Q92974
PR
Gene name |
ARHGEF2 (KIAA0651, LFP40) |
Protein name |
Rho guanine nucleotide exchange factor 2 |
Names |
Guanine nucleotide exchange factor H1, GEF-H1, Microtubule-regulated Rho-GEF, Proliferating cell nucleolar antigen p40 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9181 |
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
59 structures for Q92974
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5EFX | X-ray | 245 A | A | 439-582 | PDB |
| 7G80 | X-ray | 167 A | B | 206-448 | PDB |
| 7G81 | X-ray | 151 A | B | 206-448 | PDB |
| 7G82 | X-ray | 141 A | B | 206-448 | PDB |
| 7G83 | X-ray | 131 A | B | 206-448 | PDB |
| 7G84 | X-ray | 181 A | B | 206-448 | PDB |
| 7G85 | X-ray | 174 A | B | 206-448 | PDB |
| 7G86 | X-ray | 170 A | B | 206-448 | PDB |
| 7G87 | X-ray | 205 A | B | 206-448 | PDB |
| 7G88 | X-ray | 187 A | B | 206-448 | PDB |
| 7G89 | X-ray | 190 A | B | 206-448 | PDB |
| 7G8A | X-ray | 150 A | B | 206-448 | PDB |
| 7G8B | X-ray | 142 A | B | 206-448 | PDB |
| 7G8C | X-ray | 218 A | B | 206-448 | PDB |
| 7G8D | X-ray | 194 A | B | 206-448 | PDB |
| 7G8E | X-ray | 179 A | B | 206-448 | PDB |
| 7G8F | X-ray | 142 A | B | 206-448 | PDB |
| 7G8G | X-ray | 192 A | B | 206-448 | PDB |
| 7G8H | X-ray | 167 A | B | 206-448 | PDB |
| 7G8I | X-ray | 247 A | B | 206-448 | PDB |
| 7G8J | X-ray | 199 A | B | 206-448 | PDB |
| 7G8K | X-ray | 149 A | B | 206-448 | PDB |
| 7G8L | X-ray | 160 A | B | 206-448 | PDB |
| 7G8M | X-ray | 203 A | B | 206-448 | PDB |
| 7G8N | X-ray | 232 A | B | 206-448 | PDB |
| 7G8O | X-ray | 158 A | B | 206-448 | PDB |
| 7G8P | X-ray | 221 A | B | 206-448 | PDB |
| 7G8Q | X-ray | 156 A | B | 206-448 | PDB |
| 7G8R | X-ray | 144 A | B | 206-448 | PDB |
| 7G8S | X-ray | 160 A | B | 206-448 | PDB |
| 7G8T | X-ray | 139 A | B | 206-448 | PDB |
| 7G8U | X-ray | 244 A | B | 206-448 | PDB |
| 7G8V | X-ray | 145 A | B | 206-448 | PDB |
| 7G8W | X-ray | 194 A | B | 206-448 | PDB |
| 7G8X | X-ray | 171 A | B | 206-448 | PDB |
| 7G8Y | X-ray | 175 A | B | 206-448 | PDB |
| 7G8Z | X-ray | 151 A | B | 206-448 | PDB |
| 7G90 | X-ray | 191 A | B | 206-448 | PDB |
| 7G91 | X-ray | 229 A | B | 206-448 | PDB |
| 7G92 | X-ray | 187 A | B | 206-448 | PDB |
| 7G93 | X-ray | 169 A | B | 206-448 | PDB |
| 7G94 | X-ray | 147 A | B | 206-448 | PDB |
| 7G95 | X-ray | 155 A | B | 206-448 | PDB |
| 7G96 | X-ray | 230 A | B | 206-448 | PDB |
| 7G97 | X-ray | 230 A | B | 206-448 | PDB |
| 7G98 | X-ray | 288 A | B | 206-448 | PDB |
| 7G99 | X-ray | 178 A | B | 206-448 | PDB |
| 7G9A | X-ray | 258 A | B | 206-448 | PDB |
| 7G9B | X-ray | 255 A | B | 206-448 | PDB |
| 7G9C | X-ray | 269 A | B | 206-448 | PDB |
| 7G9D | X-ray | 266 A | B | 206-448 | PDB |
| 7G9E | X-ray | 215 A | B | 206-448 | PDB |
| 7G9F | X-ray | 194 A | B | 206-448 | PDB |
| 7G9G | X-ray | 208 A | B | 206-448 | PDB |
| 7G9H | X-ray | 275 A | B | 206-448 | PDB |
| 7G9I | X-ray | 220 A | B | 206-448 | PDB |
| 7G9J | X-ray | 197 A | B | 206-448 | PDB |
| 8BNT | X-ray | 140 A | B | 206-448 | PDB |
| AF-Q92974-F1 | Predicted | AlphaFoldDB |
625 variants for Q92974
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA342805320 RCV000984984 rs1370253003 |
128 | D>N | Neurodevelopmental disorder with midbrain and hindbrain malformations [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001330397 rs1678274044 |
306 | C>F | Neurodevelopmental disorder with midbrain and hindbrain malformations [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1153219 rs773431993 RCV001252705 |
567 | Q>H | Microcephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs200032144 CA1152858 RCV001252908 |
979 | G>W | Microcephaly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs980428523 CA30961595 |
4 | I>M | No |
ClinGen TOPMed |
|
|
rs535704421 CA30961578 |
8 | T>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA342801731 rs1409276852 |
9 | R>G | No |
ClinGen TOPMed |
|
|
CA342801725 rs915137620 |
10 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA342801726 rs915137620 |
10 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA30961574 rs915137620 |
10 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1395253441 CA342801722 |
10 | A>V | No |
ClinGen gnomAD |
|
|
rs1195117294 CA342801719 |
11 | R>Q | No |
ClinGen gnomAD |
|
|
CA342801716 rs1452261423 |
12 | I>L | No |
ClinGen gnomAD |
|
|
rs1177619470 CA342801707 |
13 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1056478574 CA30961559 |
13 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA30961569 rs1056478574 |
13 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA342801699 rs1481557900 |
14 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA342801701 rs1481557900 |
14 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1257257907 CA342801695 |
15 | S>N | No |
ClinGen TOPMed |
|
|
rs1249577730 CA342801690 |
16 | R>G | No |
ClinGen gnomAD |
|
|
CA342801688 rs1481820018 |
16 | R>K | No |
ClinGen TOPMed |
|
|
CA342801670 rs1260128281 |
19 | A>T | No |
ClinGen gnomAD |
|
|
rs1282653429 CA342801665 |
19 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1153616 rs371480698 |
22 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1153615 rs371480698 |
22 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1153613 rs373104177 |
23 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201229947 CA1153614 |
23 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342807613 rs1558043883 |
27 | K>E | No |
ClinGen Ensembl |
|
|
rs760362064 CA1153611 |
27 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376342272 CA342807564 |
28 | M>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs376342272 CA1153609 |
28 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs4373753 CA342807532 |
30 | E>* | No |
ClinGen TOPMed |
|
|
rs4373753 CA30993281 |
30 | E>K | No |
ClinGen TOPMed |
|
|
rs1336227610 CA342807508 |
31 | A>T | No |
ClinGen gnomAD |
|
|
CA342807450 rs1389676824 |
34 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs568080626 CA30993272 |
35 | R>C | No |
ClinGen gnomAD |
|
|
CA342807413 rs1174401642 |
35 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs568080626 CA342807431 |
35 | R>S | No |
ClinGen gnomAD |
|
|
CA1153607 rs771581112 |
37 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1153606 rs758919022 |
38 | N>S | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1153602 rs778092820 |
43 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA342807206 rs1250399885 |
45 | I>N | No |
ClinGen gnomAD |
|
|
CA1153601 rs770100732 |
49 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1272699957 CA342807047 |
52 | M>R | No |
ClinGen TOPMed |
|
|
CA1153600 rs748368087 |
52 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs781228656 CA1153599 |
54 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs755253758 CA1153598 |
55 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs140296294 CA30993201 |
61 | T>I | No |
ClinGen ESP TOPMed |
|
|
CA1153597 rs751635031 |
