Q9UII4
PR
Gene name |
HERC5 (CEB1, CEBP1) |
Protein name |
E3 ISG15--protein ligase HERC5 |
Names |
Cyclin-E-binding protein 1, HECT domain and RCC1-like domain-containing protein 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51191 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q9UII4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8Y4Z | NMR | - | A | 911-1024 | PDB |
| AF-Q9UII4-F1 | Predicted | AlphaFoldDB |
775 variants for Q9UII4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA357641662 rs1319245086 |
6 | R>L | No |
ClinGen TOPMed |
|
|
rs1021573876 CA100916268 |
10 | R>W | No |
ClinGen Ensembl |
|
|
rs998877663 CA100916274 |
13 | G>W | No |
ClinGen gnomAD |
|
|
rs1019686627 CA100916276 |
14 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1192383918 CA357641833 |
20 | A>V | No |
ClinGen TOPMed |
|
|
rs746265955 CA3006213 |
22 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs756320554 CA3006214 |
25 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA100916311 rs1009678388 |
26 | A>G | No |
ClinGen TOPMed |
|
|
rs780145799 CA3006215 |
27 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA357641995 rs1303372147 |
29 | P>L | No |
ClinGen gnomAD |
|
|
CA3006216 rs749308081 |
30 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1314166607 CA357642010 |
31 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1314166607 CA357642007 |
31 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs768709704 CA3006217 |
32 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357642022 rs1377157735 |
32 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA100916322 rs965504784 |
33 | L>P | No |
ClinGen Ensembl |
|
|
CA357642076 rs1212895473 |
34 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1211376312 CA357642118 |
36 | F>C | No |
ClinGen gnomAD |
|
|
CA357642153 rs1273812602 |
38 | S>N | No |
ClinGen Ensembl |
|
|
CA3006218 rs774484061 |
38 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006221 rs771954498 |
40 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006220 rs771954498 |
40 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA100916340 rs771954498 |
40 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357642208 rs1203408570 |
41 | G>D | No |
ClinGen gnomAD |
|
|
rs1483001841 CA357642244 |
43 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs551516778 CA100916341 |
48 | R>L | No |
ClinGen 1000Genomes |
|
|
rs1578459352 CA357642328 |
48 | R>W | No |
ClinGen Ensembl |
|
|
rs760416118 CA3006222 |
49 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006223 rs765985959 |
49 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760416118 CA357642345 |
49 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs954518315 CA100916354 |
50 | V>G | No |
ClinGen Ensembl |
|
|
CA357642374 rs1412196075 |
50 | V>L | No |
ClinGen TOPMed |
|
|
CA3006224 rs776157603 |
53 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357642575 rs1360795824 |
59 | S>W | No |
ClinGen gnomAD |
|
|
CA357642597 rs1417166219 |
60 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA357642591 rs1417166219 |
60 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA357642616 rs1468214519 |
61 | G>E | No |
ClinGen gnomAD |
|
|
rs908206491 CA100916372 |
62 | R>L | No |
ClinGen TOPMed |
|
|
CA3006225 rs759319513 |
62 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA357642649 rs1358056166 |
64 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs777785079 CA3006227 |
64 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208599020 CA357642662 |
65 | V>A | No |
ClinGen TOPMed |
|
|
rs1578459465 CA357642658 |
65 | V>F | No |
ClinGen Ensembl |
|
|
CA3006228 rs368506162 |
71 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3006230 rs750735560 |
74 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3006231 rs756449535 |
75 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357642783 rs1214089271 |
75 | V>G | No |
ClinGen TOPMed |
|
|
CA100916393 rs756449535 |
75 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295361920 CA357642798 |
77 | Q>H | No |
ClinGen TOPMed |
|
|
CA357642795 rs1360049681 |
77 | Q>P | No |
ClinGen TOPMed |
|
|
CA3006233 rs749511746 |
80 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749511746 CA357642811 |
80 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357642815 rs1463960770 |
80 | A>V | No |
ClinGen TOPMed |
|
|
rs1056331994 CA100916404 |
81 | G>A | No |
ClinGen TOPMed |
|
|
CA357642822 rs1232555119 |
82 | S>G | No |
ClinGen gnomAD |
|
|
rs748252354 CA100916416 |
82 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947623628 CA100916425 |
84 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA357642841 rs1256510923 |
85 | A>T | No |
ClinGen TOPMed |
|
|
CA100916456 rs919051468 |
86 | R>W | No |
ClinGen TOPMed |
|
|
rs527971957 CA3006238 |
87 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357642852 rs527971957 |
87 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770615525 CA3006240 |
88 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006239 rs746755712 |
88 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758417506 CA3006259 |
91 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363111161 CA357643306 |
94 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA357643336 rs1342914670 |
95 | K>R | No |
ClinGen gnomAD |
|
|
CA357643359 rs1429316715 |
96 | N>I | No |
ClinGen gnomAD |
|
|
rs1269977486 CA357643380 |
97 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1269977486 CA357643377 |
97 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA100917548 rs1007446328 |
98 | K>R | No |
ClinGen Ensembl |
|
|
rs1380361930 CA357643446 |
99 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA357643448 rs1230185886 |
100 | H>Y | No |
ClinGen gnomAD |
|
|
rs781110845 CA3006263 |
102 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs770941110 CA3006262 |
102 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006265 rs75070724 |
103 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3006266 rs532041831 |
104 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs903300871 CA100917562 |
104 | Q>H | No |
ClinGen TOPMed |
|
|
rs1241246621 CA357643548 |
104 | Q>R | No |
ClinGen gnomAD |
|
|
rs370884693 CA3006267 |
106 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768048195 CA3006268 |
107 | E>G | No |
ClinGen ExAC |
|
| TCGA novel | 107 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs999302445 CA100917574 |
109 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1158712044 CA357643708 |
114 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3006270 rs761067861 |
115 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs915189839 CA100917614 |
118 | P>Q | No |
ClinGen Ensembl |
|
|
rs754165352 CA3006272 |
118 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA357643752 rs754165352 |
118 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA357643771 rs1450590902 |
119 | F>L | No |
ClinGen gnomAD |
|
|
CA357643762 rs1360065962 |
119 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs550535705 CA3006274 |
121 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759895396 CA3006273 |
121 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759895396 CA357643792 |
121 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006275 rs752899204 |
122 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3006276 rs758710760 |
123 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs533028212 CA3006277 |
123 | N>S | Variant assessed as Somatic; 4.793e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA100917653 rs533028212 |
123 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs765480719 CA100917661 |
