 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
495T>C |
Asp165Asp |
M0002038 |
IPCGDNCJ_00274 |
290917 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
472A>G |
Ile158Val |
M0002039 |
IPCGDNCJ_00275 |
292165 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
510G>A |
Pro170Pro |
M0002040 |
IPCGDNCJ_00201 |
210356 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
37T>G |
Leu13Val |
M0002041 |
IPCGDNCJ_00239 |
255330 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
444G>A |
Met148Ile |
M0002042 |
IPCGDNCJ_00202 |
215474 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4307T>C |
None |
M0002043 |
IPCGDNCJ_00202 |
215572 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4405A>T |
None |
M0002044 |
IPCGDNCJ_00202 |
215580 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4413T>G |
None |
M0002045 |
IPCGDNCJ_00202 |
215581 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4414C>T |
None |
M0002046 |
IPCGDNCJ_00202 |
215584 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4417A>G |
None |
M0002047 |
IPCGDNCJ_00202 |
215587 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4420A>G |
None |
M0002048 |
IPCGDNCJ_00202 |
215590 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4423A>G |
None |
M0002049 |
IPCGDNCJ_00202 |
215603 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4436G>A |
None |
M0002050 |
IPCGDNCJ_00202 |
215608 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4441T>G |
None |
M0002051 |
IPCGDNCJ_00207 |
215645 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
969A>G |
Gln323Gln |
M0002052 |
IPCGDNCJ_00207 |
215666 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
948T>A |
Ala316Ala |
M0002053 |
IPCGDNCJ_00207 |
215933 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
681T>C |
Phe227Phe |
M0002054 |
IPCGDNCJ_00207 |
215951 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
663C>A |
Ala221Ala |
M0002055 |
IPCGDNCJ_00207 |
216416 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
198A>T |
Ile66Ile |
M0002056 |
IPCGDNCJ_00207 |
216463 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
151G>A |
Asp51Asn |
M0002057 |
IPCGDNCJ_00207 |
216508 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
106A>G |
Ile36Val |
M0002058 |
IPCGDNCJ_00205 |
216626 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1924C>A |
None |
M0002059 |
IPCGDNCJ_00187 |
193226 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
58A>G |
Ser20Gly |
M0002060 |
IPCGDNCJ_00184 |
193376 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1702A>G |
None |
M0002061 |
IPCGDNCJ_00184 |
193681 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2007T>C |
None |
M0002062 |
IPCGDNCJ_00188 |
193851 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
529C>T |
His177Tyr |
M0002063 |
IPCGDNCJ_00197 |
205885 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
270C>T |
Val90Val |
M0002064 |
IPCGDNCJ_00197 |
205945 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
330T>A |
Ile110Ile |
M0002065 |
IPCGDNCJ_00199 |
206335 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1772C>T |
None |
M0002066 |
IPCGDNCJ_00199 |
206404 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1703T>C |
None |
M0002067 |
IPCGDNCJ_00199 |
206429 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1678T>A |
None |
M0002068 |
IPCGDNCJ_00199 |
206477 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1630A>G |
None |
M0002069 |
IPCGDNCJ_00199 |
206490 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1617G>A |
None |
M0002070 |
IPCGDNCJ_00199 |
206500 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1607C>T |
None |
M0002071 |
IPCGDNCJ_00199 |
206513 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1594G>A |
None |
M0002072 |
IPCGDNCJ_00199 |
206525 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1582A>G |
None |
