Q13474
PR
Gene name |
DRP2 |
Protein name |
Dystrophin-related protein 2 |
Names |
DRP-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1821 |
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 Q13474
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q13474-F1 | Predicted | AlphaFoldDB |
529 variants for Q13474
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002554812 RCV001090389 CA333089788 rs368516281 |
218 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs774673009 RCV002534311 CA10472367 RCV000659173 |
643 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1473167314 CA413908284 |
3 | P>S | No |
ClinGen TOPMed |
|
|
CA413908293 rs1369949523 |
4 | M>V | No |
ClinGen gnomAD |
|
|
rs758131270 CA10471986 |
5 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10471987 rs777289184 |
7 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA333088440 rs909100703 |
10 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs909100703 CA333088438 |
10 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
RCV000995989 rs756695526 CA10471989 |
15 | R>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA413908735 COSM1111763 rs1333133641 |
15 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 18 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413908853 rs1247226367 |
20 | Q>E | No |
ClinGen TOPMed |
|
|
CA413909027 rs1209252437 |
29 | S>I | No |
ClinGen TOPMed |
|
|
CA10471990 rs781126747 |
32 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10471991 rs201882686 COSM1111765 |
32 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA333088452 rs200044530 |
33 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1356455090 CA413909099 |
34 | T>A | No |
ClinGen TOPMed |
|
|
rs1207352496 CA413909106 |
34 | T>I | No |
ClinGen gnomAD |
|
|
CA10471995 rs768987957 |
36 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 36 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749021382 CA10471994 |
36 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413909154 rs1434686047 |
37 | H>N | No |
ClinGen gnomAD |
|
|
CA413909181 rs1186490402 |
38 | P>R | No |
ClinGen gnomAD |
|
|
rs1254070988 CA413909947 |
41 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 41 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1197551787 CA413909984 |
42 | A>S | No |
ClinGen TOPMed |
|
|
rs371873115 CA333088927 |
43 | A>S | No |
ClinGen Ensembl |
|
|
CA413910031 rs1422723109 |
45 | T>P | No |
ClinGen gnomAD |
|
|
CA413910039 rs1164908052 |
45 | T>S | No |
ClinGen gnomAD |
|
|
rs779310413 CA333088931 |
47 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413910099 rs1338079656 |
47 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779310413 CA10472014 |
47 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748422722 CA10472015 |
48 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489322241 CA413910136 |
49 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA413910141 rs1389757048 |
50 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs772405952 CA10472017 |
52 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747058818 CA10472018 |
55 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs771476479 CA10472019 |
57 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA413910403 rs1314883712 |
58 | C>G | No |
ClinGen gnomAD |
|
|
CA10472021 rs772399679 |
58 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10472023 rs142761197 |
59 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34013624 COSM3694242 CA10472024 |
60 | S>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10472027 rs764536529 |
65 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766363243 CA10472028 |
66 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413910578 rs1482911945 |
66 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA333088946 rs7066252 |
68 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10472029 VAR_033898 rs7066252 |
68 | V>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1471326289 CA413910658 |
69 | G>C | No |
ClinGen gnomAD |
|
|
rs754934754 CA10472030 |
70 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM3405771 rs1412327225 CA413910765 |
72 | G>R | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA333088952 rs939937424 |
73 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA413910808 rs1358972959 |
73 | P>L | No |
ClinGen gnomAD |
|
|
CA333088951 rs939937424 |
73 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA413910799 rs939937424 |
73 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1305121286 CA413910914 |
77 | P>S | No |
ClinGen gnomAD |
|
|
CA413910951 rs1458209095 |
78 | A>T | No |
ClinGen TOPMed |
|
|
rs761905712 CA333088955 |
80 | N>H | No |
ClinGen Ensembl |
|
|
CA10472032 rs747946771 |
81 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 81 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409354812 CA413911139 |
82 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 84 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413911297 rs1352602157 |
86 | I>R | No |
ClinGen gnomAD |
|
|
rs758763706 CA10472033 |
88 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1225234566 CA413911340 |
88 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA413911390 rs1201279153 |
