P50748
Gene name |
KNTC1 (KIAA0166) |
Protein name |
Kinetochore-associated protein 1 |
Names |
Rough deal homolog, HsROD, Rod, hRod |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9735 |
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
2 structures for P50748
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7QPG | EM | 390 A | R/S | 2-2209 | PDB |
| AF-P50748-F1 | Predicted | AlphaFoldDB |
1697 variants for P50748
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs267603355 CA244756865 RCV002773501 |
1254 | S>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000205944 CA350033 rs772156434 |
2209 | S>L | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1306686430 CA387048038 |
2 | W>* | No |
ClinGen gnomAD |
|
|
rs770102985 CA6847065 |
3 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780248943 CA6847066 |
4 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6847067 rs556183893 |
5 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA387048103 rs574708956 |
6 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387048085 rs1356725949 |
6 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1356725949 CA387048087 |
6 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs774941412 CA6847069 |
7 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1335724258 CA387048132 |
9 | T>A | No |
ClinGen TOPMed |
|
|
CA6847072 rs776265472 |
9 | T>K | No |
ClinGen ExAC |
|
|
CA387048146 rs1274882275 |
10 | N>Y | No |
ClinGen TOPMed |
|
|
rs75209631 CA6847074 CA6847073 |
11 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6847076 rs762674837 |
13 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA387048213 rs1565922586 |
13 | T>I | No |
ClinGen Ensembl |
|
|
rs61751319 CA6847078 |
14 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244770389 rs982532025 |
15 | S>T | No |
ClinGen TOPMed |
|
|
rs757242792 CA6847079 |
16 | G>R | No |
ClinGen ExAC |
|
|
CA6847082 rs756177730 |
21 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397726585 CA387048354 |
22 | S>L | No |
ClinGen gnomAD |
|
|
CA387048428 rs201024338 |
26 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6847086 rs201024338 |
26 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6847087 rs748655836 |
27 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs772757441 CA6847088 |
31 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs775975545 CA6847089 |
32 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs61752342 CA6847090 |
32 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 34 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387048599 rs1309523023 |
37 | V>G | No |
ClinGen gnomAD |
|
|
rs762656292 CA6847093 |
39 | I>T | No |
ClinGen ExAC |
|
|
CA387048648 rs1184407730 |
40 | S>F | No |
ClinGen gnomAD |
|
|
CA244770475 rs894007649 |
41 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1315504340 CA387048677 |
42 | E>G | No |
ClinGen gnomAD |
|
|
CA6847094 rs200159316 |
43 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 44 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM936245 rs1428064708 CA387049631 |
44 | A>S | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA387049634 rs1287738931 |
44 | A>V | No |
ClinGen gnomAD |
|
|
rs1401820083 CA387049637 |
45 | S>P | No |
ClinGen gnomAD |
|
|
CA244774559 rs890638812 |
47 | N>S | No |
ClinGen Ensembl |
|
|
CA387049688 rs1223823399 |
49 | K>N | No |
ClinGen gnomAD |
|
|
CA387049685 rs1344708529 |
49 | K>R | No |
ClinGen gnomAD |
|
|
CA244774563 rs1010782630 |
50 | I>L | No |
ClinGen Ensembl |
|
|
CA6847114 rs761545034 |
50 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs192257012 CA244774585 |
51 | Q>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 52 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387049736 rs1343898991 |
53 | C>* | No |
ClinGen TOPMed |
|
|
CA387049752 rs1215294760 |
55 | L>* | No |
ClinGen gnomAD |
|
|
rs767232160 CA6847116 |
56 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA387049762 rs184547596 |
57 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6847117 rs184547596 |
57 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6847118 rs61750346 |
58 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6847119 rs139484580 |
61 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779777954 CA244774610 |
63 | A>T | No |
ClinGen gnomAD |
|
|
CA244774619 rs1018492342 |
64 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1018492342 CA387049807 |
64 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA387049828 rs1300405349 |
67 | V>L | No |
ClinGen gnomAD |
|
|
CA387049837 rs1360672545 |
68 | I>T | No |
ClinGen gnomAD |
|
|
rs1392308134 CA387049843 |
69 | L>S | No |
ClinGen TOPMed |
|
|
rs144203181 CA6847124 |
72 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1405350508 CA387049870 |
73 | I>V | No |
ClinGen gnomAD |
|
|
CA6847125 rs758719233 |
76 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA244774657 rs770442709 |
79 | L>F | No |
ClinGen Ensembl |
|
|
CA387049931 rs1180948984 |
82 | V>D | No |
ClinGen Ensembl |
|
|
rs929827540 CA244774678 |
82 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA387050098 rs1249513564 |
84 | D>G | No |
ClinGen gnomAD |
|
|
CA6847147 rs541135571 |
85 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244777896 rs1004047217 |
85 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387050137 rs778462805 |
88 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs778462805 CA6847149 |
88 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA387050147 rs1384134907 |
89 | V>I | No |
ClinGen gnomAD |
|
|
CA387050163 rs1164939150 |
90 | V>A | No |
ClinGen gnomAD |
|
|
rs1164939150 CA387050161 |
90 | V>D | No |
ClinGen gnomAD |
|
|
CA6847150 rs747823877 |
90 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387050172 rs771672303 |
91 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs771672303 CA6847151 |
91 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6847153 rs746744152 |
92 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs770874429 CA6847154 |
93 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs776641631 CA6847155 |
94 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 96 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759611710 CA6847156 |
96 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6847157 rs751383353 |
99 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387050269 rs1268944121 |
100 | L>* | No |
ClinGen gnomAD |
|
|
CA6847158 rs775757438 |
101 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1215552863 CA387050284 |
102 | G>V | No |
ClinGen gnomAD |
|
|
CA244778006 rs971928204 |
103 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1593485058 CA387050299 |
103 | E>D | No |
ClinGen Ensembl |
|
|
CA244778005 rs971928204 |
103 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs920414911 CA244778011 |
104 | R>G | No |
ClinGen Ensembl |
|
|
rs764181893 CA6847160 |
105 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244778022 rs866133496 |
106 | G>D | No |
ClinGen Ensembl |
|
|
rs1419688241 CA387050351 |
108 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751828060 CA6847161 |
109 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1429754355 CA387050363 |
109 | H>R | No |
ClinGen gnomAD |
|
|
CA244778052 rs539288713 |
110 | L>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs539288713 CA387050368 |
110 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA387050384 rs1475067577 |
111 | I>T | No |
ClinGen gnomAD |
|
|
CA387050393 rs1565931372 |
112 | H>P | No |
ClinGen Ensembl |
|
|
CA6847163 rs767875008 |
114 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA387050423 rs1468032148 |
115 | S>P | No |
ClinGen gnomAD |
|
|
rs377081405 CA6847164 |
118 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387050477 rs1353227739 |
119 | L>P | No |
ClinGen gnomAD |
|
|
rs75373025 CA6847165 |
121 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778374436 CA6847166 |
122 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA387050618 rs1157036156 |
124 | F>L | No |
ClinGen gnomAD |
|
|
COSM3792293 rs1420316614 CA387050652 |
126 | Q>R | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs919548559 CA244779089 |
129 | N>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 129 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1404757658 CA387050710 |
130 | D>G | No |
ClinGen gnomAD |
|
|
rs745774687 CA6847175 |
130 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745774687 CA387050706 |
130 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6847176 rs769888216 |
131 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs374115933 CA6847178 |
133 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6847177 rs775527571 |
133 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774369312 CA6847180 |
134 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6847179 rs375356431 |
134 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA387050789 rs1555221972 |
136 | Y>* | No |
ClinGen Ensembl |
|
|
rs1216359269 CA387050780 |
136 | Y>N | No |
ClinGen gnomAD |
|
|
rs866889590 CA244779137 |
142 | E>* | No |
ClinGen Ensembl |
|
|
CA6847181 rs540651987 |
143 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs868427840 CA244779160 |
143 | K>N | No |
ClinGen Ensembl |
|
|
CA387050896 rs1221608471 |
144 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA387050888 rs1489826976 |
144 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1453112527 CA387050909 |
145 | G>D | No |
ClinGen gnomAD |
|
|
rs558905859 CA6847183 |
147 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs947673621 CA244779201 |
148 | E>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 148 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184211639 CA387051288 |
149 | G>D | No |
ClinGen gnomAD |
|
|
rs1160490525 CA387050956 |
149 | G>S | No |
ClinGen gnomAD |
|
|
CA6847202 rs781099032 |
152 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387051322 rs781099032 |
152 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381167604 CA387051353 |
155 | L>V | No |
ClinGen TOPMed |
|
|
rs1167662017 CA387051367 |
156 | L>R | No |
ClinGen gnomAD |
|
|
rs185354191 CA6847204 |
157 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6847205 rs779795415 |
158 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 162 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1048741995 CA244788592 |
163 | C>G | No |
ClinGen TOPMed |
|
|
CA6847207 rs768614723 |
163 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA244788593 rs376431802 |
164 | I>V | No |
ClinGen ESP gnomAD |
|
|
rs536299294 CA6847209 |
166 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772321810 CA6847211 |
168 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772321810 CA6847210 |
168 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6847212 rs760982854 |
169 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs766782265 CA6847213 |
170 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387051528 rs1190796241 |
171 | K>E | No |
ClinGen TOPMed |
|
|
CA6847214 rs776939706 |
175 | A>T | No |
ClinGen ExAC |
|
|
rs1472640510 CA387051881 |
175 | A>V | No |
ClinGen TOPMed |
|
|
rs867893340 CA244790093 |
177 | E>* | No |
ClinGen Ensembl |
|
|
CA387051903 rs1197663903 |
177 | E>G | No |
ClinGen gnomAD |
|
|
CA387051937 rs1432290963 |
180 | D>N | No |
ClinGen gnomAD |
|
|
CA387051938 rs1432290963 |
