A2RUS2
PR
Gene name |
DENND3 (KIAA0870) |
Protein name |
DENN domain-containing protein 3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:22898 |
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
1 structures for A2RUS2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A2RUS2-F1 | Predicted | AlphaFoldDB |
889 variants for A2RUS2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs376429101 CA4896193 |
2 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA187297138 rs1055744293 |
2 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1474000067 CA372334476 |
3 | S>F | No |
ClinGen TOPMed |
|
|
rs1172101699 CA372334473 |
3 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 4 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372334483 rs1208064375 |
4 | L>W | No |
ClinGen gnomAD |
|
|
CA187297163 rs539016918 |
9 | E>G | No |
ClinGen gnomAD |
|
|
rs1200755542 CA372334546 |
13 | P>S | No |
ClinGen gnomAD |
|
|
CA187297181 rs1042513261 |
14 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA372334555 rs1431976948 |
14 | E>G | No |
ClinGen gnomAD |
|
|
rs307771 CA4896200 |
17 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1307093808 CA372334581 |
18 | G>S | No |
ClinGen gnomAD |
|
|
rs575423208 CA4896202 |
19 | L>P | No |
ClinGen 1000Genomes ExAC |
|
|
rs545870610 CA4896203 |
20 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 20 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372334605 rs1294103653 |
22 | P>R | No |
ClinGen TOPMed |
|
|
CA187297241 rs999610061 |
22 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA187297226 rs999610061 |
22 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs377303767 CA4896207 |
23 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1272814700 CA372334619 |
25 | A>T | No |
ClinGen gnomAD |
|
|
COSM1203346 CA4896208 rs201095031 |
25 | A>V | oesophagus large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1390686795 CA372334638 |
28 | P>T | No |
ClinGen TOPMed |
|
|
rs529124995 CA4896211 |
32 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745331274 CA4896213 |
33 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs544008138 COSM1313753 CA4896214 |
34 | P>L | urinary_tract Variant assessed as Somatic; 5.241e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA372334691 rs1234129674 |
36 | G>D | No |
ClinGen gnomAD |
|
|
CA372334688 rs533272355 |
36 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs533272355 CA187297312 |
36 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1589535920 CA372334695 |
37 | V>G | No |
ClinGen Ensembl |
|
|
rs144082723 RCV000900244 CA4896219 |
37 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1274104567 CA372334702 CA372334703 |
38 | D>E | No |
ClinGen TOPMed |
|
|
CA4896221 rs773617010 |
38 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760753199 CA4896222 |
39 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA372334710 rs1455891214 |
40 | L>V | No |
ClinGen gnomAD |
|
|
rs766511210 CA4896223 |
41 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1361774143 CA372334724 |
42 | L>R | No |
ClinGen gnomAD |
|
|
rs754045005 CA4896224 |
43 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372334756 rs1336331568 |
47 | F>C | No |
ClinGen TOPMed |
|
|
CA187297351 rs995177417 |
48 | P>L | No |
ClinGen TOPMed |
|
|
CA372334779 rs773703731 |
49 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs773703731 CA4896238 |
49 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1187787938 CA372334783 |
50 | G>C | No |
ClinGen gnomAD |
|
|
rs776732167 CA4896241 |
53 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372334806 rs1412452625 |
54 | A>T | No |
ClinGen gnomAD |
|
|
rs759639759 CA4896242 |
54 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 55 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372334819 COSM1313754 rs1156932234 |
56 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs200794849 CA4896243 |
57 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1415156840 CA372334834 |
58 | K>R | No |
ClinGen gnomAD |
|
|
CA4896244 rs752873515 |
59 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372334859 rs146488694 |
61 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1444660021 CA372334856 |
61 | C>Y | No |
ClinGen gnomAD |
|
|
CA4896247 rs750364990 |
62 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372334861 rs750364990 |
62 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372334868 rs1589540825 |
63 | H>Y | No |
ClinGen Ensembl |
|
|
CA372334887 rs1441341884 |
66 | V>L | No |
ClinGen TOPMed |
|
|
CA372334900 rs1200488437 |
68 | T>S | No |
ClinGen gnomAD |
|
|
CA4896250 rs753359074 COSM205401 |
69 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA372334905 rs753359074 |
69 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778571869 CA4896252 |
72 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747761831 CA4896253 |
74 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA372334945 rs1311594153 |
75 | T>A | No |
ClinGen TOPMed |
|
|
rs772467925 CA4896254 |
75 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA187298187 rs751324055 |
76 | Y>F | No |
ClinGen Ensembl |
|
|
rs1045924433 CA187298188 |
77 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs902931218 CA187298198 |
78 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs778046235 CA4896255 |
79 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778046235 CA372334966 |
79 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408251408 CA372334976 |
80 | A>V | No |
ClinGen TOPMed |
|
|
rs1171639626 CA372334977 |
81 | Q>* | No |
ClinGen TOPMed |
|
|
CA4896256 rs747481879 |
81 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 82 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4896258 rs777141456 |
84 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896257 rs771387655 |
84 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1425421437 CA372335013 |
86 | L>R | No |
ClinGen TOPMed |
|
|
CA4896259 rs759551756 |
87 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386697933 CA372335035 |
88 | D>Y | No |
ClinGen gnomAD |
|
|
rs1322185368 CA372335044 |
89 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs752371288 CA4896270 |
91 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372335062 rs1436579864 |
91 | C>Y | No |
ClinGen gnomAD |
|
|
rs1026878177 CA187300900 |
93 | Y>C | No |
ClinGen Ensembl |
|
|
rs1469560157 CA372335084 |
93 | Y>H | No |
ClinGen gnomAD |
|
|
CA187300913 rs1043552008 |
94 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA372335103 rs1377433745 |
94 | N>S | No |
ClinGen gnomAD |
|
|
CA4896273 rs747325721 |
95 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4896274 rs757631212 |
96 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs559179440 CA4896275 COSM3412785 |
97 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1189221355 CA372335157 |
98 | H>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 99 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA187300934 rs139597627 |
99 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4896278 COSM150554 rs139597627 |
99 | R>Q | stomach [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs769906731 COSM421716 CA4896277 |
99 | R>W | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA372335182 rs1369377902 |
101 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 102 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1387720665 COSM3778950 CA372335261 |
106 | V>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1569555217 CA372335290 |
108 | F>S | No |
ClinGen Ensembl |
|
|
CA372335300 rs1320628058 |
109 | A>T | No |
ClinGen gnomAD |
|
|
CA372335306 rs1326702589 |
109 | A>V | No |
ClinGen gnomAD |
|
|
rs776708643 CA4896284 |
110 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA372335341 rs1340719656 |
112 | V>M | No |
ClinGen gnomAD |
|
|
CA372335354 rs1229825734 |
113 | V>I | No |
ClinGen TOPMed |
|
|
CA4896287 rs764770727 |
115 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA372335402 COSM1455195 rs1589553030 |
116 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA372335415 rs1396902563 |
117 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs377080240 CA187300990 COSM228500 |
117 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA |
|
CA372335422 rs1370860060 |
118 | Y>S | No |
ClinGen TOPMed |
|
|
CA372335438 rs1278912437 |
119 | Y>C | No |
ClinGen TOPMed |
|
|
CA4896288 rs752105130 |
120 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA372335454 rs1185218445 |
120 | N>S | No |
ClinGen Ensembl |
|
|
rs757945146 CA4896289 |
122 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1439006832 CA372335531 |
126 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1312459744 CA372337117 |
130 | L>F | No |
ClinGen gnomAD |
|
|
CA4896318 rs370068043 |
