Q6ZUT9
PR
Gene name |
DENND5B |
Protein name |
DENN domain-containing protein 5B |
Names |
Rab6IP1-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:160518 |
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 Q6ZUT9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6ZUT9-F1 | Predicted | AlphaFoldDB |
742 variants for Q6ZUT9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA235165732 rs542715497 |
4 | S>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1253061028 CA384349398 |
4 | S>T | No |
ClinGen Ensembl |
|
| TCGA novel | 6 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210545760 CA384349367 |
9 | G>D | No |
ClinGen gnomAD |
|
|
CA235165731 rs997870323 |
9 | G>S | No |
ClinGen TOPMed |
|
|
rs1424482197 CA384349361 |
10 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA384349360 rs1424482197 |
10 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA384349362 rs1356749202 |
10 | P>S | No |
ClinGen TOPMed |
|
|
rs1015310167 CA235165730 |
11 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1015310167 CA235165729 |
11 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA384349349 rs1476900136 |
12 | S>L | No |
ClinGen TOPMed |
|
|
CA384349350 rs1476900136 |
12 | S>W | No |
ClinGen TOPMed |
|
|
rs1219522899 CA384349343 |
13 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1167645727 CA384349333 |
15 | S>C | No |
ClinGen TOPMed |
|
|
rs960906371 CA235165728 |
15 | S>P | No |
ClinGen Ensembl |
|
|
CA6504186 rs780751433 |
16 | P>L | No |
ClinGen ExAC |
|
|
CA235165727 rs1033552938 |
18 | A>P | No |
ClinGen Ensembl |
|
|
CA235165726 rs1004993265 |
18 | A>V | No |
ClinGen TOPMed |
|
|
rs1268032479 CA384349306 |
20 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA384349305 rs1429477918 |
20 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA384349304 rs1429477918 |
20 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA384349287 rs1374903312 |
23 | H>D | No |
ClinGen TOPMed |
|
|
rs1412900768 CA384349260 |
26 | V>A | No |
ClinGen TOPMed |
|
|
rs1365253960 CA384349263 |
26 | V>L | No |
ClinGen gnomAD |
|
|
CA384349243 rs1468725537 |
29 | G>W | No |
ClinGen gnomAD |
|
|
rs1340901903 CA384349221 |
32 | A>G | No |
ClinGen TOPMed |
|
|
rs1417693892 CA384349224 |
32 | A>T | No |
ClinGen gnomAD |
|
|
CA235165723 rs886631772 |
36 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA235165722 rs866509480 |
37 | E>* | No |
ClinGen Ensembl |
|
|
rs1181761197 CA384349186 |
37 | E>D | No |
ClinGen gnomAD |
|
|
CA384349172 rs1236819202 |
39 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA384349174 rs1459936579 |
39 | D>G | No |
ClinGen gnomAD |
|
|
rs1210636984 CA384349163 |
41 | L>M | No |
ClinGen gnomAD |
|
|
rs1341071785 CA384349155 |
42 | A>E | No |
ClinGen TOPMed |
|
|
rs759317136 CA6504139 |
44 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754499972 CA6504138 |
45 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766280264 CA384262079 |
48 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6504136 rs766280264 |
48 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs4930979 CA384262048 |
52 | R>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs4930979 CA6504134 VAR_040076 |
52 | R>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs4930979 CA384262049 |
52 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1273848850 CA384262040 |
53 | R>S | No |
ClinGen gnomAD |
|
|
CA6504133 rs767427368 |
54 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA234526370 rs767427368 |
54 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA234526359 rs369054817 |
56 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
COSM1361228 CA6504130 rs765355515 |
61 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA234526344 rs752776690 |
62 | H>Q | No |
ClinGen Ensembl |
|
|
CA384261950 rs1565637466 |
63 | Y>C | No |
ClinGen Ensembl |
|
|
rs759575812 CA6504129 |
66 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA384261879 rs1424770902 |
68 | E>G | No |
ClinGen gnomAD |
|
|
CA6504128 rs777173727 |
69 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA384261826 rs1480550412 |
72 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6504127 rs375001828 |
75 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375001828 CA384261802 |
75 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 75 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866220797 CA234526302 |
76 | A>V | No |
ClinGen gnomAD |
|
|
CA384261782 rs1464436471 |
78 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs371959517 CA234526283 |
79 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA234517471 rs998243954 |
82 | M>L | No |
ClinGen TOPMed |
|
|
rs759826189 CA6504105 |
82 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6504104 rs753820013 |
84 | K>E | No |
ClinGen ExAC |
|
|
CA384261656 rs1486480458 |
84 | K>I | No |
ClinGen gnomAD |
|
|
rs1486480458 CA384261660 |
84 | K>T | No |
ClinGen gnomAD |
|
|
CA6504103 rs780381754 |
85 | G>* | No |
ClinGen ExAC |
|
|
CA384261584 rs1342220039 |
90 | T>A | No |
ClinGen gnomAD |
|
|
rs1297030049 CA384261579 |
90 | T>I | No |
ClinGen gnomAD |
|
|
rs371159595 CA6504102 |
91 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761109656 CA6504101 |
91 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199806993 CA384261557 |
92 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3753176 COSM3753174 rs199806993 CA6504100 |
92 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA384261555 rs199806993 |
92 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1307635497 CA384261551 |
93 | D>N | No |
ClinGen gnomAD |
|
|
CA384261516 rs1271559886 |
95 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 95 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384261493 rs1430591084 |
96 | D>E | No |
ClinGen gnomAD |
|
|
CA6504098 rs762201532 |
97 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs762201532 CA384261489 |
97 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA384261441 rs1162691226 |
100 | H>Y | No |
ClinGen gnomAD |
|
|
rs769405327 CA6504093 |
111 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs377601066 CA6504091 |
112 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1161336982 CA384261252 |
116 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1161336982 CA384261251 |
116 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA384261211 rs1472663121 |
119 | F>S | No |
ClinGen TOPMed |
|
|
rs938409019 CA384261190 |
120 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6504090 rs757096259 |
120 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 120 | Y>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384261195 rs757096259 |
120 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs751350499 CA6504089 |
122 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1460614135 CA384261163 |
122 | E>D | No |
ClinGen TOPMed |
|
|
rs1349042065 CA384261122 |
126 | K>Q | No |
ClinGen gnomAD |
|
|
rs1288071363 CA384261119 |
126 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs755087513 CA384261108 |
127 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA6504087 rs755087513 |
127 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs754102590 CA384261089 |
129 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA6504086 rs754102590 |
129 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1291917849 CA384261062 |
131 | A>T | No |
ClinGen gnomAD |
|
|
rs766353816 CA6504085 |