124 | Y>S | No |
ClinGen gnomAD |
|
|
CA357643852 rs1578461629 |
125 | S>N | No |
ClinGen Ensembl |
|
|
rs1578461636 CA357643905 |
128 | H>P | No |
ClinGen Ensembl |
|
|
rs1442977726 CA357643917 |
129 | L>P | No |
ClinGen gnomAD |
|
|
rs374278831 CA3006299 |
130 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1479788876 CA357643930 |
130 | R>T | No |
ClinGen TOPMed |
|
|
rs780004169 CA100918104 |
131 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1466497687 CA357643979 |
133 | S>N | No |
ClinGen gnomAD |
|
|
rs767764944 CA3006301 |
134 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA357643985 rs1394576333 |
134 | I>V | No |
ClinGen gnomAD |
|
|
CA3006302 rs750381278 |
136 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA100918120 rs1044874112 |
137 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs779976280 CA3006306 |
139 | K>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| rs770854785 | 140 | I>* | Variant assessed as Somatic; 4.952e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357644030 rs1322520060 |
140 | I>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA100918140 rs1013848018 |
140 | I>L | No |
ClinGen Ensembl |
|
|
rs1252910180 CA357644046 |
142 | Q>H | No |
ClinGen gnomAD |
|
|
CA357644043 rs1218985479 |
142 | Q>R | No |
ClinGen gnomAD |
|
|
CA357644051 rs1337033831 |
143 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1221955309 CA357644059 |
144 | T>I | No |
ClinGen gnomAD |
|
|
rs778635414 CA357644079 |
147 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357644076 rs754550903 |
147 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs749133554 CA3006307 |
147 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs754550903 CA3006308 |
147 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1173256502 CA357644081 |
148 | Y>H | No |
ClinGen gnomAD |
|
|
CA3006310 rs747549849 |
151 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771553293 CA3006311 |
152 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1392913717 CA357644114 |
153 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1422859944 CA357644132 |
156 | G>S | No |
ClinGen gnomAD |
|
|
rs1386678382 CA357644153 |
157 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 159 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353818562 CA357644190 |
162 | W>* | No |
ClinGen gnomAD |
|
|
CA357644184 rs1313654825 |
162 | W>R | No |
ClinGen gnomAD |
|
|
rs753513671 CA3006325 |
163 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1485852220 CA357644224 |
167 | H>R | No |
ClinGen gnomAD |
|
|
CA357644234 rs778626830 |
169 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006327 rs778626830 |
169 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886296053 CA357644252 |
172 | V>F | No |
ClinGen gnomAD |
|
|
rs886296053 CA100919381 |
172 | V>I | No |
ClinGen gnomAD |
|
|
CA357644259 rs1183285575 |
173 | G>* | No |
ClinGen gnomAD |
|
|
rs747789900 CA3006328 |
174 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1421002765 CA357644278 |
176 | F>L | No |
ClinGen gnomAD |
|
|
rs371788516 CA100919393 |
178 | S>L | No |
ClinGen ESP |
|
|
rs1361945560 CA357644309 |
181 | T>A | No |
ClinGen gnomAD |
|
|
CA3006329 rs758084674 |
181 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273942788 CA357644318 |
182 | P>L | No |
ClinGen TOPMed |
|
|
rs996627731 CA100919395 |
183 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs777241725 CA3006330 |
183 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA357644326 rs1449994475 |
184 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 185 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376948443 CA357644343 |
186 | E>A | No |
ClinGen gnomAD |
|
|
rs749818689 CA3006334 |
189 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3006333 rs776068909 |
189 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA100919450 rs776068909 |
189 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1265373610 CA357644364 |
190 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA357644370 rs1460300756 |
191 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1560597192 CA357644377 |
192 | P>T | No |
ClinGen Ensembl |
|
|
CA100919483 rs375670181 |
193 | L>W | No |
ClinGen ESP TOPMed |
|
|
rs369435919 CA3006336 |
194 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 195 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA100919503 rs1008037733 |
197 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3006338 rs778905069 |
199 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1403615729 CA357644427 |
200 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA357644431 rs1249916090 |
201 | A>T | No |
ClinGen gnomAD |
|
|
rs773388047 CA3006339 |
202 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs760846705 CA3006340 |
203 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357644452 rs1366965492 |
204 | M>V | No |
ClinGen TOPMed |
|
|
CA3006341 rs766173838 |
205 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753797209 CA3006342 |
205 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA100919533 rs752493374 |
206 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3006343 rs528305264 |
207 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA100919536 rs955926823 |
208 | M>L | No |
ClinGen TOPMed |
|
|
rs1183748460 CA357644492 |
210 | G>D | No |
ClinGen TOPMed |
|
|
rs765048709 CA3006344 |
212 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357644514 rs1250945301 |
213 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 215 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 215 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA100919548 rs1032656092 |
216 | G>R | No |
ClinGen Ensembl |
|
|
CA3006346 rs757995107 |
217 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777432412 CA3006347 |
217 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357644541 rs1277868665 |
217 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 218 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285799664 CA357644560 |
220 | C>R | No |
ClinGen gnomAD |
|
|
CA357644600 rs1259126753 |
226 | G>D | No |
ClinGen gnomAD |
|
|
rs1309415905 CA357644608 |
227 | H>R | No |
ClinGen TOPMed gnomAD |
|
| rs762740352 | 230 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1202775843 CA357644626 |
230 | S>G | No |
ClinGen gnomAD |
|
|
rs1476295529 CA357644640 |
230 | S>I | No |
ClinGen gnomAD |
|
|
CA357644639 rs1476295529 |
230 | S>N | No |
ClinGen gnomAD |
|
|
rs201120262 CA3006366 |
232 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357644656 rs1178991344 |
232 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3006367 rs533895018 |
233 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1164864917 CA357644668 |
234 | P>S | No |
ClinGen gnomAD |
|
|
rs1424570477 CA357644674 |
235 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3006368 rs756900772 |
235 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 238 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs981571500 CA100920315 |
238 | E>K | No |
ClinGen Ensembl |
|
|
rs780733759 CA3006369 |
240 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA3006371 rs755474468 |
242 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs779569050 CA3006372 |
243 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs748469924 CA3006373 |
244 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA357644732 rs1312999865 |
244 | K>R | No |
ClinGen gnomAD |
|
|
rs1358882478 CA357644738 |
245 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA357644747 rs1560598047 |
246 | E>G | No |
ClinGen Ensembl |
|
|
rs1221615535 CA357644753 |
247 | F>L | No |