180 | D>Y | No |
ClinGen gnomAD |
|
|
CA387051953 rs1218387406 |
181 | F>I | No |
ClinGen gnomAD |
|
|
CA387051965 rs1318292216 |
181 | F>L | No |
ClinGen gnomAD |
|
|
rs1284554601 CA387051959 |
181 | F>Y | No |
ClinGen gnomAD |
|
|
CA244790103 rs370657369 |
182 | S>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA387051975 rs370657369 |
182 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1176321677 CA387051969 |
182 | S>R | No |
ClinGen gnomAD |
|
|
rs761427660 CA244790104 |
182 | S>R | No |
ClinGen gnomAD |
|
|
rs778828775 CA6847227 |
183 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968385497 CA387051990 |
183 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA387051988 rs968385497 |
183 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA244790115 rs968385497 |
183 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387051983 rs778828775 |
183 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271628045 CA387051998 |
184 | A>E | No |
ClinGen gnomAD |
|
|
rs1200826446 CA387051992 |
184 | A>T | No |
ClinGen gnomAD |
|
|
CA387052022 rs1361033131 |
186 | K>E | No |
ClinGen gnomAD |
|
|
CA387052097 rs1295529415 |
187 | L>F | No |
ClinGen gnomAD |
|
|
CA387052100 rs1196061323 |
188 | Q>* | No |
ClinGen TOPMed |
|
|
CA387052106 rs1239656405 |
189 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 194 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6847251 rs758410427 |
196 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA387052188 rs1322715494 |
197 | S>P | No |
ClinGen gnomAD |
|
|
rs61751320 CA6847252 |
198 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs901431253 CA244790766 |
198 | T>I | No |
ClinGen TOPMed |
|
|
CA387052216 rs1177597087 |
199 | E>G | No |
ClinGen gnomAD |
|
|
rs1456198403 CA387052210 |
199 | E>K | No |
ClinGen gnomAD |
|
|
rs1161394850 CA387052261 |
201 | Y>C | No |
ClinGen gnomAD |
|
|
CA387052273 rs1412919323 |
202 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6847254 rs747207034 |
203 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs200109083 CA6847256 |
204 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746191568 CA6847257 |
204 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs770065963 CA387052304 |
205 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770065963 CA6847258 |
205 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231430958 CA387052334 |
207 | L>F | No |
ClinGen TOPMed |
|
|
rs371618629 CA6847260 |
208 | S>G | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA387052355 rs1380473894 |
209 | L>I | No |
ClinGen gnomAD |
|
|
rs772898355 CA6847262 |
211 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs760213772 CA6847263 |
212 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6847265 rs753456353 |
213 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA387052424 rs1370326380 |
214 | L>V | No |
ClinGen TOPMed |
|
|
CA6847266 rs759320142 |
215 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA244790861 rs376295165 |
218 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6847267 rs376295165 |
218 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387052515 rs1593501090 |
219 | P>S | No |
ClinGen Ensembl |
|
|
rs752631319 CA6847268 |
220 | V>M | No |
ClinGen ExAC |
|
|
CA387052557 rs1473113505 |
221 | I>M | No |
ClinGen gnomAD |
|
|
rs1183514803 CA387052579 |
223 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs749792196 CA6847279 |
224 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA387053073 rs1177049362 |
225 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6847280 rs769326636 |
225 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1011749393 CA244792191 |
226 | G>S | No |
ClinGen TOPMed |
|
|
CA6847282 rs746479828 |
228 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6847283 rs376367155 |
229 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387053156 rs1296900756 |
231 | S>L | No |
ClinGen gnomAD |
|
|
CA6847285 rs759182891 |
233 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs765007039 CA6847286 |
235 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6847288 rs761841925 |
236 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761841925 CA6847287 |
236 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761841925 CA244792243 |
236 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565940532 CA387053236 |
237 | S>C | No |
ClinGen Ensembl |
|
|
CA387053249 rs1329698794 |
238 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs374749286 CA6847290 |
239 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387053267 rs1388499987 |
240 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs757294714 CA6847291 |
240 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6847292 rs767559140 |
241 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756452873 CA6847294 |
244 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780536530 CA6847295 |
245 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs7968222 CA6847296 VAR_051082 |
245 | K>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1449647355 CA387053315 |
245 | K>R | No |
ClinGen gnomAD |
|
|
rs372499507 CA6847297 |
246 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1479060052 CA387053326 |
247 | L>I | No |
ClinGen gnomAD |
|
|
rs779505717 CA6847298 |
248 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6847299 rs748610461 |
249 | D>N | No |
ClinGen ExAC TOPMed |
|
|
rs1296373468 CA387053372 |
250 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 252 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773887656 CA6847317 |
255 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA387053451 rs1209818822 |
256 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs369781146 CA6847319 |
258 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387053466 rs1446803863 |
258 | K>R | No |
ClinGen gnomAD |
|
|
CA6847320 rs778371644 |
260 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769304526 CA6847324 |
262 | I>K | No |
ClinGen ExAC |
|
|
CA6847323 rs769304526 |
262 | I>R | No |
ClinGen ExAC |
|
| TCGA novel | 263 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265869805 CA387053502 |
264 | N>D | No |
ClinGen gnomAD |
|
|
rs1336670374 CA387053507 |
264 | N>K | No |
ClinGen gnomAD |
|
|
CA387053506 rs1231951575 |
264 | N>S | No |
ClinGen TOPMed |
|
|
rs779611530 CA6847325 |
266 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779611530 CA387053515 |
266 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs889132086 CA244792635 |
268 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs749006379 CA6847326 |
268 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs889132086 CA387053527 |
268 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs768424953 CA6847327 |
270 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1565941176 CA387053550 |
272 | D>N | No |
ClinGen Ensembl |
|
|
rs748916551 CA6847346 |
273 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6847348 rs778659714 |
274 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1284020568 CA387053611 |
276 | S>N | No |
ClinGen TOPMed |
|
|
rs747849684 CA6847350 |
285 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1010322126 CA244793577 |
286 | V>G | No |
ClinGen Ensembl |
|
|
CA6847352 rs200333356 |
287 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560023303 CA6847351 |
287 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA6847353 rs760763301 |
289 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA387053784 rs1216492034 |
290 | P>R | No |
ClinGen gnomAD |
|
|
CA6847355 rs776903535 |
291 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1000056624 CA244793636 |
293 | H>Y | No |
ClinGen Ensembl |
|
|
rs765324143 CA6847357 |
294 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387053831 rs1454299996 |
295 | E>G | No |
ClinGen gnomAD |
|
|
CA6847358 rs752974228 |
295 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs958632192 CA244793657 |
296 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6847360 rs764583850 |
298 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6847361 rs752046776 |
298 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA387053863 rs764583850 |
298 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387053881 rs1419571576 |
300 | T>A | No |
ClinGen TOPMed |
|
|
rs757808952 CA387053884 |
300 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA6847362 rs757808952 |
300 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1432564137 CA387053907 |
302 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA387053914 rs1292022927 |
303 | A>T | No |
ClinGen gnomAD |
|
|
CA6847365 rs754539479 |
303 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA387053932 rs1305782164 |
304 | D>V | No |
ClinGen gnomAD |
|
|
CA6847368 rs191922047 |
305 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA387053944 rs1339405745 |
305 | S>F | No |
ClinGen gnomAD |
|
|
CA6847370 rs561399189 |
306 | P>T | No |
ClinGen 1000Genomes ExAC |
|
|
rs777771975 CA6847371 |
308 | S>L | No |
ClinGen ExAC gnomAD |
|
| rs1219776941 | 310 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387053989 rs1200366382 |
310 | T>A | No |
ClinGen TOPMed |
|
|
CA6847373 rs746924564 |
310 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254288671 CA387054050 |
311 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA387054075 rs1465273348 |
313 | G>E | No |
ClinGen gnomAD |
|
|
CA387054080 rs1244614892 |
314 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 316 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758123001 CA6847390 |
316 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61751321 CA6847391 |
317 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746765192 CA6847392 |
320 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380363212 CA387054187 |
324 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA244794081 rs983507804 |
324 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs116477881 CA6847393 |
326 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs116477881 CA6847394 |
326 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387054208 rs116477881 |
326 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs950254394 CA244794111 |
327 | N>I | No |
ClinGen TOPMed |
|
|
rs769747766 CA6847397 |
329 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA387054892 rs1487803789 |
331 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1271702373 CA387054906 |
331 | K>N | No |
ClinGen TOPMed |
|
|
CA387054929 rs1555224020 |
332 | N>I | No |
ClinGen Ensembl |
|
|
rs1194180353 CA387054942 |
333 | L>V | No |
ClinGen gnomAD |
|
|
CA387054966 rs1477097970 |
334 | M>I | No |
ClinGen gnomAD |
|
|
CA6847411 rs368574278 |
335 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387055005 rs1343509135 |
337 | S>L | No |
ClinGen TOPMed |
|
|
CA387055029 rs1395740357 |
340 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 340 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387055046 rs1555224041 |
341 | M>R | No |
ClinGen Ensembl |
|
|
CA244795473 rs1007356503 |
341 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 343 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278101754 CA387055082 |
343 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6847413 rs181801270 |
344 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA244795478 rs1006344631 |
347 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