132 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA187303457 rs879250767 |
133 | L>V | No |
ClinGen TOPMed |
|
|
CA4896321 rs745587771 |
135 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1239969028 CA372337189 |
137 | K>T | No |
ClinGen gnomAD |
|
|
CA4896322 rs769635872 |
139 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777532651 CA4896324 |
141 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs307761 CA372337233 |
143 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs307761 VAR_035053 CA4896326 |
143 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs307761 CA4896327 |
143 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 144 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372337249 rs1316347807 |
145 | I>M | No |
ClinGen gnomAD |
|
|
CA372337248 rs1290102244 |
145 | I>R | No |
ClinGen TOPMed |
|
|
rs572514677 CA4896328 |
145 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 146 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767108350 CA4896329 |
147 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA372337272 rs750103828 |
148 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760885420 CA4896332 |
149 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs760885420 CA4896331 |
149 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200601782 CA4896333 |
150 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755594245 CA4896334 |
155 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA372337315 rs1474296937 |
156 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA187303565 rs1032772801 |
157 | S>C | No |
ClinGen Ensembl |
|
|
rs957382858 CA187303576 |
157 | S>T | No |
ClinGen Ensembl |
|
|
COSM1659246 rs377145402 CA4896336 |
158 | P>L | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs778071426 CA4896338 |
162 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896368 rs770566857 |
166 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs770566857 CA372337875 |
166 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs776159289 CA4896369 |
169 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1436787408 CA372337914 |
169 | M>K | No |
ClinGen gnomAD |
|
|
CA187309058 rs1027331470 |
169 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs759908753 CA4896370 |
171 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896373 rs531863353 |
174 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA372338006 rs1172084703 |
176 | L>S | No |
ClinGen TOPMed |
|
|
CA4896375 rs751619785 |
177 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA187309115 rs910015883 |
178 | A>T | No |
ClinGen TOPMed |
|
|
CA4896376 rs750622637 |
179 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs767722169 CA4896377 COSM1096755 |
179 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4896378 rs544001579 |
181 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1189976064 CA372338084 |
183 | E>K | No |
ClinGen gnomAD |
|
|
CA372338121 rs1369466042 |
185 | P>R | No |
ClinGen gnomAD |
|
|
rs199822638 CA4896381 |
187 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA187309178 rs758457058 |
189 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1458323327 CA372338168 |
190 | D>H | No |
ClinGen gnomAD |
|
|
CA372338176 rs1320647123 |
191 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA372338207 rs1335937435 |
196 | L>V | No |
ClinGen gnomAD |
|
|
CA4896387 rs780889392 |
199 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs441914 CA187309187 |
199 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372338259 rs1397723793 |
203 | V>A | No |
ClinGen Ensembl |
|
|
CA4896388 rs745572734 |
205 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs542351463 CA187309958 |
209 | C>R | No |
ClinGen gnomAD |
|
|
CA4896429 rs755358164 |
210 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs368117361 CA4896430 |
212 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4896432 rs772531286 |
214 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4896433 rs773734634 COSM176116 |
215 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA372338497 COSM1195416 rs1191402341 |
215 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM1096756 CA4896436 rs571831372 |
217 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed |
|
CA4896437 rs776816199 |
218 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs977526362 CA187309989 |
219 | F>L | No |
ClinGen Ensembl |
|
|
rs759722612 CA4896438 |
220 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs542335448 CA4896439 |
221 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767503171 CA4896443 |
227 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767503171 CA372338636 |
227 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372338649 rs753510043 |
230 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896448 rs754630590 |
230 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs753510043 CA4896447 |
230 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896449 rs778661680 |
232 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1589592115 CA372338713 |
235 | A>P | No |
ClinGen Ensembl |
|
|
CA372338717 rs1589592115 |
235 | A>T | No |
ClinGen Ensembl |
|
|
COSM1700723 rs910402732 CA187310099 |
235 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1589592142 CA372338729 |
236 | Y>S | No |
ClinGen Ensembl |
|
|
rs758763055 CA4896451 |
239 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA372338811 rs1249457756 |
242 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs747569316 CA4896453 |
244 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1589592210 CA372338837 |
244 | H>P | No |
ClinGen Ensembl |
|
|
CA372338846 rs1185702777 |
245 | P>T | No |
ClinGen gnomAD |
|
|
rs1425455348 CA372338866 |
246 | F>S | No |
ClinGen gnomAD |
|
|
CA4896456 rs745990732 |
247 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1037631038 CA187310155 |
248 | P>S | No |
ClinGen Ensembl |
|
|
rs769858175 CA4896457 |
249 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 250 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372338925 rs767488832 |
251 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896460 rs767488832 |
251 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372338934 rs1257364226 |
252 | D>G | No |
ClinGen TOPMed |
|
|
rs1287476990 CA372338960 |
254 | M>V | No |
ClinGen gnomAD |
|
|
COSM1096758 rs765959967 CA4896463 |
258 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs753251817 CA4896464 |
259 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1226935325 CA372339062 |
261 | P>A | No |
ClinGen TOPMed |
|
|
rs754541615 CA4896465 |
262 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs928858016 CA187310196 |
264 | F>I | No |
ClinGen TOPMed |
|
|
rs1353496785 CA372339104 |
264 | F>L | No |
ClinGen TOPMed |
|
|
CA372339128 rs1312127564 |
266 | M>I | No |
ClinGen TOPMed |
|
|
CA372339183 rs1269538562 |
270 | L>F | No |
ClinGen gnomAD |
|
|
CA372339193 rs758744672 |
271 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758744672 CA4896468 |
271 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758744672 CA372339195 |
271 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372339211 rs1240122732 |
272 | H>Y | No |
ClinGen gnomAD |
|
|
rs752026665 CA4896470 |
274 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 275 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422288937 CA372339275 |
276 | V>D | No |
ClinGen gnomAD |
|
|
rs757719239 CA4896471 |
276 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372339305 rs1461632185 |
278 | K>T | No |
ClinGen gnomAD |
|
|
CA4896493 rs374737746 |
281 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4896495 rs768962599 |
282 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372339517 rs1182679247 |
282 | G>V | No |
ClinGen TOPMed |
|
|
rs770767532 CA4896498 |
288 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs759563170 CA4896500 |
292 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs143980058 CA4896502 |
294 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA187313637 rs148661685 |
296 | S>F | No |
ClinGen ESP |
|
|
rs369314599 CA372339643 |
299 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3382132 CA4896503 rs369314599 |
299 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM3432171 rs763676755 CA4896504 |
301 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4896505 rs751217904 |
301 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA4896506 rs762079264 |
302 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA187313648 rs767984391 |
303 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896507 rs767984391 |
303 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372339702 rs1396337699 |
304 | D>G | No |
ClinGen gnomAD |
|
|
CA372339710 rs1408778720 |
305 | I>L | No |
ClinGen gnomAD |
|
|
rs142183683 CA4896509 |
