Q9H501
PR
Gene name |
ESF1 (ABTAP, C20orf6, HDCMC28P) |
Protein name |
ESF1 homolog |
Names |
ABT1-associated protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51575 |
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 Q9H501
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H501-F1 | Predicted | AlphaFoldDB |
650 variants for Q9H501
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9767511 rs146507559 |
2 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9767510 rs780562020 |
3 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1600300054 CA408282042 |
4 | K>R | No |
ClinGen Ensembl |
|
|
rs1418515473 CA408282035 |
5 | Q>R | No |
ClinGen TOPMed |
|
|
rs1161597824 CA408282017 |
7 | I>M | No |
ClinGen gnomAD |
|
|
rs1380196199 CA408282022 |
7 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 8 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770022970 CA9767508 |
8 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745875152 CA9767506 |
9 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781579391 CA9767505 |
9 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA408281993 rs1363683726 |
11 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs199554521 CA9767503 |
11 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1221686342 CA408281985 |
12 | R>Q | No |
ClinGen gnomAD |
|
|
CA408281986 rs1420767624 |
12 | R>W | No |
ClinGen gnomAD |
|
|
CA9767500 rs552526994 |
15 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9767501 rs754783046 |
15 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199992781 CA9767499 |
17 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9767497 rs749989880 |
20 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217199069 CA408281935 |
20 | P>S | No |
ClinGen gnomAD |
|
|
rs1331302592 CA408281932 |
21 | R>G | No |
ClinGen TOPMed |
|
|
rs906576272 CA311427198 |
21 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA408281930 rs906576272 |
21 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9767495 rs761489687 |
25 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA408281863 rs774031716 |
30 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774031716 CA9767494 |
30 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144162119 CA9767493 |
30 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140436345 CA9767492 |
32 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775864914 CA9767491 |
34 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448398117 CA408281815 |
37 | R>K | No |
ClinGen gnomAD |
|
|
rs746366462 CA9767488 |
39 | R>* | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA311427174 rs746366462 |
39 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767487 rs781489169 |
39 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9767486 rs771104996 |
41 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs374183254 CA9767485 |
43 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1207788632 CA408281775 |
43 | H>R | No |
ClinGen gnomAD |
|
|
COSM1681544 CA311427161 rs374183254 |
43 | H>Y | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs113417929 CA311427155 |
44 | D>G | No |
ClinGen Ensembl |
|
|
rs754765365 CA9767483 |
45 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478999778 CA408281755 |
46 | K>R | No |
ClinGen TOPMed |
|
|
rs753606755 CA9767482 |
48 | K>M | No |
ClinGen ExAC |
|
|
CA9767481 rs779697075 |
51 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756106805 CA9767480 |
52 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs767059299 COSM1024610 CA9767478 |
53 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs954603735 CA311427140 |
55 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 55 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390775346 CA408281677 |
57 | G>A | No |
ClinGen TOPMed |
|
|
rs1277847783 COSM1024609 CA408281673 |
58 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM181271 rs751200578 CA9767476 |
58 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs763735520 CA9767475 |
60 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311427128 rs948193721 |
63 | S>N | No |
ClinGen Ensembl |
|
|
CA9767473 rs775981294 |
64 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201734940 CA9767471 |
66 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9767469 rs771160335 |
70 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767468 rs561269509 |
70 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773314802 CA408281576 |
72 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA9767465 rs748310039 |
73 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772282241 CA408281573 |
73 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767466 rs772282241 |
73 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779862954 CA9767464 |
76 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9767463 rs755878000 |
77 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767462 rs745826591 |
77 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA408281547 rs745826591 |
77 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs371620693 CA311427093 |
78 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9767461 rs148730581 |
80 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1002329454 CA311427087 |
81 | L>F | No |
ClinGen TOPMed |
|
|
rs756724931 CA9767460 |
82 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1403605452 CA408281519 |
82 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1307817501 CA408281510 |
83 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 84 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200339769 CA9767458 |
85 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9767457 rs758137493 |
86 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA311427072 rs201233628 |
87 | K>N | No |
ClinGen 1000Genomes |
|
|
CA408281478 rs1288107280 |
88 | A>T | No |
ClinGen TOPMed |
|
|
CA408281468 rs1162332740 |
89 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1367356667 CA408281470 |
89 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA408281455 rs752262693 |
91 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752262693 CA9767456 |
91 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256350433 COSM3939260 CA408281445 |