62 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1226484060 CA342806832 |
65 | A>V | No |
ClinGen gnomAD |
|
|
rs369051956 CA30993191 |
69 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs757259766 CA1153595 |
70 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs75132931 CA30992199 |
71 | C>* | No |
ClinGen Ensembl |
|
|
CA342806052 rs1474552110 |
74 | T>P | No |
ClinGen gnomAD |
|
|
CA342806039 rs1180821811 |
75 | I>V | No |
ClinGen gnomAD |
|
|
CA342805981 rs1414903419 |
78 | R>H | No |
ClinGen TOPMed |
|
|
rs1407325149 CA342805946 |
80 | K>T | No |
ClinGen TOPMed |
|
|
rs767411764 CA1153572 |
84 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 84 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206532771 CA342805877 |
85 | N>D | No |
ClinGen gnomAD |
|
|
CA342805874 rs1464280003 |
85 | N>T | No |
ClinGen gnomAD |
|
|
rs754611614 CA1153571 |
90 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs751257080 CA1153570 |
91 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs765841135 CA1153569 |
91 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1316433075 CA342805799 |
91 | Q>R | No |
ClinGen TOPMed |
|
|
CA342805709 rs1306042222 |
96 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1385483513 CA342805703 |
96 | A>V | No |
ClinGen gnomAD |
|
|
CA342805700 rs1299252651 |
97 | A>S | No |
ClinGen gnomAD |
|
|
rs1299252651 CA342805702 |
97 | A>T | No |
ClinGen gnomAD |
|
|
rs1432818458 CA342805647 |
102 | N>H | No |
ClinGen TOPMed |
|
|
CA1153547 rs542328705 |
104 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1395341330 CA342805596 |
106 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs762214219 CA1153545 |
108 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144403521 CA1153544 |
109 | S>A | No |
ClinGen ESP ExAC TOPMed |
|
|
CA1153543 rs764526135 |
109 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 110 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761084518 CA1153542 |
111 | R>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 111 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 113 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30992008 rs1042877693 |
114 | T>A | No |
ClinGen gnomAD |
|
|
CA342805440 rs1261654965 |
115 | T>I | No |
ClinGen gnomAD |
|
|
rs1572154623 CA342805431 |
116 | I>T | No |
ClinGen Ensembl |
|
|
CA1153527 rs753323497 COSM1747810 COSM3930428 |
117 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA342805423 rs1218424526 |
117 | R>W | No |
ClinGen gnomAD |
|
|
rs968797037 CA342805404 |
118 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA342805417 rs1288288715 |
118 | E>K | No |
ClinGen gnomAD |
|
|
CA342805400 rs1355537515 |
119 | R>Q | No |
ClinGen gnomAD |
|
|
CA342805401 rs1296415906 |
119 | R>W | No |
ClinGen TOPMed |
|
|
rs764650666 CA1153526 |
121 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA342805354 rs1401101896 |
123 | A>T | No |
ClinGen gnomAD |
|
|
rs1289188899 CA342805339 |
124 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768049423 CA1153523 |
125 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs991232961 CA30991736 |
125 | Y>S | No |
ClinGen Ensembl |
|
|
rs1386291493 CA342805327 |
126 | P>L | No |
ClinGen gnomAD |
|
|
rs1423427440 CA342805294 |
131 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA342805295 rs1185571677 |
131 | R>W | No |
ClinGen gnomAD |
|
|
CA30991714 rs1021334658 |
132 | Q>H | No |
ClinGen Ensembl |
|
|
rs771089711 CA1153520 |
134 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA342805270 rs1190849587 |
135 | L>P | No |
ClinGen gnomAD |
|
|
rs1190849587 CA342805269 |
135 | L>R | No |
ClinGen gnomAD |
|
|
CA30991704 rs753965944 |
136 | G>S | No |
ClinGen gnomAD |
|
|
rs1572153994 CA342805263 |
137 | S>P | No |
ClinGen Ensembl |
|
|
CA342805253 rs1226374102 |
138 | R>H | No |
ClinGen TOPMed |
|
|
rs200151559 CA1153519 |
139 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1153518 rs374781823 |
139 | R>H | Variant assessed as Somatic; 4.863e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA342805238 rs1209153703 |
141 | R>C | No |
ClinGen gnomAD |
|
|
COSM1334751 rs1266667140 CA342805236 |
141 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA342805235 rs1266667140 |
141 | R>L | No |
ClinGen gnomAD |
|
|
rs1339461409 CA342805179 |
150 | V>I | No |
ClinGen gnomAD |
|
|
CA342805135 rs1295863386 |
156 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 157 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138277478 CA1153496 |
160 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142089204 CA1153494 |
161 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs985840732 CA30991565 |
161 | D>N | No |
ClinGen Ensembl |
|
|
rs953227816 CA30991561 |
162 | E>D | No |
ClinGen Ensembl |
|
|
CA1153493 rs770552827 |
168 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA342805050 rs1219525977 |
168 | R>H | No |
ClinGen gnomAD |
|
|
CA342805045 rs1346859914 |
169 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs748949505 CA1153492 |
170 | I>F | No |
ClinGen ExAC |
|
|
rs6661002 CA30991539 |
174 | S>A | No |
ClinGen Ensembl |
|
|
CA342804981 rs1309891110 |
179 | N>S | No |
ClinGen gnomAD |
|
|
rs755453195 CA1153487 |
180 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA342804967 rs1370122907 |
181 | R>Q | No |
ClinGen gnomAD |
|
|
rs1399169713 CA342804956 |
183 | R>* | No |
ClinGen TOPMed |
|
|
CA342804949 rs1313719504 |
184 | T>S | No |
ClinGen gnomAD |
|
|
CA342804944 rs1446991693 |
185 | L>V | No |
ClinGen TOPMed |
|
|
rs751883387 CA1153486 |
187 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs952027237 CA30991523 |
189 | S>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 192 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750817170 CA1153466 |
198 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
CA30991456 rs939456213 |
199 | S>G | No |
ClinGen TOPMed |
|
|
rs1181981374 CA342804784 |
206 | E>* | No |
ClinGen gnomAD |
|
|
rs753851689 CA1153463 |
208 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs369719782 CA1153461 |
210 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342804741 rs1269855732 |
211 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1206723039 CA342804726 |
213 | A>V | No |
ClinGen gnomAD |
|
|
CA342804719 rs1328457566 |
215 | D>N | No |
ClinGen gnomAD |
|
|
rs1293971688 CA342804692 |
218 | S>T | No |
ClinGen TOPMed |
|
|
rs774193522 CA1153460 |
221 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1230130742 CA342804670 |
222 | D>N | No |
ClinGen gnomAD |
|
|
CA1153458 rs762784402 |
223 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs766367130 CA1153459 |
223 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1153456 rs769504174 |
235 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs761622296 CA1153455 |
238 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA342804541 rs1189777127 |
239 | V>I | No |
ClinGen Ensembl |
|
|
rs1263141148 CA342804526 |
241 | Y>C | No |