306 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372339738 rs1302173253 |
307 | D>A | No |
ClinGen gnomAD |
|
|
rs1441152959 CA372339734 |
307 | D>N | No |
ClinGen gnomAD |
|
|
rs1368369994 CA372339754 |
308 | V>A | No |
ClinGen gnomAD |
|
|
CA4896512 rs532760554 |
310 | L>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 310 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4896514 rs779214187 |
313 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs755533316 CA4896515 |
315 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372339856 rs1411127149 |
317 | I>V | No |
ClinGen gnomAD |
|
|
rs781077590 CA4896517 |
318 | Q>E | No |
ClinGen ExAC gnomAD |
|
| rs1555546497 | 319 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753745254 CA4896558 |
320 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA372340733 rs1215051592 |
320 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs778845003 CA4896560 |
321 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1429017517 CA372340803 |
325 | L>P | No |
ClinGen gnomAD |
|
|
rs1169712854 CA372340825 |
327 | H>Y | No |
ClinGen gnomAD |
|
|
rs747638653 CA4896561 |
328 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 328 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777481517 CA4896563 |
330 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372340876 rs1291941080 |
331 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs777091716 CA4896566 |
332 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1375603274 CA372340893 |
332 | A>V | No |
ClinGen TOPMed |
|
|
CA372340903 rs1589621514 |
333 | H>P | No |
ClinGen Ensembl |
|
|
CA187317294 rs61740856 |
336 | S>F | No |
ClinGen Ensembl |
|
|
rs770365068 CA4896568 |
337 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs866340184 CA187317328 |
337 | S>R | No |
ClinGen Ensembl |
|
|
rs1448600479 CA372340984 |
339 | D>E | No |
ClinGen TOPMed |
|
|
CA4896569 rs775863227 |
341 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1337586149 CA372341002 |
341 | K>R | No |
ClinGen gnomAD |
|
|
rs1054509063 CA187317329 |
343 | G>D | No |
ClinGen TOPMed |
|
|
CA4896571 rs764136800 |
344 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372341038 rs751783219 |
344 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896572 rs751783219 |
344 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372341049 rs1204744363 |
345 | A>V | No |
ClinGen gnomAD |
|
|
CA4896574 rs767758201 |
347 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896573 rs142305056 COSM4162694 |
347 | R>W | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA187317366 rs918100292 |
348 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4896575 rs753582837 |
348 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA372341085 rs1589621767 |
349 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 349 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372341099 rs1160506854 |
350 | W>* | No |
ClinGen TOPMed |
|
|
rs778847608 CA372341131 |
352 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs778847608 CA4896577 |
352 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4896578 rs139787073 |
353 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA187317428 rs1045288657 |
355 | N>D | No |
ClinGen Ensembl |
|
|
CA4896581 rs746546343 |
356 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372341198 rs1488692296 |
357 | Q>R | No |
ClinGen TOPMed |
|
|
CA4896582 rs770655578 |
359 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA4896583 rs781002825 |
359 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4896584 rs746167665 |
361 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1589621887 CA372341244 |
361 | T>P | No |
ClinGen Ensembl |
|
|
rs770348664 CA4896585 |
362 | T>A | No |
ClinGen ExAC TOPMed |
|
|
CA372341253 rs770348664 |
362 | T>P | No |
ClinGen ExAC TOPMed |
|
|
VAR_035054 CA4896586 rs11997191 RCV000888119 |
364 | Q>R | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA372341286 rs1350664226 |
365 | L>V | No |
ClinGen Ensembl |
|
|
CA372341302 rs1286590660 |
366 | L>P | No |
ClinGen TOPMed |
|
|
CA4896588 rs768750945 |
367 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4896589 rs551877642 |
368 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300186885 CA372341345 |
370 | F>V | No |
ClinGen TOPMed |
|
|
rs984448037 CA187319037 |
371 | R>S | No |
ClinGen TOPMed |
|
|
CA187319039 rs920151080 |
372 | D>N | No |
ClinGen Ensembl |
|
|
CA372341765 rs1172945738 |
374 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4896611 rs760940061 |
375 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 376 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4896612 rs766651278 |
378 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 382 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372341866 rs758557884 |
387 | E>D | No |
ClinGen gnomAD |
|
|
CA372341879 rs1173420426 |
389 | F>Y | No |
ClinGen gnomAD |
|
|
CA372341890 rs1292560174 |
391 | K>E | No |
ClinGen TOPMed |
|
|
CA372341895 rs1446336816 |
391 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 392 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4896616 rs780649337 |
395 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM379466 rs547500764 CA4896619 |
398 | H>Y | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA4896621 rs755682267 |
400 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs779780194 CA4896622 |
401 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1234684393 CA372341966 |
402 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA372341974 rs1290215150 |
403 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 403 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 404 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4896646 rs758848999 |
409 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197693775 CA372342214 |
411 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 414 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4896647 rs778262287 |
416 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000884447 rs145045660 CA4896648 |
416 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA187320511 rs1044868766 |
417 | R>Q | No |
ClinGen Ensembl |
|
|
CA4896650 rs202173652 |
417 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768539382 CA4896652 |
419 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1402162783 CA372342381 |
424 | A>G | No |
ClinGen gnomAD |
|
|
rs182448884 CA4896654 |
424 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1402162783 CA372342383 |
424 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4896655 rs779515352 |
426 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1039809008 CA187320553 |
427 | Q>R | No |
ClinGen TOPMed |
|
|
rs760101212 CA4896657 COSM1249961 |
431 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4896658 rs765973864 |
432 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA372342482 rs765973864 |
432 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs753398864 CA4896659 |
433 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA372342510 rs759279025 |
434 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896660 rs759279025 |
434 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353121305 CA372342505 |
434 | S>T | No |
ClinGen gnomAD |
|
|
rs541912616 CA4896662 |
435 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1213706083 CA372342552 |
437 | D>E | No |
ClinGen gnomAD |
|
|
rs1439172228 CA372342623 |
439 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372342629 rs1272726824 |
440 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 440 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372342641 rs1225952483 |
441 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 448 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372342691 rs1379333217 |
449 | P>A | No |
ClinGen gnomAD |
|
|
rs201877406 COSM604520 CA4896683 RCV000917250 |
449 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA372342696 rs1395594172 |
450 | T>A | No |
ClinGen gnomAD |
|
|
rs750450951 CA4896689 |
451 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896688 rs750450951 |
451 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 452 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4896690 rs780409767 |
454 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1374962735 CA372342740 |
457 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs753266446 CA4896691 |
457 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777669551 CA4896693 |
459 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 459 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4896695 rs770857480 |
460 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769363700 CA4896698 |
463 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4896697 rs368842594 |
463 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4896699 rs143357568 |