92 | K>N | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 94 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9767455 rs765747806 |
94 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs1481927073 CA408281431 |
94 | I>M | No |
ClinGen gnomAD |
|
|
CA9767451 rs777312167 |
97 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 98 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 99 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408281389 rs1263753304 |
100 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1247004844 CA408281380 |
101 | T>I | No |
ClinGen gnomAD |
|
|
rs760687853 CA9767448 |
102 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs375926398 CA9767444 |
106 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9767443 rs774504355 |
107 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1485064085 CA408281333 |
108 | K>R | No |
ClinGen TOPMed |
|
|
CA408281316 rs1291300026 |
111 | V>I | No |
ClinGen gnomAD |
|
|
rs372746198 CA9767442 |
113 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555827872 CA9767439 |
116 | E>K | No |
ClinGen Ensembl |
|
|
CA311427031 rs11905328 |
117 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 118 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9767437 rs147464259 |
120 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9767436 rs147464259 |
120 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1161106165 CA408281242 |
121 | N>I | No |
ClinGen TOPMed |
|
|
rs143300166 CA9767434 |
122 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9767433 rs143300166 |
122 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408281222 rs1400938623 |
124 | G>D | No |
ClinGen TOPMed |
|
|
rs1211738704 CA408281224 |
124 | G>R | No |
ClinGen gnomAD |
|
|
CA9767432 rs139391330 |
126 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408281185 rs1193939119 |
129 | T>S | No |
ClinGen gnomAD |
|
|
CA408281183 rs1449948073 |
130 | D>H | No |
ClinGen TOPMed |
|
|
rs766840858 CA9767428 |
131 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA408281169 rs1337356503 |
132 | D>H | No |
ClinGen TOPMed |
|
|
rs1381920960 CA408281157 |
133 | N>I | No |
ClinGen TOPMed |
|
|
rs576513655 CA9767427 |
134 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1303998318 CA408281145 |
135 | I>T | No |
ClinGen gnomAD |
|
|
rs1313047351 CA408281148 |
135 | I>V | No |
ClinGen TOPMed |
|
|
CA408281115 rs1388049691 |
139 | K>N | No |
ClinGen gnomAD |
|
|
rs1258093231 CA408281112 |
140 | M>V | No |
ClinGen gnomAD |
|
|
CA408281093 rs1355859146 |
142 | T>I | No |
ClinGen TOPMed |
|
|
CA408281085 rs1394543326 |
143 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 147 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767654922 CA9767425 |
147 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA408281049 rs1390298885 |
148 | I>T | No |
ClinGen gnomAD |
|
|
CA9767424 rs761758288 |
151 | N>S | No |
ClinGen ExAC |
|
|
rs1477547662 CA408281020 |
152 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9767423 rs774559327 |
152 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs768807883 CA9767422 |
153 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA9767420 rs141982701 |
154 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9767421 rs763147883 |
154 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9767419 rs770601325 |
155 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9767417 rs777523930 |
156 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1200269352 CA408280997 |
156 | K>M | No |
ClinGen gnomAD |
|
|
rs771646381 CA9767416 COSM3673069 |
157 | D>N | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
CA9767415 rs747597138 |
157 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9767414 rs377762472 |
158 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9767413 rs754739276 |
159 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753506337 CA9767412 |
160 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs753506337 CA408280974 |
160 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs867749533 CA311426963 |
161 | F>L | No |
ClinGen Ensembl |
|
|
CA408280954 rs1432186742 |
163 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA408280942 rs1366948332 |
164 | K>R | No |
ClinGen gnomAD |
|
|
rs780512980 CA9767411 |
165 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568732349 CA408280934 |
165 | N>I | No |
ClinGen Ensembl |
|
| rs775532281 | 165 | N>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408280933 rs1322966959 |
165 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 165 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769003434 CA311426952 |
166 | K>R | No |
ClinGen Ensembl |
|
|
rs141947077 CA9767409 |
167 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750968639 CA9767408 |
167 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9767406 rs200577352 |
169 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs745713173 | 171 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9767404 rs751696648 |
171 | N>K | No |
ClinGen ExAC |
|
|
CA9767405 rs761892537 |
171 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs745713173 | 171 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186771955 CA408280885 |
172 | I>T | No |
ClinGen gnomAD |
|
|
CA311426929 rs879043693 |
173 | V>G | No |
ClinGen Ensembl |
|
|
CA408280873 rs764153677 |
174 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767401 rs764153677 |
174 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79852288 CA9767400 |
175 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408280859 rs1441101870 |
176 | T>S | No |
ClinGen gnomAD |
|
|
CA9767399 rs775667868 |
177 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA311426917 rs977590077 |
178 | D>A | No |
ClinGen Ensembl |
|
|
CA408280844 rs1225591946 |
179 | S>P | No |
ClinGen gnomAD |
|
|
rs773208667 CA9767396 |
181 | L>F | No |
ClinGen ExAC TOPMed |
|
|
rs773208667 CA408280832 |
181 | L>V | No |
ClinGen ExAC TOPMed |
|
|
CA9767394 COSM3544169 rs186231642 |
182 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA311426909 rs967013147 |
184 | K>R | No |
ClinGen TOPMed |
|
|
rs778637606 CA9767393 |
186 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs768255778 CA9767392 |
187 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408280768 rs1420299753 |
190 | S>L | No |
