Q86WZ0
PR
Gene name |
HEATR4 |
Protein name |
HEAT repeat-containing protein 4 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:399671 |
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 Q86WZ0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86WZ0-F1 | Predicted | AlphaFoldDB |
900 variants for Q86WZ0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1216540965 CA390331484 |
3 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755844685 CA7260294 |
3 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337920209 CA390331477 |
4 | T>I | No |
ClinGen gnomAD |
|
|
CA390331469 rs1269914480 |
5 | Q>* | No |
ClinGen gnomAD |
|
|
CA390331474 rs1269914480 |
5 | Q>K | No |
ClinGen gnomAD |
|
|
CA390331461 rs1234607499 |
5 | Q>R | No |
ClinGen gnomAD |
|
|
rs537815197 CA390331421 |
7 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7260292 rs537815197 |
7 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7260291 rs756947032 |
9 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1370605407 CA390331376 |
9 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA390331381 rs1370605407 |
9 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7260288 rs763623683 |
12 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs576773567 CA7260289 |
12 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1427060211 CA390331307 |
13 | H>D | No |
ClinGen gnomAD |
|
|
rs28552441 CA7260284 |
14 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390331260 rs1206901414 |
15 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 20 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390331140 rs1201339382 |
20 | P>S | No |
ClinGen gnomAD |
|
|
CA390331117 rs1261859851 |
21 | P>Q | No |
ClinGen gnomAD |
|
|
CA390331129 rs1326073657 |
21 | P>T | No |
ClinGen gnomAD |
|
|
rs547969320 CA7260281 |
22 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536060995 CA7260280 |
22 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7260279 rs774536373 |
23 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs569097038 CA7260277 |
24 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569097038 CA7260276 |
24 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569097038 CA7260278 |
24 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390331063 rs1595135670 |
25 | W>R | No |
ClinGen Ensembl |
|
|
rs769771927 CA7260275 |
26 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745591818 CA7260274 |
27 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA262624866 rs1036334932 |
29 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA390330952 rs1403624798 |
30 | N>Y | No |
ClinGen gnomAD |
|
|
rs1457647328 CA390330905 |
31 | Y>* | No |
ClinGen gnomAD |
|
|
CA390330910 rs1175686671 |
31 | Y>C | No |
ClinGen gnomAD |
|
|
CA390330891 rs1408810273 |
32 | S>* | No |
ClinGen gnomAD |
|
|
rs1468817000 CA390330842 |
34 | L>F | No |
ClinGen gnomAD |
|
|
CA390330785 rs1184407956 |
37 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs746631556 CA7260270 |
40 | C>G | No |
ClinGen ExAC TOPMed |
|
|
rs746631556 CA7260271 |
40 | C>R | No |
ClinGen ExAC TOPMed |
|
|
CA262624851 rs1015185517 |
40 | C>Y | No |
ClinGen gnomAD |
|
|
rs1422937027 CA390330715 |
41 | A>P | No |
ClinGen TOPMed |
|
|
rs565877307 CA262624839 |
46 | V>M | No |
ClinGen gnomAD |
|
|
CA7260265 rs752271749 |
48 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs117070234 CA7260266 |
48 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1221529534 CA390330597 |
49 | V>F | No |
ClinGen gnomAD |
|
|
CA390330595 rs1221529534 |
49 | V>I | No |
ClinGen gnomAD |
|
|
rs757712346 CA262624834 |
50 | F>L | No |
ClinGen Ensembl |
|
|
CA390330578 rs757712346 |
50 | F>V | No |
ClinGen Ensembl |
|
|
rs1005510164 CA262624831 |
51 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA390330533 rs1284489946 |
53 | S>* | No |
ClinGen gnomAD |
|
|
CA7260264 rs202055080 |
54 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390330519 rs1380322458 |
54 | Q>L | No |
ClinGen gnomAD |
|
|
CA390330522 rs1380322458 |
54 | Q>R | No |
ClinGen gnomAD |
|
|
CA390330500 rs1335759772 |
55 | Y>* | No |
ClinGen gnomAD |
|
|
COSM1133997 CA7260263 rs756662185 |
56 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7260262 rs750707478 |
56 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262624801 rs751652923 |
58 | H>Q | No |
ClinGen Ensembl |
|
|
CA262624811 rs111549704 |
58 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7260259 rs751814732 |
59 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751814732 CA262624796 |
59 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7260258 rs764475068 |
59 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390330455 rs764475068 |
59 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs917689041 CA262624791 |
63 | Y>* | No |
ClinGen TOPMed |
|
|
CA7260255 rs769567563 |
63 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390330377 rs1312707992 |
64 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA262624790 rs200488186 |
66 | M>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1224825136 CA390330281 |
72 | T>A | No |
ClinGen gnomAD |
|
|
rs866965710 CA262624788 |
72 | T>I | No |
ClinGen Ensembl |
|
|
CA390330283 rs1224825136 |
72 | T>P | No |
ClinGen gnomAD |
|
|
rs1244370547 CA390330271 |
73 | F>L | No |
ClinGen gnomAD |
|
|
rs1244370547 CA390330268 |
73 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 75 | Q>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390330201 rs1595135329 |
77 | V>G | No |
ClinGen Ensembl |
|
|
CA390330176 rs1356767683 |
79 | W>* | No |
ClinGen gnomAD |
|
|
rs899575733 CA262624780 |
80 | Q>* | No |
ClinGen Ensembl |
|
|
rs561395469 CA262624777 |
81 | R>* | No |
ClinGen 1000Genomes gnomAD |
|
|
rs770738708 CA7260251 |
81 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390330147 rs1363790760 |
82 | G>R | No |
ClinGen gnomAD |
|
|
CA7260249 rs777399827 |
84 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA390330097 rs1426810287 |
86 | I>T | No |
ClinGen gnomAD |
|
|
rs771718758 CA7260248 |
86 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390330057 rs1163134857 |
89 | S>I | No |
ClinGen gnomAD |
|
|
CA7260246 CA390330050 rs778510534 |
89 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1422095865 CA390330045 |
90 | Q>* | No |
ClinGen gnomAD |
|
|
rs756543485 CA7260245 |
92 | S>T | No |
ClinGen ExAC |
|
|
rs750913778 CA7260244 |
96 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390329951 rs750913778 |
96 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457918949 CA390329915 |
98 | N>S | No |
ClinGen TOPMed |
|
|
CA390329891 rs1269008096 |
99 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 104 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781603341 CA7260243 |
105 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7260242 rs757686996 |
106 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304700085 CA390329759 |
106 | P>S | No |
ClinGen TOPMed |
|
|
rs371706286 CA262624751 |
107 | Q>K | No |
ClinGen ESP TOPMed |
|
|
CA7260240 rs375629269 |
111 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7260236 rs759582313 |
112 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115176998 CA7260237 |
112 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs889267071 CA262624733 |
113 | P>T | No |
ClinGen TOPMed |
|
|
rs368462898 CA7260235 |
120 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA262624721 rs868658353 |
124 | S>F | No |
ClinGen gnomAD |
|
|
rs760397985 CA7260233 |
126 | S>N | No |
ClinGen ExAC |
|
|
rs1202200308 CA390329275 |
127 | P>L | No |
ClinGen gnomAD |
|
|
CA262624719 rs998020293 |
127 | P>S | No |
ClinGen TOPMed |
|
|
CA7260232 rs773008424 |
128 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA7260231 rs771665931 |
129 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7260229 rs140447974 |
131 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374166668 CA7260230 |
131 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375041896 CA7260228 |
132 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390329174 rs1595134977 |
132 | T>P | No |
ClinGen Ensembl |
|
|
rs1351702662 CA390329080 |
135 | A>G | No |
ClinGen TOPMed |
|
|
COSM1317841 CA7260223 rs376151634 |
135 | A>T | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1300611781 CA390329050 |
137 | K>E | No |
ClinGen gnomAD |
|
|
CA7260222 rs114510558 |
138 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1289755895 CA390328981 |
140 | S>G | No |
ClinGen TOPMed |
|
|
CA262624694 rs529300795 |
141 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs374098484 CA262624692 |
142 | A>T | No |
ClinGen ESP TOPMed |
|
|
CA7260220 rs758873980 |