CA387055134 rs1593515353 |
347 | L>F | No |
ClinGen Ensembl |
|
|
rs1593515366 CA387055139 |
348 | E>* | No |
ClinGen Ensembl |
|
|
CA387055136 rs1593515366 |
348 | E>K | No |
ClinGen Ensembl |
|
|
rs1318601283 CA387055155 |
349 | V>A | No |
ClinGen gnomAD |
|
|
CA387055149 rs753662975 |
349 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753662975 CA6847414 |
349 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6847415 rs147259173 |
350 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1302134473 CA387055180 |
351 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 352 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6847416 rs200406704 |
353 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387055210 rs1236416401 |
354 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA387055226 rs1283731999 |
355 | L>P | No |
ClinGen gnomAD |
|
|
CA6847417 rs779887028 |
358 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768736303 CA6847419 |
359 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6847418 rs140826574 |
359 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6847420 rs779041092 |
362 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6847431 rs761603840 |
363 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs767388448 CA6847433 |
364 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs372604813 CA244796647 |
365 | I>L | No |
ClinGen gnomAD |
|
|
rs372604813 CA387055512 |
365 | I>V | No |
ClinGen gnomAD |
|
|
rs369157449 CA6847435 |
366 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375046231 CA244796653 |
366 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA387055521 rs375046231 |
366 | Y>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs779982973 CA6847436 |
368 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs753723681 CA6847437 |
370 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387055559 rs1217016681 |
372 | C>F | No |
ClinGen gnomAD |
|
|
CA387055560 rs1169400295 |
372 | C>W | No |
ClinGen TOPMed |
|
|
rs1250894440 CA387055563 |
373 | K>E | No |
ClinGen gnomAD |
|
|
CA244796692 rs760633250 |
374 | N>D | No |
ClinGen gnomAD |
|
|
CA387055576 rs1430525563 |
374 | N>K | No |
ClinGen TOPMed |
|
|
CA387055571 rs760633250 |
374 | N>Y | No |
ClinGen gnomAD |
|
|
rs1254416752 CA387055584 |
375 | D>E | No |
ClinGen TOPMed |
|
|
CA387055612 rs1593519713 |
378 | L>* | No |
ClinGen Ensembl |
|
|
CA387055637 rs1184422436 |
381 | D>E | No |
ClinGen gnomAD |
|
|
rs1260549325 CA387055642 |
382 | S>* | No |
ClinGen gnomAD |
|
|
rs542873141 CA244796775 |
385 | V>L | No |
ClinGen Ensembl |
|
|
CA387055671 rs1555224375 |
387 | V>L | No |
ClinGen Ensembl |
|
|
rs757640784 CA6847462 |
388 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6847463 rs373771355 |
388 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757640784 CA387055676 |
388 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6847464 rs376756586 |
389 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387055682 rs1377058661 |
389 | R>T | No |
ClinGen gnomAD |
|
|
rs1417576210 CA387055686 |
390 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6847465 rs770377591 |
391 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6847466 rs776174066 |
391 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244796816 rs549673609 |
392 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6847467 rs549673609 |
392 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 393 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6847469 rs200040167 |
394 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1283018348 CA387055715 |
395 | L>V | No |
ClinGen gnomAD |
|
|
CA6847490 rs777187101 |
401 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA387055774 rs1408450834 |
402 | R>Q | No |
ClinGen gnomAD |
|
|
rs770439701 CA6847492 |
402 | R>W | No |
ClinGen ExAC |
|
|
rs759257455 CA6847494 |
404 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 406 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207530401 CA387055807 |
407 | H>Y | No |
ClinGen TOPMed |
|
|
rs769585652 CA6847495 |
410 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA387055872 rs1328074046 |
416 | A>T | No |
ClinGen gnomAD |
|
|
CA6847497 rs775406246 |
416 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1299182365 CA387055877 |
417 | I>V | No |
ClinGen gnomAD |
|
|
CA244797024 rs569164416 |
421 | L>P | No |
ClinGen gnomAD |
|
|
CA6847499 rs764214072 |
422 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6847520 rs375661591 |
425 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1173811554 CA387056289 |
426 | V>D | No |
ClinGen TOPMed |
|
|
CA387056314 rs1374877303 |
428 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1246763982 CA387056336 |
429 | V>G | No |
ClinGen TOPMed |
|
|
CA387056347 rs1190357240 |
430 | K>R | No |
ClinGen gnomAD |
|
|
rs766736485 CA244801719 |
431 | S>L | No |
ClinGen Ensembl |
|
|
rs766826642 CA6847523 |
434 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA244801724 rs752360966 |
436 | E>Q | No |
ClinGen Ensembl |
|
|
rs755398971 CA6847525 |
437 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 438 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA244801761 rs992880450 |
439 | A>E | No |
ClinGen TOPMed |
|
|
CA6847526 rs371290628 |
439 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387056450 rs371290628 |
439 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6847527 rs752704050 |
442 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA387056488 rs1376461568 |
442 | S>T | No |
ClinGen gnomAD |
|
|
CA244801788 rs752704050 |
442 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1324365861 CA387056517 |
444 | D>E | No |
ClinGen gnomAD |
|
|
rs756742187 CA6847528 |
444 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6847529 rs780724401 |
446 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA387056539 rs1270327866 |
446 | S>T | No |
ClinGen gnomAD |
|
|
CA244801806 COSM1359611 rs915581973 |
448 | Q>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6847532 rs78912868 |
449 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745501474 CA6847531 |
449 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6847535 rs748970408 |
450 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6847534 rs748970408 |
450 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565952795 CA387056607 COSM202651 |
451 | W>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs774142753 CA6847537 |
454 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs772247665 CA6847538 |
454 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs774142753 CA6847536 |
454 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1452597981 CA387056658 |
455 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6847539 CA387056654 rs773473759 |
455 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387056664 rs1396170347 |
456 | D>G | No |
ClinGen gnomAD |
|
|
rs766666311 CA6847541 |
457 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399758166 CA387056675 |
458 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759759286 CA6847543 |
458 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6847544 rs765687281 |
459 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 459 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA244801916 rs1028287113 |
462 | L>P | No |
ClinGen TOPMed |
|
|
rs767959224 CA6847547 |
463 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs559913481 CA6847546 |
463 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6847545 rs753135608 |
463 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749897657 CA6847548 |
464 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6847549 rs755628135 |
464 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387056712 rs749897657 |
464 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779516600 CA6847550 |
466 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 469 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA244802133 rs569051769 |
474 | Y>C | No |
ClinGen Ensembl |
|
|
rs367561262 CA6847570 |
475 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1438866812 CA387056873 |
476 | L>P | No |
ClinGen gnomAD |
|
|
rs371401714 CA244802135 |
477 | K>R | No |
ClinGen ESP TOPMed |
|
|
CA6847572 rs778452685 |
478 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387056885 rs754707346 |
478 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6847571 rs754707346 |
478 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6847573 rs376805094 |
480 | W>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1458952340 CA387056930 |
481 | I>T | No |
ClinGen gnomAD |
|
|
rs758271309 CA6847574 |
481 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1307933557 CA387056948 |
483 | Y>H | No |
ClinGen gnomAD |
|
|
rs777792491 CA6847575 |
484 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs369856440 CA6847576 |
486 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA244802205 rs374194679 |
489 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs770907680 CA6847578 |
491 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387057048 rs770907680 |
491 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244802212 rs941527026 |
493 | A>V | No |
ClinGen Ensembl |
|
|
rs745960814 CA387057114 |
496 | R>K | No |
ClinGen ExAC TOPMed |
|
|
rs745960814 CA6847581 |
496 | R>T | No |
ClinGen ExAC TOPMed |
|
|
CA6847608 rs377551099 |
500 | K>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs542034682 CA6847609 |
500 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 502 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387057586 rs1453702481 |
503 | K>N | No |
ClinGen gnomAD |
|
|
rs561071987 CA6847610 |
503 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6847611 rs774747519 |
504 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6847614 rs762105934 |
511 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762105934 CA6847613 |
511 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773891168 CA6847640 |
515 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6847641 rs761658001 |
517 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1248344259 CA387057701 |
519 | H>R | No |
ClinGen gnomAD |
|
|
rs1165218113 CA387057704 |
520 | A>T | No |
ClinGen TOPMed |
|
|
rs1176457819 CA387057721 |
522 | L>S | No |
ClinGen gnomAD |
|
|
rs750344934 CA6847643 |
523 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162973058 CA387057740 |
525 | F>S | No |
ClinGen gnomAD |
|
|
rs756054860 CA6847646 |
526 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766326903 CA6847648 |
527 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 528 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442098777 CA387057777 |
531 | P>A | No |
ClinGen gnomAD |
|
|
rs755054291 CA6847650 |
531 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6847651 rs779047252 |
533 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1593547799 CA387057809 |
535 | S>I | No |
ClinGen Ensembl |
|
|
rs367877298 CA6847667 |
537 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1240438820 CA387058606 |
538 | S>Y | No |
ClinGen gnomAD |
|
|
rs199501312 COSM75177 CA244813782 |
539 | W>L | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA387058628 rs1277639997 |
540 | I>T | No |
ClinGen TOPMed |
|
|
CA387058624 rs1593564233 |
540 | I>V | No |
ClinGen Ensembl |
|
|