ClinGen gnomAD |
|
|
CA9767389 rs756504335 |
190 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375672621 CA9767388 |
192 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA311426896 rs375672621 |
192 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA408280759 rs1162953429 |
192 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 193 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568732195 CA408280752 |
193 | S>F | No |
ClinGen Ensembl |
|
|
rs1239369384 CA408280748 |
194 | E>G | No |
ClinGen gnomAD |
|
|
CA408280726 rs1230628603 |
197 | K>T | No |
ClinGen TOPMed |
|
|
CA9767387 rs368059559 COSM1713236 |
199 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs757827255 CA9767386 |
200 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs556457258 CA9767385 |
200 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA9767384 rs764208513 |
202 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758424948 CA9767383 |
203 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752996682 CA9767382 |
205 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1353837782 CA408280671 |
206 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA408280657 rs1410648425 |
208 | R>K | No |
ClinGen TOPMed |
|
|
rs1328294488 CA408280641 |
210 | M>K | No |
ClinGen TOPMed |
|
|
CA408280631 rs1352794057 |
211 | Q>R | No |
ClinGen TOPMed |
|
|
CA408280026 rs745702355 |
217 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
CA311423678 rs745702355 |
217 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs545163002 CA9767364 |
219 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA9767362 rs752665064 |
220 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9767361 rs765349221 |
221 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs945949809 CA311423650 |
221 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs755226158 CA9767360 |
223 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA408279980 rs754063885 |
224 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767359 rs754063885 |
224 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408279974 rs1420000441 |
225 | Y>C | No |
ClinGen gnomAD |
|
|
rs914515922 CA311423624 |
227 | N>D | No |
ClinGen Ensembl |
|
|
CA408279925 rs1189961629 |
232 | E>G | No |
ClinGen TOPMed |
|
|
CA9767358 CA408279920 rs767437879 |
233 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761656816 CA408279888 |
237 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767357 rs761656816 |
237 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227411511 CA408279887 |
237 | D>V | No |
ClinGen Ensembl |
|
|
CA311423620 rs988117388 |
238 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 242 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568729504 CA408279854 |
242 | D>Y | No |
ClinGen Ensembl |
|
|
rs1406729368 CA408279834 |
245 | S>R | No |
ClinGen TOPMed |
|
|
rs137873021 CA9767353 |
246 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408279818 rs1265794984 |
247 | S>N | No |
ClinGen gnomAD |
|
|
CA408279800 rs1217712485 |
249 | I>T | No |
ClinGen gnomAD |
|
|
CA9767352 rs745557036 |
251 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9767351 rs745557036 |
251 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1217397751 CA408279756 |
256 | E>K | No |
ClinGen gnomAD |
|
|
CA408279734 rs1373377800 |
258 | E>D | No |
ClinGen gnomAD |
|
|
rs1304259310 CA408279728 |
259 | I>T | No |
ClinGen gnomAD |
|
|
rs1400716090 CA408279732 |
259 | I>V | No |
ClinGen TOPMed |
|
|
rs1434393527 CA408279724 |
260 | T>A | No |
ClinGen gnomAD |
|
|
CA9767348 rs200158976 |
261 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9767347 rs771318114 |
262 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311423598 rs756888631 |
265 | A>T | No |
ClinGen Ensembl |
|
|
rs758965325 CA311423555 |
267 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758965325 CA9767344 |
267 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748688954 CA9767343 |
269 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9767341 rs755033086 |
270 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755033086 CA311423517 |
270 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311423515 rs149707720 |
272 | S>N | No |
ClinGen ESP |
|
| TCGA novel | 274 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9767340 rs113532876 |
275 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA311423514 rs543453528 |
275 | D>H | No |
ClinGen 1000Genomes |
|
| TCGA novel | 275 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs952382983 CA9767338 |
276 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9767336 rs1555826992 |
277 | E>D | No |
ClinGen Ensembl |
|
|
CA408279604 rs1260363359 |
278 | E>D | No |
ClinGen TOPMed |
|
|
rs780354632 CA408279605 |
278 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs780354632 CA9767335 |
278 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA408279599 rs1236680345 |
279 | D>A | No |
ClinGen gnomAD |
|
|
CA311423478 rs1012805378 |
280 | E>G | No |
ClinGen Ensembl |
|
|
CA408279564 rs1004573697 |
283 | E>D | No |
ClinGen TOPMed |
|
|
rs181498881 CA9767331 |
284 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs895318507 CA311423455 |
284 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1280897382 CA408279554 |
285 | D>V | No |
ClinGen gnomAD |
|
|
rs376098271 CA9767328 |
286 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408279521 rs1378666539 |
289 | D>A | No |
ClinGen TOPMed |
|
|
CA9767326 rs762837666 |
291 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA408279498 rs1301474753 |
292 | D>E | No |
ClinGen gnomAD |
|
|
rs113298930 CA9767325 |
292 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113298930 CA311423438 |
292 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1355091780 CA408279490 |
293 | D>E | No |
ClinGen TOPMed |
|
|
CA408279495 rs1450568979 |
293 | D>Y | No |
ClinGen gnomAD |
|
|
rs764675791 CA408279489 |
294 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs764675791 CA9767324 |
294 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 297 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1387774033 CA408279466 |
297 | D>N | No |
ClinGen gnomAD |
|
|
rs1428755510 CA408279457 |
298 | S>G | No |
ClinGen gnomAD |
|
|
rs759047515 CA9767322 |