ClinGen gnomAD |
|
|
rs1284820987 CA357644761 |
248 | V>F | No |
ClinGen gnomAD |
|
|
rs778345432 CA357644765 |
249 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778345432 CA3006375 |
249 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776721345 CA3006378 |
254 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1423209386 CA357644804 |
255 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs745964893 CA3006380 |
257 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375807965 CA3006381 |
259 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3006382 rs758301850 |
260 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357644854 rs1196079521 |
261 | D>G | No |
ClinGen gnomAD |
|
|
rs1274476829 CA357644858 |
262 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA357644880 rs1435615779 |
265 | F>L | No |
ClinGen gnomAD |
|
|
rs1005162503 CA100920723 |
266 | T>A | No |
ClinGen Ensembl |
|
|
rs1578039744 CA357644898 |
268 | G>D | No |
ClinGen Ensembl |
|
|
CA3006412 rs764726505 |
268 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs751883222 CA3006413 |
269 | A>G | No |
ClinGen ExAC |
|
|
rs1197631312 CA357644914 |
271 | K>R | No |
ClinGen gnomAD |
|
|
rs1429112237 CA357644922 |
272 | H>P | No |
ClinGen gnomAD |
|
|
CA357644923 rs1429112237 |
272 | H>R | No |
ClinGen gnomAD |
|
|
rs1450016005 CA357644935 |
274 | Q>* | No |
ClinGen TOPMed |
|
|
CA357644953 rs1169918230 |
277 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3006415 rs374092530 TCGA novel |
277 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD |
|
rs746073656 CA3006416 |
279 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746073656 CA357644969 |
279 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780061270 CA3006418 |
282 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs958782733 CA100920801 |
284 | L>Q | No |
ClinGen Ensembl |
|
|
CA3006419 rs761400309 |
285 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3006420 rs749403305 |
286 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA357645035 rs1271536491 |
289 | V>M | No |
ClinGen gnomAD |
|
|
CA3006423 rs376012411 |
290 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3006422 rs778731078 |
290 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs771762470 CA3006424 |
292 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1490983122 CA357645060 |
293 | V>A | No |
ClinGen gnomAD |
|
|
CA3006425 rs773104002 |
294 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773104002 CA357645066 |
294 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006426 rs764584509 |
295 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA357645082 rs1429522267 |
297 | V>M | No |
ClinGen gnomAD |
|
|
CA3006428 rs374198150 |
299 | Q>E | No |
ClinGen 1000Genomes |
|
|
rs1237408995 CA357645106 |
300 | I>T | No |
ClinGen TOPMed |
|
|
CA3006431 rs17014143 |
301 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000961557 VAR_057123 CA3006430 rs17014143 |
301 | A>T | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA357645112 rs1484371625 |
302 | C>S | No |
ClinGen TOPMed |
|
|
CA3006433 RCV000972107 rs78613619 |
302 | C>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 303 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759319386 CA3006451 |
305 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357645341 rs1433875324 |
307 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA357645339 rs1433875324 |
307 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA357645355 rs1166708355 |
308 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs547568005 CA3006452 |
309 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357645368 rs1239411688 |
309 | A>S | No |
ClinGen Ensembl |
|
|
CA357645396 rs1239962664 |
311 | V>A | No |
ClinGen TOPMed |
|
|
rs1449769851 CA357645389 |
311 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 313 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 315 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775105692 CA3006453 |
316 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 316 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3006454 rs762177633 |
317 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1025687876 CA100926412 |
319 | S>C | No |
ClinGen Ensembl |
|
|
rs1259315495 CA357645487 |
319 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3006455 rs768101045 |
324 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204510634 CA357645565 |
325 | D>G | No |
ClinGen gnomAD |
|
|
rs1245147824 CA357645595 |
327 | Q>L | No |
ClinGen gnomAD |
|
|
rs906207184 CA100926436 |
329 | G>E | No |
ClinGen TOPMed |
|
|
CA357645642 rs1415176915 |
331 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1362134804 CA357645646 |
332 | G>R | No |
ClinGen TOPMed |
|
|
CA357645660 rs1251423529 |
333 | T>A | No |
ClinGen gnomAD |
|
|
CA357645664 rs1336181014 |
333 | T>I | No |
ClinGen gnomAD |
|
|
CA3006458 rs147757779 |
334 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3006459 rs754059043 |
334 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147757779 CA357645672 |
334 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357645709 rs1409451159 |
336 | Q>H | No |
ClinGen gnomAD |
|
|
CA357645720 rs1298028072 |
338 | M>V | No |
ClinGen gnomAD |
|
|
rs755237879 CA3006460 |
339 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867414801 CA100926470 |
339 | P>S | No |
ClinGen Ensembl |
|
|
CA357645752 rs1192880288 |
340 | L>P | No |
ClinGen TOPMed |
|
|
rs370062005 CA3006463 |
343 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3006462 rs752839723 |
343 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs577596736 CA100926496 |
343 | K>R | No |
ClinGen Ensembl |
|
|
rs1023450998 CA100926507 |
344 | V>L | No |
ClinGen gnomAD |
|
|
CA3006464 rs777767660 |
345 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA357645821 rs1287085992 |
346 | S>L | No |
ClinGen TOPMed |
|
|
rs1560600491 CA357645830 |
347 | S>I | No |
ClinGen Ensembl |
|
|
rs201521313 CA3006466 |
351 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200721883 CA3006468 |
352 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3006469 rs144890220 |
353 | E>K | No |
ClinGen ESP ExAC |
|
|
rs1302156672 CA357645984 |
354 | S>G | No |
ClinGen TOPMed |
|
|
CA3006488 rs781112889 |
354 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA357645995 rs1344077278 |
355 | H>R | No |
ClinGen gnomAD |
|
|
rs745689176 CA3006489 |
356 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA100927424 rs866352228 |
357 | S>L | No |
ClinGen Ensembl |
|
|
CA357646018 rs1402815059 |
359 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 360 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571528132 CA100927437 |
360 | E>Q | No |
ClinGen Ensembl |
|
|
rs1560601150 CA357646034 |
361 | L>S | No |
ClinGen Ensembl |
|
|
CA100927441 rs771863718 |
362 | I>K | No |
ClinGen Ensembl |
|
|
rs755655857 CA3006490 |
362 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006491 rs779772070 |
362 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1202453363 CA357646044 |
363 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3006493 rs768211170 |
370 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA357646095 rs1174325473 |
370 | S>N | No |
ClinGen TOPMed |
|
|
CA3006494 rs151305721 |
372 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA100927503 rs1002977783 |
374 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA357646122 rs1476939808 |
374 | W>* | No |
ClinGen gnomAD |
|
|
rs1419725757 CA357646128 |
375 | I>V | No |
ClinGen gnomAD |
|
|
rs1429936025 CA357646156 |
378 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA357646173 rs1405293747 |
