O94919
PR
Gene name |
ENDOD1 (KIAA0830) |
Protein name |
Endonuclease domain-containing 1 protein |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23052 |
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 O94919
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O94919-F1 | Predicted | AlphaFoldDB |
455 variants for O94919
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1555109605 | 1 | M>? | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA227062308 rs3740855 |
5 | R>C | No |
ClinGen Ensembl |
|
|
rs773581617 CA227062310 |
6 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs773581617 CA227062309 |
6 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1591005947 CA382468924 |
7 | L>F | No |
ClinGen Ensembl |
|
|
rs1555109615 CA382468952 |
11 | S>R | No |
ClinGen gnomAD |
|
|
rs868994321 CA382468955 |
12 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA382468966 rs1555109618 |
13 | F>L | No |
ClinGen gnomAD |
|
|
CA6238222 rs782489173 |
14 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA382468967 rs1555109619 |
14 | A>T | No |
ClinGen gnomAD |
|
|
rs782489173 CA382468971 |
14 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1339574718 CA382468973 |
15 | L>V | No |
ClinGen TOPMed |
|
|
CA382468983 rs1555109623 |
17 | G>R | No |
ClinGen gnomAD |
|
|
rs782274067 CA6238224 |
19 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555109625 CA382469000 |
20 | E>* | No |
ClinGen gnomAD |
|
|
CA382469012 rs1555109630 |
22 | R>G | No |
ClinGen gnomAD |
|
|
rs1555109634 CA382469023 |
24 | V>M | No |
ClinGen gnomAD |
|
|
CA6238225 rs782412680 |
25 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1555109637 CA382469039 |
26 | E>V | No |
ClinGen gnomAD |
|
|
CA382469046 rs1380791028 |
27 | E>G | No |
ClinGen TOPMed |
|
|
rs868911009 CA382469061 |
29 | A>D | No |
ClinGen Ensembl |
|
|
rs1555109643 CA382469064 |
30 | G>S | No |
ClinGen gnomAD |
|
|
CA382469084 rs1282927157 |
33 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1282927157 CA382469086 |
33 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6238229 rs369404308 |
35 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382469110 rs1555109648 |
36 | K>T | No |
ClinGen Ensembl |
|
|
rs1310190281 CA382469142 |
40 | A>D | No |
ClinGen TOPMed |
|
|
rs1565441909 CA382469141 |
40 | A>S | No |
ClinGen Ensembl |
|
|
CA227062314 CA382469146 rs978523931 |
41 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 42 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535089056 CA382469154 |
42 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6238232 rs535089056 |
42 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382469160 rs1165837982 |
43 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1165837982 CA382469158 |
43 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs782165214 CA6238235 |
44 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238236 rs782759923 |
44 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA382469166 rs782473706 |
45 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782473706 CA6238238 |
45 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782747375 CA6238239 |
45 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA382469169 rs1555109654 |
46 | G>R | No |
ClinGen gnomAD |
|
|
rs781849140 CA6238243 |
48 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA382469184 rs1555109660 |
48 | A>V | No |
ClinGen gnomAD |
|
|
CA382469211 rs868929200 |
52 | H>Q | No |
ClinGen TOPMed |
|
|
CA382469210 rs1323155328 |
52 | H>R | No |
ClinGen TOPMed |
|
|
CA382469207 rs1221919708 |
52 | H>Y | No |
ClinGen TOPMed |
|
|
rs782225378 CA6238247 |
55 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6238248 rs782307693 |
56 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs184181020 CA227062315 |
56 | C>Y | No |
ClinGen 1000Genomes |
|
|
rs782592237 CA6238249 |
57 | Q>K | No |
ClinGen ExAC |
|
|
rs1555109666 CA382469247 |
58 | R>G | No |
ClinGen gnomAD |
|
|
rs1555109668 CA382469269 |
61 | G>D | No |
ClinGen gnomAD |
|
|
rs1351623088 CA382469267 |
61 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6238250 rs782289289 |
62 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6238251 rs566383709 |
64 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 66 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6238252 rs781990659 |
66 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA382469311 rs1555109675 |
68 | L>F | No |
ClinGen gnomAD |
|
|
rs782344704 CA6238254 |
69 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1555109680 CA382469318 |
69 | Y>C | No |
ClinGen gnomAD |
|
|
CA6238253 rs782129948 |
69 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1555109684 CA382469322 |
70 | S>G | No |
ClinGen gnomAD |
|
|
rs1555109685 CA382469326 |
70 | S>N | No |
ClinGen gnomAD |
|
|
CA382469334 rs1555109686 |
71 | T>I | No |
ClinGen gnomAD |
|
|
CA6238255 rs781966714 |
72 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA382469337 rs781966714 |
72 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA382469336 rs1555109688 |