ClinGen Ensembl |
|
|
CA1153435 rs768387036 |
243 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA342804235 rs1458889544 |
246 | T>S | No |
ClinGen TOPMed |
|
|
rs1572131977 CA342804215 |
249 | H>P | No |
ClinGen Ensembl |
|
|
CA1153431 rs773007673 |
258 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA1153430 rs571802370 |
259 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1153428 rs148865279 |
259 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1153429 rs148865279 |
259 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1153427 rs144287482 |
262 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 262 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1153426 rs202055763 |
262 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199822429 CA1153424 COSM897087 |
263 | T>M | Variant assessed as Somatic; 4.66e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA342804119 rs1423997855 |
264 | G>A | No |
ClinGen gnomAD |
|
|
rs1359504077 CA342804061 |
272 | E>D | No |
ClinGen gnomAD |
|
|
rs758394603 CA1153423 |
274 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1431330669 CA342804028 |
278 | G>C | No |
ClinGen gnomAD |
|
|
CA1153422 rs750433992 |
282 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA342804002 rs750433992 |
282 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA1153421 rs765094376 |
282 | C>S | No |
ClinGen ExAC |
|
|
CA1153419 rs753689780 |
283 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1181825619 CA342803982 |
285 | E>G | No |
ClinGen TOPMed |
|
|
rs751383204 CA30990348 |
285 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs763927059 CA30990346 |
287 | S>N | No |
ClinGen Ensembl |
|
|
rs1208504143 CA342803952 |
289 | I>T | No |
ClinGen gnomAD |
|
|
rs376624670 CA1153415 |
291 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1153413 rs774796723 |
292 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139042491 CA1153412 |
292 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30990335 rs139042491 |
292 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30990330 rs995793007 |
294 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA30990329 rs898776951 |
296 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA342803895 rs1405182132 |
298 | L>F | No |
ClinGen gnomAD |
|
|
rs769903216 CA1153409 |
299 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs368861968 CA1153408 |
300 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1153407 rs201374134 |
301 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1153406 rs142996931 |
302 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747118834 CA1153405 |
302 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747118834 CA342803874 |
302 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs907381229 CA30990327 |
303 | Q>H | No |
ClinGen TOPMed |
|
|
rs146373060 CA1153403 |
307 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755710866 CA1153400 |
311 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1321890103 CA342803786 |
316 | H>R | No |
ClinGen gnomAD |
|
|
CA1153397 rs758995792 |
316 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs867955483 CA30990293 COSM1688744 |
317 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs550963600 CA1153396 |
317 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1433852716 CA342803769 |
319 | G>S | No |
ClinGen TOPMed |
|
|
rs763582461 CA1153394 |
323 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA30990167 rs12077465 |
329 | P>H | No |
ClinGen Ensembl |
|
|
rs1572129261 CA342803687 |
330 | S>G | No |
ClinGen Ensembl |
|
|
CA342803682 CA342803681 rs1387347074 |
330 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763347486 CA1153377 |
331 | A>V | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765695687 CA1153375 |
332 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs994478212 CA30990159 |
335 | C>R | No |
ClinGen Ensembl |
|
|
CA30990152 rs147576714 |
335 | C>S | No |
ClinGen ESP |
|
|
CA1153374 rs762190752 |
336 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1170812286 CA342803578 |
339 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 341 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1153372 rs768933825 |
341 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs775701896 CA1153370 |
344 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1153369 rs772247274 |
344 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775701896 CA1153371 |
344 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749153198 CA1153368 |
346 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1153367 rs777714290 |
348 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342803415 rs777714290 |
348 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348963669 CA342803361 |
351 | L>F | No |
ClinGen TOPMed |
|
|
rs769628717 CA1153366 |
355 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 357 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431349444 CA342803229 |
357 | A>T | No |
ClinGen gnomAD |
|
|
CA342803205 rs1404426797 |
358 | R>Q | No |
ClinGen gnomAD |
|
|
CA342803154 rs1327463595 |
361 | R>C | No |
ClinGen TOPMed |
|
|
CA1153363 rs758947911 |
367 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1468241675 CA342803012 |
368 | K>N | No |
ClinGen gnomAD |
|
|
rs950289617 CA30989934 |
370 | T>P | No |
ClinGen Ensembl |
|
|
CA342802994 rs1231968586 |
371 | R>H | No |
ClinGen gnomAD |
|
|
rs1231968586 CA342802993 |
371 | R>P | No |
ClinGen gnomAD |
|
|
CA342802986 rs1187913751 |
372 | P>S | No |
ClinGen gnomAD |
|
|
rs778354915 CA342802981 |
373 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1153341 rs778354915 |
373 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1153338 rs770487059 |
374 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753014532 CA1153336 |
384 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1450540559 CA342802868 |
385 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 389 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767708077 CA1153335 |
391 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA30989847 rs970436939 |
392 | T>A | No |
ClinGen Ensembl |
|
|
CA342802798 rs970436939 |
392 | T>P | No |
ClinGen Ensembl |
|
|
CA342802793 rs1391500228 |
392 | T>S | No |
ClinGen gnomAD |
|
|
CA1153333 rs200559260 |
395 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1187286224 CA342802722 |
398 | I>M | No |
ClinGen TOPMed |
|
|
rs776511128 CA1153330 |
400 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1475947036 CA342802700 |
400 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs773569302 CA1153327 |
407 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1153303 rs756673457 |
408 | I>M | No |
ClinGen ExAC TOPMed |
|
|
CA1153302 rs748649147 |
409 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781587819 CA1153301 |
412 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA342802533 rs1356038204 |
412 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA342802486 rs1409259627 |