132 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs907667649 CA234517354 |
134 | T>I | No |
ClinGen TOPMed |
|
|
CA6504084 rs374109577 |
134 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA234517348 rs966893724 |
136 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6504082 rs767967131 |
140 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6504081 rs373821707 |
140 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1188995096 CA384260918 COSM1361225 |
141 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6504079 rs769080287 |
143 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs146195536 CA6504078 |
145 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1216132786 CA384260828 |
147 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1484342766 CA384260807 |
148 | Y>F | No |
ClinGen TOPMed |
|
|
rs1555159665 CA384260769 |
151 | S>C | No |
ClinGen Ensembl |
|
|
rs1180932802 CA384260751 |
153 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs769397951 CA6504076 |
154 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs776303336 CA6504074 |
155 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs745421653 CA6504075 |
155 | M>V | No |
ClinGen ExAC |
|
|
rs1591881830 CA384260711 |
156 | D>N | No |
ClinGen Ensembl |
|
|
CA384260677 rs770951854 |
158 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753166630 CA234517279 |
159 | A>S | No |
ClinGen TOPMed |
|
|
rs1327957684 CA384260607 |
163 | D>E | No |
ClinGen gnomAD |
|
|
COSM1135372 CA234517267 rs954041797 |
166 | D>G | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs767608413 CA234517272 |
166 | D>N | No |
ClinGen Ensembl |
|
|
rs1565621749 CA384260546 |
167 | T>K | No |
ClinGen Ensembl |
|
|
CA6504071 rs777372872 |
168 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979766761 CA234517260 |
168 | T>I | No |
ClinGen Ensembl |
|
|
CA234517256 rs1028306585 |
170 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1028306585 CA384260506 |
170 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1273121937 CA384260434 |
174 | Q>R | No |
ClinGen gnomAD |
|
|
rs1158217802 CA384260422 |
175 | R>* | No |
ClinGen gnomAD |
|
|
rs758268350 COSM548040 CA6504070 |
175 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs758268350 CA384260419 |
175 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6504069 rs749464030 |
176 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA384260411 rs1390512624 |
176 | Y>H | No |
ClinGen TOPMed |
|
|
rs1173552397 CA384260385 |
177 | N>K | No |
ClinGen gnomAD |
|
|
rs1425266397 CA384260372 |
179 | Y>C | No |
ClinGen gnomAD |
|
|
CA6504066 rs750466367 |
181 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014136553 CA234517240 |
182 | S>N | No |
ClinGen Ensembl |
|
|
CA384260336 rs1358641215 |
184 | D>G | No |
ClinGen gnomAD |
|
|
rs891628045 CA234517238 |
185 | T>A | No |
ClinGen TOPMed |
|
|
rs1247942953 CA384260330 |
185 | T>N | No |
ClinGen gnomAD |
|
|
CA384260301 rs1487040756 |
190 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1266073535 CA384260298 |
190 | K>R | No |
ClinGen gnomAD |
|
|
rs1254581192 CA384260290 |
191 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1312920591 CA384260282 |
192 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs369918175 CA6504065 |
192 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774108405 CA234517232 |
192 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 194 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305732354 CA384260273 |
194 | L>M | No |
ClinGen gnomAD |
|
|
CA234517227 rs998170203 |
195 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1214167750 COSM938753 CA384260248 |
197 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs999593049 CA234517219 |
198 | L>S | No |
ClinGen Ensembl |
|
|
CA384260241 rs1232743080 |
199 | P>A | No |
ClinGen TOPMed |
|
|
rs764363486 CA6504062 |
200 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382667490 CA384260224 |
201 | M>T | No |
ClinGen gnomAD |
|
|
rs763416832 CA6504061 |
202 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210180625 CA384260215 |
202 | Q>L | No |
ClinGen TOPMed |
|
|
CA234517202 rs375702666 |
203 | A>T | No |
ClinGen ESP |
|
|
rs1565621452 CA384260202 |
204 | C>Y | No |
ClinGen Ensembl |
|
|
CA6504060 rs372657171 |
205 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369196958 CA234517188 |
207 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759292772 CA6504058 |
210 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
CA384260152 rs1175048547 |
211 | L>R | No |
ClinGen gnomAD |
|
|
CA6504057 rs776213713 |
214 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA234517171 rs1044129107 |
214 | A>V | No |
ClinGen Ensembl |
|
|
CA384260123 rs1591881144 |
216 | T>P | No |
ClinGen Ensembl |
|
|
CA234517166 rs770590606 |
216 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 217 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6504055 rs746905806 |
218 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA384260042 rs1171753267 |
228 | Y>C | No |
ClinGen TOPMed |
|
|
COSM1203382 rs1254512031 CA384260008 |
233 | L>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA384259969 rs1200175476 |
238 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA384259963 rs1282732489 |
239 | P>L | No |
ClinGen gnomAD |
|
|
CA384259966 rs1483732724 |
239 | P>S | No |
ClinGen gnomAD |
|
|
CA384259960 rs1341575209 |
240 | P>S | No |
ClinGen gnomAD |
|
|
rs1406987365 CA384259940 |
243 | R>M | No |
ClinGen gnomAD |
|
|
rs1328070379 CA384259938 |
243 | R>S | No |
ClinGen gnomAD |
|
|
CA384259943 rs1228076723 |
243 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA384259929 rs1310389167 |
245 | L>P | No |
ClinGen gnomAD |
|
|
rs1395235578 CA384259926 |
246 | K>Q | No |
ClinGen gnomAD |
|
|
CA6504054 rs773264577 |
247 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384259915 rs1375720982 |
247 | F>Y | No |
ClinGen gnomAD |
|
|
rs1427367061 CA384259903 |
249 | G>S | No |
ClinGen gnomAD |
|
|
rs189201166 CA6504053 |
250 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1463988273 CA384259891 |
251 | Y>H | No |
ClinGen gnomAD |
|
|
rs1381783720 CA384259873 |
253 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6504052 rs748020627 |
253 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259992039 CA384259870 |
254 | V>I | No |
ClinGen gnomAD |
|
|
rs1482815863 CA384259846 |
257 | Q>R | No |
ClinGen gnomAD |
|
|
rs756266317 CA6504050 |
258 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA384259837 rs1197616605 |
258 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1346289611 CA384259822 |
261 | P>S | No |
ClinGen TOPMed |
|
|
CA234517118 rs111717401 |
262 | S>I | No |
ClinGen TOPMed |
|
|
CA234517119 rs111717401 |
262 | S>T | No |
ClinGen TOPMed |
|
|
CA6504049 rs746105198 |
265 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs371858433 CA6504047 |
266 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384259768 rs1198669625 |
269 | Y>* | No |
ClinGen Ensembl |
|
|
rs1407618214 CA384259761 |
270 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA384259762 rs1407618214 |
270 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6504042 rs765700922 |
272 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1361224 CA6504043 rs535055963 |
272 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 276 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384259719 rs1472420277 |
277 | L>F | No |
ClinGen gnomAD |
|
|