72 | R>W | No |
ClinGen gnomAD |
|
|
CA382469344 rs1555109691 |
73 | D>E | No |
ClinGen gnomAD |
|
|
CA6238256 rs782053045 |
73 | D>N | No |
ClinGen ExAC |
|
|
CA6238257 rs782794401 |
74 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382469357 rs1373131657 |
75 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1555109692 CA382469354 |
75 | I>S | No |
ClinGen gnomAD |
|
|
CA227062316 rs909876449 |
76 | P>L | No |
ClinGen TOPMed |
|
|
rs539609900 CA6238258 |
77 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1459578758 CA382469365 |
77 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1459578758 CA382469363 |
77 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA601195475 rs1555109695 |
77 | V>S | No |
ClinGen gnomAD |
|
|
rs1457881644 CA382469379 |
79 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs558314943 CA6238260 |
80 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382469386 rs1184341594 |
80 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1555109701 CA382469397 |
82 | R>C | No |
ClinGen gnomAD |
|
|
CA382469400 rs1249481280 |
82 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1555109701 CA382469395 |
82 | R>S | No |
ClinGen gnomAD |
|
|
CA382469411 rs934114343 |
84 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs934114343 CA227062318 |
84 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs892763592 CA227062320 |
86 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382469422 rs892763592 |
86 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA382469419 rs1212490429 |
86 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782475003 CA6238263 |
88 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782475003 CA382469432 |
88 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781803507 CA6238265 |
89 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA227062321 rs1009817200 |
90 | G>A | No |
ClinGen Ensembl |
|
|
rs367564707 CA6238266 |
90 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6238268 rs782253502 |
92 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782253502 CA382469450 |
92 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238269 rs782399805 |
93 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782399805 CA382469460 |
93 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555109711 CA382469466 |
94 | R>P | No |
ClinGen gnomAD |
|
|
rs782596199 CA6238270 |
96 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382469487 rs1363185651 |
98 | E>Q | No |
ClinGen TOPMed |
|
|
rs1176499687 CA382469500 |
99 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1176499687 CA382469499 |
99 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1555109722 CA382469497 |
99 | P>S | No |
ClinGen gnomAD |
|
|
CA382469504 rs1555109727 |
100 | Q>P | No |
ClinGen Ensembl |
|
| rs899281622 | 101 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs899281622 CA227065677 |
101 | I>M | No |
ClinGen Ensembl |
|
|
CA382461505 rs1363930626 |
101 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6238283 rs746016010 |
102 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6238284 rs772394084 |
104 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA6238285 rs780475468 |
105 | N>S | No |
ClinGen ExAC |
|
|
CA227065678 rs538947351 |
106 | S>G | No |
ClinGen 1000Genomes |
|
|
CA382461568 rs1319961140 |
106 | S>R | No |
ClinGen TOPMed |
|
|
CA382461578 rs1331118138 |
107 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs747329560 CA6238286 |
107 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764362909 CA6238288 |
111 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1565449757 CA382461631 |
112 | I>N | No |
ClinGen Ensembl |
|
|
rs773820380 CA6238291 |
114 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759094081 CA6238292 |
115 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1029143164 CA227065679 |
115 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA227065680 rs953535823 |
116 | E>Q | No |
ClinGen TOPMed |
|
|
rs1456264369 CA382461709 |
118 | I>T | No |
ClinGen gnomAD |
|
|
rs767106232 CA6238293 |
118 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA382461714 rs1591021938 |
119 | T>P | No |
ClinGen Ensembl |
|
|
CA227065681 rs987698800 |
120 | S>F | No |
ClinGen TOPMed |
|
|
CA6238294 rs369151620 |
120 | S>P | No |
ClinGen ESP ExAC TOPMed |
|
|
rs760447760 CA6238295 |
121 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs763807885 CA6238296 |
122 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs753722350 CA6238297 |
123 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238298 rs757140195 |
125 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238299 rs778952097 |
126 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA227065682 rs965080410 |
126 | S>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 129 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6238301 rs758577329 |
131 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs544871242 CA227065683 |
132 | T>A | No |
ClinGen TOPMed |
|
|
rs1565449798 CA382461889 |
134 | Y>* | No |