416 | T>I | No |
ClinGen gnomAD |
|
|
CA30989667 rs938222096 |
417 | T>I | No |
ClinGen Ensembl |
|
|
CA342802442 rs1357099558 |
422 | V>M | No |
ClinGen TOPMed |
|
|
rs780191680 CA1153299 |
428 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30989653 rs1000635517 |
428 | N>K | No |
ClinGen TOPMed |
|
|
CA1153298 rs780191680 |
428 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1153296 rs750498488 |
431 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA342802330 rs1249940685 |
432 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 440 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1153295 rs765360681 |
440 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA342802212 rs1281348315 |
441 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1153293 rs752620262 |
441 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1020659096 CA30989577 |
446 | Y>N | No |
ClinGen Ensembl |
|
|
rs369278776 CA1153291 |
448 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1375114361 CA342802132 |
448 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1375114361 CA342802129 |
448 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774305439 CA1153290 COSM1491768 |
449 | M>I | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1296189492 CA342802126 |
449 | M>V | No |
ClinGen gnomAD |
|
|
rs1359596166 CA342802102 |
450 | D>E | No |
ClinGen gnomAD |
|
|
rs770700225 CA1153289 |
451 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1153287 rs772824515 |
452 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428651206 CA342802090 |
452 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 456 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181803951 CA342802038 |
457 | V>M | No |
ClinGen TOPMed |
|
|
rs1483778453 CA342802020 |
458 | P>L | No |
ClinGen gnomAD |
|
|
rs1239637197 CA342802011 |
459 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1239637197 CA342802010 |
459 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1202304436 CA342801991 |
461 | G>D | No |
ClinGen gnomAD |
|
|
rs1457465782 CA342801981 |
462 | P>L | No |
ClinGen gnomAD |
|
|
rs1318279374 CA342801953 |
465 | R>* | No |
ClinGen gnomAD |
|
|
CA1153284 rs781500973 |
468 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 469 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867149295 CA30989533 |
471 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1153282 rs747307265 |
472 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA342801907 rs747307265 |
472 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs758607678 CA1153280 |
474 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450311844 CA342801898 |
474 | I>V | No |
ClinGen gnomAD |
|
|
rs890796943 CA30989516 |
476 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA342801884 rs1455411443 |
476 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1377110415 CA342801873 |
477 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 484 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM897083 CA1153276 rs576936245 |
484 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759581451 CA1153274 |
485 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207479001 CA342801808 |
487 | R>H | No |
ClinGen gnomAD |
|
|
CA1153251 rs758216329 |
493 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA30985527 rs4992999 |
495 | L>V | No |
ClinGen Ensembl |
|
|
CA342801433 rs1316965202 |
496 | M>T | No |
ClinGen TOPMed |
|
|
rs1374372882 CA342801420 |
497 | T>R | No |
ClinGen TOPMed |
|
|
CA342801408 rs1238985335 |
498 | D>E | No |
ClinGen TOPMed |
|
|
rs1371526262 CA342801405 |
499 | V>I | No |
ClinGen gnomAD |
|
|
CA342801270 rs1284455236 |
511 | I>V | No |
ClinGen TOPMed |
|
|
rs1156916418 CA342801244 |
513 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1460876576 CA342801232 |
514 | T>I | No |
ClinGen gnomAD |
|
|
rs201542176 CA1153238 |
516 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs201473693 CA30985292 |
517 | K>R | No |
ClinGen Ensembl |
|
|
CA30985282 rs957166479 |
519 | S>* | No |
ClinGen TOPMed |
|
|
rs749569749 CA342801142 |
520 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749569749 CA1153237 |
520 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342801125 rs1233111734 |
521 | V>A | No |
ClinGen gnomAD |
|
|
CA342801124 rs1233111734 |
521 | V>G | No |
ClinGen gnomAD |
|
|
rs756219943 CA1153235 |
522 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368062889 CA30985266 |
527 | I>S | No |
ClinGen ESP TOPMed |
|
|
rs1007399605 CA30985259 |
528 | V>A | No |
ClinGen TOPMed |
|
|
rs765138663 CA1153230 |
528 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA342801060 rs765138663 CA1153231 |
528 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs753569962 CA1153228 |
529 | R>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 535 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335519626 CA342800982 |
535 | E>G | No |
ClinGen gnomAD |
|
|
rs1455010043 CA342800947 |
538 | M>T | No |
ClinGen gnomAD |
|
|
rs774997193 CA1153225 |
543 | A>T | No |
ClinGen ExAC |
|
| TCGA novel | 544 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1153224 rs199656150 |
544 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 546 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207013777 CA342800868 |
546 | P>T | No |
ClinGen TOPMed |
|
|
CA342800802 rs1558011605 |
551 | V>A | No |
ClinGen Ensembl |
|
|
CA342800784 rs1159925485 |
553 | T>A | No |
ClinGen gnomAD |
|
|
rs1468317227 CA342800772 |
554 | A>V | No |
ClinGen gnomAD |
|
|
CA342800755 rs1183998665 |
556 | R>W | No |
ClinGen gnomAD |
|
|
rs1276560238 CA342800719 |
559 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1462550249 CA342800721 |
559 | R>W | No |
ClinGen gnomAD |
|
|
rs771364155 CA1153221 |
560 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA342800704 rs1447638565 |
561 | T>P | No |
ClinGen gnomAD |
|
|
rs200042933 CA30985209 |
563 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA30985195 rs1048859380 |
564 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA30985183 rs897939378 |
570 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs544890242 CA1153218 |
571 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA1153217 rs748171364 |
572 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339358934 CA342800516 |
577 | E>V | No |
ClinGen gnomAD |
|
|
rs373036778 CA1153197 |
578 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1409771770 CA342800499 |
579 | F>L | No |
ClinGen TOPMed |
|
|
CA1153195 rs138903024 |
582 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 585 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777615385 CA1153193 |
586 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777615385 CA342800459 |
586 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1153191 rs752382367 |
590 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1217885737 CA342800429 |
590 | L>V | No |
ClinGen TOPMed |