rs1591880495 CA384259691 |
281 | E>D | No |
ClinGen Ensembl |
|
|
CA384259682 rs1449914524 |
282 | N>K | No |
ClinGen gnomAD |
|
|
CA384259662 rs1335321737 |
286 | V>M | No |
ClinGen gnomAD |
|
|
rs1160252217 CA384259651 |
287 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 288 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384259633 rs1274823029 |
290 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 294 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384259557 rs1279737025 |
301 | Q>K | No |
ClinGen gnomAD |
|
|
CA384258300 rs1442236654 |
303 | Y>C | No |
ClinGen TOPMed |
|
|
rs755459831 CA6504022 |
304 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM3721455 COSM3721453 CA6504020 rs576115388 |
305 | R>C | Variant assessed as Somatic; 4.646e-05 impact. upper_aerodigestive_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA6504019 rs760262988 |
305 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1475006509 CA384258271 |
308 | T>A | No |
ClinGen gnomAD |
|
|
rs766954167 CA6504017 |
311 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1317470670 CA384258242 |
312 | G>D | No |
ClinGen gnomAD |
|
|
rs1331642132 CA384258246 |
312 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA234533284 rs372625067 |
313 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs761798974 CA6504016 |
315 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs553411725 CA234533273 |
317 | L>S | No |
ClinGen gnomAD |
|
|
CA6504015 rs368838927 |
317 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 328 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158943978 CA384258123 |
330 | L>V | No |
ClinGen gnomAD |
|
|
rs1340137868 CA384258118 |
331 | P>A | No |
ClinGen gnomAD |
|
|
CA234533234 rs754400722 |
331 | P>L | No |
ClinGen Ensembl |
|
|
rs1313687077 CA384258113 |
332 | A>T | No |
ClinGen gnomAD |
|
|
rs1368798454 CA384258094 |
335 | L>P | No |
ClinGen gnomAD |
|
|
CA6504008 rs138735047 |
336 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384258080 rs1409363750 |
337 | F>Y | No |
ClinGen gnomAD |
|
|
rs1471677090 CA384258069 |
339 | D>V | No |
ClinGen gnomAD |
|
|
CA6504006 rs748659808 |
339 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1256484402 CA384258059 |
340 | A>V | No |
ClinGen gnomAD |
|
|
CA384258044 rs1216704650 |
343 | P>S | No |
ClinGen TOPMed |
|
|
CA384258039 rs1277416981 |
344 | Y>H | No |
ClinGen TOPMed |
|
|
rs755369913 CA6504004 |
346 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229651937 CA384258008 |
348 | L>R | No |
ClinGen TOPMed |
|
|
rs375149227 CA234533187 |
349 | Q>H | No |
ClinGen ESP |
|
|
rs1254506163 CA384258003 |
349 | Q>R | No |
ClinGen TOPMed |
|
|
rs780310275 CA6504002 |
352 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA384257974 rs1275683455 |
353 | G>E | No |
ClinGen gnomAD |
|
|
rs868192665 CA234533181 |
354 | T>A | No |
ClinGen Ensembl |
|
|
COSM3981000 rs370711395 COSM3980998 CA6504000 |
356 | R>C | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs767052027 CA6503999 |
356 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503998 rs761356688 |
358 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA384257928 rs1260048347 |
361 | L>F | No |
ClinGen TOPMed |
|
|
rs1565600795 CA384257908 |
364 | E>K | No |
ClinGen Ensembl |
|
|
CA6503981 rs780757963 |
370 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6503980 rs756925960 |
372 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1291794370 CA384257823 |
374 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA384257817 rs1265393590 |
375 | H>D | No |
ClinGen gnomAD |
|
|
CA6503979 rs371484096 |
375 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275261798 CA384257789 |
378 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 383 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384257755 rs1440755172 |
383 | F>S | No |
ClinGen TOPMed |
|
|
rs763600976 CA6503978 |
387 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA234527396 rs1032843258 |
388 | N>S | No |
ClinGen gnomAD |
|
|
CA384257711 rs1593202172 |
389 | K>N | No |
ClinGen Ensembl |
|
|
rs1209758315 CA384257700 |
391 | D>G | No |
ClinGen TOPMed |
|
|
rs1462790702 CA384257694 |
392 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 394 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA234527395 rs773458840 |
396 | L>I | No |
ClinGen gnomAD |
|
|
rs969868049 CA234527386 |
398 | E>D | No |
ClinGen TOPMed |
|
|
CA6503977 rs758272928 |
398 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1217687306 CA384257608 |
404 | G>V | No |
ClinGen gnomAD |
|
|
rs765075617 CA6503975 |
406 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA6503973 rs377050766 |
408 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6503971 rs762155448 |
410 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA384257572 rs1260466432 |
410 | S>I | No |
ClinGen gnomAD |
|
|
CA6503969 rs768917774 |
412 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384257562 rs1593202000 |
412 | H>Y | No |
ClinGen Ensembl |
|
|
CA384257555 rs1479825442 |
413 | C>S | No |
ClinGen Ensembl |
|
|
CA6503967 rs775905934 |
417 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 420 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370204684 COSM3792534 COSM3792536 CA384257492 |
421 | K>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA384257482 rs1304039737 |
423 | M>V | No |
ClinGen gnomAD |
|
|
CA6503966 rs770176623 |
426 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781643272 CA6503965 |
430 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781643272 CA6503964 |
430 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 431 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA234527294 rs756838179 |
432 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503963 rs756838179 |
432 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA234527288 rs748248340 |
432 | K>R | No |
ClinGen Ensembl |
|
|
CA6503962 rs746678542 |
434 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs757968383 CA6503960 |
435 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA234527275 rs997490301 |
435 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1196094546 CA384257397 |
436 | N>D | No |
ClinGen gnomAD |
|
|
rs1593201813 CA384257393 |
436 | N>S | No |
ClinGen Ensembl |
|
|
CA384257388 rs1261490499 |
437 | V>L | No |
ClinGen gnomAD |
|
|
CA6503957 rs754961808 |
439 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503958 rs754961808 |
439 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559754069 CA6503956 |
440 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384257367 rs901803499 |
440 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs766278817 CA6503955 |
440 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1282512527 CA384257355 |
442 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs369020231 CA6503952 CA6503951 |
444 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751900245 CA6503953 |
444 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503954 rs574608465 |
444 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6503950 rs775662347 |
445 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384257317 rs1363699788 |
447 | L>F | No |
ClinGen gnomAD |
|
|
rs1214684838 CA384257313 |
448 | L>P | No |
ClinGen TOPMed |
|
|
rs760095951 CA6503948 |
450 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA234527221 rs1005124975 |
451 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1460966809 CA384257269 |