466 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 467 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4896700 rs373884314 |
468 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA187321516 rs1020308063 |
468 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1481047386 CA372342814 |
469 | M>I | No |
ClinGen TOPMed |
|
|
CA4896701 rs763677781 |
469 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs966061937 CA187321517 |
469 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 471 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372342850 rs1448014024 |
474 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 477 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147159737 CA372342910 |
478 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1219509726 CA372342904 |
478 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA187321541 rs1045681947 |
480 | A>T | No |
ClinGen TOPMed |
|
|
rs754247305 CA187321550 |
480 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs762089441 CA4896703 |
481 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA4896704 rs556706834 |
482 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1569556090 CA372342966 |
483 | E>Q | No |
ClinGen Ensembl |
|
|
CA372343000 rs1443469557 |
486 | P>S | No |
ClinGen gnomAD |
|
|
rs751024080 CA4896705 |
490 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372343061 rs1356804537 |
491 | L>V | No |
ClinGen TOPMed |
|
|
rs372903792 CA4896706 |
492 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372343071 rs1385481289 |
492 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1218694217 CA372343081 |
493 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4896707 rs148369529 |
494 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1463130072 CA372343123 |
497 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs746747423 CA4896712 |
500 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4896713 rs558170108 |
501 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs145191224 CA187321654 |
503 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4896716 rs745848848 |
504 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284339351 CA372343373 |
507 | N>D | No |
ClinGen gnomAD |
|
|
CA187322680 rs142393961 |
507 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs561392014 CA4896742 |
509 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs561392014 CA4896741 |
509 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772459587 CA4896744 |
510 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4896745 rs773659888 |
510 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777287575 CA4896748 |
513 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs765275383 CA4896750 |
514 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 514 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372343478 rs1569556147 |
515 | T>A | No |
ClinGen Ensembl |
|
|
rs1482384691 CA372343488 |
516 | F>L | No |
ClinGen gnomAD |
|
|
rs752943824 CA4896751 |
518 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763038519 CA4896752 |
519 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA372343539 rs1439404560 COSM1096760 |
520 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA372343570 rs1419032763 |
522 | H>R | No |
ClinGen gnomAD |
|
|
CA4896753 rs764333152 |
524 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs568991109 CA187325544 |
524 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1300901345 CA372343600 |
527 | S>G | No |
ClinGen TOPMed |
|
|
CA187325562 rs777135402 |
527 | S>R | No |
ClinGen Ensembl |
|
|
CA372343613 rs200524321 |
528 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753784053 CA4896757 |
529 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA372343622 rs778334141 |
530 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM258826 rs778334141 CA4896759 |
530 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1298414316 CA372343630 |
531 | Q>R | No |
ClinGen TOPMed |
|
|
CA4896760 rs747713457 |
534 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA4896761 rs747713457 |
534 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1421076811 CA372343676 |
538 | V>I | No |
ClinGen TOPMed |
|
|
CA4896762 rs777567919 |
542 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1306888127 CA372343702 |
542 | S>R | No |
ClinGen gnomAD |
|
|
rs981795850 CA372343720 |
544 | A>D | No |
ClinGen gnomAD |
|
|
rs981795850 CA187325596 |
544 | A>V | No |
ClinGen gnomAD |
|
|
rs777250953 CA4896765 |
545 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs771493434 CA4896764 |
545 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1307554063 CA372343731 |
546 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746413290 CA4896766 |
546 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs770358720 CA4896767 |
549 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs138519822 CA4896769 |
551 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750793638 CA4896770 |
552 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896771 rs774614743 |
553 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1412210391 CA372343777 |
553 | S>C | No |
ClinGen gnomAD |
|
|
CA4896772 rs192799797 |
558 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs192799797 CA372343801 |
558 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201469363 CA4896773 |
558 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs982286577 CA372343818 |
560 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs946830022 CA187325666 |
562 | L>F | No |
ClinGen Ensembl |
|
|
CA4896777 rs752078645 |
563 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA372343834 rs1365428086 |
563 | R>Q | No |
ClinGen gnomAD |
|
|
rs759205642 CA4896779 |
566 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs377637628 CA4896782 |
569 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377637628 CA4896781 |
569 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372343890 rs1452482926 |
572 | Q>* | No |
ClinGen gnomAD |
|
|
rs1452482926 CA372343888 |
572 | Q>K | No |
ClinGen gnomAD |
|
|
rs1278199452 CA372343899 |
573 | L>R | No |
ClinGen TOPMed |
|
|
rs770135182 CA4896784 |
575 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767136020 CA372343911 |
575 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449171761 CA372343913 |
576 | A>T | No |
ClinGen TOPMed |
|
|
CA372343982 rs1361478973 |
585 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 587 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392439778 CA372344000 |
588 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762070002 COSM1096761 CA4896789 |
589 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1465503164 CA372344007 |
589 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4896792 rs776246084 |
595 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs759377330 CA4896793 |
596 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs144554854 CA4896795 |
599 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1050772168 CA187325748 |
603 | M>L | No |
ClinGen TOPMed |
|
|
rs763750762 CA4896797 |
605 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs550117747 CA4896799 |
606 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4896798 rs146802993 |
606 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1217925455 CA372344143 |
609 | E>D | No |
ClinGen gnomAD |
|
|
CA372344141 rs1589648056 |
609 | E>G | No |
ClinGen Ensembl |
|
|
rs1477172881 CA372344148 |
610 | G>E | No |
ClinGen gnomAD |
|
|
rs780903540 CA4896800 |
610 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201427766 CA4896801 RCV000918467 |
614 | A>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs756559569 CA4896802 |
615 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1411418482 CA372344195 |
618 | M>V | No |
ClinGen gnomAD |
|
|
CA4896804 rs749833745 |
619 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372344206 rs749833745 |
619 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768699529 CA187325774 |
620 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768699529 CA4896805 |
620 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768699529 CA372344209 |
620 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372344235 rs1446727169 |
623 | E>D | No |
ClinGen TOPMed |
|
|
CA372344229 rs1341261704 |
623 | E>K | No |
ClinGen gnomAD |
|
|
CA372344230 rs1341261704 |
623 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 624 | I>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333495325 CA372344245 |
625 | L>Q | No |
ClinGen TOPMed |
|
|
rs142830138 CA372344254 CA4896808 |
626 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 628 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773494985 CA4896809 |
628 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1285864474 CA372344268 |