379 | N>S | No |
ClinGen gnomAD |
|
|
CA357646188 rs1321593232 |
381 | Y>C | No |
ClinGen TOPMed |
|
|
CA357646221 rs1578045417 |
386 | R>K | No |
ClinGen Ensembl |
|
|
rs140526163 CA3006512 |
387 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 388 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3006513 rs114749403 |
388 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357646249 rs1354165500 |
391 | L>M | No |
ClinGen gnomAD |
|
|
CA3006517 rs775758969 |
392 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs150431696 CA3006516 |
392 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357646260 rs1206625081 |
393 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 394 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774505847 CA3006520 |
397 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006521 rs761996316 |
401 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1403386002 CA357646329 |
403 | V>M | No |
ClinGen TOPMed |
|
|
rs750369071 CA357646358 |
407 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750369071 CA3006523 |
407 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145240865 CA3006522 |
407 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3006525 rs766171077 |
408 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1034325345 CA100928139 |
409 | Q>H | No |
ClinGen Ensembl |
|
|
rs753593835 CA3006526 |
409 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3006527 rs144962395 |
410 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs191624175 CA100928152 |
413 | R>W | No |
ClinGen 1000Genomes |
|
|
rs751055364 CA3006551 |
417 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs958886435 CA100929053 |
417 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3006552 rs141870419 |
418 | I>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3006553 rs780439103 |
419 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780439103 CA357646452 |
419 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357646470 rs1490932828 |
422 | P>T | No |
ClinGen gnomAD |
|
|
CA100929124 rs375133286 |
423 | A>T | No |
ClinGen ESP gnomAD |
|
|
rs111492791 CA100929129 |
426 | T>A | No |
ClinGen Ensembl |
|
|
CA357646496 rs1169722148 |
426 | T>N | No |
ClinGen gnomAD |
|
|
CA3006555 rs143589817 |
427 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1280836090 CA357646509 |
428 | S>I | No |
ClinGen TOPMed |
|
|
CA3006556 rs779458539 |
430 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1307384318 CA357646537 |
432 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 437 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3006574 rs767121181 |
437 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357646590 rs1362617340 |
438 | M>V | No |
ClinGen gnomAD |
|
|
CA3006576 rs755587880 |
440 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3006575 rs148035671 |
440 | P>S | No |
ClinGen ESP ExAC |
|
|
rs770204911 CA3006577 |
442 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 442 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3006579 rs758575801 |
443 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs565194226 CA3006580 |
444 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs770914155 CA3006582 |
448 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA357646667 rs1184211754 |
449 | R>K | No |
ClinGen gnomAD |
|
|
CA357646680 rs1258431532 |
451 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1258431532 CA357646682 |
451 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs372579236 CA100930316 |
452 | F>L | No |
ClinGen ESP |
|
|
CA3006584 rs745785472 |
452 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006585 rs377086844 |
453 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1560603138 CA357646730 |
458 | K>E | No |
ClinGen Ensembl |
|
|
CA357646732 rs1454080831 |
458 | K>T | No |
ClinGen gnomAD |
|
|
CA357646740 rs1161124083 |
459 | D>G | No |
ClinGen gnomAD |
|
|
rs377595074 CA3006588 |
459 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
| TCGA novel | 460 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357646781 rs1342222484 |
464 | M>I | No |
ClinGen TOPMed |
|
|
rs150546747 CA3006589 |
464 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357646810 rs1578050471 |
467 | T>P | No |
ClinGen Ensembl |
|
|
rs774249953 CA3006611 |
468 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA357646818 rs761320899 |
468 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs761320899 CA3006612 |
468 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA357646823 rs771785396 |
469 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357646822 rs771785396 |
469 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006613 rs771785396 |
469 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412298475 CA357646829 |
470 | K>Q | No |
ClinGen gnomAD |
|
|
CA357646831 rs1286833248 |
470 | K>R | No |
ClinGen gnomAD |
|
|
CA3006616 rs753618416 |
474 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 475 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310681148 CA357646865 |
475 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs753255642 CA3006617 |
478 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930433890 CA100932511 |
481 | S>F | No |
ClinGen gnomAD |
|
|
CA100932523 rs1047477440 |
482 | P>S | No |
ClinGen Ensembl |
|
|
CA357646915 rs1249946886 |
483 | P>S | No |
ClinGen gnomAD |
|
|
rs757382529 CA3006621 |
484 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA100932535 rs1036686429 |
485 | E>V | No |
ClinGen TOPMed |
|
|
rs750445969 CA3006623 |
487 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357646941 rs750445969 |
487 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174739904 CA357646972 |
491 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 494 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756180608 CA357647000 |
495 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284132122 CA357646995 |
495 | E>Q | No |
ClinGen TOPMed |
|
|
rs1346075219 CA357647003 |
496 | C>R | No |
ClinGen TOPMed |
|
|
CA100932548 rs200538566 |
496 | C>Y | No |
ClinGen gnomAD |
|
|
CA357647013 rs780147043 |
497 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780147043 CA3006626 |
497 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs7699006 CA3006627 |
498 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1365756062 CA357647028 |
499 | M>I | No |
ClinGen gnomAD |
|
|
CA357647026 rs1295658547 |
499 | M>T | No |
ClinGen gnomAD |
|
|
rs147348706 CA3006629 |
500 | H>Q | No |
ClinGen ESP ExAC |
|
|
CA3006628 rs768659089 |
500 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs747977650 CA100932591 |
501 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046616595 CA100932597 |
501 | I>N | No |
ClinGen Ensembl |
|
|
CA3006630 rs747977650 |
501 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357647045 rs1344462330 |
502 | S>C | No |
ClinGen gnomAD |
|
|
CA3006631 rs548001263 |
503 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357647051 rs1272322767 |
503 | N>S | No |
ClinGen gnomAD |
|
|
CA100932602 rs1008360752 |
504 | N>H | No |
ClinGen TOPMed |
|
|
rs760474767 CA3006633 |
505 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA3006632 rs201276494 |
505 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1161446046 CA357647072 |
506 | E>G | No |
ClinGen gnomAD |
|
|
rs1019807694 CA100932607 |
508 | L>F | No |
ClinGen TOPMed |
|
|
CA3006634 rs770538756 |
508 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3006635 CA100932636 rs199767115 |
509 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1402582182 CA357647119 |
514 | K>E | No |