89 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 91 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413911534 rs778077609 |
93 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA10472034 rs778077609 |
93 | L>V | No |
ClinGen ExAC TOPMed |
|
|
rs747128168 CA10472035 |
94 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413911584 rs1282399803 |
94 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs747128168 CA413911561 |
94 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201709518 CA10472044 |
95 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760264042 CA10472045 |
96 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM174248 rs144183424 CA10472046 |
96 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA413911865 rs1569508489 |
98 | E>G | No |
ClinGen Ensembl |
|
|
CA333089199 rs140021383 |
99 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10472047 rs140021383 |
99 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA333089198 rs140021383 |
99 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA413911920 rs1305528993 |
100 | F>L | No |
ClinGen gnomAD |
|
|
CA10472048 rs759605641 |
102 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA10472050 rs752548091 |
104 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA413912070 rs1439047333 |
105 | G>R | No |
ClinGen gnomAD |
|
|
rs1015121435 CA413912167 |
108 | Q>H | No |
ClinGen TOPMed |
|
|
rs897975497 CA333089206 |
111 | L>F | No |
ClinGen TOPMed |
|
|
rs1218856442 CA413912243 |
112 | Q>K | No |
ClinGen gnomAD |
|
|
rs998121576 CA333089208 |
112 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10472051 rs758212351 |
116 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1388829907 CA413912436 |
119 | S>R | No |
ClinGen gnomAD |
|
|
CA413912468 rs1476669300 |
119 | S>R | No |
ClinGen TOPMed |
|
|
CA10472052 rs778075385 |
121 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751689717 CA10472053 |
124 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392026858 CA413912736 |
125 | L>F | No |
ClinGen gnomAD |
|
|
RCV000585108 rs753185936 |
127 | A>missing | No |
ClinVar dbSNP |
|
|
CA413912796 rs1323125706 |
127 | A>D | No |
ClinGen gnomAD |
|
|
rs757466405 CA10472055 |
127 | A>P | No |
ClinGen ExAC TOPMed |
|
|
CA10472056 rs781175356 |
130 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA413912975 rs1362809600 |
133 | G>W | No |
ClinGen gnomAD |
|
|
rs548126798 CA10472060 |
134 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA333089222 rs767322650 |
134 | D>V | No |
ClinGen Ensembl |
|
|
rs548126798 CA10472061 |
134 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 136 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 139 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413913252 rs1340850124 |
142 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA413913334 rs1306265003 |
145 | H>R | No |
ClinGen gnomAD |
|
|
rs1226189050 CA413913319 |
145 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| rs372809310 | 146 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413913371 COSM1464380 rs1321997185 |
146 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA10472077 rs146304533 RCV000893476 |
147 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA413913697 rs755490905 |
149 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286916896 CA413913701 |
149 | M>T | No |
ClinGen gnomAD |
|
|
CA10472078 rs755490905 |
149 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441239645 CA413913906 |
153 | K>R | No |
ClinGen gnomAD |
|
|
CA333089365 rs952978009 |
155 | R>Q | No |
ClinGen TOPMed |
|
|
CA10472079 rs779203586 |
155 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 156 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10472081 rs142882172 |
156 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA333089368 rs916743159 |
156 | G>D | No |
ClinGen gnomAD |
|
|
rs933071507 CA333089372 |
159 | I>V | No |
ClinGen TOPMed |
|
|
rs745397099 CA10472083 |
162 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 166 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333430770 CA413914591 |
168 | A>G | No |
ClinGen gnomAD |
|
|
CA10472085 rs748540908 |
168 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1340483562 CA413914627 |
169 | F>L | No |
ClinGen gnomAD |
|
|
CA10472086 rs763029709 |
173 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA10472088 rs151085921 |
175 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413914849 rs1485553803 |
176 | E>K | No |
ClinGen TOPMed |
|
|
CA413914864 rs1281577723 |
177 | E>K | No |
ClinGen TOPMed |
|
|
CA413915244 rs745348781 |
185 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10472090 rs745348781 |
185 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs756298936 CA10472092 |
186 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA413916805 rs1444016122 |
188 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs778011942 CA333089764 |
190 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778011942 CA413916825 |
190 | P>R | No |
ClinGen gnomAD |
|
|
rs1226873808 CA413916823 |
190 | P>S | No |
ClinGen gnomAD |
|
|
rs768481730 CA10472104 |
191 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1265601934 CA413916843 |
192 | Q>* | No |
ClinGen gnomAD |
|
|
rs1254597875 CA413916848 |