455 | A>T | No |
ClinGen gnomAD |
|
|
CA6503946 rs771340985 |
455 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA234527212 rs887980717 |
456 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA234527204 rs776650601 |
456 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA6503945 rs776650601 |
456 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6503944 rs777441776 |
458 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747559716 CA6503942 |
461 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503943 rs747559716 |
461 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778512678 CA6503941 |
462 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA6503939 rs753825505 |
463 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503938 rs572676277 |
463 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1228003971 CA384257220 |
464 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA384257218 rs1049238530 |
464 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1049238530 CA234527173 |
464 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384257202 rs1291143921 |
467 | A>T | No |
ClinGen gnomAD |
|
|
CA6503937 rs75045279 |
468 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1319969407 CA384257198 |
468 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs201388384 CA6503936 |
469 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384257185 rs1435623452 |
470 | K>E | No |
ClinGen TOPMed |
|
|
rs34493162 CA6503935 |
470 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 471 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238322456 CA384257162 |
473 | L>F | No |
ClinGen TOPMed |
|
|
rs550047543 CA6503933 |
474 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs927050341 CA234527112 |
475 | A>V | No |
ClinGen Ensembl |
|
|
CA6503931 rs759948212 |
476 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1164585782 CA384257132 |
478 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA384257110 rs1265653635 |
481 | D>G | No |
ClinGen TOPMed |
|
|
CA384257098 rs1250447251 |
483 | D>N | No |
ClinGen Ensembl |
|
|
CA6503928 rs1056320 VAR_040077 |
487 | H>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1194773453 CA384257067 |
487 | H>R | No |
ClinGen TOPMed |
|
|
CA234527061 rs773587845 |
490 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437341049 CA384257046 |
490 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1481543398 CA384257023 |
493 | L>P | No |
ClinGen gnomAD |
|
|
rs771580509 CA6503924 |
496 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA384256999 rs1403356877 |
497 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1335118439 CA384256984 |
499 | N>D | No |
ClinGen gnomAD |
|
|
rs957293206 CA234527002 |
502 | L>F | No |
ClinGen Ensembl |
|
|
CA6503921 rs768268391 |
503 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA384256930 rs1334691730 |
507 | A>T | No |
ClinGen gnomAD |
|
|
rs1453949825 CA384256927 |
507 | A>V | No |
ClinGen TOPMed |
|
|
CA6503920 rs183349020 |
509 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs536783187 COSM1361221 CA234526995 |
509 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
| TCGA novel | 510 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 511 | T>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765226107 CA6503913 |
522 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6503912 rs376475605 |
523 | Q>P | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 526 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472471097 CA384256788 |
527 | D>G | No |
ClinGen gnomAD |
|
|
CA384256792 rs1212888435 |
527 | D>N | No |
ClinGen gnomAD |
|
|
rs766821895 CA384256783 |
528 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766821895 CA6503910 |
528 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565591922 CA384256768 |
530 | S>T | No |
ClinGen Ensembl |
|
|
CA384256754 rs1235958657 |
531 | W>C | No |
ClinGen gnomAD |
|
|
rs542580810 CA234526947 |
534 | N>S | No |
ClinGen gnomAD |
|
|
rs773495469 CA6503908 |
535 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA384256675 rs1369493639 |
542 | D>E | No |
ClinGen gnomAD |
|
|
rs1593189153 CA384256043 |
549 | D>A | No |
ClinGen Ensembl |
|
|
rs1419981341 CA384256029 |
551 | P>S | No |
ClinGen gnomAD |
|
|
rs775084208 CA6503877 |
554 | Y>H | No |
ClinGen ExAC |
|
|
CA6503876 rs769488013 |
554 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA384256000 rs1416680550 |
556 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1188111778 CA384255984 |
558 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 559 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6503875 rs769336079 |
560 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6503874 rs187370070 |
560 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 563 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 563 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260456688 CA384255928 |
566 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6503873 rs770609336 |
566 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA384255915 rs1334490486 |
568 | A>S | No |
ClinGen gnomAD |
|
|
rs1230200992 CA384255906 |
569 | T>I | No |
ClinGen gnomAD |
|
|
CA234524021 rs1055174171 |
571 | I>T | No |
ClinGen TOPMed |
|
|
CA234524018 rs747777028 |
572 | D>G | No |
ClinGen Ensembl |
|
|
CA234524010 rs981459549 |
573 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA384255870 rs1593188948 |
574 | K>N | No |
ClinGen Ensembl |
|
|
CA384255867 rs1441465206 |
575 | I>F | No |
ClinGen gnomAD |
|
|
rs372831225 CA6503871 |
575 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1333172536 CA384255852 |
577 | S>T | No |
ClinGen gnomAD |
|
|
rs1459661218 CA384255829 |
580 | E>K | No |
ClinGen gnomAD |
|
|
rs1002622963 CA234524003 |
582 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 583 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780091583 CA6503868 |
587 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201039344 COSM938747 CA6503869 |
587 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6503867 rs756250147 |
589 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs750910741 CA6503866 |
592 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1176108312 CA384255750 |
592 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA234523946 rs1013606242 |
594 | D>G | No |
ClinGen TOPMed |
|
|
CA384255740 rs1477924907 |
594 | D>N | No |
ClinGen TOPMed |
|
|
rs781690752 CA6503865 |
595 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503864 rs757740273 |
597 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1319449432 CA384255692 |
601 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA384255679 rs1315336718 |
603 | A>T | No |
ClinGen gnomAD |
|
|
CA6503863 rs751889421 |
604 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1311405321 COSM185361 CA384255653 |
607 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA384255645 rs1565586900 |
608 | T>I | No |
ClinGen Ensembl |
|
|
CA384255644 rs1438569340 |
609 | S>T | No |
ClinGen gnomAD |
|
|
rs34129725 CA6503861 |
610 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374898622 CA6503862 |
610 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA234523909 rs914100974 |
611 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1343067195 CA384255622 |
612 | Q>R | No |
ClinGen gnomAD |
|
|
CA6503860 rs752466360 |