|
|
rs754458553 CA1153189 |
593 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054463771 CA30983813 |
594 | K>Q | No |
ClinGen Ensembl |
|
|
rs1558000200 CA342800363 |
598 | Q>R | No |
ClinGen Ensembl |
|
|
rs759639622 CA342800353 |
599 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342800355 rs1406748622 |
599 | Q>R | No |
ClinGen gnomAD |
|
|
CA1153158 rs773096672 |
602 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs925121851 CA30982407 |
602 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1160070713 CA342800332 |
603 | A>T | No |
ClinGen gnomAD |
|
|
rs769730199 CA1153157 |
604 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs768352282 CA1153154 |
609 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746681074 CA1153153 |
612 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1572063240 CA342800274 |
612 | V>G | No |
ClinGen Ensembl |
|
|
CA1153151 rs757797639 |
613 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216027269 CA342800241 |
618 | M>V | No |
ClinGen gnomAD |
|
|
rs1277432727 CA342800232 |
619 | T>A | No |
ClinGen TOPMed |
|
|
CA1153149 rs779495043 |
619 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239163740 CA342800199 |
623 | A>V | No |
ClinGen gnomAD |
|
|
CA342800198 rs1346406211 |
624 | E>K | No |
ClinGen TOPMed |
|
|
CA30982312 rs912477008 |
626 | D>E | No |
ClinGen gnomAD |
|
|
CA30982298 rs986774777 |
627 | G>D | No |
ClinGen gnomAD |
|
|
CA342800171 rs1281620269 |
628 | G>S | No |
ClinGen TOPMed |
|
|
rs531554026 CA1153145 |
629 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1056942 CA342800152 |
631 | M>V | No |
ClinGen gnomAD |
|
|
rs1343670184 CA342800136 |
633 | L>P | No |
ClinGen gnomAD |
|
|
rs1158351649 CA342800129 |
634 | P>R | No |
ClinGen gnomAD |
|
|
CA1153143 rs767816233 |
635 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182263882 CA342800119 |
636 | L>R | No |
ClinGen gnomAD |
|
|
rs1470634501 CA342800114 |
637 | P>L | No |
ClinGen TOPMed |
|
|
CA30982239 rs972125940 |
637 | P>S | No |
ClinGen Ensembl |
|
|
rs759548146 CA1153142 |
638 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342800104 rs1186605915 |
639 | G>D | No |
ClinGen gnomAD |
|
|
rs1452545241 CA342800107 |
639 | G>S | No |
ClinGen TOPMed |
|
|
rs1415975727 CA342800100 |
640 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs765148044 CA1153140 |
642 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761806708 CA1153139 |
642 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243621973 CA342800067 |
645 | S>P | No |
ClinGen gnomAD |
|
|
CA1153137 rs768385602 |
650 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1296321151 CA342800035 |
650 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1296321151 CA342800033 |
650 | R>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 651 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1153134 rs754434988 |
652 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745316588 CA1153133 |
653 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1034426337 CA30982205 |
656 | Q>P | No |
ClinGen TOPMed |
|
|
rs1162097519 CA342799990 |
658 | A>T | No |
ClinGen gnomAD |
|
|
rs1304829302 CA342799975 |
660 | R>C | No |
ClinGen TOPMed |
|
|
rs749849556 CA1153130 |
660 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342799968 rs1173247458 |
661 | E>A | No |
ClinGen gnomAD |
|
|
CA342799938 rs1336694729 |
664 | G>S | No |
ClinGen gnomAD |
|
|
CA1153106 rs780276815 |
666 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 670 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30981921 rs372203848 |
670 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 672 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342799889 rs1330625639 |
672 | P>S | No |
ClinGen gnomAD |
|
|
rs1572059194 CA342799876 |
674 | V>G | No |
ClinGen Ensembl |
|
|
rs750519721 CA1153104 |
674 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1153105 rs750519721 |
674 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463179016 CA342799844 |
679 | T>I | No |
ClinGen gnomAD |
|
|
CA1153103 rs763878686 |
680 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1153102 rs368467356 |
681 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557997817 CA342799827 |
682 | E>D | No |
ClinGen Ensembl |
|
|
CA342799830 rs1364121622 |
682 | E>G | No |
ClinGen gnomAD |
|
|
CA342799833 rs1477515767 |
682 | E>Q | No |
ClinGen gnomAD |
|
|
CA30981903 rs375093056 |
683 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs1485233563 CA342799820 |
684 | A>P | No |
ClinGen TOPMed |
|
|
rs752428008 CA342799807 |
686 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1153101 rs752428008 |
686 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30981878 rs903562789 |
687 | L>V | No |
ClinGen Ensembl |
|
|
rs759237835 CA1153099 |
688 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs767457989 CA1153100 |
688 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1153098 rs774094382 |
689 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs201099354 CA1153097 |
690 | D>E | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA1153095 rs772839610 |
692 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1153094 rs770200596 |
693 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342799764 rs1238432045 |
693 | G>V | No |
ClinGen gnomAD |
|
|
rs140822619 CA1153093 |
695 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342799749 rs1455102229 |
696 | S>G | No |
ClinGen gnomAD |
|
|
CA30981851 rs767426471 |
697 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs201934543 CA1153090 |
699 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs143908534 CA1153073 |
703 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342799679 rs1164000289 |
705 | A>T | No |
ClinGen gnomAD |
|
|
CA1153071 rs775888724 |
712 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746140020 CA1153069 |
715 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA1153068 rs145368950 |
717 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757309686 CA1153067 |
721 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs781221842 CA1153065 |
722 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 725 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749370225 CA1153048 |
726 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA342799524 rs1220647427 |
726 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs778067769 CA1153047 |
727 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1174526327 CA342799505 |
729 | N>T | No |
ClinGen gnomAD |
|
|
rs141390530 CA30981519 |
733 | S>P | No |
ClinGen ESP gnomAD |
|
|
CA1153046 rs768686704 |
734 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1329321498 CA342799473 |
734 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1030545033 CA30981500 |
735 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA30981496 rs976272819 |
736 | E>Q | No |
ClinGen TOPMed |
|
|
rs1421889261 CA342799444 |
737 | E>K | No |