ClinGen TOPMed |
|
|
CA357647123 rs1372265687 |
514 | K>R | No |
ClinGen gnomAD |
|
|
rs1390028615 CA357647147 |
518 | K>E | No |
ClinGen gnomAD |
|
|
CA3006640 rs530839547 |
519 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1468074680 CA357647163 |
520 | S>G | No |
ClinGen TOPMed |
|
|
CA100932715 rs914576550 |
521 | D>N | No |
ClinGen TOPMed |
|
|
CA3006642 rs756376700 |
522 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA100932718 rs778731969 |
522 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778731969 CA3006641 |
522 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766394501 CA3006643 |
524 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3006645 rs754802437 |
526 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3006644 rs753979561 |
526 | V>I | No |
ClinGen ExAC gnomAD |
|
| rs1471720730 | 528 | E>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403219381 CA357647238 |
530 | Y>C | No |
ClinGen gnomAD |
|
|
CA357647235 rs1158755139 |
530 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 531 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3006678 rs771253481 |
531 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs776904053 CA3006679 |
532 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA3006680 rs759721077 |
533 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 536 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357647279 rs1352145004 |
536 | E>D | No |
ClinGen gnomAD |
|
|
rs1308390517 CA357647273 |
536 | E>K | No |
ClinGen gnomAD |
|
|
CA357647284 rs1226381470 |
537 | S>Y | No |
ClinGen gnomAD |
|
|
rs1278545284 CA357647288 |
538 | T>A | No |
ClinGen gnomAD |
|
|
rs1049445936 CA100935278 |
538 | T>I | No |
ClinGen Ensembl |
|
|
CA357647299 rs1345294280 |
539 | F>L | No |
ClinGen gnomAD |
|
|
rs1276464192 CA357647312 |
541 | K>R | No |
ClinGen TOPMed |
|
|
rs1578054111 CA357647320 |
542 | L>R | No |
ClinGen Ensembl |
|
|
rs765341196 CA3006681 |
544 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs752848714 CA3006682 |
546 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357647346 rs1341291962 |
546 | F>S | No |
ClinGen TOPMed |
|
|
rs1578054135 CA357647358 |
548 | T>P | No |
ClinGen Ensembl |
|
|
rs367799604 CA3006684 |
550 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA100935287 rs367799604 |
550 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757106083 CA3006686 |
552 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA3006687 rs780917266 |
552 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006689 rs755743691 |
555 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA3006688 rs750066872 |
555 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA357647414 rs1424610363 |
556 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs183058729 CA100935343 |
558 | D>G | No |
ClinGen 1000Genomes |
|
|
CA3006690 rs779575284 |
558 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1372357506 CA357647447 |
561 | A>T | No |
ClinGen gnomAD |
|
|
rs1407708008 CA357647453 |
562 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA357647461 rs1327940053 |
563 | E>K | No |
ClinGen gnomAD |
|
|
rs1438238945 CA357647481 |
565 | G>D | No |
ClinGen gnomAD |
|
|
CA357647487 rs1429513579 |
566 | N>S | No |
ClinGen TOPMed |
|
|
rs1272549050 CA357647511 |
570 | L>F | No |
ClinGen gnomAD |
|
|
rs1336838966 CA357647517 |
571 | L>I | No |
ClinGen gnomAD |
|
|
rs1228536940 CA357647533 |
573 | M>K | No |
ClinGen gnomAD |
|
| rs1268567133 | 579 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3006717 rs145487863 |
585 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA100939046 rs1030350401 |
588 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA357647654 rs1282852824 |
589 | E>K | No |
ClinGen TOPMed |
|
|
rs1314007568 CA357647684 |
592 | F>L | No |
ClinGen gnomAD |
|
|
rs1381196121 CA357647681 |
592 | F>S | No |
ClinGen gnomAD |
|
|
CA357647687 rs1342798911 |
593 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA357647686 rs1342798911 |
593 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs770001081 CA3006720 |
594 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs369280809 CA3006722 |
596 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200245264 CA3006725 |
600 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3006726 rs767360987 |
600 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1256699530 | 604 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1412801084 CA357647764 |
604 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 604 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444068740 CA357647770 |
605 | V>I | No |
ClinGen gnomAD |
|
|
CA357647782 rs1416961536 |
607 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA357647784 rs1416961536 |
607 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3006728 rs760371054 |
608 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs190417497 CA3006729 |
609 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753455544 CA357647806 |
610 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 617 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs369956338 | 618 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs957419493 CA100939573 |
618 | D>G | No |
ClinGen Ensembl |
|
|
CA3006755 rs562419662 |
619 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756735015 CA3006756 |
624 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3006757 rs376039327 |
625 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006758 rs148569726 |
627 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3006759 rs755192370 |
628 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs1578059725 CA357647941 |
628 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 629 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 633 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 637 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269059233 CA357648020 |
638 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1269059233 CA357648018 |
638 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs573916867 CA3006761 |
639 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357648030 rs772009697 |
640 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772009697 CA3006762 |
640 | S>L | Variant assessed as Somatic; 9.246e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772009697 CA100939609 |
640 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458766416 CA357648068 |
646 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA357648077 rs1295459091 |
647 | T>I | No |
ClinGen gnomAD |
|
|
CA357648081 rs1038007909 |
648 | D>A | No |
ClinGen Ensembl |
|
|
CA100939683 rs1038007909 |
648 | D>V | No |
ClinGen Ensembl |
|
|
rs770889224 CA3006766 |
649 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357648121 rs1448575521 |
654 | E>V | No |
ClinGen TOPMed |
|
|
rs777677298 CA3006784 |
655 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374654136 CA357648141 |
655 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3006785 rs747098849 |
656 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357648156 rs1332200110 |
657 | K>R | No |
ClinGen gnomAD |
|
|
rs200086017 CA3006788 |
658 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781098163 CA3006787 |
658 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241980327 CA357648176 |
660 | A>P | No |
ClinGen gnomAD |
|
|
rs1483904467 CA357648179 |
660 | A>V | No |
ClinGen gnomAD |
|
|
rs769444549 CA357648181 |
661 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs769444549 CA3006790 |
661 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs762465610 CA3006792 |