CA387058630 rs1217968446 |
541 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1475095347 CA387058639 |
542 | F>L | No |
ClinGen gnomAD |
|
|
rs892014390 CA244813786 |
543 | L>V | No |
ClinGen TOPMed |
|
|
CA244813816 rs1013211066 |
544 | N>S | No |
ClinGen TOPMed |
|
|
CA387058661 rs1392612380 |
545 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1453097789 CA387058670 |
546 | E>G | No |
ClinGen gnomAD |
|
|
rs759598806 CA6847669 |
551 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244813838 rs759598806 |
551 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414691163 CA387058717 |
552 | I>F | No |
ClinGen gnomAD |
|
|
CA387058725 rs1192084289 |
552 | I>M | No |
ClinGen gnomAD |
|
|
rs548709340 CA244813864 |
553 | F>V | No |
ClinGen Ensembl |
|
| TCGA novel | 554 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387058786 rs1335717127 |
557 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6847673 rs752929321 |
557 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs530543264 CA6847671 |
557 | K>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA387058867 rs1433663750 |
560 | N>T | No |
ClinGen gnomAD |
|
|
CA387058907 rs1320605046 |
562 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6847674 rs778075421 |
563 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6847675 rs751808157 |
565 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA387058966 rs1593564604 |
565 | Q>R | No |
ClinGen Ensembl |
|
|
CA387058987 rs1413832011 |
566 | Y>C | No |
ClinGen TOPMed |
|
|
rs1274033130 CA387058991 |
567 | L>I | No |
ClinGen gnomAD |
|
|
CA387059007 rs1425789085 |
568 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 569 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1212742 CA6847676 rs368001390 |
570 | R>* | NS large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM202653 rs781762358 CA6847677 |
570 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs746448268 CA6847678 |
571 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6847680 rs778336279 |
572 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199781100 CA6847679 |
572 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1162091500 CA387059728 |
573 | A>G | No |
ClinGen gnomAD |
|
|
rs777275248 CA6847702 |
575 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs746731271 CA6847703 |
577 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1326687921 CA387059760 |
577 | S>R | No |
ClinGen gnomAD |
|
|
CA6847704 rs770678455 |
579 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA244814953 rs373899483 |
580 | D>E | No |
ClinGen Ensembl |
|
|
CA6847705 rs776454941 |
581 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA387059799 rs1290399273 |
583 | M>T | No |
ClinGen gnomAD |
|
|
rs1353677041 CA387059820 |
586 | S>N | No |
ClinGen gnomAD |
|
|
CA387059830 rs1244208704 |
587 | L>F | No |
ClinGen gnomAD |
|
|
CA387059834 rs1266088544 |
588 | L>F | No |
ClinGen gnomAD |
|
|
CA6847706 rs759345713 |
588 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs868441714 CA244814973 |
589 | N>S | No |
ClinGen Ensembl |
|
|
rs1444537448 CA387059851 |
591 | M>V | No |
ClinGen TOPMed |
|
|
rs1274386656 CA387059864 |
592 | S>F | No |
ClinGen gnomAD |
|
|
CA387059892 rs1253576104 |
597 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 599 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs192844811 CA6847711 |
606 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA244815057 rs983223300 |
612 | V>L | No |
ClinGen Ensembl |
|
|
CA6847712 rs762176017 |
615 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767875424 CA6847713 |
616 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 622 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256261426 CA387060092 |
624 | A>V | No |
ClinGen gnomAD |
|
|
rs1186629682 CA387060104 |
626 | W>* | No |
ClinGen gnomAD |
|
|
rs887294313 CA244815793 |
628 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs773917767 CA244815794 |
631 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA387060190 rs1372404574 |
634 | L>F | No |
ClinGen TOPMed |
|
|
rs756850308 CA6847721 |
634 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA244815801 rs1017151061 |
637 | T>S | No |
ClinGen gnomAD |
|
|
rs1465740816 CA387060248 |
639 | K>Q | No |
ClinGen gnomAD |
|
|
CA387060292 rs1176476980 |
640 | A>T | No |
ClinGen gnomAD |
|
|
rs1379639385 CA387060305 |
641 | N>D | No |
ClinGen gnomAD |
|
|
rs1379639385 CA387060303 |
641 | N>H | No |
ClinGen gnomAD |
|
|
CA244815894 rs868050398 |
643 | P>S | No |
ClinGen Ensembl |
|
|
CA387060350 rs1389381122 |
644 | E>A | No |
ClinGen gnomAD |
|
|
CA387060375 rs1266791706 |
646 | G>R | No |
ClinGen TOPMed |
|
|
rs773583890 CA6847734 |
648 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs773583890 CA6847735 |
648 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6847736 rs766831404 |
652 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1387749462 CA387060473 |
653 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 654 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1313651215 CA387060499 |
656 | A>T | No |
ClinGen gnomAD |
|
|
CA387060526 rs1226188872 |
658 | K>E | No |
ClinGen gnomAD |
|
|
CA6847739 COSM1212741 rs755557444 |
659 | T>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM936253 rs765751440 CA6847740 |
661 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6847743 rs756760642 |
662 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387060581 rs1488104365 |
662 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6847744 rs745602896 |
664 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779952017 CA6847746 |
665 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs755837728 CA6847745 |
665 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1282030489 CA387060651 |
668 | W>* | No |
ClinGen TOPMed |
|
|
CA6847749 rs774436499 |
670 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1458857800 CA387060677 |
670 | W>* | No |
ClinGen gnomAD |
|
|
CA387060718 rs1405059681 |
673 | L>F | No |
ClinGen TOPMed |
|
|
rs1291560513 CA387060858 |
676 | Y>H | No |
ClinGen TOPMed |
|
|
rs754835336 CA6847771 |
681 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs374600519 CA244817679 |
682 | V>E | No |
ClinGen Ensembl |
|
|
rs778983133 CA6847772 |
682 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 686 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387060991 rs1483594859 |
689 | V>I | No |
ClinGen gnomAD |
|
|
rs1565971414 CA387061003 |
690 | N>D | No |
ClinGen Ensembl |
|
|
CA6847773 rs748161276 |
692 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA387061043 rs1388909186 |
693 | R>* | No |
ClinGen gnomAD |
|
|
rs772245787 CA387061047 |
693 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772245787 CA6847774 |
693 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs376075644 CA6847775 |
694 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376075644 CA387061051 |
694 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763502647 CA6847777 |
697 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776720381 CA6847778 |
698 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs369843247 CA6847779 |
699 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770212695 CA6847781 |
701 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387061137 rs770212695 |
701 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775948010 CA6847782 |
701 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6847783 rs763503709 |
703 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6847784 rs763503709 |
703 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760109261 CA6847786 |
703 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs749909411 CA6847785 |
703 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753494900 CA6847788 |
707 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555228942 CA387061223 |
708 | L>F | No |
ClinGen Ensembl |
|
|
rs778891147 CA6847791 |
709 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs758361544 CA6847793 |
713 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759309380 CA6847807 |
716 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164965207 CA387054630 |
719 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA387054644 rs191772462 |
720 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6847808 rs191772462 |
720 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1188644 CA6847809 rs534237685 |
721 | F>Y | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6847810 rs201331566 |
722 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201331566 CA244752373 |
722 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322653956 CA387054667 COSM936255 |
722 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM307473 rs751507258 CA6847812 |
723 | M>I | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs899016563 CA387054716 |
725 | D>G | No |
ClinGen Ensembl |
|
|
rs899016563 CA244752378 |
725 | D>V | No |
ClinGen Ensembl |
|
|
CA6847813 rs374239725 |
726 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6847814 rs759849356 |
727 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377204060 CA244752380 |
729 | A>S | No |
ClinGen ESP TOPMed |
|
|
rs377204060 CA387054752 |
729 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs1396604089 CA387054756 |
729 | A>V | No |
ClinGen TOPMed |
|
|
rs1593578889 CA387054761 |
730 | P>R | No |
ClinGen Ensembl |
|
|
rs745972828 CA6847815 |
730 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA387054791 rs1291057638 |
732 | L>R | No |
ClinGen gnomAD |
|
|
rs1249224945 CA387054875 |
738 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
VAR_051083 rs17883249 CA6847817 COSM3688003 CA387054888 |
738 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP |
|
CA6847816 rs533682868 |
738 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 739 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387054939 rs1182349957 |
740 | F>L | No |
ClinGen gnomAD |
|
|
rs374356823 CA6847818 |
741 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6847819 rs768960218 |
743 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1162534401 CA387054997 |
745 | M>V | No |
ClinGen gnomAD |
|
|
rs367576553 CA244752383 |
746 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6847820 rs367576553 |
746 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6847821 rs61751322 |
748 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770450706 CA6847822 |
751 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs776231796 CA6847823 |
751 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA387055111 rs1410662606 |
752 | E>D | No |
ClinGen gnomAD |
|
|
CA6847826 rs775291338 |
757 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1362186537 CA387055227 |
761 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs935408895 CA244752574 |
762 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1555229328 CA387055319 |
765 | N>S | No |
ClinGen Ensembl |
|
|
CA6847848 rs773980969 |
767 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA387055349 COSM458240 rs1172234996 |
769 | S>* | cervix [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs767384290 CA6847851 |
779 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA6847852 rs750419356 |
781 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA387055441 rs1320421692 |
783 | A>P | No |
ClinGen gnomAD |
|
|