ClinGen gnomAD |
|
|
CA1153031 rs138090439 COSM529401 |
738 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs914703970 CA30981266 |
741 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1153028 rs769947243 |
744 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1236531052 CA342799382 COSM3720319 COSM3720318 |
746 | Y>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA30981257 rs746864776 |
750 | H>R | No |
ClinGen Ensembl |
|
|
CA342799319 rs1237747990 |
754 | A>G | No |
ClinGen TOPMed |
|
|
CA342799314 rs1192554317 |
755 | A>D | No |
ClinGen gnomAD |
|
|
rs1259457741 CA342799317 |
755 | A>T | No |
ClinGen gnomAD |
|
|
rs778676521 CA30981020 |
756 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1269244857 CA342799304 |
757 | A>T | No |
ClinGen gnomAD |
|
|
CA342799278 rs1258731854 |
760 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1382164507 CA342799282 |
760 | D>Y | No |
ClinGen TOPMed |
|
|
rs774172590 CA1153006 |
761 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA342799272 rs774172590 |
761 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs749109781 CA1153004 |
766 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368274787 CA1153005 |
766 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1153002 rs755773190 |
767 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA342799216 rs1397839771 |
770 | G>D | No |
ClinGen gnomAD |
|
|
CA342799196 rs1397557906 |
773 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs755491052 CA1152999 |
773 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868529512 CA342799194 |
774 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA30980976 rs868529512 |
774 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs751964315 CA1152998 |
774 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030834474 CA30980963 |
775 | E>G | No |
ClinGen gnomAD |
|
|
rs767026645 CA1152997 |
775 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1436355074 CA342799176 |
777 | L>P | No |
ClinGen TOPMed |
|
|
rs765544432 CA342799163 |
779 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1152994 rs765544432 |
779 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765544432 CA1152995 |
779 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456482557 CA342799158 |
780 | A>G | No |
ClinGen gnomAD |
|
|
CA342799152 rs1257551347 |
781 | N>S | No |
ClinGen gnomAD |
|
|
rs575038617 CA342799144 |
782 | S>C | No |
ClinGen 1000Genomes gnomAD |
|
|
rs575038617 CA30980928 |
782 | S>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA342799142 rs776739832 |
783 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776739832 CA1152992 |
783 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762005951 CA1152993 |
783 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA342799132 rs1213120427 |
785 | G>R | No |
ClinGen TOPMed |
|
|
CA30980896 rs977508784 |
786 | E>G | No |
ClinGen Ensembl |
|
|
CA1152991 rs764128548 |
786 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs760830802 CA1152990 |
788 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 788 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342799089 rs1572051279 |
792 | A>P | No |
ClinGen Ensembl |
|
|
CA1152987 rs749022729 |
793 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA342799071 rs1414627355 |
795 | V>L | No |
ClinGen gnomAD |
|
|
CA342799067 rs1403916058 |
796 | A>T | No |
ClinGen gnomAD |
|
|
CA342799062 rs1170520147 |
796 | A>V | No |
ClinGen gnomAD |
|
|
CA342799031 rs1380734944 |
801 | A>T | No |
ClinGen gnomAD |
|
|
rs1012251379 CA30980856 |
802 | T>M | No |
ClinGen TOPMed |
|
|
CA342799005 rs1237580648 |
805 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA342798981 rs200637880 |
809 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1254320249 CA342798978 |
809 | R>Q | No |
ClinGen gnomAD |
|
|
CA1152983 rs200637880 |
809 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746534561 CA1152981 |
812 | A>S | No |
ClinGen ExAC TOPMed |
|
|
rs780651388 CA1152980 |
812 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1238545129 CA342798920 |
818 | L>P | No |
ClinGen gnomAD |
|
|
rs753957465 CA1152975 |
819 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757478963 CA1152976 |
819 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448120174 CA342798913 |
820 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1341811812 CA342798912 |
820 | R>H | No |
ClinGen gnomAD |
|
|
CA342798906 rs1331765957 |
821 | C>Y | No |
ClinGen gnomAD |
|
|
rs370742698 CA1152974 |
822 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1043912121 CA30980818 |
822 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA1152972 rs546887061 |
823 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1152973 rs760601887 |
823 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473802635 CA342798858 |
827 | E>A | No |
ClinGen gnomAD |
|
|
rs1187054088 CA342798844 |
828 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1366836897 CA342798848 |
828 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1152971 rs766287923 |
829 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 830 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214914106 CA342798825 |
831 | E>K | No |
ClinGen gnomAD |
|
|
CA342798801 rs1271461277 |
833 | G>D | No |
ClinGen TOPMed |
|
|
CA342798805 rs1488207311 |
833 | G>S | No |
ClinGen gnomAD |
|
|
CA342798795 rs1291202135 |
834 | S>G | No |
ClinGen gnomAD |
|
|
CA30980809 rs911479686 |
838 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs772971872 CA1152969 |
838 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1152968 rs769431943 |
839 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1152966 rs768368724 |
840 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1152965 rs768368724 |
840 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371193783 CA1152967 |
840 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA342798715 rs1388607562 |
842 | S>N | No |
ClinGen gnomAD |
|
|
rs779778010 CA1152963 |
844 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342798682 rs1478234357 |
845 | A>S | No |
ClinGen gnomAD |
|
|
rs1262165292 CA342798673 |
846 | R>Q | No |
ClinGen TOPMed |
|
|
CA342798674 rs1426046254 |
846 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1572049491 CA342798648 |
849 | L>Q | No |
ClinGen Ensembl |
|
|
rs746423976 CA1152961 |
851 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1152960 rs779585153 |
851 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342798621 rs1287061010 |
852 | E>G | No |
ClinGen gnomAD |
|
|
CA342798604 rs1318066744 |
853 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1216451247 CA342798603 |
854 | E>K | No |
ClinGen gnomAD |
|
|
rs777795750 CA1152957 |
856 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA342798569 rs1438448161 |
857 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA342798570 rs1438448161 |
857 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs533748068 CA30980749 |