617 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384255573 rs1340933218 |
619 | E>Q | No |
ClinGen TOPMed |
|
|
rs982200457 COSM1361219 CA234521299 |
621 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6503845 rs757728833 |
623 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA384255196 rs1368639961 |
623 | S>P | No |
ClinGen TOPMed |
|
|
CA384255189 rs1178756093 |
624 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6503844 rs199598605 |
624 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778280035 CA6503843 |
625 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503840 rs764932809 |
633 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1210244427 CA384255109 |
635 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA604196085 rs1255564025 |
635 | A>S | No |
ClinGen gnomAD |
|
|
rs1210244427 CA384255107 |
635 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1347109629 CA384255105 |
636 | I>V | No |
ClinGen gnomAD |
|
|
CA384255081 rs1256492193 |
639 | H>R | No |
ClinGen gnomAD |
|
|
rs759292857 CA6503839 |
640 | L>Q | No |
ClinGen ExAC |
|
| TCGA novel | 645 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377460577 CA6503836 |
647 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384255000 rs1310590564 |
651 | E>K | No |
ClinGen gnomAD |
|
|
CA234521250 rs1000296706 |
660 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 660 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384254928 rs1171811242 |
661 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA384254926 rs1171811242 |
661 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 663 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA234521245 rs994305513 |
664 | A>T | No |
ClinGen Ensembl |
|
|
CA6503828 rs770983656 |
665 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1593176899 CA384254889 |
667 | P>S | No |
ClinGen Ensembl |
|
|
rs747521870 CA6503827 |
668 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384254884 rs747521870 |
668 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384254879 rs1486052245 |
669 | S>G | No |
ClinGen gnomAD |
|
|
rs778476104 CA6503826 |
669 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs778476104 CA234521221 |
669 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs758995325 CA6503825 |
670 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA384254139 rs1179746239 COSM1203379 |
672 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6503813 rs759799944 |
672 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6503812 rs759799944 |
672 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503811 rs371067623 |
674 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773455309 CA6503809 |
676 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773455309 CA6503808 |
676 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771022934 COSM1361218 CA6503810 |
676 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA384254101 rs1270971080 |
678 | A>G | No |
ClinGen gnomAD |
|
|
CA384254083 rs1356592045 |
681 | Q>R | No |
ClinGen gnomAD |
|
|
CA6503807 rs748678281 |
682 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6503806 rs748678281 |
682 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs779402495 CA6503805 COSM1717610 |
682 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 683 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375599938 CA6503803 |
686 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1449601726 CA384254051 |
686 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6503802 rs372668455 |
687 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1203378 CA384254041 rs1325635697 |
688 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs369424650 CA234515945 |
688 | R>H | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA384254043 rs1325635697 |
688 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6503801 rs755824758 |
689 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6503800 rs749871307 |
690 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6503799 rs767030673 |
691 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1380956215 CA384254012 |
692 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs542577550 CA6503796 |
693 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542577550 CA6503797 |
693 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6503798 rs757177407 |
693 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs762706484 CA6503795 |
694 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1291547840 CA384253970 |
699 | D>G | No |
ClinGen gnomAD |
|
|
rs139268406 CA6503792 |
700 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1202949433 CA384253963 |
700 | L>S | No |
ClinGen gnomAD |
|
|
CA6503756 rs767797525 |
703 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1473986302 CA384252920 |
704 | Y>D | No |
ClinGen gnomAD |
|
|
rs751537943 CA384252911 |
705 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503754 rs751537943 |
705 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503753 rs764293602 |
709 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA384252867 rs1178517907 |
711 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6503751 rs776105684 |
713 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593134023 CA384252847 |
714 | N>I | No |
ClinGen Ensembl |
|
| TCGA novel | 714 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 714 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746674411 CA6503746 |
723 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1307031389 CA384252777 |
725 | P>A | No |
ClinGen gnomAD |
|
|
rs771675059 CA6503744 |
726 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1333100183 CA384252747 |
730 | Q>E | No |
ClinGen gnomAD |
|
|
rs778958103 CA6503742 |
730 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384252737 rs1348913293 |
731 | T>I | No |
ClinGen gnomAD |
|
|
rs749050265 CA6503740 |
732 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 737 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6503738 rs757541542 |
738 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384252687 rs757541542 |
738 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764050149 CA6503736 |
743 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs758558953 CA6503735 |
745 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA384252137 rs1400102381 |
757 | H>R | No |
ClinGen gnomAD |
|
|
rs756014330 CA6503721 |
757 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371190076 CA234511982 |
759 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371190076 CA6503719 |
759 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467785378 CA384252090 |
764 | H>L | No |
ClinGen TOPMed |
|
|
rs1426999892 CA384252073 |
767 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1478863675 CA384252046 |
771 | G>S | No |
ClinGen gnomAD |
|
|
rs1593129584 CA384252011 |
776 | T>P | No |
ClinGen Ensembl |
|
|
CA384251991 rs1211936427 |
779 | A>T | No |
ClinGen gnomAD |
|
|
CA384251952 rs1315732752 |
784 | L>P | No |
ClinGen gnomAD |
|
|
rs12371196 CA234511941 |
786 | E>D | No |
ClinGen Ensembl |
|
|
CA6503708 rs539737071 |
788 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761374229 CA6503709 |
788 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384251903 rs1309937713 |
791 | H>Q | No |
ClinGen gnomAD |
|
|
rs890197497 CA234511929 |
795 | V>L | No |
ClinGen TOPMed |
|
|
CA6503695 rs537317490 |
807 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200952512 CA6503692 |