rs1593581655 CA387055452 |
784 | M>I | No |
ClinGen Ensembl |
|
|
rs1384323861 CA387055460 |
785 | A>V | No |
ClinGen gnomAD |
|
|
rs760741394 CA6847853 |
786 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA387055470 rs1329062508 |
787 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1371962771 CA387055473 |
788 | A>T | No |
ClinGen TOPMed |
|
|
rs766486969 CA6847854 |
788 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 792 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201148456 CA6847856 |
793 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1027639757 CA387055961 |
794 | D>E | No |
ClinGen TOPMed |
|
|
rs752933234 CA6847858 |
794 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA387055956 rs1267474684 |
794 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753818045 CA6847875 |
796 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6847874 rs766322919 |
796 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6847876 rs199954329 |
798 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA244752831 rs867052971 |
799 | A>V | No |
ClinGen Ensembl |
|
|
rs1163233829 CA387056006 |
800 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1172572678 CA387056014 |
801 | L>F | No |
ClinGen TOPMed |
|
|
rs753021299 CA387056021 |
802 | K>R | No |
ClinGen ExAC TOPMed |
|
|
rs753021299 CA6847879 |
802 | K>T | No |
ClinGen ExAC TOPMed |
|
|
rs375872082 CA6847880 |
803 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387056038 rs1367117629 |
804 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs752088372 CA6847882 |
804 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA387056031 rs1426875939 |
804 | M>V | No |
ClinGen TOPMed |
|
|
rs757801099 CA6847883 |
806 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1306882053 CA387056052 |
807 | A>T | No |
ClinGen gnomAD |
|
|
rs1373359866 CA387056064 |
809 | V>I | No |
ClinGen gnomAD |
|
|
rs151068294 CA6847885 |
810 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1242039365 CA387056085 |
812 | S>G | No |
ClinGen TOPMed |
|
|
rs754578533 CA6847886 |
812 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242039365 CA387056084 |
812 | S>R | No |
ClinGen TOPMed |
|
|
rs1204630767 CA387056098 |
814 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA387056097 rs1204630767 |
814 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747877355 CA6847888 |
815 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387056111 rs1279354795 |
816 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1414770400 CA387056108 |
816 | E>K | No |
ClinGen gnomAD |
|
|
rs1180163965 CA387056129 |
819 | V>M | No |
ClinGen gnomAD |
|
|
CA387056145 rs1342812312 |
821 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs372506657 CA387056161 |
823 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372506657 CA6847890 |
823 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376521489 CA6847891 |
824 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1593584867 CA387056181 |
826 | D>Y | No |
ClinGen Ensembl |
|
|
rs746745688 CA6847910 |
831 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 831 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 831 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 832 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164918387 CA387056248 |
834 | Q>K | No |
ClinGen TOPMed |
|
|
CA387056296 rs1342873730 |
837 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1593585440 CA387056294 |
837 | Y>F | No |
ClinGen Ensembl |
|
|
CA244752875 rs1007792770 |
838 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA387056355 rs1429831632 |
841 | E>D | No |
ClinGen gnomAD |
|
|
CA6847911 rs200445300 |
842 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1565975016 CA387056393 |
843 | K>N | No |
ClinGen Ensembl |
|
|
rs776428677 CA6847913 |
843 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1278025893 CA387056405 |
844 | K>R | No |
ClinGen gnomAD |
|
|
CA387056417 rs1324317872 |
845 | L>F | No |
ClinGen gnomAD |
|
|
rs868854352 CA244752878 |
846 | L>I | No |
ClinGen Ensembl |
|
|
rs745858002 CA6847914 |
847 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387056440 rs769739544 |
847 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769739544 COSM3811325 CA6847915 |
847 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs377553046 CA6847916 |
848 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387056462 rs1273257174 |
849 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6847918 rs764354490 |
851 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763131992 CA6847917 |
851 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387056499 rs1593585670 |
852 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 853 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774771775 CA6847919 |
854 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1177942781 CA387056536 |
855 | N>Y | No |
ClinGen gnomAD |
|
|
rs762268029 CA6847920 |
856 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs530518298 CA6847921 |
858 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1390645890 CA387056586 |
858 | N>K | No |
ClinGen TOPMed |
|
|
rs767486222 CA6847922 |
859 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555229794 CA387056600 |
859 | K>N | No |
ClinGen Ensembl |
|
|
CA244752886 rs959739552 |
861 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA244752888 rs202112178 |
862 | M>I | No |
ClinGen Ensembl |
|
|
rs1439789532 CA387056770 |
864 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs766849327 CA387056786 |
865 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6847945 rs766849327 |
865 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs202085825 CA6847946 |
866 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762442542 CA6847947 |
867 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6847948 rs530141366 |
868 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6847949 rs751189646 |
870 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs756883663 CA6847951 |
870 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387056883 rs1310759654 |
871 | Q>H | No |
ClinGen TOPMed |
|
|
rs964844484 CA387056906 |
873 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs964844484 CA244753175 |
873 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6847953 rs183574130 |
875 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6847956 rs749282000 |
878 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs749282000 CA6847957 |
878 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6847958 rs779089672 |
879 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288762934 CA387057006 |
881 | L>V | No |
ClinGen gnomAD |
|
|
rs534177397 CA6847961 |
883 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6847962 rs773316799 |
885 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs928965525 CA244753178 |
885 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs761083498 CA6847963 |
886 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387057110 rs1370437997 |
888 | M>T | No |
ClinGen gnomAD |
|
|
CA6847965 rs777090601 |
888 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387057138 rs917175141 |
890 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 890 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA244753183 rs917175141 |
890 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs997827844 CA244753185 |
891 | D>N | No |
ClinGen TOPMed |
|
|
rs949888288 CA244753187 |
891 | D>V | No |
ClinGen TOPMed |
|
|
CA6847966 rs559023746 |
892 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1226602792 CA387057158 |
893 | E>D | No |
ClinGen gnomAD |
|
|
CA244753191 rs751306591 |
894 | I>T | No |
ClinGen Ensembl |
|
|
rs113598460 CA244753195 |
895 | Y>C | No |
ClinGen Ensembl |
|
|
CA244753197 rs113598460 |
895 | Y>F | No |
ClinGen Ensembl |
|
|
rs1338282322 CA387057191 |
898 | R>S | No |
ClinGen gnomAD |
|
|
CA387057199 rs1287728119 |
900 | I>L | No |
ClinGen TOPMed |
|
|
rs1195879620 CA387057219 |
903 | I>L | No |
ClinGen gnomAD |
|
|
CA244753203 rs1044649586 |
904 | D>E | No |
ClinGen TOPMed |
|
|
rs761243612 CA6847969 |
905 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs905928288 CA244753206 |
906 | E>Q | No |
ClinGen TOPMed |
|
|
CA387057268 rs776931208 |
908 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs201253327 CA6847984 |
908 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6847985 rs776931208 |
908 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA387057278 rs1203164932 |
910 | D>N | No |
ClinGen gnomAD |
|
|
rs1171300875 CA387057289 |
911 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 912 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260768321 CA387057298 |
912 | L>R | No |
ClinGen gnomAD |
|
|
rs770218433 CA6847987 |
916 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6847988 rs201402164 |
919 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387057343 rs1480165906 |
920 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387057345 rs1480165906 |
920 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1262732018 CA387057365 |
923 | A>S | No |
ClinGen TOPMed |
|
|
rs772902325 CA6847991 |
926 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1288716467 CA387057404 |
929 | R>G | No |
ClinGen gnomAD |
|
|
rs1217683300 CA387057418 |
931 | I>V | No |
ClinGen TOPMed |
|
|
rs927234865 CA244753381 |
932 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6847993 rs527750148 |
932 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA244753384 rs982830899 |
933 | W>C | No |
ClinGen Ensembl |
|
|
rs371376144 CA6847994 |
935 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754831260 COSM1212737 CA6847996 |
935 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6847997 rs765249849 |
936 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283294877 CA387057450 |
937 | A>T | No |
ClinGen gnomAD |
|
|
rs921076390 CA244753397 |
939 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 939 | Q>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6848000 rs777763189 |
941 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6848001 rs552563596 |
942 | P>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs1206628053 CA387057493 |
943 | D>G | No |
ClinGen gnomAD |
|
|
CA6848002 rs757428476 |
943 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432506693 CA387057499 |
944 | H>D | No |
ClinGen TOPMed |
|
|
rs781396154 CA6848003 |
945 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1357097962 CA387057528 |
947 | E>Q | No |
ClinGen TOPMed |
|
|
CA387057822 rs1394188711 |
948 | G>C | No |
ClinGen gnomAD |
|
|
CA244754234 rs972400567 |
948 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA387057820 rs1394188711 |
948 | G>S | No |
ClinGen gnomAD |
|
|
rs972400567 CA387057823 |
948 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1191251594 CA387057826 |
949 | K>E | No |
ClinGen TOPMed |
|
|
rs780232822 CA6848025 |
951 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA6848026 rs749697542 |
952 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA6848028 rs768980416 |
955 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA387057875 rs1214228825 |
956 | A>S | No |
ClinGen TOPMed |
|
|
rs199590387 CA6848029 |
956 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6848032 rs539670629 |
960 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769507476 CA6848034 |