M0002073 |
IPCGDNCJ_00199 |
206553 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1554G>C |
None |
M0002074 |
IPCGDNCJ_00199 |
206570 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1537T>G |
None |
M0002075 |
IPCGDNCJ_00199 |
206592 |
7 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1515G>A |
None |
M0002076 |
IPCGDNCJ_00198 |
207447 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
355G>A |
Glu119Lys |
M0002077 |
IPCGDNCJ_00198 |
207502 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
300T>C |
Ile100Ile |
M0002078 |
IPCGDNCJ_00201 |
209670 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
723A>T |
Ala241Ala |
M0002079 |
IPCGDNCJ_00201 |
209895 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
498G>A |
Val166Val |
M0002080 |
IPCGDNCJ_00202 |
210772 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
396G>A |
Gln132Gln |
M0002081 |
IPCGDNCJ_00198 |
211232 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3431G>A |
None |
M0002082 |
IPCGDNCJ_00198 |
211235 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3434G>T |
None |
M0002083 |
IPCGDNCJ_00233 |
255155 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4862A>T |
None |
M0002084 |
IPCGDNCJ_00189 |
195092 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
549C>T |
Ser183Ser |
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 |
IPCGDNCJ_00115 |
VFG001314 |
Aureolysin |
70.9 |
9.9e-212 |
1 |
506 |
1.0 |
0.9941 |
Exoenzyme |
zinc metalloproteinase aureolysin |
experiment |
IPCGDNCJ_00189 |
VFG001285 |
Intercellular adhesion proteins |
81.3 |
3.2e-200 |
1 |
412 |
1.0 |
1 |
Biofilm |
N-acetylglucosaminyltransferase, involved in polysaccharide intercellular adhesin(PIA) synthesis |
experiment |
IPCGDNCJ_00192 |
VFG001288 |
Intercellular adhesion proteins |
76.9 |
9e-151 |
1 |
350 |
0.9804 |
1 |
Biofilm |
intercellular adhesion protein C, involved in polysaccharide intercellular adhesin(PIA) synthesis |
experiment |
IPCGDNCJ_00115 |
VFG001314 |
Aureolysin |
70.9 |
7.4e-211 |
1 |
506 |
1.0 |
0.9941 |
Exoenzyme |
zinc metalloproteinase aureolysin |
prediction |
IPCGDNCJ_00188 |
VFG004552 |
Intercellular adhesion proteins |
77.4 |
1.5e-79 |
1 |
186 |
1.0 |
1.0054 |
Biofilm |
ica operon transcriptional regulator IcaR |
prediction |
IPCGDNCJ_00189 |
VFG004542 |
Intercellular adhesion proteins |
83.3 |
2.5e-204 |
1 |
412 |
1.0 |
1 |
Biofilm |
N-acetylglucosaminyltransferase, involved in polysaccharide intercellular adhesin(PIA) synthesis |
prediction |
IPCGDNCJ_00190 |
VFG004533 |
Intercellular adhesion proteins |
78.2 |
4.1e-36 |
1 |
101 |
1.0 |
1 |
Biofilm |
intercellular adhesion protein D, involved in polysaccharide intercellular adhesin(PIA) synthesis |
prediction |
IPCGDNCJ_00191 |
VFG004523 |
Intercellular adhesion proteins |
71.1 |
4e-121 |
1 |
287 |
1.0 |
0.9931 |
Biofilm |
N-deacetylase, involved in polysaccharide intercellular adhesin(PIA) synthesis |
prediction |
IPCGDNCJ_00192 |
VFG004513 |
Intercellular adhesion proteins |
82.8 |
2.1e-167 |
1 |
354 |
0.9916 |
0.9972 |
Biofilm |
intercellular adhesion protein C, involved in polysaccharide intercellular adhesin(PIA) synthesis |
prediction |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
IPCGDNCJ_00241 |
ARO:3004674 |
70.1 |
1.59e-73 |
3 |
139 |
0.9786 |
0.9856 |
phosphonic acid antibiotic |
fosfomycin thiol transferase |
antibiotic inactivation |
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 |
IPCGDNCJ_00033 |
PHI:6628 |
bcaP |
87.8 |
5.8e-201 |
1 |
411 |
1.0000 |
0.8527 |
rodents |
skin infection; food poisoning; respiratory disease |
BCAA transporter |
unaffected pathogenicity |
IPCGDNCJ_00043 |
PHI:6191 |
Lqo |
86.3 |
4.6e-261 |
1 |
497 |
0.9920 |
1.0000 |
rodents |
skin infection; food poisoning; respiratory disease |
L-lactate-quinone oxidoreductases |
reduced virulence |
IPCGDNCJ_00108 |