143 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA390328881 rs1407283897 |
144 | P>T | No |
ClinGen gnomAD |
|
|
COSM2153822 CA7260218 rs765437480 |
145 | E>K | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755082122 CA7260217 |
146 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7260216 rs753869255 |
147 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369768241 CA262624685 |
148 | L>V | No |
ClinGen ESP TOPMed |
|
|
CA390328784 rs1420533716 |
149 | K>Q | No |
ClinGen gnomAD |
|
|
CA390328724 rs766247291 |
154 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7260215 rs766247291 |
154 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7260213 rs772953655 |
157 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144060453 CA390328690 |
158 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7260211 rs144060453 |
158 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7260212 rs145939433 |
158 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs79761456 CA7260210 |
162 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142623987 CA7260209 |
162 | R>H | No |
ClinGen ESP ExAC TOPMed |
|
|
rs142623987 CA390328637 |
162 | R>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA7260207 rs148447544 |
163 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390328632 rs1239914095 |
163 | P>S | No |
ClinGen gnomAD |
|
|
rs775159885 CA7260206 |
164 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284388364 CA390328602 |
165 | I>T | No |
ClinGen TOPMed |
|
|
rs374028133 CA7260204 |
167 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1226385081 CA390328537 |
167 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1039436694 CA262624650 |
168 | P>S | No |
ClinGen Ensembl |
|
|
rs1030925617 CA262624648 |
169 | C>R | No |
ClinGen TOPMed |
|
|
CA7260203 rs778472430 |
170 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1383993696 CA390328468 |
170 | M>T | No |
ClinGen gnomAD |
|
|
rs1402067988 CA390328362 |
172 | P>L | No |
ClinGen gnomAD |
|
|
CA7260202 rs758822571 |
172 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262624644 rs758822571 |
172 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159619260 CA390328353 |
173 | D>H | No |
ClinGen gnomAD |
|
|
rs779125648 CA7260200 |
174 | M>I | No |
ClinGen ExAC |
|
|
rs748528714 CA7260201 |
174 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7260198 rs753909357 |
175 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs750341766 CA7260195 |
177 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM175188 CA7260196 rs750341766 |
177 | R>Q | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7260197 rs145625808 |
177 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1566840941 CA390328138 |
179 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7260194 rs767506609 |
179 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA390328037 rs1181485653 |
182 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA390328021 rs1362426777 |
182 | D>E | No |
ClinGen gnomAD |
|
|
rs201601813 CA262624612 |
182 | D>H | No |
ClinGen 1000Genomes |
|
|
CA7260192 rs761598455 |
191 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390327632 rs1391186485 |
196 | E>K | No |
ClinGen TOPMed |
|
|
rs369260628 CA262624607 |
198 | E>K | No |
ClinGen ESP TOPMed |
|
|
rs538546464 CA262624604 |
199 | A>D | No |
ClinGen 1000Genomes |
|
|
rs774027986 COSM1587605 CA7260191 |
201 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7260189 rs376217290 |
202 | W>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1317646775 CA390327404 |
203 | E>D | No |
ClinGen gnomAD |
|
|
CA7260188 rs775320013 |
203 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769406110 CA7260187 |
204 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 204 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390327374 rs1340222879 |
205 | T>I | No |
ClinGen gnomAD |
|
|
CA7260186 rs745428010 |
206 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 207 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390286331 CA390327290 |
210 | L>P | No |
ClinGen TOPMed |
|
|
CA7260185 rs571551366 |
210 | L>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs193290409 CA7260184 COSM1300811 |
211 | N>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs866192463 CA262624557 |
212 | E>K | No |
ClinGen Ensembl |
|
|
rs369281289 CA7260182 |
213 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755190660 CA7260181 |
213 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs149734041 CA7260179 |
216 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7260178 rs139615409 |
216 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781045338 CA7260176 |
217 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA7260177 rs750502722 |
217 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA262624540 rs992255427 |
218 | I>F | No |
ClinGen Ensembl |
|
|
rs751326788 CA7260174 |
220 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA7260173 rs763765432 |
220 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7260172 rs762853615 |
221 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7260170 rs765049222 |
222 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759050772 CA7260169 |
222 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs765049222 CA7260171 |
222 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262624526 rs762609452 |
223 | P>S | No |
ClinGen Ensembl |
|
|
CA7260168 rs776295325 |
224 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7260167 rs528517201 |
224 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7260166 rs528517201 |
224 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA390326834 rs1278091857 |
228 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA390326816 rs1366882631 |
229 | S>F | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA390326828 rs1405083706 |
229 | S>P | No |
ClinGen gnomAD |
|
|
CA390326763 rs1280834197 |
232 | K>* | No |
ClinGen TOPMed |
|
|
rs1404324458 CA390326745 |
233 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA390326751 rs1187139424 |
233 | W>R | No |
ClinGen TOPMed |
|
|
rs1404324458 CA390326743 |
233 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs983852010 CA262624504 |
236 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs78901745 CA7260163 |
238 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7260162 rs780179541 |
238 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390326623 rs780179541 |
238 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7260160 rs745896107 |
240 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs75069466 CA390326558 |
241 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7260158 rs757396881 |
242 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390326500 rs1271132639 |
243 | W>R | No |
ClinGen gnomAD |
|
|
CA262624491 rs1019048817 |
244 | S>I | No |
ClinGen TOPMed |
|
|
rs1335708526 CA390326399 |
246 | I>T | No |
ClinGen TOPMed |
|
|
rs1197537513 CA390326411 |
246 | I>V | No |
ClinGen gnomAD |
|
|
rs777824583 CA7260156 |
247 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747285697 CA7260157 |
247 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7260154 rs139597948 |
250 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390326290 rs1258047467 |
252 | S>T | No |
ClinGen gnomAD |
|
|
CA7260152 rs759286643 |
253 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1346856903 CA390326254 |
254 | S>I | No |
ClinGen gnomAD |
|
|
rs1346856903 CA390326260 |
254 | S>N | No |
ClinGen gnomAD |
|
|
rs1346856903 CA390326257 |
254 | S>T | No |
ClinGen gnomAD |
|
|
CA7260151 rs753361060 |
255 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1234992031 CA390326226 |
256 | L>V | No |
ClinGen gnomAD |
|
|
rs760284292 CA7260149 |
261 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1052141063 CA262624453 |
261 | Q>R | No |
ClinGen Ensembl |
|
|
CA262624447 rs953614964 |
263 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA390326137 rs953614964 |
263 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1268977258 CA390326081 |
266 | E>G | No |
ClinGen TOPMed |
|
|
rs1400437299 CA390326089 |
266 | E>K | No |
ClinGen gnomAD |
|
|
CA262624443 rs923546120 |
267 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs374345432 CA7260147 |
268 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs976691208 CA262624438 |
269 | E>K | No |
ClinGen TOPMed |
|
|
rs760662176 CA262624432 |
277 | L>V | No |
ClinGen Ensembl |
|
|
CA390325906 rs1233717986 |
278 | P>T | No |
ClinGen gnomAD |
|
|
CA7260146 rs763241053 |
279 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262624428 rs778210125 |
280 | Q>K | No |
ClinGen TOPMed |
|
|