962 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 962 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759307322 CA6848033 |
962 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775106528 CA6848035 |
966 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs762808770 CA6848036 |
967 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387057962 rs1369869155 |
969 | I>M | No |
ClinGen TOPMed |
|
|
rs1565980045 CA387057960 |
969 | I>T | No |
ClinGen Ensembl |
|
|
CA387057957 rs1251960122 |
969 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 970 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763878615 CA387057966 |
970 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs763878615 CA6848037 |
970 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs200477285 CA6848038 |
971 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387057972 rs1452894348 |
971 | K>T | No |
ClinGen TOPMed |
|
|
rs748702894 CA6848048 |
972 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1229730562 CA387058016 |
976 | K>* | No |
ClinGen TOPMed |
|
|
rs201575472 CA387058040 |
979 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6848049 rs201575472 |
979 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA387058063 rs1185542643 |
982 | E>* | No |
ClinGen gnomAD |
|
|
CA387058075 CA387058076 rs1173558821 |
983 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA387058073 rs370526642 |
983 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1419743292 CA387058070 |
983 | M>L | No |
ClinGen gnomAD |
|
|
CA6848051 rs370526642 |
983 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6848050 rs370526642 |
983 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 987 | F>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA244754459 rs866733759 |
989 | E>* | No |
ClinGen Ensembl |
|
|
rs1428523014 CA387058137 |
989 | E>D | No |
ClinGen gnomAD |
|
|
rs769264395 CA6848052 |
990 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA387058155 rs1335998327 |
991 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 995 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765680842 CA6848068 |
996 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA387058760 rs1159487753 |
997 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 998 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6848069 rs753130990 |
1000 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA6848070 rs758932288 |
1001 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1302687696 CA387058890 |
1004 | E>A | No |
ClinGen gnomAD |
|
|
CA244755118 rs927131220 |
1006 | Y>D | No |
ClinGen Ensembl |
|
|
CA244755120 rs772077758 |
1007 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs568900680 CA6848071 |
1008 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387059030 rs1381415407 |
1009 | S>T | No |
ClinGen gnomAD |
|
|
rs1278321142 CA387059043 |
1010 | S>T | No |
ClinGen gnomAD |
|
|
rs201981485 CA6848073 |
1012 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779543176 CA6848074 |
1014 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1015 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6848075 rs536586893 |
1016 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6848077 rs370881274 |
1016 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6848076 rs370881274 |
1016 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387059210 rs1267603546 |
1020 | I>V | No |
ClinGen gnomAD |
|
|
rs1396301441 CA387059225 |
1021 | K>E | No |
ClinGen TOPMed |
|
|
CA6848078 rs747945385 |
1022 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6848079 rs771941717 |
1022 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1024 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6848081 rs760669670 |
1024 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1177631943 CA387059306 |
1026 | A>V | No |
ClinGen gnomAD |
|
|
rs374190938 CA6848082 |
1027 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA244755157 rs917214679 |
1028 | A>T | No |
ClinGen gnomAD |
|
|
CA6848084 rs759752691 |
1028 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469058050 CA387059348 |
1033 | G>R | No |
ClinGen TOPMed |
|
|
rs758845238 CA6848088 |
1035 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764683680 CA6848089 |
1036 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs201046154 CA6848090 |
1037 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs190859355 CA6848092 |
1039 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775609964 CA244755170 |
1041 | A>S | No |
ClinGen Ensembl |
|
|
rs748782051 CA6848093 |
1043 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754594527 CA6848094 |
1044 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225329039 CA387059434 |
1046 | P>L | No |
ClinGen TOPMed |
|
|
rs1437220161 CA387059436 |
1047 | S>G | No |
ClinGen gnomAD |
|
|
CA387059445 rs1186462644 |
1048 | M>L | No |
ClinGen gnomAD |
|
|
rs1302400186 CA387059476 |
1052 | L>Q | No |
ClinGen TOPMed |
|
|
rs1565983599 CA387059487 |
1054 | R>G | No |
ClinGen Ensembl |
|
|
rs1442568658 CA387059495 |
1055 | Q>* | No |
ClinGen gnomAD |
|
|
TCGA novel rs1182691141 CA387059500 |
1055 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA387059502 rs374767073 |
1056 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA244755184 rs374767073 |
1056 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1473895864 CA387059506 |
1056 | A>V | No |
ClinGen gnomAD |
|
|
CA387059516 rs1160739010 |
1058 | A>V | No |
ClinGen TOPMed |
|
|
CA387059529 rs1395834717 |
1060 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6848097 rs148237388 |
1061 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6848098 rs777652354 |
1063 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA244755192 rs944046804 |
1064 | Q>K | No |
ClinGen Ensembl |
|
|
rs61750348 CA6848100 |
1065 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387059572 rs1565983769 |
1067 | E>Q | No |
ClinGen Ensembl |
|
|
rs759537334 CA6848102 |
1068 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA387059591 rs1246509736 |
1069 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA387059600 rs1267943240 |
1071 | T>I | No |
ClinGen gnomAD |
|
|
CA6848104 rs371793371 |
1080 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6848106 rs201517227 |
1081 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387059676 rs1256581043 |
1082 | T>K | No |
ClinGen gnomAD |
|
|
rs1372679140 CA387059681 |
1083 | A>E | No |
ClinGen gnomAD |
|
|
CA6848108 rs141767241 |
1083 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1475794952 CA387059684 |
1084 | L>M | No |
ClinGen gnomAD |
|
|
rs767915646 CA6848109 |
1084 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1086 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234974852 CA387059699 |
1086 | K>T | No |
ClinGen TOPMed |
|
|
rs753334234 CA6848110 |
1087 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs754544017 CA6848111 |
1087 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA6848112 rs200596757 |
1088 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6848133 rs777291592 |
1089 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387060162 rs1565985167 |
1090 | L>S | No |
ClinGen Ensembl |
|
|
CA6848135 rs751308711 |
1091 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244755529 rs1049571119 |
1091 | F>L | No |
ClinGen Ensembl |
|
|
CA244755530 rs868068084 |
1092 | K>* | No |
ClinGen Ensembl |
|
|
rs757056297 CA6848136 |
1092 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6848137 rs781184317 |
1095 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA387060258 rs1302892806 |
1096 | N>S | No |
ClinGen gnomAD |
|
|
CA387060273 rs1565985244 |
1097 | A>G | No |
ClinGen Ensembl |
|
|
CA6848138 rs745840180 |
1097 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6848139 rs756144044 |
1100 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387060337 rs1419972138 |
1102 | L>W | No |
ClinGen gnomAD |
|
|
rs749384779 CA387060390 |
1106 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848141 rs749384779 |
1106 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423466477 CA387060395 |
1107 | C>R | No |
ClinGen gnomAD |
|
|
CA244755549 rs377539396 |
1111 | C>F | No |
ClinGen ESP |
|
|
CA387060455 rs1177822300 |
1111 | C>R | No |
ClinGen TOPMed |
|
|
CA244755548 rs377539396 |
1111 | C>S | No |
ClinGen ESP |
|
|
rs768942364 CA387060479 |
1112 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6848143 rs774497403 |
1113 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927260136 CA244755554 |
1113 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA244755557 rs774497403 |
1113 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927260136 CA387060486 |
1113 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA387060532 rs772367216 |
1116 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6848145 rs772367216 |
1116 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs761117849 CA6848147 |
1119 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6848148 rs370952397 |
1119 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479973332 CA387060586 |
1120 | V>M | No |
ClinGen gnomAD |
|
|
CA6848150 rs762460965 |
1121 | T>I | No |
ClinGen ExAC |
|
|
rs1593609727 CA387060643 |
1124 | V>G | No |
ClinGen Ensembl |
|
|
CA387060633 rs1446570643 |
1124 | V>M | No |
ClinGen TOPMed |
|
|
rs751235512 CA6848152 |
1125 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6848153 rs762124576 |
1126 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422871506 CA387060683 |
1127 | N>K | No |
ClinGen gnomAD |
|
|
CA6848155 rs750274991 |
1127 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA387060700 rs1164928488 |
1129 | P>A | No |
ClinGen gnomAD |
|
|
rs756049169 CA6848156 |
1131 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6848157 rs61751323 |
1132 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387060736 rs1219423656 |
1132 | I>V | No |
ClinGen gnomAD |
|
|
CA6848159 rs371428062 |
1134 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1330621580 CA387060751 |
1134 | D>H | No |
ClinGen gnomAD |
|
|
CA6848158 rs371428062 |
1134 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779167750 CA6848160 |
1137 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs779167750 CA387060769 |
1137 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs772365714 CA6848163 |
1143 | C>* | No |
ClinGen ExAC |
|
|
rs748371320 CA6848162 |
1143 | C>Y | No |
ClinGen ExAC |
|
| TCGA novel | 1148 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1444088158 | 1148 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6848181 rs752849627 |
1150 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278915597 CA387061040 |
1155 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs530220395 CA6848182 |
1158 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1158 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754996062 CA6848183 |
1161 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848184 rs747358470 |
1162 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1038774403 CA244755769 |
1162 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6848185 rs541948519 |
1164 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1238851292 CA387061254 |
1171 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6848186 rs374132869 COSM3772296 |