ClinGen Ensembl |
|
| TCGA novel | 134 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382461891 rs1385245288 |
135 | L>I | No |
ClinGen gnomAD |
|
|
rs747239377 CA6238303 |
136 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3710282 rs1346222391 CA382461918 |
137 | S>F | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA382461926 rs1329836712 |
138 | D>V | No |
ClinGen TOPMed |
|
|
rs769008677 CA6238304 |
139 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs781398763 CA6238305 |
140 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs770176265 CA6238307 |
142 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs773730577 CA6238308 |
144 | L>F | No |
ClinGen ExAC |
|
|
rs759006140 CA6238309 |
144 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs75611740 CA227065684 |
145 | Y>F | No |
ClinGen Ensembl |
|
|
CA382462017 rs1207632903 |
146 | P>T | No |
ClinGen gnomAD |
|
|
rs201274850 CA227065685 |
147 | F>L | No |
ClinGen 1000Genomes |
|
|
rs1477323248 CA382462068 |
148 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA382462130 rs1435173793 |
152 | D>N | No |
ClinGen TOPMed |
|
|
CA6238311 rs775062117 |
152 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs757321589 CA227065686 |
153 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs760228178 CA6238312 |
154 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457062761 CA382462179 |
155 | V>L | No |
ClinGen TOPMed |
|
|
CA382462177 rs1457062761 |
155 | V>M | No |
ClinGen TOPMed |
|
|
CA6238314 rs753548277 |
156 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs989216681 CA227065687 |
158 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1295488807 CA382462237 |
158 | F>Y | No |
ClinGen gnomAD |
|
|
rs1366321850 CA382462246 |
159 | T>P | No |
ClinGen gnomAD |
|
|
CA382462255 rs1565449832 |
159 | T>S | No |
ClinGen Ensembl |
|
|
rs761721208 CA6238315 |
163 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA382462328 rs1296378628 |
164 | A>G | No |
ClinGen gnomAD |
|
|
rs765221095 CA6238316 |
165 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1431727685 CA382462340 |
165 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs750417974 CA6238317 |
166 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238318 rs758486395 |
167 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 168 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382462424 rs1591022021 |
170 | F>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 171 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382462453 rs1293463323 |
171 | Q>L | No |
ClinGen gnomAD |
|
|
rs141647021 CA382462464 |
172 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141647021 CA6238321 |
172 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756532795 CA382462498 |
173 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238324 rs756532795 |
173 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238322 rs200694967 |
173 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6238325 rs778182601 |
174 | W>* | No |
ClinGen ExAC |
|
| TCGA novel | 174 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382462554 rs1310136979 |
177 | N>S | No |
ClinGen TOPMed |
|
|
rs199849813 CA227065689 |
183 | D>G | No |
ClinGen 1000Genomes |
|
|
rs771483722 CA6238327 COSM690886 |
183 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6238328 rs202118309 |
184 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1422407923 CA382462704 |
184 | R>Q | No |
ClinGen gnomAD |
|
|
CA6238329 rs202118309 |
184 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776372902 CA6238331 |
185 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs200337131 CA227065690 |
185 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 187 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761477477 CA6238332 |
188 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432889973 CA382462815 |
190 | C>* | No |
ClinGen gnomAD |
|
|
rs778881994 CA6238334 |
190 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6238336 rs766492378 |
191 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs572894638 CA6238335 |
191 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1316830549 CA382462855 |
193 | G>R | No |
ClinGen gnomAD |
|
|
rs201560690 CA227065692 |
194 | E>G | No |
ClinGen Ensembl |
|
|
rs1238887927 CA382462914 |
196 | L>V | No |
ClinGen gnomAD |
|
|
CA382462937 rs1318180781 |
197 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs752968117 CA6238340 |
197 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1046312627 CA227065694 |
199 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 204 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382463069 rs1464805816 |
205 | S>* | No |
ClinGen TOPMed |
|
|
rs200530612 CA6238344 |
206 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382463104 rs1176999607 |
207 | Y>* | No |
ClinGen gnomAD |
|
|
rs75384502 CA6238345 |
208 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1159796904 CA382463155 |
210 | K>E | No |
ClinGen gnomAD |
|
|
rs1358526688 CA382463189 |
211 | D>E | No |