192 | Q>H | No |
ClinGen TOPMed |
|
|
rs745963005 CA10472105 |
192 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767301512 CA10472107 |
193 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10472106 rs141871564 |
193 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1483202192 CA413916861 |
194 | I>V | No |
ClinGen TOPMed |
|
|
CA10472108 rs772970067 |
196 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772120737 CA10472109 |
197 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772120737 CA413916897 |
197 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10472110 rs766584694 |
199 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766584694 CA333089771 |
199 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10472111 rs753921064 |
199 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs960112599 CA333089774 |
201 | V>I | No |
ClinGen Ensembl |
|
|
rs755031248 CA10472112 |
205 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10472113 rs765689698 |
206 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA333089781 rs201977267 |
208 | A>T | No |
ClinGen 1000Genomes |
|
|
CA333089784 rs978457348 |
214 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA10472116 rs749587463 |
216 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA333089787 rs369730985 |
218 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1472710653 CA413917159 |
220 | V>M | No |
ClinGen TOPMed |
|
|
CA10472119 rs141205544 |
224 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748759701 CA10472120 |
224 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413917219 rs1428563933 |
225 | H>R | No |
ClinGen gnomAD |
|
|
CA333089796 rs933462285 |
226 | I>T | No |
ClinGen Ensembl |
|
|
rs201301982 CA10472122 |
226 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10472124 rs771984587 |
228 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748167677 CA10472123 |
228 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1456025690 CA413917284 |
232 | Q>K | No |
ClinGen gnomAD |
|
|
rs1320465496 CA413917330 |
236 | I>V | No |
ClinGen gnomAD |
|
|
CA10472125 rs773059872 |
238 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 238 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 239 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10472126 rs760397953 |
241 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs200422230 CA10472127 |
245 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776787561 CA10472128 |
246 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 251 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275350571 CA413917538 |
252 | G>A | No |
ClinGen gnomAD |
|
|
CA10472129 rs771279299 |
252 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336668614 CA413917547 |
253 | V>I | No |
ClinGen gnomAD |
|
|
CA413917560 rs1206634788 |
254 | R>* | No |
ClinGen gnomAD |
|
|
rs1206634788 CA413917556 |
254 | R>G | No |
ClinGen gnomAD |
|
|
rs765402344 CA10472130 |
254 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA413917578 rs1339826412 |
256 | T>S | No |
ClinGen TOPMed |
|
|
rs999625054 CA333089808 |
257 | W>* | No |
ClinGen TOPMed |
|
|
rs143515125 CA10472131 |
260 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1297327132 CA413917814 |
265 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1457490271 CA413917845 |
266 | D>G | No |
ClinGen TOPMed |
|
|
rs1390346994 CA413918009 |
273 | Q>R | No |
ClinGen TOPMed |
|
|
CA10472133 rs764691493 |
274 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369128446 CA333089865 |
278 | F>V | No |
ClinGen ESP |
|
|
CA413918242 rs1172046085 |
279 | K>E | No |
ClinGen TOPMed |
|
|
CA10472146 rs770674618 |
279 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 280 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 281 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373317724 CA10472148 |
282 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10472147 rs776262419 |
282 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs970422527 CA333089872 |
285 | M>I | No |
ClinGen Ensembl |
|
|
rs1200762256 CA413918381 |
285 | M>L | No |
ClinGen TOPMed |
|
|
rs984061402 CA333089874 |
287 | D>V | No |
ClinGen Ensembl |
|
|
rs775703252 CA10472150 |
288 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs769890866 CA10472149 |
288 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA413918551 rs1250999404 |
290 | K>R | No |
ClinGen TOPMed |
|
|
CA413918696 rs1483989067 |
294 | D>Y | No |
ClinGen TOPMed |
|
|
rs1377599280 CA413918746 |
296 | A>S | No |
ClinGen gnomAD |
|
|
CA413918752 rs1435395320 |
296 | A>V | No |
ClinGen gnomAD |
|
|
CA10472151 rs763056573 |
297 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10472152 rs764710041 |
300 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA413918839 rs1298978888 |
301 | I>V | No |
ClinGen gnomAD |
|
|
rs1373767417 CA413918970 |
306 | L>M | No |
ClinGen gnomAD |
|
|
CA413919000 rs1199346376 |
307 | S>* | No |
ClinGen TOPMed |
|
|
rs1569508849 CA413919014 |
308 | M>I | No |
ClinGen Ensembl |
|
|
CA10472153 rs752061860 |
308 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 311 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750742090 CA10472156 |
319 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413919333 rs1234956618 |