662 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA357648192 rs768358426 |
663 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA357648197 rs1414493496 |
663 | R>S | No |
ClinGen gnomAD |
|
|
rs1398963003 CA357648204 |
664 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs906375606 CA100940910 |
667 | I>T | No |
ClinGen Ensembl |
|
|
rs1344527624 CA357648218 |
667 | I>V | No |
ClinGen gnomAD |
|
|
rs761393280 CA3006795 |
668 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA357648233 rs1427969696 |
669 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3006797 rs754363045 |
669 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs760166040 CA3006798 |
671 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006799 rs777948130 |
672 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1275808440 CA357648264 |
674 | E>K | No |
ClinGen TOPMed |
|
|
CA3006802 rs376568622 |
676 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376568622 CA3006803 |
676 | A>T | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA357648281 rs1311896711 |
676 | A>V | No |
ClinGen TOPMed |
|
|
CA357648297 rs1578061434 |
678 | R>S | No |
ClinGen Ensembl |
|
|
rs1002046659 CA100941015 |
679 | P>S | No |
ClinGen Ensembl |
|
|
CA3006804 rs142920571 |
680 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142920571 CA3006805 |
680 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3006808 rs779674897 |
682 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357648318 rs779674897 |
682 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485519434 CA357648325 |
683 | L>P | No |
ClinGen gnomAD |
|
|
CA3006809 rs749119503 |
683 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768391922 CA3006810 |
684 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA357648342 rs1468855758 |
686 | R>S | No |
ClinGen gnomAD |
|
|
CA357648353 rs1158052647 |
688 | N>H | No |
ClinGen gnomAD |
|
|
rs1416272430 CA357648380 |
691 | I>M | No |
ClinGen gnomAD |
|
|
CA357648415 rs1413870435 |
696 | N>I | No |
ClinGen gnomAD |
|
|
CA100941078 rs112890151 |
699 | S>N | No |
ClinGen Ensembl |
|
|
rs1221707666 CA357648450 |
701 | F>S | No |
ClinGen gnomAD |
|
|
CA357648468 rs1185760025 |
703 | N>K | No |
ClinGen TOPMed |
|
|
rs201021472 CA100941095 |
703 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA357648469 rs1337152328 |
704 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 706 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs953215644 CA100941120 |
710 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA357648525 rs1235877199 |
711 | W>* | No |
ClinGen gnomAD |
|
|
CA553086226 rs1367641685 |
711 | W>CFLL* | No |
ClinGen gnomAD |
|
|
rs919275645 CA100943580 |
712 | V>F | No |
ClinGen Ensembl |
|
|
rs950776860 CA100943582 |
715 | S>N | No |
ClinGen Ensembl |
|
|
CA3006831 rs370002822 |
716 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370002822 CA3006830 |
716 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1223473257 CA357648567 |
716 | G>R | No |
ClinGen gnomAD |
|
|
CA357648573 rs1241291622 |
717 | E>* | No |
ClinGen TOPMed |
|
|
rs772779620 CA3006834 |
719 | G>E | No |
ClinGen ExAC TOPMed |
|
|
CA3006833 rs771879750 |
719 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3006835 rs746545085 |
720 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs770409063 CA3006836 |
722 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3006839 rs148027798 |
723 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357648621 rs1362088397 |
725 | V>I | No |
ClinGen TOPMed |
|
|
rs1470047839 CA357648631 |
726 | K>R | No |
ClinGen gnomAD |
|
|
CA357648637 rs1245958771 |
727 | K>* | No |
ClinGen TOPMed |
|
|
rs1211887748 CA357648660 |
730 | F>L | No |
ClinGen gnomAD |
|
|
rs774721012 CA3006840 |
731 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA799649509 rs1309914564 |
732 | C>* | No |
ClinGen TOPMed |
|
|
CA100943671 rs948585271 |
732 | C>G | No |
ClinGen Ensembl |
|
|
rs1374742070 CA357648692 |
734 | F>L | No |
ClinGen gnomAD |
|
|
rs767733410 CA3006842 |
735 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1167108372 CA357648725 |
739 | Q>* | No |
ClinGen gnomAD |
|
|
rs189534383 CA3006844 |
740 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146794302 CA3006846 |
741 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357648736 rs146794302 |
741 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs935935112 CA100943710 |
741 | E>V | No |
ClinGen gnomAD |
|
|
rs1303550286 CA357648746 |
742 | Y>C | No |
ClinGen TOPMed |
|
|
CA3006847 rs754890021 |
746 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs778807481 CA3006848 |
746 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357648774 rs754890021 |
746 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 748 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 748 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3006849 rs150378907 |
749 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA357648801 rs138084118 |
750 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3006850 rs138084118 |
750 | G>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA100943754 rs1053165376 |
751 | A>T | No |
ClinGen Ensembl |
|
|
rs149523231 CA3006851 |
752 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs557500751 CA3006853 |
753 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357648816 rs1465368017 |
753 | C>R | No |
ClinGen gnomAD |
|
|
rs1263674222 CA357648828 |
754 | M>R | No |
ClinGen gnomAD |
|
|
rs780616858 CA3006854 |
759 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776713187 CA3006887 |
760 | P>L | No |
ClinGen ExAC |
|
|
CA357648880 rs1312726484 |
760 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 762 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357648903 rs1367401249 |
763 | E>G | No |
ClinGen TOPMed |
|
|
rs759673086 CA3006888 |
763 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs143121208 CA3006889 |
764 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357648924 rs1335207198 |
766 | R>* | No |
ClinGen gnomAD |
|
|
rs1234083959 CA357648925 |
766 | R>K | No |
ClinGen gnomAD |
|
|
rs201548154 CA3006890 |
768 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1350045228 CA357648960 |
770 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 771 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA100944550 rs796081421 |
772 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 773 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279400377 CA357648999 |
777 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA357649001 rs1480735839 |
777 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA357648998 rs1279400377 |
777 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1480735839 CA357649000 |
777 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs200792950 CA3006892 |
780 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3006895 rs767091304 |
782 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200442831 CA3006894 |
782 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3006893 rs751343604 |
782 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 784 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773951218 CA3006897 |
787 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357649068 rs1560613033 |
788 | F>L | No |
ClinGen Ensembl |
|
|
CA3006898 rs779586956 |
789 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA357649103 rs142762471 |
793 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396058550 CA357649106 |
794 | K>E | No |
ClinGen gnomAD |
|
|
CA357649142 rs747345070 |
799 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3006902 rs747345070 |