ClinGen gnomAD |
|
|
CA227065696 rs923134732 |
212 | K>E | No |
ClinGen TOPMed |
|
|
CA6238346 rs746458945 |
214 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768248122 CA6238347 |
216 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs768248122 CA382463242 |
216 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 217 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA227065697 rs748042423 |
218 | F>V | No |
ClinGen gnomAD |
|
|
CA227065698 rs780609616 |
220 | W>* | No |
ClinGen Ensembl |
|
|
rs200076667 CA6238348 |
220 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769629603 CA6238351 |
224 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1565449973 CA382463387 |
225 | C>W | No |
ClinGen Ensembl |
|
|
rs1310974369 CA382463400 |
226 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs773138008 CA6238352 |
226 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1310974369 CA382463403 |
226 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762889210 CA382463410 |
227 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA6238353 rs762889210 |
227 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6238354 rs375775352 |
229 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA227065699 rs933166917 |
230 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774376596 CA6238355 |
230 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs759465806 CA6238356 |
231 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767644730 CA6238357 |
232 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA382463503 rs1470612457 |
233 | A>T | No |
ClinGen gnomAD |
|
|
rs1190697573 CA382463521 |
234 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382463576 rs1479453549 |
236 | F>L | No |
ClinGen gnomAD |
|
|
CA382463584 rs1343813031 |
237 | V>F | No |
ClinGen TOPMed |
|
|
rs1294852241 CA382463596 |
238 | K>E | No |
ClinGen TOPMed |
|
|
rs1227008434 CA382463603 |
238 | K>R | No |
ClinGen TOPMed |
|
|
CA6238361 rs374060470 |
241 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6238360 rs200529219 |
241 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757643466 CA6238363 |
242 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6238362 rs757643466 |
242 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA382463693 rs1308995012 |
243 | S>G | No |
ClinGen TOPMed |
|
|
CA382463696 rs1431905393 |
243 | S>N | No |
ClinGen TOPMed |
|
|
CA6238365 rs754389336 |
245 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA6238364 rs61745320 |
245 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382463762 rs1225954425 |
246 | I>T | No |
ClinGen gnomAD |
|
|
CA6238367 rs747729485 |
248 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA227065700 rs1019102869 |
249 | V>M | No |
ClinGen Ensembl |
|
|
rs758355429 CA6238368 |
250 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA382463823 rs1317736118 |
250 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs530292257 CA6238369 |
252 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770853866 CA6238371 |
253 | D>E | No |
ClinGen ExAC |
|
|
CA6238370 rs749050295 |
253 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA227065702 rs968071970 |
253 | D>Y | No |
ClinGen Ensembl |
|
|
CA6238372 rs774097609 |
256 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774097609 CA227065704 |
256 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382463948 rs1421960673 |
258 | L>I | No |
ClinGen TOPMed |
|
|
rs957662704 CA227065705 |
259 | P>A | No |
ClinGen TOPMed |
|
|
rs201128758 CA6238374 |
260 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6238377 rs566944930 |
270 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 271 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165957010 CA382464172 |
274 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 276 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382464197 rs1421308261 |
276 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6238378 rs754094094 |
277 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1426854286 CA382464217 |
278 | K>E | No |
ClinGen gnomAD |
|
|
CA6238379 rs762101609 |
280 | K>R | No |
ClinGen ExAC gnomAD |
|
| rs1203814956 | 282 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs916294940 CA227065706 |
282 | I>V | No |
ClinGen TOPMed |
|
|
rs1365141869 CA382464291 |
284 | E>* | No |
ClinGen Ensembl |
|
|
CA6238380 rs527831603 |
284 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1406216607 CA382464296 |
284 | E>D | No |
ClinGen gnomAD |
|
|
CA6238381 rs768953877 |
285 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA227065709 rs982389633 |
290 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758941370 CA6238382 |
291 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780467610 CA6238383 |
293 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA227065710 rs374420355 |
294 | R>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6238384 rs200901212 |
294 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6238385 COSM256855 rs200901212 |
294 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6238387 rs748962440 |