rs775851761 CA7260145 |
281 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7260144 rs372011420 |
282 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390325851 rs1204879134 |
283 | K>M | No |
ClinGen gnomAD |
|
| TCGA novel | 283 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs531088714 CA7260143 |
284 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770901601 CA7260139 |
287 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs747179231 CA7260138 |
290 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758423378 CA7260136 |
291 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7260135 rs147370028 |
292 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1376155624 CA390325749 |
292 | Y>N | No |
ClinGen gnomAD |
|
|
CA7260134 rs147370028 |
292 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7260133 rs754862142 |
293 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA7260113 rs141958391 |
295 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390324351 rs1243365258 COSM1370975 |
296 | P>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs749857348 CA7260111 |
297 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148127953 CA7260109 |
299 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765798568 CA7260108 |
301 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7260107 rs765798568 |
301 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 303 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1319712556 CA390324159 |
304 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs759751452 CA7260106 |
305 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777067401 CA7260105 |
307 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA7260103 rs779530212 |
308 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs779530212 CA7260104 |
308 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA390324066 rs1268314695 |
309 | P>L | No |
ClinGen gnomAD |
|
|
rs755565229 CA262623880 |
312 | K>Q | No |
ClinGen TOPMed |
|
|
CA7260100 rs748298379 |
313 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774430090 CA7260099 |
315 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411042045 CA390323888 |
317 | I>V | No |
ClinGen gnomAD |
|
|
rs1394414954 CA390323852 |
318 | H>P | No |
ClinGen gnomAD |
|
|
CA390323843 rs748982651 |
318 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1566839601 CA390323834 |
319 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 320 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390323782 rs1192115033 |
320 | K>R | No |
ClinGen gnomAD |
|
|
CA7260096 rs779927346 |
321 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7260095 rs745508854 |
321 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745508854 CA7260094 |
321 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868711648 CA262623868 |
323 | L>P | No |
ClinGen Ensembl |
|
|
rs1487273069 CA390323659 |
323 | L>V | No |
ClinGen gnomAD |
|
|
rs1264673625 CA390323624 |
324 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 325 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7260091 rs751072948 |
325 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs779334002 CA7260090 |
326 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 329 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317378975 CA390323465 |
330 | S>C | No |
ClinGen gnomAD |
|
|
rs1015402288 CA390323401 |
332 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1015402288 CA262623860 |
332 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7260088 rs754113252 |
332 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA262623853 rs749894837 |
333 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs551858976 CA7260086 |
333 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390323365 rs551858976 |
333 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7260087 COSM1147381 rs749894837 |
333 | R>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1443459440 CA390323325 |
334 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1356638881 CA390323282 |
334 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 335 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750663179 CA7260085 |
338 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767920718 CA7260084 |
338 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390323192 rs1171158134 |
339 | A>T | No |
ClinGen TOPMed |
|
|
rs774589942 CA390323051 |
344 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7260082 rs774589942 |
344 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7260083 rs369689703 |
344 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774589942 CA390323054 |
344 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7260081 rs768670360 |
345 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762912914 CA7260080 |
346 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745714720 CA7260077 |
347 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs769615694 CA7260078 |
347 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263863238 CA390322950 |
348 | N>T | No |
ClinGen gnomAD |
|
|
CA390322915 rs1235558816 |
349 | T>N | No |
ClinGen gnomAD |
|
|
CA262623827 rs934934634 |
350 | F>S | No |
ClinGen Ensembl |
|
|
CA390322830 rs1300933493 |
352 | Q>E | No |
ClinGen gnomAD |
|
|
CA390322823 rs1224482338 |
352 | Q>R | No |
ClinGen gnomAD |
|
|
CA7260074 rs116927336 |
353 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770582592 CA7260075 |
353 | E>V | No |
ClinGen ExAC |
|
|
CA390322771 rs1329668878 |
354 | I>F | No |
ClinGen gnomAD |
|
|
CA390322772 rs1329668878 |
354 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 358 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242510715 CA390321686 |
360 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA390321688 rs1242510715 |
360 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1185352895 CA390321677 |
361 | I>V | No |
ClinGen gnomAD |
|
|
rs1339949251 CA390321618 |
364 | Q>K | No |
ClinGen gnomAD |
|
|
CA7260048 rs762131102 |
365 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423126813 CA390321600 |
365 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs189779848 CA7260046 |
367 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751776291 CA7260044 |
368 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764228788 CA7260043 |
369 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs184973348 CA262623250 |
370 | D>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA390321491 rs1340346888 |
371 | Q>P | No |
ClinGen gnomAD |
|
|
CA7260041 rs758502017 |
373 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1236970556 CA390321439 |
373 | V>F | No |
ClinGen Ensembl |
|
| TCGA novel | 374 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398426976 CA390321368 |
376 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs765199935 CA7260039 |
377 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs759510877 CA7260038 |
378 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs766113540 CA7260036 |
379 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201416956 CA7260037 |
379 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1161204916 CA390321260 |
380 | Y>* | No |
ClinGen gnomAD |
|
|
rs1457191423 CA390321252 |
381 | N>D | No |
ClinGen gnomAD |
|
|
rs80266286 CA7260034 |
381 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771686617 CA7260033 |
383 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262623226 rs771686617 |
383 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145019075 CA7260032 |
384 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs901476223 CA262623225 |
386 | K>* | No |
ClinGen Ensembl |
|
|
CA7260031 rs773778823 |
386 | K>N | No |
ClinGen ExAC |
|
|
rs141181710 CA7260029 |
389 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390321006 rs1208467945 |
390 | E>G | No |
ClinGen gnomAD |
|
|
CA390321020 rs1269952987 |
390 | E>Q | No |
ClinGen gnomAD |
|
|
rs1412710527 CA390320845 |
396 | S>N | No |
ClinGen TOPMed |
|
|
rs138339845 CA7260028 |
397 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390320805 rs1252464468 |
398 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1276531155 CA390320783 |
399 | A>E | No |
ClinGen TOPMed |
|
|
CA390320786 rs1401980470 |
399 | A>S | No |
ClinGen TOPMed |
|
|
CA262623206 rs200376408 |
404 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs200376408 CA390320680 |
404 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1034900423 CA262621828 |
407 | P>T | No |
ClinGen TOPMed |
|
|
CA390319443 rs747379328 |
408 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7260005 rs747379328 |
408 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7260004 rs372145393 |