299 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs140837145 CA9767321 |
300 | P>H | No |
ClinGen ESP ExAC TOPMed |
|
|
CA311423420 rs1003950126 |
305 | G>C | No |
ClinGen Ensembl |
|
|
CA408279410 rs1247887590 |
305 | G>D | No |
ClinGen gnomAD |
|
|
rs1486508875 CA408279396 |
307 | G>E | No |
ClinGen gnomAD |
|
|
rs370393643 CA9767320 |
308 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408279382 rs1482151667 |
309 | I>M | No |
ClinGen gnomAD |
|
|
CA9767319 rs574340424 |
309 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408279379 rs1236560274 |
310 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1253149230 CA408279354 |
313 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 316 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9767318 rs377187240 |
318 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377187240 CA311423408 |
318 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs151055137 CA9767317 |
319 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs151055137 CA408279311 |
319 | T>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9767315 rs200849736 |
320 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768618863 CA9767314 |
324 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9767313 rs749329250 |
325 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9767311 rs756469351 |
328 | G>C | No |
ClinGen ExAC |
|
|
CA408279229 rs1419085736 CA408279228 |
331 | H>Q | No |
ClinGen TOPMed |
|
|
CA408279225 rs1156790316 |
332 | A>S | No |
ClinGen TOPMed |
|
|
rs1404179739 CA408279210 |
334 | R>K | No |
ClinGen TOPMed |
|
|
CA9767309 rs138569918 |
339 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1367568201 CA408279162 |
340 | A>V | No |
ClinGen gnomAD |
|
|
CA9767306 rs752608133 |
341 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs752608133 CA9767307 |
341 | P>T | No |
ClinGen ExAC gnomAD |
|
|
COSM2703301 CA9767305 rs572143127 |
342 | R>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA9767304 rs758982975 |
342 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9767302 rs765872478 |
344 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9767303 rs558798439 |
344 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1252514026 CA408279136 |
345 | E>V | No |
ClinGen gnomAD |
|
|
CA408279115 rs1267690818 |
346 | I>M | No |
ClinGen gnomAD |
|
|
CA9767285 rs140484254 |
346 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9767284 rs755012701 |
347 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753747553 CA9767283 |
347 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs755576843 CA9767281 |
348 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374391698 CA9767280 |
348 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1300639444 CA408279104 |
349 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1600294678 CA408279091 |
350 | L>F | No |
ClinGen Ensembl |
|
|
CA311422889 rs969752615 |
351 | A>T | No |
ClinGen TOPMed |
|
|
CA408279025 rs1371313884 |
355 | M>I | No |
ClinGen gnomAD |
|
|
CA408279034 rs1442401622 |
355 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA408279004 rs1319433182 |
356 | D>E | No |
ClinGen gnomAD |
|
|
CA408278988 rs1398783678 |
357 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1035298270 CA311422879 |
360 | L>* | No |
ClinGen Ensembl |
|
|
CA408278918 rs1393132799 |
362 | A>G | No |
ClinGen gnomAD |
|
|
CA408278924 rs1465490012 |
362 | A>T | No |
ClinGen gnomAD |
|
|
CA408278885 rs1199710350 |
364 | D>E | No |
ClinGen TOPMed |
|
|
CA311422861 rs370161105 |
368 | L>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs764332914 CA9767276 |
368 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs370161105 CA408278846 |
368 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA408278838 rs1449157501 |
369 | F>I | No |
ClinGen gnomAD |
|
|
rs982249945 CA311422853 |
369 | F>S | No |
ClinGen Ensembl |
|
|
CA9767275 rs763603463 |
370 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 372 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9767274 rs374822184 |
374 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9767273 rs770024971 |
375 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA9767272 rs745877111 |
376 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1347944665 CA408278730 |
377 | G>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 380 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144664974 CA9767267 |
382 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144664974 CA311422806 |
382 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395190825 CA408278653 |
383 | K>R | No |
ClinGen gnomAD |
|
|
rs767436397 CA311421105 |
384 | I>M | No |
ClinGen TOPMed |
|
|
rs550610436 CA9767255 |
384 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA408278497 rs1341065981 |
385 | Y>H | No |
ClinGen gnomAD |
|
|
VAR_053082 rs6079171 CA311421086 |
386 | P>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA311421101 rs963328451 |
386 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9767254 rs760096669 |
392 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353312131 CA408278370 |
393 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9767253 rs548540120 |
393 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1600293120 CA408278315 |
396 | E>Q | No |
ClinGen Ensembl |
|
|
CA9767252 rs371747175 |
397 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408278294 rs1377436425 |
397 | E>Q | No |
ClinGen TOPMed |
|
|
rs759402332 CA311421052 |
399 | V>L | No |
ClinGen gnomAD |
|
|
rs1477206024 TCGA novel CA408278223 |
401 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA311421036 rs774123901 |
402 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 403 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9767247 rs779805961 |
407 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA9767246 rs769766714 |
409 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745790445 CA9767245 |
409 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs769766714 CA311421006 |
409 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767242 rs751228991 |
410 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs756665691 CA9767243 |
410 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368296225 CA9767244 |