320 | R>* | No |
ClinGen gnomAD |
|
|
CA413919345 rs141757725 |
320 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1111771 rs141757725 CA10472157 |
320 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA413919391 rs1481789166 |
321 | W>* | Variant assessed as Somatic; 6.3e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413919458 rs1556419606 RCV000659172 |
325 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA333089927 rs923840594 |
326 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA413919609 rs1305550757 |
327 | S>P | No |
ClinGen gnomAD |
|
|
CA10472166 rs199620912 |
328 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA413919641 rs199620912 |
328 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10472168 rs150141178 |
334 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1347960375 CA413920072 |
337 | D>Y | No |
ClinGen TOPMed |
|
|
rs1218972051 CA413920218 |
340 | R>Q | No |
ClinGen gnomAD |
|
|
rs1322622414 CA413920214 COSM422294 |
340 | R>W | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA10472169 rs768815251 |
344 | P>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000412528 rs1057519071 CA16042212 |
347 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA333089933 rs374059898 |
347 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA413920530 rs1475105219 |
351 | S>C | No |
ClinGen gnomAD |
|
|
CA333090229 rs866655083 |
352 | S>Y | No |
ClinGen Ensembl |
|
|
CA10472181 rs757248687 |
361 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA333090235 rs868805324 |
364 | P>H | No |
ClinGen TOPMed |
|
|
CA413921683 rs868805324 |
364 | P>L | No |
ClinGen TOPMed |
|
|
CA10472183 rs745686379 |
365 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1569509045 CA413921703 |
365 | N>S | No |
ClinGen Ensembl |
|
|
CA333090237 rs934634467 |
366 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs934634467 CA413921712 |
366 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 368 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410128698 CA413922163 |
375 | A>S | No |
ClinGen gnomAD |
|
|
CA413922276 rs1311687989 |
378 | T>A | No |
ClinGen gnomAD |
|
|
rs1416170453 CA413922375 |
380 | W>* | No |
ClinGen gnomAD |
|
|
CA413922705 rs1335532627 |
389 | Y>C | No |
ClinGen gnomAD |
|
|
CA10472198 rs751069050 |
390 | Q>R | No |
ClinGen ExAC |
|
|
rs761167889 CA10472199 |
391 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1331247259 CA413923198 |
398 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 401 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413923395 rs1329715936 |
404 | R>C | No |
ClinGen gnomAD |
|
|
CA413923549 rs1331790946 |
407 | M>T | No |
ClinGen TOPMed |
|
|
rs1304886422 CA413923507 |
407 | M>V | No |
ClinGen gnomAD |
|
|
CA10472210 rs777881936 |
408 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs747521217 CA10472211 |
409 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs774929602 CA333090492 |
410 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA413923685 rs1197805711 |
410 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA413923699 rs1197805711 |
410 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs868585753 CA333090494 |
411 | R>K | No |
ClinGen Ensembl |
|
|
CA413923717 rs1330447472 |
411 | R>S | No |
ClinGen TOPMed |
|
|
rs1274770477 CA413923764 |
413 | Q>R | No |
ClinGen gnomAD |
|
|
CA10472213 rs777051552 |
415 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA333090497 rs759825823 |
417 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10472214 rs759825823 |
417 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384061140 CA413925243 |
426 | A>S | No |
ClinGen gnomAD |
|
|
rs138733969 CA10472241 |
426 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766442310 CA10472242 |
429 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs776672390 CA10472243 |
431 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759517614 CA10472244 |
432 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10472247 rs141866454 |
434 | D>Y | No |
ClinGen ESP ExAC |
|
|
rs764314114 CA10472248 |
436 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA10472250 rs757275375 |
439 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485889623 CA413925539 |
439 | E>G | No |
ClinGen gnomAD |
|
|
rs144870744 CA10472252 |
441 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA413925742 rs1188228045 |
446 | E>A | No |
ClinGen gnomAD |
|
|
CA10472253 rs139552335 |
447 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780454300 CA10472254 |
448 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413925854 rs1180209074 |
450 | C>S | No |
ClinGen TOPMed |
|
|
rs768046985 CA10472255 |
452 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 453 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10472257 rs144310243 |
457 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1023734738 CA333090647 |
461 | E>D | No |
ClinGen Ensembl |
|
|
CA413926424 rs1315075734 |
468 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10472264 rs762746845 |
474 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs6621017 CA333090670 |
475 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA413926619 rs1242260730 |
475 | S>R | No |
ClinGen gnomAD |
|
|
CA413926617 rs6621017 |