857 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533748068 CA1152956 |
857 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1152955 rs752766423 |
858 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759637676 CA1152953 |
862 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA30980723 rs967413660 |
863 | L>R | No |
ClinGen Ensembl |
|
| TCGA novel | 864 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765226484 CA1152951 |
865 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193303080 CA342798454 |
869 | L>F | No |
ClinGen gnomAD |
|
|
rs768191323 CA1152948 |
870 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486896354 CA342798435 |
871 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 872 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1152947 rs760442263 |
873 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1152944 rs774928815 |
874 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1152943 rs774928815 |
874 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA342798376 rs1259465979 |
876 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1152942 rs771478589 |
877 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1152941 rs749600621 |
877 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1365301237 CA342798346 |
880 | V>M | No |
ClinGen gnomAD |
|
|
rs150114433 CA1152939 |
881 | D>A | No |
ClinGen ESP ExAC TOPMed |
|
|
CA342798330 rs150114433 |
881 | D>V | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 883 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1152937 rs781428720 |
884 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA1152936 rs754988520 COSM1668045 |
885 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1152935 rs377007664 |
885 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760566971 CA1152930 |
889 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1152931 COSM3802172 COSM1183520 rs760566971 |
889 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs767282425 CA1152929 |
891 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767282425 CA1152928 |
891 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1239407876 CA342798136 |
898 | N>S | No |
ClinGen gnomAD |
|
|
CA342798131 rs1176244350 |
899 | P>T | No |
ClinGen gnomAD |
|
|
CA1152926 rs773965365 |
900 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773965365 CA1152927 |
900 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342798105 rs1237684694 |
901 | Q>L | No |
ClinGen gnomAD |
|
|
rs1489189000 CA342798047 |
902 | P>L | No |
ClinGen gnomAD |
|
|
CA342798043 rs1283766751 |
903 | S>C | No |
ClinGen gnomAD |
|
|
CA342798021 rs1238289036 |
904 | R>Q | No |
ClinGen gnomAD |
|
|
rs372851021 CA1152909 |
905 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 906 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342797993 rs1226764715 |
906 | T>I | No |
ClinGen gnomAD |
|
|
rs1572044587 CA342797979 |
907 | D>A | No |
ClinGen Ensembl |
|
|
COSM206811 rs1355066378 CA342797965 |
908 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs765866972 CA1152908 |
908 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342797942 rs1288768310 |
910 | D>N | No |
ClinGen gnomAD |
|
|
CA342797919 rs1358415527 |
911 | L>P | No |
ClinGen TOPMed |
|
|
rs1399101825 CA342797910 |
912 | P>S | No |
ClinGen TOPMed |
|
|
rs146435720 CA342797868 |
915 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146435720 CA1152904 |
915 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs902549846 CA30980468 |
916 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA342797853 rs141465288 COSM897082 |
916 | R>H | Variant assessed as Somatic; 4.666e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs141465288 CA1152903 |
916 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1152902 rs141465288 |
916 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs928090442 CA30980451 |
917 | S>F | No |
ClinGen TOPMed |
|
|
CA1152900 rs780160100 |
919 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1152899 rs539956003 |
920 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1152898 rs745939361 |
922 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 922 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30980406 rs948500980 |
925 | R>* | No |
ClinGen TOPMed |
|
|
CA1152897 rs777708220 |
925 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342797741 rs1217724379 |
926 | E>K | No |
ClinGen TOPMed |
|
|
CA1152896 rs756174687 |
928 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA342797718 rs1211892341 |
928 | Q>K | No |
ClinGen gnomAD |
|
|
CA342797703 rs1244123949 |
930 | L>M | No |
ClinGen TOPMed |
|
|
rs1258930520 CA342797697 |
931 | G>R | No |
ClinGen gnomAD |
|
|
CA342797681 rs1338850550 |
933 | P>H | No |
ClinGen gnomAD |
|
|
rs1181408327 CA342797675 |
934 | E>A | No |
ClinGen TOPMed |
|
|
rs1387800726 CA342797678 |
934 | E>K | No |
ClinGen gnomAD |
|
|
rs765954872 CA1152891 |
936 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1152892 rs751186042 |
936 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA30980402 rs530516035 |
938 | Q>L | No |
ClinGen Ensembl |
|
|
CA342797621 rs1572043594 |
942 | D>A | No |
ClinGen Ensembl |
|
|
rs990259006 CA30980400 |
942 | D>H | No |
ClinGen TOPMed |
|
|
CA1152889 rs749963524 COSM1183517 |
946 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA342797591 rs1170896455 |
947 | S>C | No |
ClinGen gnomAD |
|
|
CA342797582 rs1371066160 |
948 | E>K | No |
ClinGen gnomAD |
|
|
rs56794580 RCV000953005 CA1152885 |
951 | G>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs56794580 CA1152886 |
951 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs934204251 CA30980383 |
953 | S>G | No |
ClinGen Ensembl |
|
|
rs1197073648 CA342797540 |
954 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA342797537 rs1339157141 |
954 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs760976683 CA1152884 |
957 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA342797508 rs1302035805 |
959 | H>R | No |
ClinGen gnomAD |
|
|
COSM897081 rs745943972 CA1152881 |
960 | S>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1337712436 CA342797492 |
961 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1337712436 CA342797494 |
961 | P>Q | No |
ClinGen gnomAD |
|
|
rs1251047197 CA342797490 |
962 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA342797489 rs1234420837 |
962 | R>Q | No |
ClinGen gnomAD |
|
|
rs775775307 CA1152865 |
963 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342797415 rs1188445218 |
964 | F>C | No |
ClinGen gnomAD |
|
|
rs1177030702 CA342797402 |
965 | T>I | No |
ClinGen gnomAD |
|
|
rs1255762818 CA342797369 |
968 | Q>R | No |
ClinGen gnomAD |
|
|
rs1045838343 CA30978652 |
969 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 970 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342797332 rs1288753537 |
971 | P>L | No |
ClinGen gnomAD |
|
|
CA30978647 rs539158271 |
974 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1404451460 CA342797268 |