410 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408278149 rs1201861652 |
411 | D>N | No |
ClinGen gnomAD |
|
|
rs777527024 CA9767241 |
412 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9767240 rs758855478 |
412 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1568727783 CA408278110 |
416 | D>V | No |
ClinGen Ensembl |
|
|
rs1332498670 CA408278103 |
417 | W>S | No |
ClinGen gnomAD |
|
|
CA408277879 rs1239791102 |
418 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs752391066 CA9767219 |
418 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755236697 CA9767217 |
421 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 422 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs897431141 CA408277798 |
423 | L>* | No |
ClinGen TOPMed |
|
|
CA408277795 rs897431141 |
423 | L>S | No |
ClinGen TOPMed |
|
|
CA311416618 rs897431141 |
423 | L>W | No |
ClinGen TOPMed |
|
|
rs754370545 CA9767216 |
425 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs761226556 CA9767214 |
429 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9767213 rs140974832 |
430 | R>* | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 430 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408277639 rs1390286870 |
431 | L>V | No |
ClinGen TOPMed |
|
|
CA9767211 rs762082588 |
432 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1568727359 CA408277585 |
433 | Y>C | No |
ClinGen Ensembl |
|
|
CA408277495 rs1220724360 |
438 | V>I | No |
ClinGen gnomAD |
|
|
rs1401804381 CA408277458 |
440 | C>S | No |
ClinGen gnomAD |
|
|
CA9767207 rs776653374 |
441 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9767208 rs759212324 |
441 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA408277429 rs1451996213 |
442 | S>F | No |
ClinGen gnomAD |
|
|
rs746933130 CA9767205 |
443 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770822021 CA9767206 |
443 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1405804941 CA408277372 |
447 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs747813221 CA9767201 |
448 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201842273 CA311416549 |
450 | Y>N | No |
ClinGen TOPMed |
|
|
rs1279474524 CA408277306 |
451 | E>D | No |
ClinGen gnomAD |
|
|
rs199572167 CA9767199 |
453 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1304523413 CA408277261 |
454 | D>E | No |
ClinGen gnomAD |
|
|
CA9767196 rs377464806 |
458 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs937707134 CA311416517 |
464 | F>S | No |
ClinGen TOPMed |
|
|
rs1431876976 CA408277095 |
467 | L>I | No |
ClinGen gnomAD |
|
|
rs889387017 CA311415170 |
468 | R>S | No |
ClinGen Ensembl |
|
|
CA9767171 rs752949796 |
470 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA408276957 rs1476156879 |
470 | I>V | No |
ClinGen gnomAD |
|
|
rs1195337804 CA408276937 |
471 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408276941 rs1195337804 |
471 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1600291612 CA408276945 |
471 | P>S | No |
ClinGen Ensembl |
|
|
rs766098343 CA9767170 |
472 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA408276912 rs1334356223 |
473 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs760477050 CA9767169 |
473 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9767167 rs750413719 |
474 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 477 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1048512270 CA311415127 |
478 | D>G | No |
ClinGen TOPMed |
|
|
rs574680707 CA9767166 |
478 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408276810 rs1370526231 |
481 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9767164 rs773803488 |
482 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1465824977 CA408276784 |
483 | V>I | No |
ClinGen gnomAD |
|
|
rs1393206821 CA408276752 |
485 | S>L | No |
ClinGen gnomAD |
|
|
rs1173291138 CA408276738 |
487 | V>G | No |
ClinGen TOPMed |
|
|
CA9767163 rs768201369 |
487 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs997706382 CA311415106 |
489 | L>I | No |
ClinGen Ensembl |
|
|
rs762529221 CA9767162 |
490 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs931351296 CA408276717 |
491 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA408276718 rs931351296 |
491 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA311415087 rs931351296 |
491 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1180980304 CA408276714 |
491 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 497 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA311415079 rs900896307 |
499 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 500 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408276622 rs1300890106 |
505 | S>P | No |
ClinGen TOPMed |
|
| rs373675586 | 506 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775142727 CA9767161 |
506 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767160 rs149605887 COSM1024603 |
506 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1389273814 CA408276600 |
507 | V>L | No |
ClinGen TOPMed |
|
|
CA408276592 rs1251425788 |
508 | E>G | No |
ClinGen gnomAD |
|
|
CA408276566 rs1331441011 |
512 | D>N | No |
ClinGen TOPMed |
|
|
CA9767146 rs763519513 |
515 | D>H | No |
ClinGen ExAC TOPMed |
|
|
rs1001004864 CA311412758 |
517 | E>K | No |
ClinGen Ensembl |
|
|
rs1313112915 CA408276515 |
519 | I>V | No |
ClinGen gnomAD |
|
|
CA9767145 rs762486977 |
520 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289991178 CA408276506 |
520 | T>K | No |
ClinGen TOPMed |
|
|
rs775028889 CA9767144 |
521 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA408276503 rs1203700951 |
521 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1261790481 CA408276489 |
523 | N>D | No |
ClinGen gnomAD |
|
|
rs769486130 CA9767143 |
524 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA408276472 rs1346498387 |
525 | K>T | No |
ClinGen gnomAD |
|
|
rs777045761 CA9767141 COSM1024602 |
526 | F>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1269982326 CA408276458 |
527 | K>* | No |
ClinGen TOPMed |
|
|
CA408276456 rs1222965089 |
527 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 528 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs906867744 CA311412739 |
529 | E>* | No |
ClinGen Ensembl |
|
|
rs771269453 CA9767140 |
531 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1317402747 CA408276419 |