629 | H>N | No |
ClinGen gnomAD |
|
|
rs1202855347 COSM3319837 CA372344276 |
630 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA187325801 rs151057439 |
632 | S>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA372344299 rs1589648435 |
633 | K>R | No |
ClinGen Ensembl |
|
|
CA4896814 rs140493791 |
635 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1176489045 CA372344312 |
635 | D>G | No |
ClinGen TOPMed |
|
|
CA372344315 rs1366389415 |
636 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs751048030 CA4896815 |
637 | H>N | No |
ClinGen ExAC |
|
|
CA4896817 rs767064536 |
638 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1417827898 CA372344358 |
641 | F>L | No |
ClinGen gnomAD |
|
|
rs750158523 CA4896818 |
642 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs756402577 CA4896819 |
643 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1569556189 CA372344380 |
645 | K>R | No |
ClinGen Ensembl |
|
|
rs755436456 CA4896822 |
647 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755436456 CA4896823 |
647 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA187325856 rs978198914 |
648 | M>T | No |
ClinGen Ensembl |
|
|
CA4896829 rs775387417 |
652 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896828 rs771085562 |
652 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA372344458 rs753853397 |
656 | R>L | No |
ClinGen TOPMed |
|
|
CA187325866 rs753853397 |
656 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4896830 rs377241801 |
656 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1240868879 CA372344461 |
657 | V>F | No |
ClinGen gnomAD |
|
|
rs1390110778 CA372344510 |
661 | G>R | No |
ClinGen TOPMed |
|
|
CA372344529 rs1458863149 |
662 | I>T | No |
ClinGen gnomAD |
|
|
rs1035175843 CA187325869 |
663 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4896832 rs555053490 |
663 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761403964 CA4896834 |
665 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200436717 CA4896836 |
666 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200436717 CA4896835 |
666 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA372344586 rs1465555998 |
667 | S>T | No |
ClinGen gnomAD |
|
|
rs765977192 CA4896837 |
668 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs754133074 CA4896838 |
669 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4896839 rs139800521 |
670 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197471780 CA372344637 |
671 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4896840 rs765716871 |
671 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589648954 CA372344656 |
673 | F>V | No |
ClinGen Ensembl |
|
|
CA372344691 rs199546730 |
675 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA187325954 rs199546730 |
675 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4896845 rs543886953 |
677 | T>N | No |
ClinGen 1000Genomes ExAC |
|
|
CA4896846 rs781581339 |
678 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1096764 rs1193059379 CA372344897 |
681 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs201855669 CA4896864 |
685 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4896865 rs781560736 |
687 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs529852610 CA4896866 |
687 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1300512270 CA372344943 |
688 | T>A | No |
ClinGen gnomAD |
|
|
CA4896867 rs145814770 |
689 | F>V | No |
ClinGen ESP ExAC |
|
|
CA372344968 rs1244947588 |
691 | D>G | No |
ClinGen TOPMed |
|
|
rs932016011 TCGA novel CA187330943 COSM170080 |
692 | F>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated TOPMed NCI-TCGA |
|
CA4896868 rs530334067 |
693 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs567389120 CA4896870 |
694 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs548466626 CA4896869 |
694 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1451734320 CA372344996 |
695 | C>S | No |
ClinGen TOPMed |
|
|
rs1229728243 CA372345016 |
698 | E>K | No |
ClinGen gnomAD |
|
|
CA372345027 rs201261244 |
699 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4896871 rs201261244 |
699 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1243506384 CA372345035 |
700 | E>D | No |
ClinGen gnomAD |
|
|
rs1589673216 CA372345049 |
702 | E>D | No |
ClinGen Ensembl |
|
|
CA4896873 rs140688536 |
703 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4896874 rs776232874 |
704 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA187330965 rs200559165 |
705 | E>G | No |
ClinGen 1000Genomes |
|
|
rs769470084 CA4896876 |
708 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896875 rs142301665 |
708 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1484290022 CA372345092 |
709 | P>L | No |
ClinGen gnomAD |
|
|
CA4896879 rs764653129 |
712 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA372345125 rs1589673363 |
714 | E>G | No |
ClinGen Ensembl |
|
|
rs1419668785 CA372345140 |
716 | L>P | No |
ClinGen gnomAD |
|
|
rs1589673426 CA372345172 |
720 | E>D | No |
ClinGen Ensembl |
|
|
CA372345166 rs1342883785 |
720 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 720 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372345175 rs184138488 |
721 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4896882 rs184138488 |
721 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA187330986 rs57111538 |
721 | C>Y | No |
ClinGen 1000Genomes |
|
|
CA4896883 rs747960910 |
723 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747960910 CA4896884 |
723 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747960910 CA187330991 |
723 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896887 rs758181971 |
728 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201373602 CA4896889 |
729 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1674215 CA4896892 rs745389614 |
735 | V>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs745389614 CA372345266 |
735 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896891 rs780644436 |
735 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 739 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA187331050 rs768118828 |
744 | R>C | No |
ClinGen TOPMed |
|
|
CA4896896 rs768943418 |
744 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA372345328 rs768943418 |
744 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 747 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762362062 CA4896898 |
747 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1717595 rs750460587 CA4896900 |
750 | E>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4896901 rs760850912 |
751 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4896902 rs766610274 |
752 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754070715 CA4896903 |
752 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1377307336 CA372345379 |
753 | P>R | No |
ClinGen gnomAD |
|
|
CA4896905 rs777475046 |
754 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758178159 CA4896904 |
754 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA372345390 rs1369709559 |
755 | Y>C | No |
ClinGen gnomAD |
|
|
rs751390118 CA4896906 |
757 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA187331099 rs868453727 |
757 | E>K | No |
ClinGen Ensembl |
|
|
rs757122379 CA4896907 |
762 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 762 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309016297 CA372345482 |
767 | V>I | No |
ClinGen TOPMed |
|
|
CA187332177 rs970976420 |
772 | T>A | No |
ClinGen TOPMed |
|
|
rs745935240 CA4896961 |
772 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372345538 rs1569556500 |
776 | L>V | No |
ClinGen Ensembl |
|
|
rs376538687 CA4896962 |
777 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369498373 CA372345612 |
787 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369498373 CA4896963 |
787 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1450443766 CA372345614 |
788 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA372345613 rs1450443766 |
788 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1174557223 CA372345638 |
791 | E>A | No |
ClinGen TOPMed |
|
|
rs1174454724 CA372345651 |
793 | F>V | No |
ClinGen gnomAD |
|
|
rs760529775 CA4896967 |
794 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201229068 CA4896968 |
798 | K>T | No |
ClinGen 1000Genomes ExAC |
|
|
rs1487441196 CA372345700 |
800 | E>G | No |
ClinGen TOPMed |
|
|
rs1334572746 CA372345717 CA372345718 |
802 | D>E | No |
ClinGen gnomAD |
|
|
CA4896970 rs758937755 |
802 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372345713 rs758937755 |
802 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204378753 CA372345731 |
804 | W>* | No |
ClinGen TOPMed |
|
|
rs1236254564 CA372345755 |
807 | M>I | No |
ClinGen gnomAD |
|
|
rs1276153065 CA372345760 |
808 | V>A | No |
ClinGen gnomAD |