475 | S>T | No |
ClinGen TOPMed |
|
|
rs1311921392 CA413926653 |
477 | N>S | No |
ClinGen TOPMed |
|
|
rs1346545605 CA413926761 |
481 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 484 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259266636 CA413926864 |
485 | S>C | No |
ClinGen gnomAD |
|
|
rs371570852 CA10472277 |
487 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745315795 CA10472278 |
487 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
COSM173168 rs775445545 CA10472280 |
489 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1179518782 TCGA novel CA413927088 |
491 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs768534102 COSM1111777 CA10472282 |
492 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs762684013 COSM199595 CA10472281 |
492 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1252191898 CA413927110 |
493 | A>T | No |
ClinGen gnomAD |
|
|
CA413927175 rs1459415975 |
496 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs147935188 CA333090751 |
500 | I>V | No |
ClinGen ESP |
|
|
COSM1331416 CA10472284 rs190868473 |
506 | T>M | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs370305541 CA10472286 |
507 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA413927429 rs1417493975 |
509 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 510 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 512 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429462331 CA413928063 |
519 | V>L | No |
ClinGen gnomAD |
|
|
rs1438266280 CA413928091 |
520 | A>T | No |
ClinGen TOPMed |
|
|
CA10472309 COSM145338 rs765599281 |
520 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA413928159 rs1231103406 |
523 | G>A | No |
ClinGen gnomAD |
|
|
rs1380049723 CA413928220 |
525 | Q>L | No |
ClinGen TOPMed |
|
|
CA10472310 rs753122370 |
529 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10472311 rs758782031 |
529 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1230518415 CA413928353 |
530 | H>Y | No |
ClinGen gnomAD |
|
|
CA413928440 rs1254173671 |
533 | V>I | No |
ClinGen TOPMed |
|
|
rs781027218 CA10472312 |
536 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 540 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 540 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282787347 CA413928674 |
542 | P>T | No |
ClinGen TOPMed |
|
|
CA10472315 rs779675953 |
543 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 547 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1394096564 CA413928970 |
554 | S>G | No |
ClinGen gnomAD |
|
|
CA413928985 rs1351264900 |
554 | S>I | No |
ClinGen TOPMed |
|
|
CA10472316 rs140163705 |
556 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10472317 rs768644640 |
557 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10472318 rs778765111 |
558 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA10472319 rs747968199 |
561 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA333091174 rs145693976 |
561 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA333091177 rs925364201 |
565 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA333091180 rs778779918 |
565 | R>H | No |
ClinGen gnomAD |
|
|
CA10472335 rs200124907 |
569 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748131674 CA10472338 |
572 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1312173171 CA413929973 |
572 | V>L | No |
ClinGen gnomAD |
|
|
CA413930128 rs1233724003 |
574 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA413930139 rs1233724003 |
574 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781667468 CA10472339 |
575 | A>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA413930208 rs1409491457 |
576 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 578 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777609295 CA10472340 |
579 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA413930505 rs1416909790 |
584 | L>Q | No |
ClinGen gnomAD |
|
|
CA413930546 rs1569509495 |
585 | E>G | No |
ClinGen Ensembl |
|
|
CA413930667 rs1270546560 |
588 | S>F | No |
ClinGen gnomAD |
|
|
CA413930694 rs1179180677 |
589 | M>I | No |
ClinGen gnomAD |
|
|
CA413930676 rs1250915119 |
589 | M>V | No |
ClinGen TOPMed |
|
|
rs1192716520 CA413930731 |
590 | V>A | No |
ClinGen TOPMed |
|
|
rs943479423 CA333091259 |
593 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA413930816 rs1602931063 |
593 | A>V | No |
ClinGen Ensembl |
|
|
rs974780455 CA333091260 |
598 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs770039014 CA10472345 |
600 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA10472344 rs745986691 |
600 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 611 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10472346 rs775693735 |
616 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165806356 CA413931430 |
617 | P>S | No |
ClinGen gnomAD |
|
|
rs746129433 CA10472362 |
624 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA10472363 COSM1111781 rs746129433 |
624 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1461324020 CA413932748 |
624 | R>W | No |
ClinGen gnomAD |
|
|
CA413932789 rs1392960665 |
626 | L>Q | No |
ClinGen gnomAD |
|
|
rs1317884317 CA413932854 |
628 | Q>H | No |
ClinGen gnomAD |
|
|
CA10472364 rs761854393 |