532 | L>F | No |
ClinGen gnomAD |
|
|
CA9767139 rs747526689 |
533 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA408276413 rs1199418039 |
533 | D>V | No |
ClinGen TOPMed |
|
|
rs778273457 CA9767138 |
536 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA9767137 rs772073092 |
537 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1038789047 CA311412707 |
537 | Q>L | No |
ClinGen TOPMed |
|
|
CA311412691 rs771700105 |
539 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771700105 CA9767136 |
539 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311412697 rs771700105 |
539 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767135 rs778833060 |
541 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767134 rs755322749 |
542 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs199605089 CA9767132 |
546 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408276297 rs3180370 |
550 | I>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs137963054 CA9767128 |
550 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_024331 CA9767129 rs3180370 |
550 | I>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs145096860 CA9767130 |
550 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9767127 rs752291941 |
553 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764721304 CA9767126 |
554 | L>V | No |
ClinGen ExAC |
|
|
CA408276266 rs1345314694 |
555 | Q>E | No |
ClinGen gnomAD |
|
|
rs145243071 CA9767097 |
556 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9767095 rs760217982 |
557 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767096 rs765964576 |
557 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773662570 CA9767094 |
558 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA311407604 rs933855349 |
559 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA311407603 rs771754162 |
560 | V>I | No |
ClinGen Ensembl |
|
|
CA9767093 rs767763694 |
561 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1439233716 CA408274527 |
565 | D>G | No |
ClinGen gnomAD |
|
|
CA311407568 rs918395453 |
570 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA408274366 rs1288802165 |
570 | K>R | No |
ClinGen TOPMed |
|
|
CA9767089 rs774934930 |
571 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 571 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408274261 rs1453582474 |
573 | K>E | No |
ClinGen gnomAD |
|
|
rs1358244046 CA408274234 |
574 | D>H | No |
ClinGen TOPMed |
|
|
rs1192609075 CA408274170 |
575 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9767087 rs768891070 |
576 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408274146 rs1248252291 |
577 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1248252291 CA408274144 |
577 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1221963695 CA408274124 |
578 | Q>E | No |
ClinGen gnomAD |
|
|
CA9767086 rs749333125 |
579 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA408274088 rs1282025533 |
580 | A>S | No |
ClinGen gnomAD |
|
|
rs1242464926 CA408274070 |
581 | K>E | No |
ClinGen gnomAD |
|
|
rs772959375 CA9767082 |
582 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA9767084 rs746073924 |
583 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs746073924 CA9767083 |
583 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA9767081 rs777679939 |
584 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs745721178 CA311407477 |
585 | L>F | No |
ClinGen Ensembl |
|
|
CA408273974 rs1484225860 |
586 | L>W | No |
ClinGen TOPMed |
|
|
CA311407464 rs778781338 |
587 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs748118931 CA9767079 |
587 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs754502902 CA9767077 |
588 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs753392512 CA9767076 |
591 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1172407198 CA408273863 |
594 | K>E | No |
ClinGen gnomAD |
|
|
CA311407444 rs74748332 |
596 | G>D | No |
ClinGen 1000Genomes |
|
|
rs1394977289 CA408273835 |
597 | K>E | No |
ClinGen gnomAD |
|
|
rs779504753 CA9767073 |
598 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA408273814 rs1191596305 |
599 | N>H | No |
ClinGen gnomAD |
|
|
rs1474946281 CA408273805 |
599 | N>S | No |
ClinGen gnomAD |
|
|
rs755858604 CA9767072 |
600 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs199635076 CA9767071 |
601 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1038171455 CA311407441 |
603 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9767070 rs767933357 |
603 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA9767069 rs77947586 |
604 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408273676 rs1214402580 |
608 | V>A | No |
ClinGen gnomAD |
|
|
CA408273681 rs1302210429 |
608 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 610 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 611 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408269957 rs1393848827 |
615 | A>T | No |
ClinGen gnomAD |
|
|
CA408269886 rs1380699263 |
618 | M>I | No |
ClinGen gnomAD |
|
|
CA311380984 rs948594876 |
627 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs753196194 CA9767048 |
627 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA311380982 rs933009780 |
631 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs765361565 CA9767047 |
633 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9767046 rs759494258 |
635 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA9767045 COSM295377 rs776934429 |
638 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA408269440 rs1312259546 |
638 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA311380955 rs922891770 |
639 | K>Q | No |
ClinGen TOPMed |
|
|
rs771104095 CA9767044 |
639 | K>R | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 641 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408269393 rs1425709415 |
641 | E>K | No |
ClinGen gnomAD |
|
|
rs554776582 CA9767043 |
643 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408269329 rs1479683096 |
644 | R>G | No |
ClinGen gnomAD |
|
|
rs1568712735 CA408269321 |
644 | R>I | No |
ClinGen Ensembl |
|
| rs1568712741 | 644 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs41275402 CA408269308 |
645 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9767042 rs41275402 |
645 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768423071 CA9767041 |