|
|
CA372345784 rs1260868156 |
811 | M>I | No |
ClinGen gnomAD |
|
|
CA4896971 rs764885568 |
811 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA4896972 rs201900723 |
812 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758081266 CA4896973 |
813 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4896976 rs112917986 |
819 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA187332251 rs746440641 |
821 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480168116 CA372345849 |
821 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 822 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143037379 CA4897011 |
827 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372345918 rs1425907862 |
829 | Q>* | No |
ClinGen gnomAD |
|
|
COSM205405 CA372345927 rs1164686761 |
830 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4897015 rs756531728 |
834 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372345957 rs1230266902 |
835 | L>S | No |
ClinGen TOPMed |
|
|
rs1343923381 CA372345971 |
837 | M>R | No |
ClinGen TOPMed |
|
|
CA187333471 rs142453138 |
839 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA372345987 rs1350254803 |
839 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4897018 rs755027774 |
840 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748203858 CA4897020 |
841 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372345998 rs1368253895 |
842 | G>S | No |
ClinGen gnomAD |
|
|
CA4897022 rs777869178 |
846 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA187333507 rs942744919 |
848 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4897024 rs769754928 |
849 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1259178439 CA372346043 |
849 | A>V | No |
ClinGen gnomAD |
|
|
rs368766509 CA4897025 |
850 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4897026 rs749192206 |
851 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA4897028 rs773844896 |
852 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA372346061 rs1248835009 |
852 | A>V | No |
ClinGen TOPMed |
|
|
rs767186988 CA4897030 |
854 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs999133012 CA187333513 |
856 | L>S | No |
ClinGen Ensembl |
|
|
rs1157822352 CA372346089 |
857 | S>A | No |
ClinGen gnomAD |
|
| rs930117957 | 861 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772803987 CA4897031 |
862 | M>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1096768 CA4897033 rs766778861 |
865 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA372346149 rs766778861 |
865 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145382501 CA4897050 |
867 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4897049 rs138112402 |
867 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776914512 CA4897051 |
868 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs143673786 CA4897052 |
869 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs564384072 CA4897054 |
871 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA187335571 rs564384072 |
871 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4897055 rs763068115 COSM1455199 |
872 | E>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs764032094 CA4897056 |
873 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1569556645 CA372346217 |
874 | T>A | No |
ClinGen Ensembl |
|
|
rs1323524082 CA372346221 |
874 | T>I | No |
ClinGen TOPMed |
|
|
CA4897058 rs201800954 |
877 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4897059 rs757492102 |
878 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4897061 rs753675192 |
885 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774133897 CA4897057 |
885 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs759618816 CA4897063 |
886 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4897065 rs772065414 |
887 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372346302 rs772065414 |
887 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213327279 CA372346299 |
887 | G>R | No |
ClinGen TOPMed |
|
|
CA4897067 rs746526889 |
888 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777221172 CA4897066 |
888 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292633113 CA372346312 |
889 | A>T | No |
ClinGen gnomAD |
|
|
rs937554538 CA187335662 |
889 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776322761 CA4897069 |
891 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs759938766 CA4897070 |
892 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4897071 COSM205406 rs201075864 |
893 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs149194254 CA372346352 |
895 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372346350 rs1184630145 |
895 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 896 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372346355 rs764703669 |
896 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4897074 COSM1643531 rs764703669 |
896 | V>M | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4897075 rs751636880 |
898 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs901587906 CA187335722 |
900 | T>A | No |
ClinGen gnomAD |
|
|
rs901587906 CA372346377 |
900 | T>P | No |
ClinGen gnomAD |
|
|
rs112550746 COSM1249959 CA187335728 |
901 | P>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1319164778 CA372346384 |
901 | P>S | No |
ClinGen gnomAD |
|
|
rs1319164778 CA372346382 |
901 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 902 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569556859 CA372346634 |
906 | P>L | No |
ClinGen Ensembl |
|
|
CA187341648 rs978354470 |
907 | A>G | No |
ClinGen TOPMed |
|
|
CA372346640 rs1001301736 |
908 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM1096769 rs1001301736 CA187341660 |
908 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4897100 rs758246464 |
909 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1033233269 CA187341706 |
913 | A>D | No |
ClinGen Ensembl |
|
|
rs575982056 CA4897103 |
913 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372346697 rs1337877490 |
914 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4897105 rs745388733 |
917 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1468667671 CA372346763 |
918 | W>* | No |
ClinGen gnomAD |
|
|
CA187341749 rs957246632 |
918 | W>R | No |
ClinGen Ensembl |
|
|
rs755665670 CA4897106 |
920 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA372346784 rs1226326733 |
920 | A>V | No |
ClinGen gnomAD |
|
|
CA187341758 rs373386814 |
921 | L>V | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 922 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779819080 CA372346802 |
922 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA4897108 rs749614133 |
923 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4897109 rs144243049 |
925 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372346841 rs1399230321 |
926 | V>L | No |
ClinGen gnomAD |
|
|
rs1328813200 CA372346856 |
928 | V>M | No |
ClinGen gnomAD |
|
|
CA4897111 rs375890251 |
930 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1284794861 CA372346919 |
932 | S>A | No |
ClinGen gnomAD |
|
|
CA4897112 rs772734657 |
933 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1253971737 CA372346965 |
935 | T>A | No |
ClinGen gnomAD |
|
|
CA372346963 rs1253971737 |
935 | T>P | No |
ClinGen gnomAD |
|
|
CA372346982 rs1341243858 |
936 | I>T | No |
ClinGen gnomAD |
|
|
CA187341807 CA372346995 rs931603778 |
937 | H>Q | No |
ClinGen TOPMed |
|
|
CA4897114 rs760818728 |
938 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1407584067 CA372347005 |
938 | Q>R | No |
ClinGen TOPMed |
|
|
CA372347017 rs1291642151 |
939 | H>R | No |
ClinGen gnomAD |
|
|
CA372347078 rs1249748276 |
943 | V>G | No |
ClinGen gnomAD |
|
|
CA372347084 rs1488916800 |
944 | G>R | No |
ClinGen gnomAD |
|
|
CA4897115 rs766495610 |
946 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4897117 rs747898638 |
948 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4897116 rs776977511 |
948 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4897160 rs373262471 |
949 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372347703 rs1454390770 |
951 | M>T | No |
ClinGen gnomAD |
|
|
CA372347710 rs1337299068 |
952 | V>L | No |
ClinGen gnomAD |
|
|
CA4897161 rs776219632 |
953 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs960606744 CA187345249 |
954 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4897164 rs752437802 |
955 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752437802 CA372347727 |
955 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768172568 CA4897166 |
956 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266482030 CA372347734 |
956 | Q>K | No |
ClinGen gnomAD |
|
|
rs776145968 CA187345294 |
958 | Q>* | No |
ClinGen Ensembl |
|
|
CA372347757 rs1204781676 |