413 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA262621817 rs372145393 |
413 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs950521481 CA262621815 |
413 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7260002 rs374406323 |
414 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390319323 rs1351395085 |
415 | T>P | No |
ClinGen TOPMed |
|
|
rs746934893 CA7260001 |
415 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390319322 rs1351395085 |
415 | T>S | No |
ClinGen TOPMed |
|
|
rs754982683 CA7260000 |
417 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs753983223 CA390319271 |
418 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs753983223 CA7259999 |
418 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA262621806 rs1028448400 |
420 | P>A | No |
ClinGen TOPMed |
|
|
CA390319220 rs1350993457 |
420 | P>L | No |
ClinGen TOPMed |
|
|
CA7259997 rs756090855 |
421 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA390319198 rs1277788082 |
421 | A>V | No |
ClinGen TOPMed |
|
|
CA7259995 rs767173008 |
424 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750197732 CA7259996 |
424 | M>V | No |
ClinGen ExAC |
|
|
CA262621795 rs1019172665 |
426 | L>R | No |
ClinGen TOPMed |
|
|
rs902126363 CA262621798 |
426 | L>V | No |
ClinGen TOPMed |
|
|
CA262621790 rs886611910 |
427 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA390319122 rs1315722243 |
428 | V>M | No |
ClinGen gnomAD |
|
|
rs761686181 CA7259994 |
434 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs151205549 CA7259993 |
435 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390319017 rs1413951004 |
435 | I>V | No |
ClinGen gnomAD |
|
|
CA390319004 rs1555391578 |
436 | K>E | No |
ClinGen Ensembl |
|
|
CA7259992 rs763908695 |
436 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7259991 rs762541640 |
438 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1007842709 CA262621774 |
439 | R>S | No |
ClinGen gnomAD |
|
|
rs775190504 CA7259990 |
440 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1474030724 CA390318928 |
442 | K>M | No |
ClinGen gnomAD |
|
|
rs771534359 CA7259989 |
442 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390318853 rs1186276895 |
447 | L>Q | No |
ClinGen gnomAD |
|
|
rs138823359 CA7259987 |
449 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1566835203 CA390318817 |
450 | D>N | No |
ClinGen Ensembl |
|
|
rs377370249 CA7259986 |
451 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390318766 rs1213995573 |
452 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 453 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142163355 CA7259984 |
453 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376303020 CA7259985 |
453 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229991425 CA390318737 |
454 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA390318740 rs1229991425 |
454 | E>Q | No |
ClinGen gnomAD |
|
|
CA262621758 rs934823036 |
455 | L>V | No |
ClinGen TOPMed |
|
|
rs1555391561 CA390318700 |
456 | V>L | No |
ClinGen Ensembl |
|
|
CA390318678 rs1283508731 |
457 | V>D | No |
ClinGen gnomAD |
|
|
CA7259982 rs768922052 |
458 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA7259980 rs371242361 |
459 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749344337 CA390318656 |
459 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390318616 rs1335230964 |
461 | M>R | No |
ClinGen TOPMed |
|
|
rs750273890 CA7259978 |
465 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs550229301 CA7259979 |
465 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150212644 CA7259976 |
468 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751431280 CA7259974 |
469 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA7259975 rs142566881 |
469 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA262621287 rs927573739 |
473 | I>M | No |
ClinGen Ensembl |
|
|
CA7259953 rs200546108 |
473 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752339605 CA7259954 |
473 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7259952 rs376585302 |
474 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7259951 rs753444525 |
475 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA390318038 rs1218324670 |
478 | E>D | No |
ClinGen TOPMed |
|
|
CA7259950 rs767885082 |
478 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7259949 rs202122330 |
480 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7259948 rs774866110 |
481 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1488209711 CA390318022 |
481 | E>G | No |
ClinGen TOPMed |
|
|
rs763315963 CA7259946 |
482 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs763315963 CA7259947 |
482 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs775690167 CA7259945 |
483 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1325591288 CA390317973 |
485 | Q>H | No |
ClinGen gnomAD |
|
|
rs202176958 CA7259943 |
486 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 487 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757792248 CA262621277 |
488 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 489 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390317895 rs1595117219 |
490 | L>R | No |
ClinGen Ensembl |
|
|
rs1464709246 CA390317885 |
491 | H>R | No |
ClinGen gnomAD |
|
|
rs770948863 CA7259938 |
494 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777866454 CA7259937 |
495 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs971816996 CA262621262 |
495 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs777866454 CA7259936 COSM1587608 |
495 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748022352 CA7259934 |
496 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA390317815 rs748022352 |
496 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA262621256 rs1016388098 |
498 | A>G | No |
ClinGen Ensembl |
|
|
rs1399321156 CA390317794 |
498 | A>S | No |
ClinGen TOPMed |
|
|
rs145046095 CA7259933 |
499 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369061780 CA7259932 |
501 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1480351764 CA390317746 |
501 | T>I | No |
ClinGen gnomAD |
|
|
CA390317732 rs1274358945 |
502 | C>Y | No |
ClinGen TOPMed |
|
|
rs753253684 CA7259928 |
503 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779573593 CA7259927 |
506 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7259926 rs755640056 |
507 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 507 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390317662 rs1379569435 |
508 | E>Q | No |
ClinGen gnomAD |
|
|
rs144497759 CA7259924 |
509 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139427381 CA7259925 |
509 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs561979241 CA7259923 |
510 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs149682279 CA7259921 |
511 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753112028 CA7259922 |
511 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1414514267 CA390317613 |
512 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390317588 rs1421353014 |
514 | T>N | No |
ClinGen gnomAD |
|
|
CA7259919 rs759765321 |
515 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7259918 rs776741055 |
516 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390317548 rs1424273540 |
517 | R>I | No |
ClinGen gnomAD |
|
|
rs369782421 CA7259900 |
520 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139510992 CA7259898 |
521 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390316657 rs1400304749 |
522 | T>A | No |
ClinGen TOPMed |
|
|
rs1243165018 CA390316629 |
523 | I>T | No |
ClinGen gnomAD |
|
|
CA390316600 rs1165980942 |
524 | Q>H | No |
ClinGen TOPMed |
|
|
CA7259897 rs773473559 |
525 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566831794 CA390316589 |
525 | D>H | No |
ClinGen Ensembl |
|
|
CA7259895 rs150885411 |
527 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA262620621 rs899641362 |
528 | E>D | No |
ClinGen Ensembl |
|
|
CA390316506 rs1445078550 |
529 | V>A | No |
ClinGen TOPMed |
|
|
CA390316507 rs1445078550 |
529 | V>G | No |
ClinGen TOPMed |
|
| TCGA novel | 530 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390316479 rs1280757491 |
532 | P>R | No |
ClinGen TOPMed |
|
|
CA7259892 rs774175371 |
533 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1317181908 CA390316447 |
535 | E>* | No |
ClinGen gnomAD |
|
|
CA7259891 rs768436223 |
536 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs749037745 CA7259890 |
537 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA390316415 rs1293485713 |
538 | L>F | No |
ClinGen TOPMed |
|
|
CA390316388 rs912605715 |
540 | D>G | No |