811 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200952512 CA6503693 |
811 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384251752 rs1268059120 |
811 | D>Y | No |
ClinGen Ensembl |
|
|
CA384251717 rs1236481915 |
816 | Q>K | No |
ClinGen TOPMed |
|
|
CA384251709 rs1388811090 |
817 | E>K | No |
ClinGen gnomAD |
|
|
rs1382482170 CA384251689 |
819 | L>P | No |
ClinGen TOPMed |
|
|
CA384251682 rs1458495302 |
820 | A>G | No |
ClinGen gnomAD |
|
|
COSM938740 CA384251629 rs1375658865 |
827 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1197746420 CA384251618 |
828 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1237808996 COSM3792526 CA384251607 |
830 | R>K | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA234507495 rs923339929 |
832 | K>R | No |
ClinGen TOPMed |
|
|
rs768887564 CA6503675 |
833 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1206745441 CA384251571 |
835 | S>L | No |
ClinGen TOPMed |
|
|
rs749326383 CA6503674 |
835 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868509331 CA234507475 |
836 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
CA234507479 rs868509331 |
836 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA384251553 rs1234324477 |
838 | M>I | No |
ClinGen gnomAD |
|
|
CA6503672 rs199743114 |
838 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1333018431 CA384251547 CA384251546 |
839 | L>F | No |
ClinGen gnomAD |
|
|
CA384251538 rs1276436520 |
841 | T>A | No |
ClinGen gnomAD |
|
|
CA384251536 rs750961310 |
841 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503671 rs750961310 COSM1361217 |
841 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA384251528 rs1402319501 |
843 | R>G | No |
ClinGen gnomAD |
|
|
rs757611813 CA6503669 |
843 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1171781218 CA384251508 |
846 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA384251506 rs1364943031 |
846 | L>P | No |
ClinGen TOPMed |
|
|
rs369894487 CA6503668 |
847 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384251503 rs1478175275 |
847 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1190995165 CA384251491 |
848 | Q>H | No |
ClinGen gnomAD |
|
|
rs763803906 CA6503667 |
850 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551766042 CA234507444 |
850 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6503649 rs758112202 |
853 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1275258672 CA384251424 |
856 | M>V | No |
ClinGen gnomAD |
|
|
CA6503647 rs368918017 |
857 | S>G | No |
ClinGen ESP ExAC TOPMed |
|
|
rs974041496 CA234506504 |
857 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6503643 rs760610677 |
867 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375895988 CA6503644 |
867 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6503640 rs763131687 |
869 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1172018497 CA384251331 |
870 | I>L | No |
ClinGen gnomAD |
|
|
rs775625923 CA6503639 |
874 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA6503638 rs770076747 |
876 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1164352656 CA384251279 |
878 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA384251274 rs1446963127 |
879 | L>V | No |
ClinGen gnomAD |
|
|
rs1031348286 CA234506450 |
880 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6503636 rs776780765 |
887 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA384251209 rs1234837307 |
888 | S>C | No |
ClinGen gnomAD |
|
|
rs771511708 CA6503635 |
888 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1264915654 CA384251206 |
889 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs747578933 CA6503634 |
889 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6503633 rs200931234 |
893 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA234506430 rs200931234 |
893 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6503631 rs199566202 |
894 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1239184355 CA384251173 |
894 | K>R | No |
ClinGen gnomAD |
|
|
CA384256363 rs1366433463 |
895 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6503610 rs776565080 |
897 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA234525993 rs771205202 |
899 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6503609 rs771205202 |
899 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1200226104 CA384256308 |
904 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA384256307 rs1276257487 |
904 | R>H | No |
ClinGen TOPMed |
|
| TCGA novel | 904 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM160394 rs1057044419 CA234525983 |
906 | E>K | NS Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1239250070 CA384256271 |
909 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 911 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 912 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA234525976 rs749147860 |
912 | F>S | No |
ClinGen Ensembl |
|
|
CA6503607 rs773902703 |
913 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773902703 CA384256243 |
913 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866738069 CA234525964 |
914 | Y>* | No |
ClinGen Ensembl |
|
|
rs1201808461 CA384256184 |
922 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA234525950 rs924706929 |
923 | D>G | No |
ClinGen TOPMed |
|
|
CA384256138 rs1476883114 |
928 | T>S | No |
ClinGen gnomAD |
|
|
CA384256131 rs1262488983 |
929 | S>N | No |
ClinGen gnomAD |
|
|
rs779337210 CA6503604 |
934 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA384255539 rs1366729879 COSM1628554 |
936 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6503578 rs777404042 |
937 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777404042 CA384255529 |
937 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755715227 CA6503574 |
939 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6503573 rs750469095 |
941 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1456240975 CA384255506 |
941 | V>L | No |
ClinGen gnomAD |
|
|
CA384255498 rs1174275084 |
942 | I>T | No |
ClinGen TOPMed |
|
|
rs767691910 CA6503572 |
943 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs767691910 CA384255495 |
943 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA234522770 rs867692807 |
944 | P>L | No |
ClinGen Ensembl |
|
|
rs762222400 CA6503571 |
945 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1317672464 CA384255471 |
946 | K>N | No |
ClinGen gnomAD |
|
|
CA384255445 rs1238462805 |
950 | N>S | No |
ClinGen gnomAD |
|
|
CA234522766 rs966045491 |
951 | A>T | No |
ClinGen Ensembl |
|
|
rs1329802421 CA384255421 |
954 | T>A | No |
ClinGen gnomAD |
|
|
CA6503570 rs774962523 |
955 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA384255412 rs774962523 |
955 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA234522762 rs908143033 |
961 | V>A | No |
ClinGen TOPMed |
|
|
rs1385809305 CA384255372 |
961 | V>L | No |
ClinGen gnomAD |
|
|
CA384255354 rs1165348545 |
964 | E>* | No |
ClinGen gnomAD |
|
|
CA384255351 rs1437594947 |
964 | E>V | No |
ClinGen gnomAD |
|
|
CA384255341 rs1298996312 |
966 | G>R | No |
ClinGen TOPMed |
|
|
CA6503567 rs775839536 |
967 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6503566 rs142356613 |
970 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384255308 CA6503564 rs776117446 |
971 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503565 rs377602151 |