959 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 962 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757726675 CA4897168 |
962 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4897169 rs144442267 |
963 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1357170703 CA372347783 |
963 | S>P | No |
ClinGen TOPMed |
|
|
CA4897172 rs780237538 |
964 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4897171 rs756229575 |
964 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA372347797 rs1589719753 |
965 | D>A | No |
ClinGen Ensembl |
|
|
CA4897174 rs768794595 |
967 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146605297 CA4897175 |
968 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1589719819 CA372347828 |
970 | I>L | No |
ClinGen Ensembl |
|
|
CA372347840 rs1589719840 |
971 | I>S | No |
ClinGen Ensembl |
|
|
CA4897178 rs201382694 |
973 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759085388 CA4897179 |
974 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1201135545 CA372347856 |
974 | H>Y | No |
ClinGen gnomAD |
|
|
CA4897180 rs764888094 |
975 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA372347872 rs1245483117 |
976 | M>K | No |
ClinGen Ensembl |
|
|
rs775161820 CA4897181 |
977 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4897183 rs201256157 |
978 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 978 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310814154 CA372347906 |
981 | Q>K | No |
ClinGen gnomAD |
|
|
CA372347926 rs1207193487 |
984 | A>T | No |
ClinGen gnomAD |
|
|
rs772990100 CA187345365 |
988 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs376168329 CA4897184 |
988 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757630182 CA4897186 |
990 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4897188 rs750981920 |
994 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4897189 rs199863590 |
995 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4897191 rs749329849 |
996 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4897190 rs578169639 |
996 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4897193 rs76337474 |
997 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA187345430 rs892752837 |
997 | G>V | No |
ClinGen Ensembl |
|
|
rs1453061387 CA372348017 |
998 | Q>* | No |
ClinGen TOPMed |
|
|
CA372348020 rs1408090011 |
998 | Q>R | No |
ClinGen TOPMed |
|
|
CA372348033 rs1328809333 |
1000 | A>T | No |
ClinGen TOPMed |
|
|
rs202027868 CA187345441 |
1001 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs770888634 CA4897195 |
1001 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA372348043 rs1282918009 |
1002 | S>G | No |
ClinGen gnomAD |
|
|
CA187346664 COSM1203344 rs962964671 |
1004 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs773938555 CA4897222 |
1006 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA4897224 rs577244477 |
1007 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372348206 rs1162808618 |
1009 | M>I | No |
ClinGen gnomAD |
|
|
rs1445280055 CA372348204 |
1009 | M>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1010 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4897226 rs761083003 |
1011 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4897228 rs141900009 |
1012 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759638677 CA4897229 |
1013 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1384273727 CA372348255 |
1015 | V>M | No |
ClinGen gnomAD |
|
|
CA4897230 rs765181269 |
1020 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1353652008 CA372348309 |
1021 | L>V | No |
ClinGen gnomAD |
|
|
rs200483312 CA372348343 |
1024 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1569557130 CA372348345 |
1024 | T>N | No |
ClinGen Ensembl |
|
|
CA4897232 rs200483312 |
1024 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs374820736 CA4897233 |
1026 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4897234 rs144430696 |
1026 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4897235 rs756014219 |
1030 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754976184 COSM1313755 CA4897238 |
1031 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA372348428 rs1471216027 |
1033 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1235739254 CA372348423 |
1033 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4897241 rs141104902 |
1035 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747340215 CA4897243 |
1037 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771245314 CA4897244 |
1039 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs561229243 CA4897246 |
1041 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA187346772 rs945922831 |
1042 | G>A | No |
ClinGen gnomAD |
|
|
rs1443805758 CA372348502 |
1042 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775372766 CA4897248 |
1043 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs370785525 CA187346778 |
1043 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs901791685 CA187346785 |
1044 | L>V | No |
ClinGen gnomAD |
|
|
CA372348527 rs1199764567 |
1045 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA372348531 rs1199764567 |
1045 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA372348520 rs1345454464 |
1045 | W>R | No |
ClinGen gnomAD |
|
|
CA4897250 rs763193216 |
1047 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA4897281 rs751071134 |
1048 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA372348715 rs1488311332 |
1048 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4897282 rs756802548 |
1049 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223105718 CA372348733 |
1050 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4897283 rs780954801 |
1053 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA372348789 rs1233063609 |
1054 | V>D | No |
ClinGen TOPMed |
|
|
CA372348783 rs1279033881 |
1054 | V>F | No |
ClinGen gnomAD |
|
|
CA372348808 CA372348806 rs1188428035 |
1055 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs372636586 CA372348795 |
1055 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372636586 CA4897284 |
1055 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 1056 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145461495 CA187348172 |
1059 | G>R | No |
ClinGen ESP TOPMed |
|
|
CA4897285 rs374730093 |
1059 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4897286 rs780589782 |
1060 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA372348906 rs1288520395 |
1063 | Q>E | No |
ClinGen TOPMed |
|
|
TCGA novel rs1337552723 CA372348957 |
1066 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs1287022315 CA372348961 |
1067 | I>V | No |
ClinGen TOPMed |
|
|
CA372348972 rs1569557189 |
1068 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 1069 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372349031 rs1409556817 |
1072 | K>Q | No |
ClinGen TOPMed |
|
|
CA372349042 rs1374514837 |
1073 | D>N | No |
ClinGen TOPMed |
|
|
CA4897288 rs769293577 |
1074 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA187348191 rs1031712628 |
1076 | T>I | No |
ClinGen gnomAD |
|
|
rs762013692 CA4897291 |
1080 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA4897293 rs773519575 CA372349140 |
1081 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4897295 rs764959078 |
1082 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs762807737 CA4897297 |
1086 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA372349184 rs755772604 |
1087 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4897320 rs755772604 |
1087 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766196925 CA4897321 |
1088 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1160988743 CA372349209 |
1090 | L>P | No |
ClinGen TOPMed |
|
|
CA4897322 rs143494640 |
1092 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1220217471 CA372349225 |
1093 | A>T | No |
ClinGen gnomAD |
|
|
rs544258745 CA187348457 |
1094 | C>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA4897324 rs562921963 |
1096 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM369369 CA4897325 rs200341701 |
1097 | R>C | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs758856671 CA4897326 |
1097 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4897327 rs777841137 |
1098 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA187348470 rs61741256 |
1100 | V>F | No |
ClinGen 1000Genomes |
|
|
rs61741256 CA187348467 |
1100 | V>I | No |
ClinGen 1000Genomes |
|
|
rs771128264 CA4897329 |
1104 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4897331 rs370665995 |
1107 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1304362333 CA372349329 |
1108 | L>M | No |
ClinGen TOPMed |
|
|
rs774048300 CA4897333 |
1108 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs138050761 CA4897335 |
1111 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761745649 CA4897334 |