ClinGen gnomAD |
|
|
CA390316392 rs1280426886 |
540 | D>N | No |
ClinGen gnomAD |
|
|
rs912605715 CA262620607 |
540 | D>V | No |
ClinGen gnomAD |
|
|
rs1417291760 CA390316354 |
542 | N>S | No |
ClinGen gnomAD |
|
|
CA7259889 rs779747670 |
545 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7259887 rs139023851 |
546 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7259888 COSM1477751 rs769490211 |
546 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA390316290 rs1192737602 |
548 | A>S | No |
ClinGen gnomAD |
|
|
CA390316292 rs1192737602 |
548 | A>T | No |
ClinGen gnomAD |
|
|
CA390316284 rs1452549601 |
548 | A>V | No |
ClinGen gnomAD |
|
|
COSM1370973 rs1052437551 CA262620604 |
549 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA390316266 rs1208601980 |
550 | A>S | No |
ClinGen gnomAD |
|
|
CA390316241 rs1259229847 |
552 | C>R | No |
ClinGen gnomAD |
|
|
CA7259884 rs756784707 |
554 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7259885 rs756784707 |
554 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs748631740 CA7259883 |
557 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs528745592 CA7259882 |
559 | H>R | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 561 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7259881 rs754213415 |
563 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7259880 rs754213415 |
563 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7259878 rs146144273 |
564 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs76870457 CA7259877 |
564 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146144273 CA7259879 |
564 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768609673 CA7259875 |
568 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7259874 rs774274443 |
569 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1394336546 CA390315990 |
570 | A>V | No |
ClinGen gnomAD |
|
|
CA7259872 rs763999300 |
572 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA262620318 rs1030880150 |
575 | N>D | No |
ClinGen Ensembl |
|
|
rs1207361448 CA390315845 |
576 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs967880331 CA262620313 |
579 | S>G | No |
ClinGen TOPMed |
|
|
rs751642682 CA7259853 |
580 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA7259852 rs764063608 |
580 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA7259851 rs762763576 |
581 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7259849 rs764954765 |
584 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA390315725 rs540004451 |
585 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7259848 rs540004451 |
585 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776263591 CA7259847 |
586 | L>V | No |
ClinGen ExAC |
|
|
rs1471978198 CA390315672 |
589 | E>K | No |
ClinGen TOPMed |
|
|
rs772638121 COSM2153050 CA390315652 |
590 | G>D | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs199865768 CA7259845 |
590 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7259844 rs772638121 |
590 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361609856 CA390315637 |
591 | T>I | No |
ClinGen gnomAD |
|
|
CA7259841 rs548486809 |
593 | T>I | No |
ClinGen ExAC |
|
|
CA390315584 rs1160869161 |
595 | P>L | No |
ClinGen gnomAD |
|
|
CA390315541 rs746299059 |
598 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473494822 CA390315538 |
599 | R>G | No |
ClinGen gnomAD |
|
|
rs1186803511 CA390315505 |
601 | L>F | No |
ClinGen gnomAD |
|
|
CA7259836 rs781546329 |
602 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA390315460 rs1408710981 |
605 | F>L | No |
ClinGen TOPMed |
|
|
rs1213444651 CA390315407 |
608 | K>N | No |
ClinGen gnomAD |
|
|
CA7259834 rs367837696 |
610 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229905745 CA390315377 |
611 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA262620291 rs1022820030 |
613 | E>Q | No |
ClinGen Ensembl |
|
|
COSM1707574 rs1291472238 CA390315354 |
614 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs777669136 CA7259832 |
615 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs758520120 CA7259831 |
615 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs374677684 CA390315341 |
616 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7259830 rs374677684 |
616 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7259827 rs371528382 |
618 | I>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7259828 rs765227605 |
618 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1230567256 CA390315311 |
621 | S>N | No |
ClinGen TOPMed |
|
|
rs1012267443 CA262620282 |
621 | S>R | No |
ClinGen gnomAD |
|
|
rs1341500108 CA390315282 |
625 | E>A | No |
ClinGen TOPMed |
|
|
rs1341500108 CA390315281 |
625 | E>G | No |
ClinGen TOPMed |
|
|
CA7259826 rs753680279 |
627 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs766021358 CA7259825 |
627 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231575055 CA390328498 |
628 | T>I | No |
ClinGen TOPMed |
|
|
rs749971982 CA7259805 |
633 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs760529326 CA7259806 |
633 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs12894435 VAR_028817 CA390328349 |
634 | L>H | No |
ClinGen UniProt TOPMed dbSNP |
|
|
rs12894435 CA390328323 |
634 | L>P | No |
ClinGen TOPMed |
|
|
CA390328357 rs1448105262 |
634 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7259804 rs143649458 |
635 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774047581 CA7259802 |
636 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA7259803 rs761391001 |
636 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1042610492 CA262659100 |
637 | E>V | No |
ClinGen TOPMed |
|
|
CA390328244 rs1359443792 |
638 | L>P | No |
ClinGen gnomAD |
|
|
rs752604931 CA262659091 |
640 | S>G | No |
ClinGen Ensembl |
|
|
rs1394192526 CA390328127 |
642 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760076062 CA7259800 |
643 | W>* | No |
ClinGen ExAC gnomAD |
|
|
VAR_028818 CA262659080 rs12894425 |
643 | W>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA7259798 rs372980757 |
646 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370313641 CA262659056 |
647 | I>F | No |
ClinGen ESP TOPMed |
|
|
rs576219698 CA390327913 |
647 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576219698 CA7259796 |
647 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7259795 rs772331853 |
648 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778922454 CA7259793 |
649 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA390327856 rs1241289456 |
649 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1319306360 CA390327843 |
650 | C>Y | No |
ClinGen gnomAD |
|
|
rs375723728 CA262658979 |
655 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7259789 rs139632154 |
655 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375723728 CA7259791 |
655 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372430555 COSM1740133 CA7259788 |
656 | I>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7259787 rs372430555 |
656 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1595105801 CA390327597 |
657 | S>R | No |
ClinGen Ensembl |
|
|
rs375929384 CA390327574 |
657 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7259784 rs146324119 |
658 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs267604048 CA390327512 |
659 | N>K | No |
ClinGen gnomAD |
|
|
VAR_028819 rs12894400 CA262658925 |
660 | V>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs138786560 CA7259783 |
661 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA262658920 rs966695362 |
661 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA390327453 rs1257050867 |
662 | L>* | No |
ClinGen gnomAD |
|
|
rs1217883193 CA390327440 CA390327445 |
662 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs766968201 CA7259781 |
662 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs745827012 CA7259769 |
665 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745827012 CA262655959 |
665 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs943248710 CA262655954 |
666 | H>N | No |
ClinGen Ensembl |
|
| TCGA novel | 666 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781088389 CA7259768 |
666 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs558821646 CA7259766 |
671 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7259765 rs372061895 |
672 | M>I | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs757968898 CA7259764 |
674 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1050467088 CA262655922 |
677 | N>H | No |
ClinGen TOPMed |
|
|
CA390325524 rs1229084986 |
678 | K>N | No |
ClinGen gnomAD |
|
|
rs1566827567 CA390325541 |
678 | K>Q | No |
ClinGen Ensembl |
|
|
rs1324490130 CA390325507 |