799 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA357649149 rs1305793096 |
800 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 803 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287436635 CA357649209 |
808 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA357649219 rs1302617171 |
809 | L>P | No |
ClinGen gnomAD |
|
|
rs746135371 CA3006905 |
812 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs769975868 CA3006906 |
812 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA357635176 rs1475755924 |
815 | K>N | No |
ClinGen gnomAD |
|
|
rs368008464 CA3006926 |
816 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs936165533 CA100912303 |
816 | N>S | No |
ClinGen TOPMed |
|
|
rs1167303089 CA357635184 |
816 | N>Y | No |
ClinGen gnomAD |
|
|
CA100912315 rs990783610 |
817 | L>V | No |
ClinGen TOPMed |
|
|
rs1229022374 CA357635219 |
818 | Q>R | No |
ClinGen TOPMed |
|
|
rs371481479 CA3006928 |
820 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3006930 rs201957323 |
824 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs189314155 CA3006929 |
824 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3006931 rs773018703 |
825 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA357635341 rs1339557442 |
826 | D>G | No |
ClinGen gnomAD |
|
|
rs1378050511 CA357635331 |
826 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 829 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1440639823 CA357635422 |
831 | V>I | No |
ClinGen TOPMed |
|
|
CA100912380 rs369910290 |
832 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1294686375 CA357635448 |
833 | Y>C | No |
ClinGen gnomAD |
|
|
CA357635468 rs1232146058 |
835 | H>N | No |
ClinGen gnomAD |
|
|
CA357635475 rs1264498491 |
835 | H>R | No |
ClinGen gnomAD |
|
|
CA3006934 rs753545690 |
837 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1270882021 CA357635536 |
838 | V>M | No |
ClinGen TOPMed |
|
|
CA357635555 rs1408438810 |
839 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA357635633 rs1176697464 |
844 | D>G | No |
ClinGen gnomAD |
|
|
CA3006954 rs200562632 |
844 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200562632 CA357635626 |
844 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006956 rs752283704 |
850 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357635721 rs1578069274 |
851 | G>R | No |
ClinGen Ensembl |
|
|
CA3006957 rs762160999 |
854 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560615689 CA357635806 |
857 | N>D | No |
ClinGen Ensembl |
|
|
rs1553924160 CA357635832 |
858 | Q>H | No |
ClinGen Ensembl |
|
|
rs1467688485 CA357635872 |
861 | K>R | No |
ClinGen TOPMed |
|
|
CA3006970 rs746986539 |
862 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1330058909 CA357636232 |
863 | D>N | No |
ClinGen gnomAD |
|
|
CA3006971 rs370986699 |
864 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866159468 CA100914896 |
864 | Y>D | No |
ClinGen Ensembl |
|
|
CA3006972 rs776434342 |
865 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA100914916 rs137915296 |
866 | S>C | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 866 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357636281 CA100914917 rs1056326183 |
867 | K>N | No |
ClinGen TOPMed |
|
|
CA357636302 rs1308332127 |
868 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1272346987 CA357636339 |
870 | N>S | No |
ClinGen gnomAD |
|
|
rs769492725 CA3006975 |
872 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs529055995 CA3006976 |
874 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357636421 rs1560617119 |
875 | D>V | No |
ClinGen Ensembl |
|
|
rs763767204 CA3006978 |
877 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773827213 CA3006979 |
879 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754231341 CA3006982 |
885 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375430185 CA3006983 |
885 | R>Q | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 887 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204829253 CA357636619 |
887 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 889 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1418143952 CA357636663 |
890 | K>Q | No |
ClinGen gnomAD |
|
|
CA357636667 rs1462499482 |
890 | K>T | No |
ClinGen gnomAD |
|
|
CA3006987 rs569038185 |
891 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357636682 rs1260786834 |
891 | M>T | No |
ClinGen gnomAD |
|
|
rs758440949 CA3006986 |
891 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357636710 rs201540163 |
892 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3006989 rs551404590 |
893 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3006991 rs555316644 |
894 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207210112 CA357636730 |
894 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs769540253 CA3006992 |
895 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs747308300 CA3006993 |
896 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3006995 rs748991107 |
898 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA357636848 rs1446898375 |
899 | L>F | No |
ClinGen gnomAD |
|
|
rs1355511532 CA357636830 |
899 | L>I | No |
ClinGen gnomAD |
|
|
CA357636892 rs1205609970 |
901 | H>Q | No |
ClinGen gnomAD |
|
|
rs141622783 CA3006997 |
903 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1192676874 CA357636961 |
906 | K>E | No |
ClinGen gnomAD |
|
|
rs200318350 CA3006998 |
907 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200318350 CA357636985 |
907 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3006999 rs767002391 |
912 | N>K | No |
ClinGen ExAC |
|
|
rs199762669 CA100915042 |
913 | T>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1405952068 CA357637099 |
913 | T>P | No |
ClinGen TOPMed |
|
|
CA357637155 rs777062367 |
916 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3007000 rs777062367 |
916 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1160738551 CA357637191 |
917 | W>* | No |
ClinGen gnomAD |
|
|
CA3007001 rs759939062 |
917 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1383440820 CA357637229 |
919 | T>A | No |
ClinGen gnomAD |
|
|
rs954280659 CA100915081 |
920 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1268334717 CA357637348 |
923 | N>D | No |
ClinGen TOPMed |
|
|
rs1393213839 CA357637371 |
925 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3007020 rs747644216 |
925 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3007021 CA3007022 rs771547733 |
929 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367960917 CA100915299 |
929 | G>V | No |
ClinGen ESP |
|
|
CA3007023 rs150917306 |
930 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA100915308 rs759639763 |
932 | S>G | No |
ClinGen TOPMed |
|
|
rs775750496 CA3007025 |
933 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA357637428 rs1280832784 |
934 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1480787241 CA357637439 |
935 | P>T | No |
ClinGen gnomAD |
|
|
rs763096715 CA3007027 |
937 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357637504 rs1456953443 |
939 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3007029 rs376489828 |
942 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767538717 CA3007031 |
948 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 948 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357637670 rs1373846500 |
949 | L>P | No |
ClinGen gnomAD |
|
|
CA357637674 rs1373846500 |
949 | L>Q | No |
ClinGen gnomAD |
|
|
CA357637656 rs1173459088 |
949 | L>V | No |
ClinGen TOPMed |
|
|
rs1329363616 CA357637677 |
950 | E>K | No |
ClinGen gnomAD |
|
|
rs1329363616 CA357637679 |
950 | E>Q | No |
ClinGen gnomAD |
|
|
rs1399590720 CA357637698 |