646 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9767040 rs572571433 |
647 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1247439268 CA408269251 |
648 | K>N | No |
ClinGen gnomAD |
|
|
rs777524988 CA9767014 |
651 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777524988 CA9767015 |
651 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758855542 CA9767013 |
654 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA408268708 rs1434274897 |
656 | A>V | No |
ClinGen gnomAD |
|
|
CA9767011 rs779302404 |
660 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA408268643 rs1453966635 |
664 | D>V | No |
ClinGen TOPMed |
|
|
rs755499849 CA9767009 |
665 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755499849 CA408268620 |
665 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs889810230 CA311377512 |
665 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA9767007 rs766457638 |
666 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1294857360 CA408268558 |
668 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1397900241 CA408268491 |
670 | P>A | No |
ClinGen gnomAD |
|
|
rs767780620 CA9767004 |
672 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs775216646 CA9767002 |
675 | E>D | No |
ClinGen ExAC |
|
|
rs761996367 CA9767003 |
675 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408275993 rs1164668046 |
682 | N>K | No |
ClinGen gnomAD |
|
|
CA408275980 rs1600263095 |
684 | K>T | No |
ClinGen Ensembl |
|
|
rs552139164 CA9766978 |
685 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs766468724 CA9766981 |
685 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1483439 CA9766979 rs552139164 |
685 | S>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA311419519 rs999685378 |
687 | K>I | No |
ClinGen TOPMed |
|
|
rs1245011971 CA408275953 |
689 | A>T | No |
ClinGen TOPMed |
|
|
rs761382522 CA9766976 |
689 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9766975 rs773983790 |
691 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9766972 rs369104902 |
693 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408275921 rs1367180024 |
694 | S>P | No |
ClinGen TOPMed |
|
|
CA408275914 rs1600263020 |
695 | P>S | No |
ClinGen Ensembl |
|
|
CA408275878 rs866646140 |
700 | E>* | No |
ClinGen Ensembl |
|
|
rs866646140 CA311419501 |
700 | E>K | No |
ClinGen Ensembl |
|
|
CA9766969 rs746361660 |
703 | R>I | No |
ClinGen ExAC |
|
|
rs1434988106 CA408275815 |
707 | E>A | No |
ClinGen gnomAD |
|
|
CA408275814 rs1434988106 |
707 | E>G | No |
ClinGen gnomAD |
|
|
rs773715334 CA9766952 |
709 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9766951 rs768399293 |
710 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1464921689 CA408275795 |
710 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 711 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762594766 CA9766950 |
712 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA408275775 rs1568706717 |
713 | M>V | No |
ClinGen Ensembl |
|
|
rs1388180678 CA408275750 |
716 | D>Y | No |
ClinGen TOPMed |
|
|
rs1156518434 COSM722635 CA408275743 |
717 | E>K | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1458711035 CA408275698 |
722 | H>R | No |
ClinGen gnomAD |
|
|
rs192588786 CA9766947 |
724 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9766944 rs745572345 |
727 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs777683231 CA9766943 |
727 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1435833140 CA408275652 |
728 | I>M | No |
ClinGen TOPMed |
|
|
rs758713124 CA9766942 |
728 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9766941 rs201721575 |
729 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247405126 CA408275643 |
730 | E>G | No |
ClinGen gnomAD |
|
|
CA9766940 rs780004863 |
730 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9766939 rs755903747 |
732 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1430443424 CA408275600 |
736 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408275591 COSM1316500 rs1338965014 |
737 | K>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA408275568 rs1360547723 |
740 | K>M | No |
ClinGen gnomAD |
|
|
COSM1326888 rs912187515 CA311418758 |
743 | M>L | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA9766933 rs187708779 |
745 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408275456 rs1462581721 |
748 | L>F | No |
ClinGen TOPMed |
|
|
rs1245716463 CA408275460 |
748 | L>S | No |
ClinGen TOPMed |
|
|
rs762607301 CA9766932 |
749 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9766931 rs563127176 |
751 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9766930 rs765622659 |
752 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1309150487 CA408275412 COSM1666352 |
752 | D>G | eye [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1236909217 CA408275377 |
754 | E>G | No |
ClinGen gnomAD |
|
|
CA408275184 rs1485766210 |
755 | V>I | No |
ClinGen TOPMed |
|
|
CA9766911 rs201903066 |
756 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs544683251 CA9766908 |
764 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757280784 CA9766906 |
765 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147904104 CA9766907 |
765 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1415535146 CA408274961 |
767 | T>A | No |
ClinGen TOPMed |
|
|
rs751395034 CA408274895 |
770 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751395034 CA9766905 |
770 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA311417596 rs199988233 |
771 | F>L | No |
ClinGen 1000Genomes |
|
|
CA408274866 rs1336837410 |
771 | F>L | No |
ClinGen gnomAD |
|
|
rs35614984 CA9766904 |
772 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408274819 rs1344346689 |
776 | S>L | No |
ClinGen TOPMed |
|
|
rs1398018440 CA408274809 |
777 | D>E | No |
ClinGen gnomAD |
|
|
rs1333349510 CA408274771 |
779 | N>S | No |
ClinGen gnomAD |
|
|
CA408274757 rs1428388064 |
780 | F>I | No |
ClinGen TOPMed |
|
|
rs1367719786 CA408274682 |
783 | T>R | No |
ClinGen gnomAD |
|
|
CA408274676 rs1162892064 |
784 | K>E | No |
ClinGen gnomAD |
|
|
CA9766901 rs764916135 |
786 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1296516399 CA408274628 |
786 | M>V | No |
ClinGen TOPMed |
|
|
rs1178101594 CA408274593 |
787 | E>K | No |