679 | E>V | No |
ClinGen gnomAD |
|
|
CA262655916 rs111562922 |
680 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs752302136 CA7259763 |
683 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1387116281 CA390325417 |
684 | A>G | No |
ClinGen gnomAD |
|
|
rs934230619 CA262655887 |
686 | Q>* | No |
ClinGen TOPMed |
|
|
CA390325363 rs1323804503 |
687 | A>G | No |
ClinGen gnomAD |
|
|
rs1323804503 CA390325361 |
687 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761202138 CA390325351 |
688 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs761202138 CA7259761 |
688 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs922789545 CA262655870 |
691 | M>T | No |
ClinGen TOPMed |
|
|
rs142135484 CA7259760 |
693 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7259758 rs201974868 |
694 | G>R | Variant assessed as Somatic; 4.628e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA390325145 rs1566827511 |
697 | V>M | No |
ClinGen Ensembl |
|
|
rs1225382069 CA390325127 |
698 | H>N | No |
ClinGen TOPMed |
|
|
rs762917216 CA7259754 |
699 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775676644 CA7259753 |
700 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1008304357 CA262655848 |
700 | I>L | No |
ClinGen TOPMed |
|
|
rs775676644 CA262655824 |
700 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 703 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771041907 CA7259730 |
705 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA390323752 rs1362664512 |
706 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 706 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752940929 CA390323758 |
706 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7259729 rs752940929 |
706 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188259662 CA390323649 |
710 | S>Y | No |
ClinGen gnomAD |
|
|
CA390323631 rs1486473779 |
711 | Q>P | No |
ClinGen gnomAD |
|
|
rs777673912 CA7259728 |
712 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs747777053 CA7259726 |
713 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141137854 CA7259724 |
713 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141137854 CA7259725 |
713 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390323555 rs747777053 |
713 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390323515 rs1196304706 |
714 | V>M | No |
ClinGen TOPMed |
|
|
rs753400406 CA7259722 |
715 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7259721 rs781645311 |
718 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390323389 rs781645311 |
718 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390323293 rs1418703420 |
720 | I>T | No |
ClinGen TOPMed |
|
|
rs1348656278 CA390323277 |
721 | G>A | No |
ClinGen gnomAD |
|
|
rs752089743 CA7259718 |
726 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA390323143 rs1278991708 |
726 | M>R | No |
ClinGen gnomAD |
|
| TCGA novel | 726 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362563520 CA390323107 |
727 | T>N | No |
ClinGen gnomAD |
|
|
CA7259716 rs763234344 |
728 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 728 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7259715 rs752962339 |
729 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs371493329 CA7259713 |
729 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7259714 rs371493329 |
729 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776891385 CA7259712 |
730 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs760642546 CA7259710 |
731 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs201492591 CA7259709 |
733 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1475892550 CA390322863 |
735 | L>P | No |
ClinGen gnomAD |
|
|
CA390322647 rs1415293000 |
739 | S>C | No |
ClinGen gnomAD |
|
|
CA390322592 rs1186692379 |
742 | F>L | No |
ClinGen gnomAD |
|
|
rs755395364 CA7259707 |
743 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs755395364 CA390322563 |
743 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs201293726 CA262653818 |
744 | A>T | No |
ClinGen 1000Genomes |
|
|
CA262653817 rs200275195 |
744 | A>V | No |
ClinGen Ensembl |
|
|
CA390322521 rs1566826181 |
745 | V>A | No |
ClinGen Ensembl |
|
|
CA7259706 rs774036680 |
745 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7259704 rs570028550 |
746 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7259705 rs768238517 |
746 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA262653777 rs201799912 |
747 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201799912 CA7259703 |
747 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7259702 rs201799912 |
747 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754322974 CA262653789 |
747 | R>W | No |
ClinGen gnomAD |
|
|
CA390322491 rs1595096163 |
748 | A>P | No |
ClinGen Ensembl |
|
|
CA262653763 rs1054837312 |
750 | C>S | No |
ClinGen TOPMed |
|
|
rs927659000 CA262653756 |
751 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA7259700 rs778213775 |
752 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 754 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs997723679 CA262653755 |
755 | A>V | No |
ClinGen Ensembl |
|
|
CA390322304 rs1489527111 |
758 | I>T | No |
ClinGen gnomAD |
|
|
rs148646899 CA7259698 |
759 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7259699 rs148646899 |
759 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371496251 CA7259696 |
759 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7259697 rs148646899 |
759 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7259693 rs571262582 |
760 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7259692 rs571262582 |
760 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390322242 rs1421166878 |
761 | K>R | No |
ClinGen gnomAD |
|
|
rs1474957641 CA390322213 |
762 | M>I | No |
ClinGen gnomAD |
|
|
rs767412277 CA390322220 |
762 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767412277 CA7259691 |
762 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390321008 rs1264557878 |
763 | V>L | No |
ClinGen TOPMed |
|
|
CA390320984 rs1566825108 |
764 | L>F | No |
ClinGen Ensembl |
|
|
rs758869003 CA7259682 |
766 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7259681 rs543489401 |
767 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 771 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs530901532 CA262652584 |
771 | M>R | No |
ClinGen Ensembl |
|
|
rs184273633 CA7259680 |
773 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7259679 rs755408967 |
774 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754044635 CA7259677 |
775 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs754044635 CA390320711 |
775 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA390320695 rs1190983211 |
776 | Y>* | No |
ClinGen TOPMed |
|
|
CA390320687 rs1482948103 |
777 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7259676 rs766774208 |
779 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs756248510 CA7259675 |
781 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA390320616 rs1346406108 |
782 | F>V | No |
ClinGen gnomAD |
|
|
CA7259674 rs750514189 |
783 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1478430297 CA390320597 |
783 | A>V | No |
ClinGen TOPMed |
|
|
CA390320582 rs1296113914 |
784 | I>T | No |
ClinGen gnomAD |
|
|
CA262652484 rs900211144 |
784 | I>V | No |
ClinGen gnomAD |
|
|
CA7259672 COSM3420015 rs114232158 |
785 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs751535322 CA7259671 |
785 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390320506 rs1472298931 |
786 | A>V | No |
ClinGen gnomAD |
|
|
CA390320490 rs1190247969 |
788 | G>R | No |
ClinGen gnomAD |
|
|
rs781082758 CA7259654 |
789 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA7259653 rs761728396 |
790 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs757370272 CA7259652 |
790 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA390320450 rs1595092776 |
791 | G>E | No |
ClinGen Ensembl |
|
|
CA262651880 rs370995902 |
794 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1274682606 CA390320401 |
795 | P>L | No |
ClinGen gnomAD |
|
|
CA390320406 rs1192246915 |
795 | P>S | No |
ClinGen TOPMed |
|
|
CA7259648 rs560717184 |
796 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529234872 CA7259647 COSM1587610 |
798 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs759064666 CA7259643 |
800 | L>I | No |
ClinGen ExAC |
|
|
CA7259642 rs190615108 |
801 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390320303 rs1456782513 |
804 | A>S | No |
ClinGen gnomAD |
|
|
rs1595092706 CA390320300 |
804 | A>V | No |
ClinGen Ensembl |
|
|
rs770282493 CA7259641 |