296 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs778761842 CA6238389 |
297 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA382464433 rs1243694010 |
297 | Q>P | No |
ClinGen gnomAD |
|
|
CA382464442 rs1475607054 |
298 | S>P | No |
ClinGen gnomAD |
|
|
CA382464441 rs1475607054 |
298 | S>T | No |
ClinGen gnomAD |
|
|
rs570877371 CA6238390 |
300 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1383035931 CA382464476 |
301 | S>C | No |
ClinGen gnomAD |
|
|
CA382464513 rs1426115220 |
304 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1426115220 CA382464511 |
304 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs372972415 CA227065711 |
305 | L>P | No |
ClinGen Ensembl |
|
|
rs61734147 CA6238391 |
306 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6238393 rs760708896 |
308 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382464545 rs1359343743 |
308 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1359343743 CA382464544 |
308 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA382464555 rs1320822418 |
309 | R>K | No |
ClinGen gnomAD |
|
|
rs768730277 CA6238394 |
310 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376494105 CA227065712 |
314 | T>I | No |
ClinGen ESP TOPMed |
|
|
rs1313305126 CA382464612 |
315 | L>V | No |
ClinGen gnomAD |
|
|
CA382464658 rs1285491218 |
319 | E>D | No |
ClinGen gnomAD |
|
|
CA6238396 rs762009088 |
320 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1203373492 CA382464667 |
320 | A>V | No |
ClinGen gnomAD |
|
|
CA6238398 rs750770456 |
322 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763277422 CA6238399 |
323 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382464704 rs1240979150 |
324 | S>T | No |
ClinGen gnomAD |
|
|
CA6238400 rs766867842 |
325 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs752115019 CA6238401 |
325 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs376163495 CA6238402 |
326 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6238404 rs763683444 |
326 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238403 rs763683444 |
326 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382464754 rs1591022331 |
328 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 329 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565450119 CA382464769 |
330 | K>E | No |
ClinGen Ensembl |
|
|
CA227065714 rs923872940 |
332 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1310932487 CA382464797 |
332 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6238406 rs184092436 |
332 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA227065715 rs920611514 |
337 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA382464878 rs1321093880 |
339 | F>L | No |
ClinGen TOPMed |
|
|
CA382464874 rs1453729575 |
339 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA227065716 rs930603938 |
339 | F>V | No |
ClinGen TOPMed |
|
|
rs778475540 CA6238407 |
341 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382464908 rs1565450141 |
342 | L>F | No |
ClinGen Ensembl |
|
|
rs1157750088 CA382464921 |
343 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 344 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334100610 CA382464948 |
345 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA382464961 rs1196152306 |
346 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA382464956 rs1241315963 |
346 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6238408 rs551599857 |
347 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238409 rs536438961 |
348 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779902269 CA6238410 |
349 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs3740862 VAR_022044 CA6238411 |
350 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs768638251 CA6238412 |
351 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs776689266 CA6238413 |
352 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382465017 rs1203949436 |
352 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6238414 rs748218085 |
353 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 354 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382465057 rs1478028005 |
355 | K>N | No |
ClinGen gnomAD |
|
|
rs773335310 CA6238416 |
355 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs766665303 CA6238418 |
357 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA382465074 rs1408827126 |
357 | I>V | No |
ClinGen gnomAD |
|
|
CA6238419 rs774914524 |
359 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6238421 rs200559465 |
360 | F>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6238420 rs200559465 |
360 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382465131 rs1329629880 |
362 | W>* | No |
ClinGen gnomAD |
|
|
CA382465137 rs1330581568 |
362 | W>* | No |
ClinGen gnomAD |
|
|
CA6238423 rs61740357 |
363 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222876411 CA382465168 |
365 | T>I | No |
ClinGen gnomAD |
|
|
CA6238425 rs764907006 |
366 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA382465184 rs1325538655 |