628 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10472365 rs749316443 |
630 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769301689 CA10472366 |
631 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332433560 CA413933064 |
636 | T>A | No |
ClinGen gnomAD |
|
|
CA413933239 rs1232589749 |
642 | R>G | No |
ClinGen gnomAD |
|
|
CA413933383 rs1489162383 |
646 | G>D | No |
ClinGen gnomAD |
|
|
rs1488374202 CA413933480 |
650 | H>Y | No |
ClinGen gnomAD |
|
|
rs773611850 CA10472370 |
651 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569509698 CA413933868 |
660 | T>A | No |
ClinGen Ensembl |
|
|
CA413933874 rs1258745059 |
660 | T>I | No |
ClinGen gnomAD |
|
|
rs760968612 CA10472388 |
665 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10472389 rs769455689 |
666 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10472391 rs201072667 |
678 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1111785 rs762557288 CA10472392 |
678 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10472393 rs762557288 |
678 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA413934525 rs1389587306 |
679 | S>C | No |
ClinGen gnomAD |
|
|
CA413934544 rs1406685834 |
680 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1308526080 CA413934605 |
681 | H>R | No |
ClinGen gnomAD |
|
|
CA10472395 rs761725917 |
685 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 687 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241743573 CA413934880 |
690 | G>S | No |
ClinGen gnomAD |
|
|
CA333091870 rs908279673 |
695 | Q>P | No |
ClinGen Ensembl |
|
|
rs373963470 CA10472397 |
697 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 702 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773231267 CA10472399 |
705 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750797084 CA10472409 |
706 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA413935341 rs1366311659 |
707 | A>T | No |
ClinGen gnomAD |
|
|
CA413935418 rs1602934258 |
709 | S>C | No |
ClinGen Ensembl |
|
|
CA10472411 rs370505047 COSM1292895 |
710 | P>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10472412 rs370505047 |
710 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA333091920 rs955226171 |
711 | M>I | No |
ClinGen TOPMed |
|
|
CA10472414 rs766238702 |
711 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10472416 RCV000762661 rs766334048 |
711 | M>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs766238702 CA10472415 |
711 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259144755 CA413935589 |
714 | H>R | No |
ClinGen gnomAD |
|
|
CA333091923 COSM3363723 rs201156733 |
715 | A>T | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1488884411 CA413935626 |
716 | D>G | No |
ClinGen gnomAD |
|
|
CA10472418 COSM1204555 rs144921515 |
716 | D>N | oesophagus large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC gnomAD |
|
CA10472419 rs765440764 |
717 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA413935721 rs1417694197 |
719 | S>T | No |
ClinGen gnomAD |
|
|
rs752738977 CA10472420 |
720 | R>* | No |
ClinGen ExAC gnomAD |
|
|
COSM1111789 CA10472421 rs758462829 |
720 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA333091930 rs868723521 |
721 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 729 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10472433 rs772826854 |
731 | M>I | No |
ClinGen ExAC |
|
|
rs1162664135 CA413936242 |
731 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 732 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 738 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413936553 rs1342937629 |
744 | S>F | No |
ClinGen gnomAD |
|
|
CA413936549 rs1342937629 |
744 | S>Y | No |
ClinGen gnomAD |
|
|
rs867813768 CA333091965 |
747 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10472450 rs777427059 |
751 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 752 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10472451 rs201693431 COSM3405772 |
757 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs771013317 CA10472452 |
760 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA413908687 rs1360127862 |
763 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1450805858 CA413908732 |
764 | D>G | No |
ClinGen gnomAD |
|
|
CA413908790 rs769674969 |
765 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10472455 rs769674969 |
765 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10472453 rs778563724 |
765 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 766 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279984057 CA413908794 |
766 | E>K | No |
ClinGen TOPMed |
|
|
rs1311588775 CA413908912 |
768 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 770 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277636998 CA413909072 |
776 | S>I | No |
ClinGen gnomAD |
|
|
rs1278278381 CA413909130 |
780 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10472460 rs751654063 |
783 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA413909225 rs751654063 |
783 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1602935415 CA413909268 |
786 | Q>H | No |
ClinGen Ensembl |
|
|
rs1171697141 CA413909311 |
790 | A>D | No |
ClinGen gnomAD |
|
|
CA10472462 rs768044789 |
790 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA413909326 rs1156520080 |