951 | E>K | No |
ClinGen gnomAD |
|
|
rs1441751072 CA357637775 |
952 | K>R | No |
ClinGen gnomAD |
|
|
rs750355148 CA3007032 |
955 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1251634015 CA357637847 |
956 | L>F | No |
ClinGen TOPMed |
|
|
CA357638511 rs1233352770 |
962 | T>A | No |
ClinGen gnomAD |
|
|
rs767587592 CA357638558 |
966 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs767587592 CA3007048 |
966 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs750469669 CA3007049 |
967 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3007050 rs760600916 |
968 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357638585 rs1487014663 |
968 | K>R | No |
ClinGen gnomAD |
|
|
CA3007051 rs367588822 |
969 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3007053 rs754788369 |
973 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs371466879 CA3007052 |
973 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs778899694 CA3007054 |
976 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA357638664 rs1411664508 |
978 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA357638663 rs1411664508 |
978 | C>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 980 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357638682 rs1404859336 |
981 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 982 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3007055 rs752346083 |
983 | W>* | No |
ClinGen ExAC |
|
|
rs1163913259 CA357638698 |
983 | W>G | No |
ClinGen gnomAD |
|
|
CA357638709 rs758016475 |
984 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3007056 rs758016475 |
984 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777271920 CA3007057 |
987 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357638739 rs1348337779 |
988 | P>L | No |
ClinGen TOPMed |
|
|
CA3007059 rs200710850 |
989 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357638751 rs1285626367 |
990 | R>S | No |
ClinGen gnomAD |
|
|
rs781393962 CA3007060 |
991 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs749837998 CA3007061 |
991 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs994826017 CA100916028 |
993 | T>A | No |
ClinGen Ensembl |
|
|
rs774723010 CA357638787 |
996 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3007063 rs774723010 |
996 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748331684 CA3007064 |
1002 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486219186 CA357638842 |
1004 | S>Y | No |
ClinGen gnomAD |
|
|
CA3007065 rs574099995 |
1005 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1399294957 CA357638854 |
1006 | M>I | No |
ClinGen TOPMed |
|
|
CA3007067 rs760663348 |
1006 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773536254 CA3007066 |
1006 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs776688113 CA357638860 |
1007 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3007069 rs776688113 |
1007 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199516439 CA3007068 |
1007 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357638868 rs1156580578 |
1008 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3007072 rs752546199 |
1012 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs369926460 CA3007074 |
1013 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751293985 CA3007075 |
1015 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA357638928 rs1309196843 |
1017 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1348973211 CA357638934 |
1018 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA100916107 rs201315674 |
1018 | N>S | No |
ClinGen 1000Genomes |
|
|
CA357638957 rs1276768615 |
1021 | R>S | No |
ClinGen gnomAD |
|
|
rs749748925 CA3007079 |
1023 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs755513470 CA3007080 |
1024 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9UII4
6 regional properties for Q9UII4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Regulator of chromosome condensation, RCC1 | 140 - 153 | IPR000408-1 |
| repeat | Regulator of chromosome condensation, RCC1 | 157 - 209 | IPR000408-2 |
| repeat | Regulator of chromosome condensation, RCC1 | 209 - 264 | IPR000408-3 |
| repeat | Regulator of chromosome condensation, RCC1 | 261 - 313 | IPR000408-4 |
| repeat | Regulator of chromosome condensation, RCC1 | 315 - 377 | IPR000408-5 |
| domain | HECT domain | 681 - 1024 | IPR000569 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| cyclin binding | Binding to cyclins, proteins whose levels in a cell varies markedly during the cell cycle, rising steadily until mitosis, then falling abruptly to zero. As cyclins reach a threshold level, they are thought to drive cells into G2 phase and thus to mitosis. |
| ISG15 transferase activity | Catalysis of the transfer of ISG15 from one protein to another via the reaction X-ISG15 + Y --> Y-ISG15 + X, where both X-ISG15 and Y-ISG15 are covalent linkages. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
| ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| ISG15-protein conjugation | The covalent addition to a protein of ISG15, a ubiquitin-like protein. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| regulation of cyclin-dependent protein serine/threonine kinase activity | Any process that modulates the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity. |
| regulation of defense response to virus | Any process that modulates the frequency, rate or extent of the antiviral response of a cell or organism. |
| ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MERRSRRKSR | RNGRSTAGKA | AATQPAKSPG | AQLWLFPSAA | GLHRALLRRV | EVTRQLCCSP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GRLAVLERGG | AGVQVHQLLA | GSGGARTPKC | IKLGKNMKIH | SVDQGAEHML | ILSSDGKPFE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YDNYSMKHLR | FESILQEKKI | IQITCGDYHS | LALSKGGELF | AWGQNLHGQL | GVGRKFPSTT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TPQIVEHLAG | VPLAQISAGE | AHSMALSMSG | NIYSWGKNEC | GQLGLGHTES | KDDPSLIEGL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DNQKVEFVAC | GGSHSALLTQ | DGLLFTFGAG | KHGQLGHNST | QNELRPCLVA | ELVGYRVTQI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ACGRWHTLAY | VSDLGKVFSF | GSGKDGQLGN | GGTRDQLMPL | PVKVSSSEEL | KLESHTSEKE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LIMIAGGNQS | ILLWIKKENS | YVNLKRTIPT | LNEGTVKRWI | ADVETKRWQS | TKREIQEIFS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SPACLTGSFL | RKRRTTEMMP | VYLDLNKARN | IFKELTQKDW | ITNMITTCLK | DNLLKRLPFH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SPPQEALEIF | FLLPECPMMH | ISNNWESLVV | PFAKVVCKMS | DQSSLVLEEY | WATLQESTFS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KLVQMFKTAV | ICQLDYWDES | AEENGNVQAL | LEMLKKLHRV | NQVKCQLPES | IFQVDELLHR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LNFFVEVCRR | YLWKMTVDAS | ENVQCCVIFS | HFPFIFNNLS | KIKLLHTDTL | LKIESKKHKA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YLRSAAIEEE | RESEFALRPT | FDLTVRRNHL | IEDVLNQLSQ | FENEDLRKEL | WVSFSGEIGY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DLGGVKKEFF | YCLFAEMIQP | EYGMFMYPEG | ASCMWFPVKP | KFEKKRYFFF | GVLCGLSLFN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| CNVANLPFPL | ALFKKLLDQM | PSLEDLKELS | PDLGKNLQTL | LDDEGDNFEE | VFYIHFNVHW |
| 850 | 860 | 870 | 880 | 890 | 900 |
| DRNDTNLIPN | GSSITVNQTN | KRDYVSKYIN | YIFNDSVKAV | YEEFRRGFYK | MCDEDIIKLF |
| 910 | 920 | 930 | 940 | 950 | 960 |
| HPEELKDVIV | GNTDYDWKTF | EKNARYEPGY | NSSHPTIVMF | WKAFHKLTLE | EKKKFLVFLT |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| GTDRLQMKDL | NNMKITFCCP | ESWNERDPIR | ALTCFSVLFL | PKYSTMETVE | EALQEAINNN |
| RGFG |