1111 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA187348507 rs761745649 |
1111 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4897339 rs143606076 |
1112 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4897338 rs143606076 |
1112 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4897337 rs760331810 |
1112 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765594363 CA4897341 |
1113 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1274572691 CA372349371 |
1113 | Q>K | No |
ClinGen gnomAD |
|
|
CA372349387 rs1174090550 |
1114 | R>S | No |
ClinGen TOPMed |
|
|
rs758880469 CA4897343 |
1114 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA372349406 rs1227079626 |
1116 | P>L | No |
ClinGen gnomAD |
|
|
rs145998456 CA4897344 |
1116 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747086575 CA4897345 |
1117 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4897347 rs758423372 |
1118 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199526571 CA187348592 |
1120 | C>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA4897348 rs535766870 |
1122 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1483098372 CA372349800 |
1124 | N>S | No |
ClinGen TOPMed |
|
|
CA372349844 rs1166855962 |
1126 | M>I | No |
ClinGen gnomAD |
|
|
CA372349829 rs1448935630 |
1126 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA187348609 rs377063022 |
1126 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4897351 rs747954429 |
1127 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs370430690 CA4897353 |
1128 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372349873 rs1323176375 |
1128 | R>W | Variant assessed as Somatic; 4.691e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA372349885 rs1437786026 |
1129 | V>L | No |
ClinGen gnomAD |
|
|
CA372349915 rs1365186503 |
1130 | K>T | No |
ClinGen gnomAD |
|
|
rs1433690201 CA372349920 |
1131 | K>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1131 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765935381 CA4897355 |
1132 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA372350118 rs1589736556 |
1133 | V>G | No |
ClinGen Ensembl |
|
|
rs1589736568 CA372350125 |
1134 | W>G | No |
ClinGen Ensembl |
|
|
rs1589736574 CA372350139 |
1135 | V>G | No |
ClinGen Ensembl |
|
|
rs1231700768 CA372350144 |
1136 | G>C | No |
ClinGen gnomAD |
|
|
rs1461117699 CA372350158 |
1137 | S>T | No |
ClinGen gnomAD |
|
|
CA372350167 rs1270330754 |
1138 | R>* | No |
ClinGen gnomAD |
|
|
CA4897416 rs73364408 RCV000955397 |
1138 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1478791635 CA372350173 |
1139 | G>R | No |
ClinGen TOPMed |
|
|
rs1183158849 CA372350189 |
1141 | G>R | No |
ClinGen gnomAD |
|
|
CA372350211 rs1474640503 |
1143 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA372350224 rs1185388482 |
1144 | T>I | No |
ClinGen gnomAD |
|
|
rs1037995811 CA187349778 |
1146 | K>R | No |
ClinGen TOPMed |
|
|
COSM1686070 rs776557233 CA4897420 |
1147 | G>R | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs531331858 CA4897422 |
1151 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753016261 CA4897423 |
1152 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1153 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303442001 CA372350306 |
1153 | D>N | No |
ClinGen gnomAD |
|
|
CA4897425 rs767354051 |
1154 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370142294 CA4897428 |
1155 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370142294 CA4897427 |
1155 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748714457 CA4897430 |
1156 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4897433 rs747754944 |
1159 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs778413462 CA4897432 |
1159 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208253970 CA372350390 |
1161 | K>E | No |
ClinGen gnomAD |
|
|
rs571518234 CA4897437 |
1165 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs61743929 CA4897438 |
1165 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1394504583 CA372350446 |
1166 | H>R | No |
ClinGen gnomAD |
|
|
rs1432991640 CA372350457 |
1167 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA187349869 rs958255602 |
1168 | D>A | No |
ClinGen Ensembl |
|
|
CA4897439 rs759667126 |
1169 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769947015 CA4897440 |
1170 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1296744421 CA372350499 |
1171 | R>K | No |
ClinGen gnomAD |
|
|
rs775743100 CA4897441 |
1172 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301249581 CA372350542 |
1175 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs764466993 CA4897443 |
1180 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs750179565 CA4897444 |
1181 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4897446 rs200980381 |
1185 | S>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200980381 CA4897447 |
1185 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778331878 CA4897449 |
1186 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs201431534 CA187349934 |
1188 | E>K | No |
ClinGen gnomAD |
|
|
CA372350679 rs1282660847 |
1189 | E>D | No |
ClinGen TOPMed |
|
|
rs1409564187 CA372350692 |
1191 | K>Q | No |
ClinGen gnomAD |
|
|
rs199951582 CA4897454 |
1193 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781433506 CA4897455 |
1195 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA4897457 rs770437022 |
1198 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4897458 rs770437022 |
1198 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with A2RUS2
6 regional properties for A2RUS2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | cDENN domain | 105 - 291 | IPR001194 |
| repeat | WD40 repeat | 932 - 972 | IPR001680-1 |
| repeat | WD40 repeat | 975 - 1017 | IPR001680-2 |
| repeat | WD40 repeat | 1156 - 1196 | IPR001680-3 |
| domain | dDENN domain | 354 - 417 | IPR005112 |
| domain | Tripartite DENN domain | 1 - 424 | IPR037516 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| endosome to lysosome transport | The directed movement of substances from endosomes to lysosomes. |
| protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
| regulation of Rab protein signal transduction | Any process that modulates the frequency, rate or extent of Rab protein signal transduction. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRSLRKKREK | PRPEQWKGLP | GPPRAPEPED | VAVPGGVDLL | TLPQLCFPGG | VCVATEPKED |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CVHFLVLTDV | CGNRTYGVVA | QYYRPLHDEY | CFYNGKTHRE | CPGCFVPFAV | CVVSRFPYYN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SLKDCLSCLL | ALLKPCKDFE | VDSHIKDFAA | KLSLIPSPPP | GPLHLVFNMK | SLQIVLPARA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DPESPILDLD | LHLPLLCFRP | EKVLQILTCI | LTEQRIVFFS | SDWALLTLVT | ECFMAYLYPL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QWQHPFVPIL | SDQMLDFVMA | PTSFLMGCHL | DHFEEVSKEA | DGLVLINIDH | GSITYSKSTD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DNVDIPDVPL | LAAQTFIQRV | QSLQLHHELH | AAHLLSSTDL | KEGRAHRRSW | QQKLNCQIQQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TTLQLLVSIF | RDVKNHLNYE | HRVFNSEEFL | KTRAPGDHQF | YKQVLDTYMF | HSFLKARLNR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RMDAFAQMDL | DTQSEEDRIN | GMLLSPRRPT | VEKRASRKSS | HLHVTHRRMV | VSMPNLQDIA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MPELAPRNSS | LRLTDTAGCR | GSSAVLNVTP | KSPYTFKIPE | IHFPLESKCV | QAYHAHFVSM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LSEAMCFLAP | DNSLLLARYL | YLRGLVYLMQ | GQLLNALLDF | QNLYKTDIRI | FPTDLVKRTV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ESMSAPEWEG | AEQAPELMRL | ISEILDKPHE | ASKLDDHVKK | FKLPKKHMQL | GDFMKRVQES |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GIVKDASIIH | RLFEALTVGQ | EKQIDPETFK | DFYNCWKETE | AEAQEVSLPW | LVMEHLDKNE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| CVCKLSSSVK | TNLGVGKIAM | TQKRLFLLTE | GRPGYLEIST | FRNIEEVRRT | TTTFLLRRIP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TLKIRVASKK | EVFEANLKTE | CDLWHLMVKE | MWAGKKLADD | HKDPHYVQQA | LTNVLLMDAV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VGTLQSPGAI | YAASKLSYFD | KMSNEMPMTL | PETTLETLKH | KINPSAGEAF | PQAVDVLLYT |
| 910 | 920 | 930 | 940 | 950 | 960 |
| PGHLDPAEKV | EDAHPKLWCA | LSEGKVTVFN | ASSWTIHQHS | FKVGTAKVNC | MVMADQNQVW |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| VGSEDSVIYI | INVHSMSCNK | QLTAHCSSVT | DLIVQDGQEA | PSNVYSCSMD | GMVLVWNVST |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LQVTSRFQLP | RGGLTSIRLH | GGRLWCCTGN | SIMVMKMNGS | LHQELKIEEN | FKDTSTSFLA |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| FQLLPEEEQL | WAACAGRSEV | YIWSLKDLAQ | PPQRVPLEDC | SEINCMIRVK | KQVWVGSRGL |
| 1150 | 1160 | 1170 | 1180 | 1190 | |
| GQGTPKGKIY | VIDAERKTVE | KELVAHMDTV | RTLCSAEDRY | VLSGSGREEG | KVAIWKGE |