791 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 796 | N>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780525649 CA10472465 |
797 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756556172 CA10472464 |
797 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255950422 CA413909498 |
799 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 803 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10472471 rs770602445 |
805 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA413909537 rs1239457122 |
805 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413909538 rs1239457122 |
805 | R>P | No |
ClinGen gnomAD |
|
|
rs745872373 CA10472473 RCV001810673 |
808 | W>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 809 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413909579 rs1197689984 |
811 | E>K | No |
ClinGen gnomAD |
|
|
CA333098880 rs868202361 |
813 | A>E | No |
ClinGen Ensembl |
|
| TCGA novel | 814 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268895242 CA413909621 |
817 | P>S | No |
ClinGen gnomAD |
|
|
CA413909629 rs1478819725 |
818 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10472474 rs769610630 |
820 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10472475 rs775363886 |
821 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413909670 rs1173533079 |
822 | G>S | No |
ClinGen gnomAD |
|
|
rs768891455 CA10472477 |
825 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs373399175 CA10472476 |
825 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1482694820 CA413909734 |
827 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 829 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413909776 rs1181276335 |
830 | H>N | No |
ClinGen TOPMed |
|
|
rs1333006621 CA413909796 |
831 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA413909794 rs1333006621 |
831 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA413909799 rs766073418 |
831 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA10472478 rs766073418 |
831 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767635431 CA10472480 |
837 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 837 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413909943 rs767635431 |
837 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259966164 CA413909957 |
838 | E>K | No |
ClinGen gnomAD |
|
|
CA413910030 rs1602937132 |
839 | A>V | No |
ClinGen Ensembl |
|
|
rs761312392 CA10472482 COSM1204553 |
840 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs180918321 CA10472483 |
840 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1267480664 CA413910068 |
841 | I>V | No |
ClinGen gnomAD |
|
|
rs138692691 CA10472485 |
843 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10472484 rs754249856 |
843 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA333098886 rs934962184 |
844 | Q>K | No |
ClinGen Ensembl |
|
|
rs1015772464 CA333098887 |
846 | K>R | No |
ClinGen TOPMed |
|
|
CA10472487 rs751303393 |
848 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1005595951 CA333098888 |
848 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10472488 rs140382549 |
851 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1569509960 COSM1111798 CA413910419 |
852 | R>C | ovary Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA413910428 rs780817758 |
852 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780817758 CA10472489 |
852 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs754778339 CA10472490 |
855 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1418082282 CA413910526 |
855 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA413910696 rs1288136512 |
859 | H>L | No |
ClinGen TOPMed |
|
|
CA10472492 rs779809533 |
862 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA413911109 rs1569509968 |
868 | Q>R | No |
ClinGen Ensembl |
|
|
rs1243984694 CA413911147 |
869 | R>C | No |
ClinGen gnomAD |
|
|
CA10472496 rs748427909 |
869 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA333098891 rs867619353 |
873 | L>I | No |
ClinGen Ensembl |
|
|
CA10472497 rs772278748 |
876 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA333098897 rs772278748 |
876 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA333099507 rs1010898766 |
878 | P>S | No |
ClinGen TOPMed |
|
|
COSM1111800 CA10472503 rs765750077 |
880 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs756971867 CA10472505 |
881 | S>L | No |
ClinGen ExAC |
|
|
CA10472504 rs775365963 |
881 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10472506 rs767023589 |
883 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA10472508 rs749974584 |
884 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420272910 CA413913063 |
888 | G>V | No |
ClinGen TOPMed |
|
|
rs34562102 CA10472510 |
889 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755543611 CA10472509 |
889 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1456914236 CA413913135 |
891 | L>V | No |
ClinGen TOPMed |
|
|
rs754895982 CA10472512 |
892 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs747873353 CA10472514 |
896 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1356828493 CA413913518 |
899 | E>K | No |
ClinGen gnomAD |
|
|
rs773263843 CA10472516 |
900 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs35153475 CA333099565 |