1171 | D>Y | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6848187 rs746410866 |
1173 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1192381228 CA387061273 |
1174 | G>R | No |
ClinGen gnomAD |
|
|
CA387061324 rs1376668602 |
1179 | A>G | No |
ClinGen gnomAD |
|
|
rs1565986989 CA387061326 |
1180 | S>A | No |
ClinGen Ensembl |
|
|
rs771751080 CA6848209 |
1182 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA387061345 rs1355321899 |
1183 | T>P | No |
ClinGen gnomAD |
|
|
CA387061355 rs772980531 |
1184 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs772980531 CA6848210 |
1184 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1406664710 CA387061353 |
1184 | H>Y | No |
ClinGen TOPMed |
|
|
CA244756008 rs916537311 |
1185 | K>E | No |
ClinGen gnomAD |
|
|
CA387061367 rs1338405324 |
1186 | D>V | No |
ClinGen TOPMed |
|
|
CA6848211 rs760358342 |
1186 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs371931759 CA387061372 |
1187 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371931759 CA6848212 |
1187 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776217427 CA6848213 |
1188 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6848214 rs533594471 |
1189 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1386875860 CA387061394 |
1190 | E>A | No |
ClinGen TOPMed |
|
|
CA387061424 rs1382473194 |
1194 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1195 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6848216 rs752745229 |
1196 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA6848218 rs372569999 |
1198 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387061457 rs372569999 |
1198 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757430426 CA6848220 |
1201 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs750742100 CA6848222 |
1202 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs756569830 CA6848224 |
1207 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848225 rs377094070 |
1209 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1356472325 CA387061537 |
1210 | L>H | No |
ClinGen gnomAD |
|
|
rs777382168 CA6848228 COSM936265 |
1212 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1199103736 CA387061551 |
1213 | I>L | No |
ClinGen gnomAD |
|
|
CA387061558 rs1344629297 |
1214 | Y>N | No |
ClinGen TOPMed |
|
|
CA387061570 rs1593613431 |
1215 | E>G | No |
ClinGen Ensembl |
|
|
rs995696994 CA244756083 |
1216 | L>R | No |
ClinGen Ensembl |
|
|
rs1555232314 CA387061588 |
1218 | S>* | No |
ClinGen Ensembl |
|
|
CA387061593 rs1187145764 |
1219 | S>P | No |
ClinGen gnomAD |
|
|
CA6848230 rs150106151 |
1221 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6848248 rs372672248 |
1226 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1227 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6848249 rs200467562 |
1228 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1229 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs915532935 CA244756466 |
1229 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 1231 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387061704 rs1593616209 |
1235 | S>G | No |
ClinGen Ensembl |
|
|
CA6848251 rs745582103 |
1237 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1324469342 CA387061725 |
1238 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 1239 | C>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6848252 rs769352525 |
1239 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347457643 CA387061738 |
1240 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA387061751 rs1468767800 |
1242 | N>D | No |
ClinGen TOPMed |
|
|
rs575582844 CA6848254 |
1242 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768568451 CA6848255 |
1243 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA387061784 rs1379375466 |
1245 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1246 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6848273 rs185586963 |
1247 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1593619094 CA387061814 |
1249 | L>F | No |
ClinGen Ensembl |
|
|
rs755726457 CA6848274 |
1252 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6848275 rs779631085 |
1254 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749077462 CA6848276 |
1256 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs577881416 CA6848277 |
1257 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6848278 rs376432046 |
1258 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387061878 rs1377991583 |
1260 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA387061877 rs1377991583 |
1260 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387061881 rs1235059482 |
1261 | N>H | No |
ClinGen TOPMed |
|
|
rs748027315 CA6848280 |
1263 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs748027315 CA387061895 |
1263 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1245546195 CA387061908 |
1264 | E>D | No |
ClinGen gnomAD |
|
|
CA387061907 rs1321219613 |
1264 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1265 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267765349 CA387061923 |
1266 | S>R | No |
ClinGen gnomAD |
|
|
CA387061938 rs1473123149 |
1268 | W>* | No |
ClinGen gnomAD |
|
|
CA6848281 rs545220073 |
1269 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs563495095 CA6848284 |
1270 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387061952 rs1422740845 |
1271 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1273 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1359621 CA387061975 rs1420018365 |
1274 | F>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA387061988 rs1468850576 |
1276 | V>A | No |
ClinGen TOPMed |
|
|
CA387061986 rs1334173766 |
1276 | V>F | No |
ClinGen TOPMed |
|
|
rs1334173766 CA387061984 |
1276 | V>I | No |
ClinGen TOPMed |
|
|
rs771176050 CA6848285 |
1277 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6848286 rs777064738 |
1279 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA387062030 rs1400807960 |
1283 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6848288 rs765748060 |
1284 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs753136807 CA6848289 |
1285 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA387062045 rs1183492622 |
1285 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1593619619 CA387062052 |
1286 | S>C | No |
ClinGen Ensembl |
|
|
CA6848290 rs763478070 |
1287 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA387062083 rs1316652084 |
1291 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs749890970 CA6848292 |
1292 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs531317872 CA6848293 |
1292 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA244756891 rs372587320 |
1294 | T>A | No |
ClinGen Ensembl |
|
|
CA387062112 rs1482721043 |
1295 | L>F | No |
ClinGen gnomAD |
|
|
CA6848296 rs754646203 |
1295 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770173121 CA6848308 |
1300 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567587924 CA6848310 |
1303 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6848309 rs775931092 |
1303 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA387062181 rs1424173814 |
1304 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387062190 rs1433510666 |
1305 | L>S | No |
ClinGen gnomAD |
|
|
rs1437294108 CA387062194 |
1306 | V>I | No |
ClinGen TOPMed |
|
|
CA387062225 rs1358790423 |
1310 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387062229 rs1298878536 |
1311 | V>I | No |
ClinGen gnomAD |
|
|
CA6848315 rs182542690 |
1312 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6848314 rs370647423 |
1312 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6848313 rs370647423 |
1312 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6848317 rs764879176 |
1313 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA6848316 rs754554613 |
1313 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA244757061 rs772290371 |
1313 | M>V | No |
ClinGen Ensembl |
|
|
CA244757067 rs913030692 |
1314 | E>G | No |
ClinGen Ensembl |
|
|
rs1305183774 CA387062276 |
1318 | K>E | No |
ClinGen gnomAD |
|
|
rs979058487 CA244757074 |
1318 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs758198302 CA6848319 |
1321 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1167993460 CA387062295 |
1321 | I>V | No |
ClinGen TOPMed |
|
|
rs752809151 CA244757079 |
1323 | I>M | No |
ClinGen Ensembl |
|
|
CA6848320 rs201600632 |
1323 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148599474 CA244757080 |
1328 | T>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA6848321 rs545256990 |
1329 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs557174875 CA6848322 |
1331 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1593622063 CA387062365 |
1332 | H>L | No |
ClinGen Ensembl |
|
|
CA387062372 rs1258964314 |
1333 | K>R | No |
ClinGen gnomAD |
|
|
CA6848342 COSM936268 rs752336311 |
1338 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6848343 rs199554625 |
1338 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1169040821 CA387062429 |
1340 | V>I | No |
ClinGen gnomAD |
|
|
rs372501009 CA6848347 |
1343 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368464642 CA6848346 |
1343 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751404560 CA6848345 COSM1188645 |
1343 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1359624 rs745930138 CA6848348 |
1345 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM4146761 rs1374115321 CA387062469 |
1346 | L>F | thyroid [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA387062464 rs1593627364 |
1346 | L>M | No |
ClinGen Ensembl |
|
|
CA244759908 rs779440210 |
1347 | G>V | No |
ClinGen Ensembl |
|
|
rs1283074136 CA387062480 |
1348 | Y>C | No |
ClinGen gnomAD |
|
|
rs1235026108 CA387062507 |
1352 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6848351 rs749420792 |
1354 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA387062520 rs1256033270 |
1354 | Q>P | No |
ClinGen gnomAD |
|
|
CA6848352 rs564690172 |
1356 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387062533 rs1414692143 |
1356 | D>H | No |
ClinGen gnomAD |
|
|
CA6848353 rs779078149 |
1357 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs772551615 CA6848355 |
1359 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA244759928 rs35806018 |
1362 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1282750877 CA387062582 |
1363 | K>E | No |
ClinGen TOPMed |
|
|
CA6848358 rs369310376 |
1364 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6848359 rs775091394 |
1365 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs890879823 CA244759940 |
1366 | D>H | No |
ClinGen Ensembl |
|
|
CA387062611 rs1565993721 |
1367 | K>R | No |
ClinGen Ensembl |
|
|
rs762475893 CA6848360 |
1368 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs866188207 CA244759955 |
1370 | Q>H | No |
ClinGen Ensembl |
|
|
CA6848362 rs767757962 |
1373 | D>K | No |
ClinGen ExAC |
|
|
CA387062652 COSM275782 rs1398252293 |
1373 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6848365 rs767558368 |
1376 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1355576785 CA387062677 |
1376 | L>W | No |
ClinGen gnomAD |
|
|
rs1285367767 CA387062691 |
1377 | A>T | No |
ClinGen gnomAD |
|
|
rs778074193 CA6848396 |
1378 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848397 rs747381203 |
1379 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA387062711 rs1451398366 |