ClinGen gnomAD |
|
|
CA9766900 rs759155599 |
789 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1240549728 CA408274503 |
790 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773024021 CA408274495 |
791 | E>K | No |
ClinGen gnomAD |
|
|
rs773024021 CA311417577 |
791 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs555521056 CA9766898 |
794 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1238771751 CA408274409 |
794 | A>V | No |
ClinGen gnomAD |
|
|
rs140729217 CA9766896 |
795 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9766897 rs761253254 |
795 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408274359 rs1600260562 |
797 | R>G | No |
ClinGen Ensembl |
|
|
rs772306853 CA9766895 |
797 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs371665082 CA9766893 |
799 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs566841790 CA9766894 |
799 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9766891 rs749461847 |
800 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9766890 rs781058889 |
801 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs770566392 CA9766889 |
802 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382285230 CA408274212 |
803 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1600260526 CA408274162 |
805 | T>S | No |
ClinGen Ensembl |
|
|
CA311417551 rs997874881 |
806 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA408274120 rs777524061 |
807 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1325771293 CA408274129 |
807 | A>T | No |
ClinGen gnomAD |
|
|
CA9766887 rs777524061 |
807 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA408274101 rs1359597448 |
808 | I>K | No |
ClinGen gnomAD |
|
|
rs758311832 CA9766886 |
810 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA311417533 rs200995737 |
812 | E>D | No |
ClinGen Ensembl |
|
|
CA408273989 rs1568704982 |
813 | S>R | No |
ClinGen Ensembl |
|
|
CA408273967 rs1489043985 |
814 | E>D | No |
ClinGen gnomAD |
|
|
rs1292019169 CA408273955 |
815 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 817 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778389022 CA408273899 |
818 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778389022 CA9766882 |
818 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754682999 CA9766881 |
822 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408273205 rs1417617718 |
823 | S>A | No |
ClinGen TOPMed |
|
|
VAR_053083 rs34414644 CA9766880 |
824 | I>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1388276602 CA408273179 |
825 | D>G | No |
ClinGen gnomAD |
|
|
CA9766879 rs766767622 |
825 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 827 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201934981 CA9766877 |
829 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs201934981 CA9766878 |
829 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs367845392 CA9766876 |
830 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1362475826 CA408273119 |
830 | M>L | No |
ClinGen gnomAD |
|
|
rs1376417625 CA408273093 |
832 | I>T | No |
ClinGen gnomAD |
|
|
CA9766875 rs762408848 |
832 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1415573903 CA408273089 |
833 | K>E | No |
ClinGen TOPMed |
|
|
rs374719866 CA9766874 |
835 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9766873 rs768803000 |
837 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA9766872 rs370599769 |
838 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 838 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1051251896 CA311417470 |
839 | T>A | No |
ClinGen Ensembl |
|
|
rs534749610 RCV000971970 |
840 | E>missing | No |
ClinVar dbSNP |
|
|
rs1054972446 CA311417464 |
841 | Q>E | No |
ClinGen TOPMed |
|
|
rs1192414573 CA408272968 |
842 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 843 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408272933 rs1487109691 |
845 | R>K | No |
ClinGen gnomAD |
|
|
CA408272923 rs1373326378 |
846 | K>R | No |
ClinGen TOPMed |
|
|
rs1045409529 CA311417462 |
847 | K>* | No |
ClinGen TOPMed |
|
|
rs1045409529 CA408272913 |
847 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 848 | Q>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1254143252 CA408272906 |
848 | Q>K | No |
ClinGen gnomAD |
|
|
CA9766870 rs775535941 |
851 | K>E | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9H501
1 regional properties for Q9H501
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | NUC153 | 759 - 787 | IPR012580 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSKQEIMSD | QRFRRVAKDP | RFWEMPEKDR | KVKIDKRFRA | MFHDKKFKLN | YAVDKRGRPI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SHSTTEDLKR | FYDLSDSDSN | LSGEDSKALS | QKKIKKKKTQ | TKKEIDSKNL | VEKKKETKKA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NHKGSENKTD | LDNSIGIKKM | KTSCKFKIDS | NISPKKDSKE | FTQKNKKEKK | NIVQHTTDSS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LEEKQRTLDS | GTSEIVKSPR | IECSKTRREM | QSVVQLIMTR | DSDGYENSTD | GEMCDKDALE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EDSESVSEIG | SDEESENEIT | SVGRASGDDD | GSEDDEEEDE | DEEEDEDEDS | EDDDKSDSGP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DLARGKGNIE | TSSEDEDDTA | DLFPEESGFE | HAWRELDKDA | PRADEITRRL | AVCNMDWDRL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KAKDLLALFN | SFKPKGGVIF | SVKIYPSEFG | KERMKEEQVQ | GPVELLSIPE | DAPEKDWTSR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EKLRDYQFKR | LKYYYAVVDC | DSPETASKIY | EDCDGLEFES | SCSFIDLRFI | PDDITFDDEP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KDVASEVNLT | AYKPKYFTSA | AMGTSTVEIT | WDETDHERIT | MLNRKFKKEE | LLDMDFQAYL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ASSSEDEEEI | EEELQGDDGV | NVEEDGKTKK | SQKDDEEQIA | KYRQLLQVIQ | EKEKKGKEND |
| 610 | 620 | 630 | 640 | 650 | 660 |
| MEMEIKWVPG | LKESAEEMVK | NKLEGKDKLT | PWEQFLEKKK | EKKRLKRKQK | ALAEEASEEE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LPSDVDLNDP | YFAEEVKQIG | INKKSVKSAK | DGTSPEEEIE | IERQKAEMAL | LMMDEDEDSK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KHFNYNKIVE | HQNLSKKKKK | QLMKKKELIE | DDFEVNVNDA | RFQAMYTSHL | FNLDPSDPNF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KKTKAMEKIL | EEKARQRERK | EQELTQAIKK | KESEIEKESQ | RKSIDPALSM | LIKSIKTKTE |
| 850 | |||||
| QFQARKKQKV | K |