807 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA390320280 rs1161024262 |
807 | Y>C | No |
ClinGen TOPMed |
|
|
CA390320268 rs368290343 |
809 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368290343 CA7259640 |
809 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1478988313 CA390320255 |
811 | P>A | No |
ClinGen gnomAD |
|
|
rs374099726 CA7259639 |
811 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769332403 CA7259638 |
812 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194411570 CA390320251 |
812 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390320243 rs1347538816 |
813 | V>A | No |
ClinGen TOPMed |
|
|
rs140104691 CA7259637 |
813 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs59042606 CA7259636 |
814 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA262651783 rs759352397 |
814 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA7259635 rs770303872 |
815 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256171844 CA390320233 |
816 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 818 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746016844 CA7259634 |
819 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746016844 CA390320211 |
819 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7259633 rs543425089 |
819 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390320205 rs1316817063 |
820 | S>N | No |
ClinGen TOPMed |
|
|
rs747162876 CA390320195 |
821 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7259632 rs757272821 |
821 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1291869308 CA390320199 |
821 | I>V | No |
ClinGen TOPMed |
|
|
rs903789204 CA262651750 |
823 | A>P | No |
ClinGen TOPMed |
|
|
rs1262092186 CA390320185 |
823 | A>V | No |
ClinGen gnomAD |
|
|
rs1595092583 CA390320167 |
825 | K>N | No |
ClinGen Ensembl |
|
|
CA262651726 rs974607126 |
827 | Q>H | No |
ClinGen gnomAD |
|
|
CA7259630 rs777656399 |
827 | Q>L | No |
ClinGen ExAC |
|
|
rs1441495214 CA390320135 CA390320133 |
828 | G>R | No |
ClinGen gnomAD |
|
|
CA7259628 rs758297232 |
829 | D>G | No |
ClinGen ExAC |
|
|
rs1373053499 CA390320121 |
829 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA390320116 rs1373053499 |
829 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7259626 rs764956991 |
830 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7259627 rs760660588 |
830 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200299006 CA7259625 |
831 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390320096 rs1390370206 |
831 | V>I | No |
ClinGen gnomAD |
|
|
rs1463861955 CA390320074 |
832 | R>S | No |
ClinGen gnomAD |
|
|
rs1566824495 CA390320042 |
834 | T>I | No |
ClinGen Ensembl |
|
|
CA390320030 rs1455117564 |
835 | F>C | No |
ClinGen gnomAD |
|
|
rs370727396 CA7259624 |
835 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1008518822 CA262651676 |
837 | D>G | No |
ClinGen Ensembl |
|
|
CA7259622 rs139754765 |
838 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs904668433 CA262651588 |
843 | N>D | No |
ClinGen Ensembl |
|
|
CA390319863 rs1479553851 |
843 | N>K | No |
ClinGen gnomAD |
|
|
rs763504055 CA390319870 |
843 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763504055 CA7259619 |
843 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390319852 rs1450760388 |
844 | H>Y | No |
ClinGen gnomAD |
|
|
CA7259617 COSM1587611 rs769983717 |
845 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7259616 rs746303750 |
846 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA262651529 rs746643686 |
847 | V>I | No |
ClinGen Ensembl |
|
|
rs746643686 CA262651523 |
847 | V>L | No |
ClinGen Ensembl |
|
|
CA7259615 rs776696206 |
849 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA390319578 CA390319576 rs8014577 |
849 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761410194 CA7259602 |
850 | E>Q | No |
ClinGen ExAC |
|
|
rs1415789461 CA390319557 |
851 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA262650406 rs1018193760 |
852 | Y>* | No |
ClinGen gnomAD |
|
|
CA390319474 rs141407968 CA7259601 |
855 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA |
|
CA7259600 rs765823907 |
857 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 858 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7259599 rs148329758 |
859 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA262650388 rs891162250 |
859 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA262650386 rs867606009 |
860 | L>V | No |
ClinGen Ensembl |
|
|
rs377704624 CA262650380 |
861 | G>A | No |
ClinGen ESP |
|
|
CA390319366 rs1188147365 |
861 | G>R | No |
ClinGen gnomAD |
|
|
CA7259596 rs202004334 |
864 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7259595 rs773430248 |
864 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1000042399 CA262650374 |
865 | N>S | No |
ClinGen Ensembl |
|
|
rs1198883434 CA390319268 |
866 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 867 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA262650369 rs902992082 |
867 | E>K | No |
ClinGen gnomAD |
|
|
rs143275602 CA7259594 |
871 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390319086 rs1234079974 |
875 | R>K | No |
ClinGen gnomAD |
|
|
rs1267760168 CA390319090 |
875 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 886 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390318481 rs1322395443 |
891 | K>T | No |
ClinGen gnomAD |
|
|
rs1410337857 CA390318427 |
893 | E>Q | No |
ClinGen gnomAD |
|
|
rs866508305 CA262649552 |
894 | M>I | No |
ClinGen Ensembl |
|
|
CA7259572 rs374999620 |
894 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7259571 rs774446122 |
895 | V>A | No |
ClinGen ExAC |
|
|
rs768636996 CA7259569 |
896 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138404328 CA7259568 |
896 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 897 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs562665737 CA7259567 |
897 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769705232 CA7259566 |
899 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7259564 rs780961946 |
900 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221042458 CA390318280 |
901 | E>K | No |
ClinGen gnomAD |
|
|
rs371721743 CA7259562 |
902 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390318261 rs1260495999 |
903 | A>G | No |
ClinGen TOPMed |
|
|
CA7259561 rs143634597 |
905 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7259560 rs757855044 |
905 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 905 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7259559 rs754368305 |
906 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs754368305 CA390318247 |
906 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA262649365 rs1016568967 |
908 | L>S | No |
ClinGen Ensembl |
|
|
CA390318234 rs766856357 |
908 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs368885398 CA7259557 |
911 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368885398 CA390318213 |
911 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7259556 rs750824973 |
912 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA7259555 rs76429074 |
912 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 916 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7259552 rs768714254 |
917 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs775482630 CA7259550 |
919 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs775482630 CA390318165 |
919 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 920 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA262649325 rs1057087220 |
923 | L>P | No |
ClinGen TOPMed |
|
|
CA7259547 rs776519128 |
926 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1470661393 CA390318111 |
927 | F>V | No |
ClinGen gnomAD |
|
|
rs1402345559 CA390318103 |
928 | Q>* | No |
ClinGen TOPMed |
|
|
rs994599270 CA262647614 |
929 | D>A | No |
ClinGen TOPMed |
|
|
CA262647611 rs949125368 |
929 | D>E | No |
ClinGen Ensembl |
|
|
rs867384383 CA262647605 COSM3793838 |
930 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA390315244 rs1258607735 |
931 | M>L | No |
ClinGen gnomAD |
|
|
CA390315231 rs1358824522 |
932 | V>A | No |
ClinGen gnomAD |
|
|
CA390315230 rs1358824522 |
932 | V>G | No |
ClinGen gnomAD |
|
|
CA390315227 rs1286768551 |
933 | L>F | No |
ClinGen gnomAD |
|
|
CA7259533 rs751799729 |
935 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390315209 rs1436949768 |
936 | R>K | No |
ClinGen TOPMed |
|
|
CA7259530 rs763059759 |
937 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7259532 rs764279758 |
937 | P>T | No |
ClinGen ExAC |
|
|
rs765430825 CA7259528 |
939 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372192138 CA7259529 |