902 | H>P | No |
ClinGen Ensembl |
|
|
rs1174296882 CA413913706 |
903 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10472517 rs747222266 |
903 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1005927669 CA413913708 |
904 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 904 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770961264 CA10472518 |
904 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA333099577 rs1005927669 |
904 | R>W | No |
ClinGen TOPMed |
|
|
CA10472519 rs776834891 |
905 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413913723 rs776834891 |
905 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575075803 CA10472520 |
907 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA413914006 rs1408152727 |
910 | T>A | No |
ClinGen gnomAD |
|
|
CA10472521 rs770355155 |
910 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 911 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267314638 CA413914061 |
912 | D>V | No |
ClinGen TOPMed |
|
|
CA413914083 rs1377068595 |
913 | T>S | No |
ClinGen gnomAD |
|
|
rs767235632 CA10472524 |
914 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10472525 rs372434673 |
915 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1311954052 CA413914178 |
915 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1311954052 CA413914172 |
915 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10472526 rs372434673 |
915 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
TCGA novel CA413914641 rs1602938874 |
917 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA413914989 rs1199650511 |
926 | V>I | No |
ClinGen TOPMed |
|
|
rs1461584625 CA413915067 |
927 | S>R | No |
ClinGen gnomAD |
|
|
CA333099795 rs868110818 |
929 | C>* | No |
ClinGen TOPMed |
|
|
rs1015016172 CA333099799 |
930 | L>S | No |
ClinGen TOPMed |
|
|
rs1291311458 CA413915358 |
932 | D>G | No |
ClinGen gnomAD |
|
|
rs1291311458 CA413915347 |
932 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 934 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413915584 rs1375458337 |
937 | L>V | No |
ClinGen TOPMed |
|
|
CA10472542 rs141816203 |
938 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755247034 CA10472543 |
938 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768954011 CA10472544 |
939 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs867707889 CA333099835 |
940 | A>T | No |
ClinGen Ensembl |
|
|
rs1448580473 CA413915772 |
942 | P>S | No |
ClinGen TOPMed |
|
|
CA413915825 rs1357064113 |
943 | S>G | No |
ClinGen TOPMed |
|
|
rs1259322036 CA413915871 |
945 | R>* | No |
ClinGen gnomAD |
|
|
rs746910173 COSM1177004 CA333099856 |
945 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs191144884 CA10472546 |
948 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
No associated diseases with Q13474
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| zinc ion binding | Binding to a zinc ion (Zn). |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| central nervous system development | The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. |
| synapse organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell). |
| synaptic signaling | Cell-cell signaling to, from or within a synapse. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQPMVMQGCP | YTLPRCHDWQ | AADQFHHSSS | LRSTCPHPQV | RAAVTSPAPP | QDGAGVPCLS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LKLLNGSVGA | SGPLEPPAMN | LCWNEIKKKS | HNLRARLEAF | SDHSGKLQLP | LQEIIDWLSQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KDEELSAQLP | LQGDVALVQQ | EKETHAAFME | EVKSRGPYIY | SVLESAQAFL | SQHPFEELEE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PHSESKDTSP | KQRIQNLSRF | VWKQATVASE | LWEKLTARCV | DQHRHIERTL | EQLLEIQGAM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EELSTTLSQA | EGVRATWEPI | GDLFIDSLPE | HIQAIKLFKE | EFSPMKDGVK | LVNDLAHQLA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ISDVHLSMEN | SQALEQINVR | WKQLQASVSE | RLKQLQDAHR | DFGPGSQHFL | SSSVQVPWER |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AISPNKVPYY | INHQAQTTCW | DHPKMTELYQ | TLADLNNIKF | SAYRTAMKLR | RVQKALRLDL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VTLTTALEIF | NEHDLQASEH | VMDVVEVIHC | LTALYERLEE | ERGILVNVPL | CVDMSLNWLL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NVFDSGRSGK | MRALSFKTGI | ACLCGTEVKE | KLQYLFSQVA | NSGSQCDQRH | LGVLLHEAIQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VPRQLGEVAA | FGGSNVEPSV | RSCFRFSTGK | PVIEASQFLE | WVNLEPQSMV | WLAVLHRVTI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AEQVKHQTKC | SICRQCPIKG | FRYRSLKQFN | VDICQTCFLT | GRASKGNKLH | YPIMEYYTPT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TSSENMRDFA | TTLKNKFRSK | HYFSKHPQRG | YLPVQSVLEA | DYSETPASSP | MWPHADTHSR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| IEHFASRLAE | MESQNCSFFN | DSLSPDDSID | EDQYLLRHSS | PITDREPAFG | QQAPCSVATE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SKGELQKILA | HLEDENRILQ | GELRRLKWQH | EEAAEAPSLA | DGSTEAATDH | RNEELLAEAR |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ILRQHKSRLE | TRMQILEDHN | KQLESQLQRL | RELLLQPPTE | SDGSGSAGSS | LASSPQQSEG |
| 910 | 920 | 930 | 940 | 950 | |
| SHPREKGQTT | PDTEAADDVG | SKSQDVSLCL | EDIMEKLRHA | FPSVRSSDVT | ANTLLAS |