367 | Q>K | No |
ClinGen gnomAD |
|
|
CA6238426 rs188091415 |
367 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1591022439 CA382465199 |
368 | V>L | No |
ClinGen Ensembl |
|
|
rs368980264 CA6238429 |
370 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382465229 rs1250689198 |
371 | G>S | No |
ClinGen gnomAD |
|
|
CA6238430 rs746872734 |
371 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs754879387 CA6238431 |
372 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 373 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781314840 CA227065719 |
373 | E>D | No |
ClinGen Ensembl |
|
|
CA382465278 rs1432124632 |
375 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781157685 CA6238432 |
378 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs957695086 CA227065720 |
378 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA227065721 rs957695086 |
378 | R>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 379 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748211098 CA6238433 |
380 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1010542902 CA227065722 |
380 | G>V | No |
ClinGen gnomAD |
|
|
CA6238434 rs769766253 |
382 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1170406239 CA382465351 |
383 | T>S | No |
ClinGen TOPMed |
|
|
CA382465359 rs1390291828 |
384 | I>T | No |
ClinGen TOPMed |
|
|
CA227065724 rs1023299886 |
384 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382465382 rs1189930710 |
386 | Y>* | No |
ClinGen TOPMed |
|
|
CA382465374 rs1347331363 |
386 | Y>H | No |
ClinGen gnomAD |
|
|
rs773423805 CA6238435 |
387 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs115578164 CA6238437 |
388 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6238438 rs774820873 |
389 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1565450235 CA382465448 |
390 | I>T | No |
ClinGen Ensembl |
|
|
rs1358239595 CA382465438 |
390 | I>V | No |
ClinGen gnomAD |
|
|
rs1219647706 CA382465456 |
391 | G>W | No |
ClinGen gnomAD |
|
|
rs775889885 CA6238441 |
394 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444447442 CA382465567 |
396 | S>R | No |
ClinGen TOPMed |
|
|
rs200521687 CA6238442 |
399 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs764670240 CA6238443 |
400 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA227065725 rs927818049 |
403 | K>Q | No |
ClinGen Ensembl |
|
|
CA6238444 rs750011484 |
403 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs181056490 CA6238448 |
405 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs181056490 CA6238447 |
405 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 406 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs920476862 CA227065726 |
408 | V>F | No |
ClinGen Ensembl |
|
|
CA382465902 rs1165549656 |
409 | I>V | No |
ClinGen gnomAD |
|
|
COSM1510462 rs1343102015 CA382466007 |
412 | L>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6238451 rs756134244 |
413 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6238453 rs377177603 |
414 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs543832194 CA6238452 |
414 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771252357 CA382466163 |
416 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771252357 CA6238454 |
416 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238455 rs779297815 |
417 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310559334 CA382466279 |
420 | L>P | No |
ClinGen gnomAD |
|
|
CA6238458 rs776009926 |
425 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238459 rs199801386 |
425 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 426 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6238461 rs772566582 |
430 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542402617 CA6238462 |
432 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6238463 rs200109009 |
432 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA382466540 rs1385995537 |
434 | L>P | No |
ClinGen gnomAD |
|
|
rs751246511 CA6238464 |
435 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 436 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6238467 rs202063615 |
438 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6238466 rs202063615 |
438 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753808063 CA6238470 |
440 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA6238471 rs757441083 |
440 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs753808063 CA382466632 |
440 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA382466664 rs1316679987 |
441 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6238472 rs552727877 |
442 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382466724 rs747444989 |
444 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238476 rs747444989 |
444 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6238475 rs780281668 |
444 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA6238477 rs769021532 |
445 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA382466730 rs1187676248 |
445 | M>L | No |
ClinGen TOPMed |
|
|
CA382466738 rs1262971298 |