939 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390315174 rs759489283 |
940 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs759489283 CA7259527 |
940 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA390315147 rs1265877939 |
941 | C>G | No |
ClinGen gnomAD |
|
|
CA390315132 rs1335035368 |
942 | D>G | No |
ClinGen gnomAD |
|
|
COSM3793836 rs368459350 CA7259526 |
942 | D>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA390315125 rs1314665494 |
943 | T>A | No |
ClinGen gnomAD |
|
|
CA7259525 rs770849670 |
944 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746840355 CA7259524 |
945 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1211954311 CA390315059 |
947 | I>K | No |
ClinGen TOPMed |
|
|
rs1211954311 CA390315058 |
947 | I>T | No |
ClinGen TOPMed |
|
|
CA390315034 rs1254093525 |
948 | K>M | No |
ClinGen TOPMed |
|
|
rs891998739 CA262647500 |
948 | K>N | No |
ClinGen TOPMed |
|
|
CA7259163 rs749212829 |
949 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs553214705 CA7259162 |
950 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA262634071 rs950295286 |
951 | K>T | No |
ClinGen TOPMed |
|
|
rs1309422011 CA390307321 |
952 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 953 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770540610 CA7259159 |
954 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1364211500 CA390307288 |
955 | P>S | No |
ClinGen TOPMed |
|
|
rs376766187 CA7259157 |
956 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA262634054 rs1012161417 |
956 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7259155 rs754159325 |
957 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7259156 COSM1707568 rs755301511 |
957 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1397670034 CA390307253 |
958 | W>* | No |
ClinGen gnomAD |
|
|
CA390307246 rs1167112575 |
958 | W>* | No |
ClinGen TOPMed |
|
|
rs895087160 CA262634045 |
959 | L>F | No |
ClinGen gnomAD |
|
|
rs373548113 CA7259154 |
960 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7259153 rs756229010 |
961 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA7259152 rs750666419 |
962 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs767493773 CA390307055 |
964 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7259151 rs767493773 |
964 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA390307046 rs1158786607 |
965 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs138661709 CA7259150 |
966 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7259149 rs370578275 |
967 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs567620340 CA7259147 |
969 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7259146 rs567620340 |
969 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1324761337 CA390307027 |
969 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 970 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390307026 rs1337948439 |
970 | S>R | No |
ClinGen TOPMed |
|
|
rs1440424174 CA390307014 |
971 | K>R | No |
ClinGen TOPMed |
|
|
CA7259145 rs769635857 |
972 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7259144 rs141489673 |
973 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141489673 CA390307001 |
973 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390306995 rs1235671044 |
974 | S>L | No |
ClinGen TOPMed |
|
|
rs1307172988 CA390306989 |
975 | S>L | No |
ClinGen gnomAD |
|
|
CA390306983 rs1274565334 |
976 | L>R | No |
ClinGen TOPMed |
|
|
CA7259143 rs776401200 |
978 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770323501 CA7259142 |
979 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746559676 CA262634013 |
980 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA7259141 rs746559676 |
980 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7259139 rs769098135 |
981 | R>C | No |
ClinGen ExAC |
|
|
CA262633997 rs978826551 |
981 | R>H | No |
ClinGen TOPMed |
|
|
CA390306956 rs978826551 |
981 | R>L | No |
ClinGen TOPMed |
|
|
CA262633994 rs920763139 |
983 | S>F | No |
ClinGen Ensembl |
|
|
CA7259137 rs780220370 |
984 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390306942 rs1270921984 |
984 | P>H | No |
ClinGen gnomAD |
|
|
rs777140747 CA7259134 |
985 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771489599 CA262633979 |
986 | K>E | No |
ClinGen Ensembl |
|
|
CA390306911 rs1232238628 |
989 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 989 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461899734 CA390306906 |
989 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA262633973 rs150091916 |
991 | G>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7259127 rs759422294 |
996 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7259128 rs759422294 |
996 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7259125 rs150958075 |
998 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA262633956 rs993317882 |
1000 | L>P | No |
ClinGen TOPMed |
|
|
CA390306831 rs772647746 |
1001 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760340767 CA7259124 |
1001 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1408588687 CA390306823 |
1003 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7259122 rs771571648 |
1005 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7259121 rs749795772 |
1008 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7259118 rs781443686 |
1010 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs781443686 CA7259117 |
1010 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA7259114 rs747247865 |
1015 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs144019404 CA7259115 |
1015 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs139188683 CA7259113 |
1016 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7259111 rs752552811 |
1017 | S>F | No |
ClinGen ExAC |
|
| TCGA novel | 1021 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487560338 CA390306692 |
1023 | G>D | No |
ClinGen gnomAD |
|
|
rs369053539 CA7259109 |
1023 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753617362 CA7259108 |
1024 | A>D | No |
ClinGen ExAC |
|
|
rs78324893 CA262633896 |
1025 | H>Q | No |
ClinGen Ensembl |
|
|
CA390306682 rs1353051678 |
1025 | H>R | No |
ClinGen TOPMed |
|
|
rs374731911 CA7259107 |
1025 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q86WZ0
1 regional properties for Q86WZ0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | HEAT repeat | 530 - 558 | IPR000357 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| oxidoreductase activity | Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTRTQKGKTF | LPHCFYQSLP | PRLGWGMILN | YSKLKGKEEC | ASVSSVPMVF | FSSQYRLHRK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SQYLKMAAAN | LTFSQEVVWQ | RGLPSIPYSQ | YSFDHLYNTN | DIIHTPQIRK | ARPQKPVSFK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FLGSSSPLTG | DTSLAVKTES | SANPEKKLKK | SKPASTVREA | PRPLIHHPCM | HPDMLGRPPS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LDVNLEEREA | WLLPPEKEAR | AWEATVLEKL | NERTARWIQS | KRPRRPGASP | NKWQSFLRQQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YDWSHIRDEL | TSASDLELLK | QLEAEETAEF | EDQSVILPPQ | EKKKPELLLP | VYYRLPSYFQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QAETVEIMPG | NKSTEDIHEK | TSLSQPQTQS | YFRQVTPRAG | KFAYSTDNTF | EQEIYFDEVQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IIHQIGAKRD | QIVLENLNRY | NKQLSKVFPE | TPEKWSAQAI | PEASYRPVQG | ALRWTALPTP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AKDMLLQVGE | KDVPIKTRRL | KKQAKSLQED | VTWELVVLRR | MLKEWKTAWA | LIIEWHHETV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ENLLQSLGDL | HDDVRIKAIT | TCATAALERP | RIATSQRDSD | KTIQDLPEVL | LPALEAALCD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KNAHVRMAAA | ICQYAIQSHN | PLARNIMQTA | LLKGNSVDSW | AAAQCLALEG | TATYPVIKRI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LHQLFTKKNE | DTEEQSYILL | SYLSEKTTLI | HTMLAVELNS | CQWKNRIVAC | QAFSRISGNV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| CLDMKHKLIQ | LMWNDWNKEV | RRAAAQALGQ | MSLGKEVHDI | IRVKLGQGNS | QERVEALYLI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GELKLMTAKL | LPSFLHCFSD | DFTAVRRAAC | LAAGALQIRD | KMVLECLLNL | MQRDPYWKIK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| AFAIRALGQI | GQVSPELTDL | LLWAIHYEES | PGVRLEACRS | ILALKLQGDR | VRDTFLDVLL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LENHDAVLKE | MYQTMKILNL | GNEGNQEMLQ | EIKNRIKTLS | QKDLLTHKIL | KLEMVMGKVR |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EEAKRVYLKP | KGEQGPLTLQ | TLLQETFQDE | MVLPRRPSEV | CDTEAVIKPV | KPRAPNPWLQ |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SSVPGLTTRS | KVRSSLVKDL | RTSPEKRIAV | GPFRSDYPAL | YLGKFSERTF | FSPIMSSPSG |
| KKGAHL |