PHI:3474 |
arcB |
76.2 |
7.9e-72 |
3 |
166 |
0.9762 |
0.8787 |
rodents |
pneumococcal pneumonia |
part of the arginine deiminase system |
reduced virulence |
IPCGDNCJ_00109 |
PHI:10470 |
arcA |
85.5 |
6.8e-148 |
1 |
289 |
1.0000 |
0.9635 |
rodents |
skin infection |
arginine deiminase |
unaffected pathogenicity |
IPCGDNCJ_00110 |
PHI:10470 |
arcA |
80.4 |
4.8e-44 |
1 |
107 |
0.9145 |
0.9635 |
rodents |
skin infection |
arginine deiminase |
unaffected pathogenicity |
IPCGDNCJ_00115 |
PHI:11228 |
aur |
70.9 |
2.4e-212 |
1 |
506 |
1.0000 |
0.9980 |
rodents |
skin infection; food poisoning; respiratory disease |
zinc metalloproteinase aureolysin |
increased virulence (hypervirulence) |
IPCGDNCJ_00189 |
PHI:9883 |
icaA |
81.6 |
3.8e-200 |
1 |
412 |
1.0000 |
1.0000 |
rodents |
abscess; sepsis |
poly-beta-1,6-N-acetyl-D-glucosamine synthase |
unaffected pathogenicity |
IPCGDNCJ_00192 |
PHI:9885 |
icaC |
76.9 |
2.4e-150 |
1 |
350 |
0.9804 |
1.0000 |
rodents |
abscess; sepsis |
probable poly-beta-1,6-N-acetyl-D-glucosamine export protein |
unaffected pathogenicity |
IPCGDNCJ_00204 |
PHI:6191 |
Lqo |
83.7 |
1e-252 |
1 |
497 |
0.9980 |
1.0000 |
rodents |
skin infection; food poisoning; respiratory disease |
L-lactate-quinone oxidoreductases |
reduced virulence |
IPCGDNCJ_00247 |
PHI:2634 |
argF |
91.3 |
1.3e-179 |
1 |
333 |
1.0000 |
1.0000 |
rodents |
community-acquired infection; nosocomial infection |
ornithine carbamoyltransferase |
unaffected pathogenicity |
IPCGDNCJ_00250 |
PHI:6629 |
brnQ1 |
73.2 |
8.3e-185 |
2 |
452 |
0.9978 |
1.0000 |
rodents |
skin infection; food poisoning; respiratory disease |
BCAA transporter |
unaffected pathogenicity |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |
IPCGDNCJ_00076 |
9.B.415.2.2 |
91 |
2.8e-127 |
1 |
272 |
1.0000 |
1.0000 |
9 |
Incompletely Characterized Transport Systems |
9.B |
Putative transport proteins |
9.B.415 |
The Putative Transporter Auxiliary Factor AuxB (AuxB) Family |
IPCGDNCJ_00152 |
3.A.1.12.16 |
74.3 |
3.2e-130 |
1 |
317 |
0.9969 |
0.9936 |
3 |
Primary Active Transporters |
3.A |
P-P-bond-hydrolysis-driven transporters |
3.A.1 |
The ATP-binding Cassette (ABC) Superfamily |
IPCGDNCJ_00189 |
4.D.1.1.2 |
83.3 |
1.9e-204 |
1 |
412 |
1.0000 |
1.0000 |
4 |
Group Translocators |
4.D |
Polysaccharide Synthase/Exporters |
4.D.1 |
The Putative Vectorial Glycosyl Polymerization (VGP) Family |
IPCGDNCJ_00192 |
9.B.97.1.7 |
76.9 |
5.3e-150 |
1 |
350 |
0.9804 |
1.0000 |
9 |
Incompletely Characterized Transport Systems |
9.B |
Putative transport proteins |
9.B.97 |
The Acyltransferase-3/Putative Acetyl-CoA Transporter (ATAT) Family |
IPCGDNCJ_00249 |
2.A.118.1.7 |
73.2 |
3.7e-213 |
9 |
518 |
0.9846 |
0.9865 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.118 |
The Basic Amino Acid Antiporter (ArcD) Family |
IPCGDNCJ_00263 |
2.A.1.46.10 |
82.2 |
1.9e-177 |
1 |
388 |
0.9898 |
0.9773 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.1 |
The Major Facilitator Superfamily (MFS) |
IPCGDNCJ_00264 |
3.A.1.5.33 |
72.7 |
4.7e-97 |
1 |
249 |
1.0000 |
0.9188 |
3 |
Primary Active Transporters |
3.A |
P-P-bond-hydrolysis-driven transporters |
3.A.1 |
The ATP-binding Cassette (ABC) Superfamily |
IPCGDNCJ_00266 |
3.A.1.5.43 |
80.9 |
1e-127 |
1 |
288 |
1.0000 |
1.1566 |
3 |
Primary Active Transporters |
3.A |
P-P-bond-hydrolysis-driven transporters |
3.A.1 |
The ATP-binding Cassette (ABC) Superfamily |
IPCGDNCJ_00267 |
3.A.1.5.43 |
81.5 |
1.1e-140 |
1 |
308 |
0.9935 |
1.2369 |
3 |
Primary Active Transporters |
3.A |
P-P-bond-hydrolysis-driven transporters |
3.A.1 |
The ATP-binding Cassette (ABC) Superfamily |
IPCGDNCJ_00268 |
3.A.1.5.33 |
84.4 |
4.9e-269 |
1 |
532 |
1.0000 |
1.9631 |
3 |
Primary Active Transporters |
3.A |
P-P-bond-hydrolysis-driven transporters |
3.A.1 |
The ATP-binding Cassette (ABC) Superfamily |