977 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA342797266 rs1356981777 |
977 | R>H | No |
ClinGen gnomAD |
|
|
rs200032144 CA1152859 |
979 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs921566752 CA30978611 |
985 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1557982866 CA342797188 |
985 | E>V | No |
ClinGen Ensembl |
|
|
rs12736031 CA30978604 |
986 | S>R | No |
ClinGen Ensembl |
1 associated diseases with Q92974
[MIM: 617523]: Neurodevelopmental disorder with midbrain and hindbrain malformations (NEDMHM)
An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, speech delay, mild microcephaly, midbrain-hindbrain malformations, and variable dysmorphic features. {ECO:0000269|PubMed:28453519}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, speech delay, mild microcephaly, midbrain-hindbrain malformations, and variable dysmorphic features. {ECO:0000269|PubMed:28453519}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for Q92974
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Dbl homology (DH) domain | 235 - 432 | IPR000219 |
| domain | Pleckstrin homology domain | 472 - 573 | IPR001849 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 39 - 86 | IPR002219 |
| domain | ARHGEF2, PH domain | 470 - 585 | IPR037806 |
| domain | ARHGEF1-like, PH domain | 463 - 570 | IPR041020 |
Functions
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| bicellular tight junction | An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
| spindle | The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
4 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. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| small GTPase binding | Binding to a small monomeric GTPase. |
| zinc ion binding | Binding to a zinc ion (Zn). |
23 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
| asymmetric neuroblast division | The process resulting in the physical partitioning and separation of a neuroblast into two daughter cells with different developmental potentials. |
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| cell morphogenesis | The developmental process in which the size or shape of a cell is generated and organized. |
| cellular hyperosmotic response | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of detection of, or exposure to, a hyperosmotic environment, i.e. an environment with a higher concentration of solutes than the organism or cell. |
| cellular response to muramyl dipeptide | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a muramyl dipeptide stimulus. Muramyl dipeptide is derived from peptidoglycan. |
| cellular response to tumor necrosis factor | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| negative regulation of extrinsic apoptotic signaling pathway via death domain receptors | Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway via death domain receptors. |
| negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress | Any process that stops, prevents or reduces the frequency, rate or extent of intrinsic apoptotic signaling pathway in response to osmotic stress. |
| negative regulation of microtubule depolymerization | Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol. |
| negative regulation of necroptotic process | Any process that decreases the rate, frequency or extent of a necroptotic process, a necrotic cell death process that results from the activation of endogenous cellular processes, such as signaling involving death domain receptors or Toll-like receptors. |
| positive regulation of interleukin-6 production | Any process that activates or increases the frequency, rate, or extent of interleukin-6 production. |
| positive regulation of neuron differentiation | Any process that activates or increases the frequency, rate or extent of neuron differentiation. |
| positive regulation of neuron migration | Any process that activates or increases the frequency, rate or extent of neuron migration. |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| positive regulation of peptidyl-tyrosine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of tumor necrosis factor production | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
| regulation of Rho protein signal transduction | Any process that modulates the frequency, rate or extent of Rho protein signal transduction. |
| regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O15085 | ARHGEF11 | Rho guanine nucleotide exchange factor 11 | Homo sapiens (Human) | EV |
| Q9NZN5 | ARHGEF12 | Rho guanine nucleotide exchange factor 12 | Homo sapiens (Human) | EV |
| Q8R4H2 | Arhgef12 | Rho guanine nucleotide exchange factor 12 | Mus musculus (Mouse) | SS |
| Q60875 | Arhgef2 | Rho guanine nucleotide exchange factor 2 | Mus musculus (Mouse) | PR |
| Q9ES67 | Arhgef11 | Rho guanine nucleotide exchange factor 11 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRIESLTRA | RIDRSRELAS | KTREKEKMKE | AKDARYTNGH | LFTTISVSGM | TMCYACNKSI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TAKEALICPT | CNVTIHNRCK | DTLANCTKVK | QKQQKAALLK | NNTALQSVSL | RSKTTIRERP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SSAIYPSDSF | RQSLLGSRRG | RSSLSLAKSV | STTNIAGHFN | DESPLGLRRI | LSQSTDSLNM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RNRTLSVESL | IDEAEVIYSE | LMSDFEMDEK | DFAADSWSLA | VDSSFLQQHK | KEVMKQQDVI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YELIQTELHH | VRTLKIMTRL | FRTGMLEELH | LEPGVVQGLF | PCVDELSDIH | TRFLSQLLER |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RRQALCPGST | RNFVIHRLGD | LLISQFSGPS | AEQMCKTYSE | FCSRHSKALK | LYKELYARDK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RFQQFIRKVT | RPAVLKRHGV | QECILLVTQR | ITKYPLLISR | ILQHSHGIEE | ERQDLTTALG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LVKELLSNVD | EGIYQLEKGA | RLQEIYNRMD | PRAQTPVPGK | GPFGREELLR | RKLIHDGCLL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| WKTATGRFKD | VLVLLMTDVL | VFLQEKDQKY | IFPTLDKPSV | VSLQNLIVRD | IANQEKGMFL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ISAAPPEMYE | VHTASRDDRS | TWIRVIQQSV | RTCPSREDFP | LIETEDEAYL | RRIKMELQQK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DRALVELLRE | KVGLFAEMTH | FQAEEDGGSG | MALPTLPRGL | FRSESLESPR | GERLLQDAIR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EVEGLKDLLV | GPGVELLLTP | REPALPLEPD | SGGNTSPGVT | ANGEARTFNG | SIELCRADSD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SSQRDRNGNQ | LRSPQEEALQ | RLVNLYGLLH | GLQAAVAQQD | TLMEARFPEG | PERREKLCRA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NSRDGEAGRA | GAAPVAPEKQ | ATELALLQRQ | HALLQEELRR | CRRLGEERAT | EAGSLEARLR |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ESEQARALLE | REAEEARRQL | AALGQTEPLP | AEAPWARRPV | DPRRRSLPAG | DALYLSFNPP |
| 910 | 920 | 930 | 940 | 950 | 960 |
| QPSRGTDRLD | LPVTTRSVHR | NFEDRERQEL | GSPEERLQDS | SDPDTGSEEE | GSSRLSPPHS |
| 970 | 980 | ||||
| PRDFTRMQDI | PEETESRDGE | AVASES |