971 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6503562 rs746901892 |
975 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6503561 rs747597075 |
979 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 980 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758294635 CA6503560 |
983 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1402265453 CA384254844 |
984 | C>F | No |
ClinGen gnomAD |
|
|
rs1175285995 CA384254784 |
993 | V>A | No |
ClinGen gnomAD |
|
|
CA384254786 rs1439236752 |
993 | V>L | No |
ClinGen TOPMed |
|
|
rs890438326 CA234521528 |
995 | I>V | No |
ClinGen TOPMed |
|
|
CA234521526 rs61918604 |
996 | G>S | No |
ClinGen Ensembl |
|
|
CA6503541 rs538024926 |
1004 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA234521516 rs929400226 |
1005 | K>N | No |
ClinGen TOPMed |
|
|
rs569004114 CA6503540 |
1005 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1016676585 CA234521512 |
1008 | V>M | No |
ClinGen Ensembl |
|
|
rs1593061052 CA384254683 |
1009 | D>H | No |
ClinGen Ensembl |
|
|
CA384254668 rs1565541724 |
1011 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 1014 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243228485 CA384254623 |
1017 | I>V | No |
ClinGen gnomAD |
|
|
CA384254612 rs1593061017 |
1018 | T>I | No |
ClinGen Ensembl |
|
|
CA384254604 rs1268757139 |
1020 | H>D | No |
ClinGen TOPMed |
|
|
rs746065127 CA6503539 |
1020 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs781436606 CA6503538 |
1021 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384254597 rs781436606 |
1021 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472090989 CA384254563 |
1024 | F>Y | No |
ClinGen gnomAD |
|
|
rs1470489553 CA384254551 |
1026 | C>R | No |
ClinGen TOPMed |
|
|
rs151059114 CA234521087 |
1028 | R>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1462895198 CA384254532 |
1029 | W>G | No |
ClinGen gnomAD |
|
|
rs888726639 CA234521082 |
1033 | G>D | No |
ClinGen gnomAD |
|
|
COSM3721451 rs1357156589 CA384254490 |
1035 | D>G | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA384254475 rs1314177853 |
1037 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs754181092 CA6503527 |
1039 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA384254412 rs1328886505 |
1046 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6503526 rs774928242 |
1049 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384254383 rs1330276007 |
1051 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs372149130 CA6503524 |
1051 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1202357170 CA384254359 |
1054 | E>D | No |
ClinGen TOPMed |
|
|
rs774479195 CA6503521 |
1056 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768735757 CA6503520 |
1057 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176898617 CA384254329 |
1059 | Q>R | No |
ClinGen gnomAD |
|
|
CA6503518 rs779727658 |
1061 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368956997 CA6503519 |
1061 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA234521034 rs913625090 |
1062 | T>A | No |
ClinGen Ensembl |
|
|
rs373674194 CA6503517 |
1063 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384254303 rs1490193973 |
1064 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1066 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1387244151 CA384254273 |
1068 | S>T | No |
ClinGen TOPMed |
|
|
rs989124346 CA234521030 |
1071 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA234521025 rs957681917 |
1072 | A>P | No |
ClinGen Ensembl |
|
|
CA384254227 rs1222887024 |
1075 | L>W | No |
ClinGen gnomAD |
|
|
rs777881908 CA6503515 |
1076 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA384254214 rs1397368954 |
1077 | I>T | No |
ClinGen TOPMed |
|
|
rs1433712641 CA384254199 |
1079 | S>L | No |
ClinGen gnomAD |
|
|
CA384254177 rs1344249956 |
1083 | K>R | No |
ClinGen gnomAD |
|
|
CA384254167 rs1427097948 |
1084 | N>K | No |
ClinGen gnomAD |
|
|
CA234521008 rs559926838 |
1085 | N>K | No |
ClinGen Ensembl |
|
|
rs1407343028 CA384253841 |
1087 | P>L | No |
ClinGen gnomAD |
|
|
CA384253845 rs1283361909 |
1087 | P>T | No |
ClinGen gnomAD |
|
|
CA234518943 rs748133836 |
1088 | N>S | No |
ClinGen gnomAD |
|
|
CA384253829 rs1202976099 |
1089 | A>G | No |
ClinGen TOPMed |
|
|
CA6503504 COSM1203377 rs377615526 |
1090 | G>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA384253821 rs1431974444 |
1091 | Q>E | No |
ClinGen gnomAD |
|
|
rs375182929 CA6503503 |
1093 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA384253785 rs1174289238 |
1096 | I>V | No |
ClinGen gnomAD |
|
|
CA234518935 rs867484710 |
1097 | G>* | No |
ClinGen Ensembl |
|
|
rs1469475999 CA384253764 |
1099 | A>S | No |
ClinGen gnomAD |
|
|
rs764066014 CA6503501 |
1106 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6503492 rs778973501 |
1119 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503491 rs778973501 |
1119 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503490 rs371088900 |
1122 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1170580941 CA384253574 |
1125 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs568887062 CA234518840 |
1142 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs750821475 CA6503486 |
1143 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6503485 rs767237665 |
1143 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA384253426 rs1250260222 |
1146 | H>Q | No |
ClinGen gnomAD |
|
|
rs1205877274 CA384253413 |
1148 | N>S | No |
ClinGen gnomAD |
|
|
rs1313488824 CA384253364 |
1154 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA384253360 rs1472605529 |
1155 | I>T | No |
ClinGen gnomAD |
|
|
rs200504562 CA6503482 |
1155 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6503470 rs202157086 |
1156 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1290224014 CA384253269 |
1166 | D>E | No |
ClinGen gnomAD |
|
|
rs1222322509 CA384253268 |
1167 | Q>E | No |
ClinGen gnomAD |
|
|
CA384253261 rs1360687969 |
1167 | Q>H | No |
ClinGen gnomAD |
|
|
rs1294397539 CA384253256 |
1168 | I>T | No |
ClinGen gnomAD |
|
|
rs889838838 COSM938737 CA234517700 |
1169 | L>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA384253244 rs1282663347 |
1170 | D>G | No |
ClinGen TOPMed |
|
|
rs1237210635 CA384253248 |
1170 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1225853225 CA384253223 |
1173 | D>Y | No |
ClinGen TOPMed |
|
|
CA384253205 rs1343650378 |
1175 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs746167939 CA6503469 |
1175 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA384253170 rs1301233490 |
1180 | S>L | No |
ClinGen gnomAD |
|
|
CA384253174 rs1319432344 |
1180 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA234517696 rs75339388 |
1182 | C>* | No |
ClinGen Ensembl |
|
|
rs756967715 CA6503467 |
1184 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384253148 rs1593031943 |
1184 | T>P | No |
ClinGen Ensembl |
|
|
rs751299333 CA6503466 |
1185 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs763677427 CA6503465 |
1187 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs375729543 CA384253115 |
1188 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1188 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473294566 CA384253113 |
1189 | V>I | No |
ClinGen gnomAD |
|
|
CA384253095 rs1266132093 |
1191 | A>G | No |
ClinGen gnomAD |
|
|
CA234517675 rs921427193 |
1191 | A>S | No |
ClinGen Ensembl |
|
|
CA6503463 rs752287397 |
1192 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1490647726 CA384253049 |