445 | M>R | No |
ClinGen gnomAD |
|
|
rs3740861 CA6238479 |
446 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3740861 VAR_022045 CA6238478 |
446 | G>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs773906688 CA6238481 |
447 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1175571064 CA382466817 |
450 | I>T | No |
ClinGen gnomAD |
|
|
rs1054721741 CA227065728 |
450 | I>V | No |
ClinGen TOPMed |
|
|
CA6238482 rs759181782 |
452 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA382466839 rs1410170218 |
452 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 455 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6238483 rs767235749 |
455 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382466911 rs1428385205 |
458 | G>A | No |
ClinGen gnomAD |
|
|
rs775124919 CA6238484 |
460 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA382466936 rs1228871239 |
461 | G>S | No |
ClinGen TOPMed |
|
|
rs1338399663 CA382466964 |
462 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1440932474 CA382466975 |
463 | V>A | No |
ClinGen gnomAD |
|
|
rs61997243 CA6238485 |
463 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763897010 CA6238486 |
466 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382467012 rs1422857470 |
466 | L>V | No |
ClinGen Ensembl |
|
|
CA6238489 rs765396634 |
469 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs750599518 CA6238490 |
470 | A>T | No |
ClinGen ExAC |
|
|
CA6238491 rs758663286 |
472 | G>V | No |
ClinGen ExAC TOPMed |
|
|
rs1225763858 CA382467154 |
475 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6238492 rs780376389 |
475 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6238493 rs747290260 |
476 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs781486908 CA6238495 |
479 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1234734738 CA382467259 |
481 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6238496 rs748638467 |
481 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480988908 CA382467286 |
483 | S>N | No |
ClinGen gnomAD |
|
|
CA6238497 rs367574776 |
486 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6238500 rs745428202 |
487 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6238499 rs745428202 |
487 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773816467 CA6238498 |
487 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180230197 CA382467359 |
489 | G>D | No |
ClinGen TOPMed |
|
|
CA382467355 rs1254288035 |
489 | G>R | No |
ClinGen TOPMed |
|
|
rs1178328376 CA382467371 |
490 | Y>C | No |
ClinGen gnomAD |
|
|
rs775238675 CA6238502 |
492 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs775238675 CA6238501 |
492 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA382467396 rs1425598627 |
492 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 492 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480419077 CA382467407 |
493 | T>P | No |
ClinGen TOPMed |
|
|
CA6238503 rs763961335 |
494 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1565450365 CA382467425 |
494 | F>S | No |
ClinGen Ensembl |
|
|
rs78483811 CA227065729 |
495 | D>Y | No |
ClinGen Ensembl |
|
|
CA6238505 rs371660936 |
496 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs765306783 CA6238506 |
497 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA382467508 rs1407224304 |
500 | L>* | No |
ClinGen gnomAD |
|
|
CA382467504 rs1344191538 |
500 | L>I | No |
ClinGen gnomAD |
|
|
CA382467506 rs1344191538 |
500 | L>V | No |
ClinGen gnomAD |
|
|
CA382467519 rs1275881983 |
501 | L>K | No |
ClinGen TOPMed gnomAD |
No associated diseases with O94919
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| endonuclease activity | Catalysis of the hydrolysis of ester linkages within nucleic acids by creating internal breaks. |
| metal ion binding | Binding to a metal ion. |
| nucleic acid binding | Binding to a nucleic acid. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8C522 | Endod1 | Endonuclease domain-containing 1 protein | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGTARWLALG | SLFALAGLLE | GRLVGEEEAG | FGECDKFFYA | GTPPAGLAAD | SHVKICQRAE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GAERFATLYS | TRDRIPVYSA | FRAPRPAPGG | AEQRWLVEPQ | IDDPNSNLEE | AINEAEAITS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VNSLGSKQAL | NTDYLDSDYQ | RGQLYPFSLS | SDVQVATFTL | TNSAPMTQSF | QERWYVNLHS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LMDRALTPQC | GSGEDLYILT | GTVPSDYRVK | DKVAVPEFVW | LAACCAVPGG | GWAMGFVKHT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RDSDIIEDVM | VKDLQKLLPF | NPQLFQNNCG | ETEQDTEKMK | KILEVVNQIQ | DEERMVQSQK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SSSPLSSTRS | KRSTLLPPEA | SEGSSSFLGK | LMGFIATPFI | KLFQLIYYLV | VAILKNIVYF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LWCVTKQVIN | GIESCLYRLG | SATISYFMAI | GEELVSIPWK | VLKVVAKVIR | ALLRILCCLL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KAICRVLSIP | VRVLVDVATF | PVYTMGAIPI | VCKDIALGLG | GTVSLLFDTA | FGTLGGLFQV |
| 490 | |||||
| VFSVCKRIGY | KVTFDNSGEL |