1198 | N>K | No |
ClinGen gnomAD |
|
|
rs1227196648 CA384253053 |
1198 | N>Y | No |
ClinGen gnomAD |
|
|
rs765021778 CA6503462 |
1199 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA384253015 rs1261537159 |
1203 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1208 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs559061851 CA6503460 |
1211 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559061851 CA384252961 |
1211 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384252601 COSM256751 rs1488658943 |
1216 | R>C | ovary large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6503438 rs372569180 |
1216 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1469873307 CA384252577 |
1220 | Q>R | No |
ClinGen gnomAD |
|
|
rs1166725483 CA384252511 |
1229 | P>R | No |
ClinGen gnomAD |
|
|
rs763250019 CA384252496 |
1232 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA6503436 rs763250019 |
1232 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA234517053 rs937167914 |
1233 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6503434 rs772515330 |
1233 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772515330 CA6503435 |
1233 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503433 rs760100573 COSM3359701 |
1236 | E>D | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs777232328 CA6503432 |
1237 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA384252454 rs1404768135 |
1238 | S>T | No |
ClinGen gnomAD |
|
|
rs747314854 CA6503430 |
1239 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA384252432 rs1359578020 |
1242 | R>Q | No |
ClinGen TOPMed |
|
|
CA384252423 rs1194043623 |
1243 | D>E | No |
ClinGen gnomAD |
|
|
rs778218082 CA6503429 |
1244 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503428 rs771606862 |
1244 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747897711 CA6503427 |
1245 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs201506251 CA6503426 |
1248 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6503425 rs754529686 |
1250 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA384252378 rs1275320996 |
1251 | I>V | No |
ClinGen TOPMed |
|
|
CA234517016 COSM289064 rs981331087 |
1252 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs369858605 COSM1299316 CA6503424 |
1252 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1253 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6503423 rs779924694 |
1253 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1254 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1254 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767413612 CA384252339 |
1257 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs750126815 CA6503421 |
1257 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA384252323 rs1019923911 |
1259 | D>E | No |
ClinGen TOPMed |
|
|
CA384252303 rs1384987756 |
1262 | I>M | No |
ClinGen gnomAD |
|
|
rs982042734 CA234516963 |
1262 | I>V | No |
ClinGen TOPMed |
|
|
rs1473880292 CA384252295 |
1264 | L>V | No |
ClinGen gnomAD |
|
|
rs1181209858 CA384252265 |
1269 | I>L | No |
ClinGen gnomAD |
|
|
rs753015024 CA6503418 |
1271 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6503417 rs765402067 |
1273 | D>E | No |
ClinGen ExAC gnomAD |
No associated diseases with Q6ZUT9
10 regional properties for Q6ZUT9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PLAT/LH2 domain | 936 - 1044 | IPR001024 |
| domain | cDENN domain | 187 - 375 | IPR001194 |
| domain | RUN domain | 772 - 932 | IPR004012-1 |
| domain | RUN domain | 1118 - 1267 | IPR004012-2 |
| domain | dDENN domain | 498 - 592 | IPR005112 |
| domain | uDENN domain | 18 - 120 | IPR005113 |
| domain | Tripartite DENN domain | 39 - 581 | IPR037516 |
| domain | DENN domain-containing protein 5A/B, PLAT/LH2 domain | 936 - 1044 | IPR047277 |
| domain | DENN domain-containing protein 5B, second RUN domain | 1091 - 1269 | IPR047292 |
| domain | DENN domain-containing protein 5B, first RUN domain | 727 - 932 | IPR047293 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
2 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. |
| small GTPase binding | Binding to a small monomeric GTPase. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of triglyceride transport | Any process that activates or increases the frequency, rate or extent of triglyceride transport. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O95248 | SBF1 | Myotubularin-related protein 5 | Homo sapiens (Human) | PR |
| Q6IQ26 | DENND5A | DENN domain-containing protein 5A | Homo sapiens (Human) | PR |
| Q6PAL8 | Dennd5a | DENN domain-containing protein 5A | Mus musculus (Mouse) | PR |
| A2RSQ0 | Dennd5b | DENN domain-containing protein 5B | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGSCAAPGP | GSGSSPAACR | FAHYFVLCGI | DADSGLEPDE | LAGENFDQSP | LRRTFKSKVL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AHYPQNIEWN | PFDQDAVNML | CMPKGLSFRT | QTDNKDPQFH | SFIITREDGS | RTYGFVLTFY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EEVTSKQICT | AMQTLYQMHN | AEHYSSVYAS | SSCSMDSLAS | SLDEGDTTSL | LKLQRYNSYD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ISRDTLYVSK | SICLITPLPF | MQACKKFLIQ | LYKAVTSQQP | PPLPLESYIH | NILYEVPLPP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PGRSLKFYGV | YEPVICQRPG | PSELPLSDYP | LREAFELLGL | ENLVQVFTCV | LLEMQILLYS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QDYQRLMTVA | EGITTLLFPF | QWQHVYVPIL | PASLLHFLDA | PVPYLMGLQS | KEGTDRSKLE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LPQEANLCFV | DIDNHFIELP | EEFPQFPNKV | DFIQELSEVL | VQFGIPPEGS | LHCSESTSKL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KNMVLKDLVN | DKKNGNVCTN | NISMYELLKG | NETIARLQAL | AKRTGVAVEK | MDLSASLGEK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DKDLKLHCEE | AELRDYQLNV | QLREVFANRF | TQMFADYEAF | VIQTAQDMES | WLTNREQMQN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FDKASFLSDQ | PEPYLPFLSR | FIETQMFATF | IDNKIMSQWE | EKDPLLRVFD | TRIDKIRLYN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VRAPTLRTSI | YQKCSTLKEA | AQSIEQRLMK | MDHTAIHPHL | LDMKIGQGKY | EQGFFPKLQS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DVLATGPTSN | NRWVSRSATA | QRRKERLRQH | SEHVGLDNDL | REKYMQEARS | LGKNLRQPKL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SDLSPAVIAQ | TNCKFVEGLL | KECRMKTKRM | LVEKMGHEAV | ELGHGEANIT | GLEENTLIAS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LCDLLERIWS | HGLQVKQGKS | ALWSHLIQFQ | DREEKQEHLA | ESPVALGPER | RKSDSGVMLP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TLRVSLIQDM | RHIQNMSEIK | TDVGRARAWI | RLSLEKKLLS | QHLKQLLSNQ | PLTKKLYKRY |
| 910 | 920 | 930 | 940 | 950 | 960 |
| AFLRCEEERE | QFLYHLLSLN | AVDYFCFTSV | FTTIMIPYRS | VIIPIKKLSN | AIITSNPWIC |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| VSGELGDTGV | MQIPKNLLEM | TFECQNLGKL | TTVQIGHDNS | GLLAKWLVDC | VMVRNEITGH |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| TYRFPCGRWL | GKGIDDGSLE | RILIGELMTS | ASDEDLVKQC | RTPPQQKSPT | TARRLSITSL |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| TGKNNKPNAG | QIQEGIGEAV | NNIVKHFHKP | EKERGSLTVL | LCGENGLVAA | LEQVFHHGFK |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| SARIFHKNVF | IWDFIEKVVA | YFETTDQILD | NEDDVLIQKS | SCKTFCHYVN | AINTAPRNIG |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| KDGKFQILVC | LGTRDRLLPQ | WIPLLAECPA | ITRMYEESAL | LRDRMTVNSL | IRILQTIQDF |
| 1270 | |||||
| TIVLEGSLIK | GVDV |