1380 | L>P | No |
ClinGen gnomAD |
|
|
rs1194650449 CA387062719 |
1382 | G>S | No |
ClinGen gnomAD |
|
|
CA6848398 rs757648651 |
1383 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6848400 rs748743485 |
1384 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6848399 rs781753461 |
1384 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA244760220 rs540063427 |
1385 | L>R | No |
ClinGen 1000Genomes |
|
|
rs572769285 CA244760210 |
1385 | L>V | No |
ClinGen 1000Genomes |
|
| TCGA novel | 1386 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379191961 CA387062743 |
1386 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1453797281 CA387062750 |
1387 | S>I | No |
ClinGen gnomAD |
|
|
rs768254164 CA6848401 |
1388 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA6848402 COSM936270 rs774019143 |
1389 | Y>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6848403 rs774019143 |
1389 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771853294 CA6848404 |
1390 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs912460940 CA244760232 |
1391 | E>K | No |
ClinGen Ensembl |
|
|
rs773082639 CA6848405 |
1392 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs760601600 CA6848406 |
1394 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244760257 rs191910729 |
1397 | K>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA387062812 rs1164803195 |
1397 | K>Q | No |
ClinGen TOPMed |
|
|
CA6848408 COSM1359626 rs566613986 |
1399 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759508546 CA6848411 |
1399 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759508546 CA6848410 |
1399 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214764334 CA387062833 |
1400 | E>* | No |
ClinGen gnomAD |
|
|
rs762851601 CA6848413 |
1400 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758551489 CA6848414 |
1401 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6848416 rs376513898 |
1406 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376513898 CA6848415 |
1406 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6848417 rs757708469 |
1408 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6848418 rs781519591 |
1409 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848419 rs746336479 |
1410 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387062898 rs746336479 |
1410 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366701984 CA387062901 |
1410 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6848420 rs369735435 |
1412 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA244760284 rs1013068092 |
1413 | K>E | No |
ClinGen Ensembl |
|
|
rs1396449942 CA387062924 |
1414 | L>P | No |
ClinGen gnomAD |
|
|
CA244761406 rs773208953 |
1416 | I>L | No |
ClinGen Ensembl |
|
|
CA6848452 COSM3722312 rs745665785 |
1417 | S>C | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6848453 rs745665785 |
1417 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749261940 CA244761409 |
1420 | P>Q | No |
ClinGen Ensembl |
|
|
rs1593639233 CA387062988 |
1422 | F>L | No |
ClinGen Ensembl |
|
|
CA6848455 rs762991897 |
1427 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs768773060 CA6848456 |
1428 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1476788223 CA387063040 |
1430 | K>E | No |
ClinGen gnomAD |
|
|
CA6848458 rs762027879 |
1430 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs767645076 CA6848459 |
1431 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA387063060 rs1430034422 |
1433 | I>F | No |
ClinGen gnomAD |
|
|
CA387063059 rs1430034422 |
1433 | I>V | No |
ClinGen gnomAD |
|
|
rs938143715 CA244761414 |
1435 | A>T | No |
ClinGen TOPMed |
|
|
CA6848460 rs750784882 |
1435 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6848461 rs761008447 |
1437 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA387063090 rs1360825229 |
1438 | E>* | No |
ClinGen TOPMed |
|
|
rs1315250012 CA387063096 |
1439 | N>H | No |
ClinGen TOPMed |
|
|
rs754441025 CA6848463 |
1440 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6848462 rs766959318 |
1440 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6848464 rs374785525 |
1441 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200503296 CA244761422 |
1442 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200503296 CA6848465 |
1442 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200503296 CA387063119 |
1442 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs896733876 CA244761435 |
1443 | D>N | No |
ClinGen gnomAD |
|
|
CA387063133 rs751039434 |
1444 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs751039434 CA6848466 |
1444 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs973177162 CA244761448 |
1446 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1346698482 CA387063159 |
1448 | L>W | No |
ClinGen gnomAD |
|
| TCGA novel | 1452 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387063217 rs1468717078 |
1454 | F>C | No |
ClinGen gnomAD |
|
|
CA6848484 rs73407858 |
1455 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6848485 rs569474522 CA6848486 |
1455 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1480842065 CA387063229 |
1456 | L>W | No |
ClinGen TOPMed |
|
|
CA6848487 rs750091974 |
1457 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410875817 CA387063247 |
1459 | D>N | No |
ClinGen gnomAD |
|
|
CA6848489 rs779785645 |
1459 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA387063262 rs1395702459 |
1461 | V>F | No |
ClinGen gnomAD |
|
|
CA6848492 rs778782039 |
1463 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848493 rs748225071 |
1465 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6848494 rs530384725 |
1465 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771286904 CA387063293 |
1466 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848497 rs771286904 |
1466 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747192233 CA6848496 |
1466 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777081250 CA6848498 |
1468 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848500 rs765773088 |
1469 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1417899482 CA387063311 |
1469 | L>P | No |
ClinGen gnomAD |
|
|
CA387063312 rs1417899482 |
1469 | L>R | No |
ClinGen gnomAD |
|
|
rs775902142 CA6848501 |
1471 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs766890908 CA6848503 |
1472 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs761365330 CA387063329 |
1472 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761365330 CA6848502 |
1472 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848504 rs374685449 |
1473 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374685449 CA6848505 |
1473 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1475 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200836404 CA6848508 |
1476 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1165830833 CA387063358 |
1477 | Q>L | No |
ClinGen TOPMed |
|
|
rs1593648483 CA387063363 |
1478 | G>S | No |
ClinGen Ensembl |
|
|
rs747982808 CA6848510 |
1478 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA387063372 rs1462936370 COSM1599999 |
1479 | Q>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA387063404 rs777644445 |
1484 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387063407 rs1181002249 |
1484 | M>T | No |
ClinGen TOPMed |
|
|
rs777644445 CA6848512 |
1484 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387063431 rs1163059327 |
1487 | A>V | No |
ClinGen gnomAD |
|
|
rs1355792139 CA387063441 |
1489 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6848514 rs201757501 |
1489 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746207263 CA6848516 |
1490 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM936273 CA6848515 rs369923772 |
1490 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA387063472 rs775946277 |
1494 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775946277 CA6848518 |
1494 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868852678 CA244762607 |
1496 | A>D | No |
ClinGen Ensembl |
|
|
rs768470799 CA244762602 |
1496 | A>P | No |
ClinGen Ensembl |
|
|
CA387063486 rs1215084868 |
1497 | K>R | No |
ClinGen TOPMed |
|
|
rs772694843 CA6848522 COSM225008 |
1499 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA387063500 rs1275307801 |
1499 | L>R | No |
ClinGen gnomAD |
|
|
rs772694843 CA6848521 |
1499 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs765984749 CA387063501 |
1500 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6848523 rs765984749 |
1500 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA387063513 rs1258893868 |
1501 | M>I | No |
ClinGen gnomAD |
|
|
rs753535230 CA6848524 |
1501 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6848526 rs35315099 VAR_051084 |
1506 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6848529 rs758214565 |
1508 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1168153376 CA387063562 |
1509 | K>R | No |
ClinGen gnomAD |
|
|
rs900562877 CA244762667 |
1510 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 1510 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6848530 rs186936079 |
1511 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM249529 CA6848531 rs75696429 |
1512 | V>G | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA387063586 rs1376047296 |
1513 | I>F | No |
ClinGen gnomAD |
|
|
CA387063595 rs1438976869 |
1514 | S>I | No |
ClinGen TOPMed |
|
|
rs188333792 CA6848533 |
1515 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387063605 rs1325652304 |
1516 | S>G | No |
ClinGen gnomAD |
|
|
rs868009939 CA244762690 |
1517 | G>E | No |
ClinGen Ensembl |
|
|
rs1227804932 CA387063623 |
1518 | I>M | No |
ClinGen gnomAD |
|
|
rs1272212082 CA387063628 |
1519 | L>R | No |
ClinGen gnomAD |
|
|
rs373258279 CA6848537 |
1520 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377338340 CA6848538 |
1521 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6848545 rs141319247 |
1523 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA244764850 rs188264424 |
1526 | D>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs764096706 CA6848547 |
1527 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA387063714 rs1312190763 COSM3688005 |
1529 | M>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs757284102 CA6848549 |
1532 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs751600300 CA6848548 |
1532 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454217351 CA387063734 |
1533 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA244764857 rs1051571885 |
1537 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1398121818 CA387063765 |
1537 | I>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1537 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA244764862 rs796953117 |
1539 | R>* | No |
ClinGen TOPMed |
|
|
rs537391298 CA244764864 |
1539 | R>Q | No |
ClinGen 1000Genomes |
|
|
CA244764868 rs896655166 |
1541 | D>G | No |
ClinGen TOPMed |
|
|
CA387063803 rs1392271520 |
1543 | K>R | No |
ClinGen TOPMed |
|
|
CA387063829 rs1444121348 |
1547 | I>V | No |
ClinGen TOPMed |
|
|
rs1326837305 CA387063844 |
1549 | I>V | No |
ClinGen gnomAD |
|
|
CA387063854 rs1373465332 |
1550 | N>S | No |
ClinGen gnomAD |
|
|
rs1243648979 CA387063861 |
1551 | Q>P | No |
ClinGen TOPMed |
|
|
rs1593661178 CA387063904 |
1552 | A>P | No |
ClinGen Ensembl |
|
|
rs1295464894 CA387063921 |
1554 | S>G | No |
ClinGen gnomAD |
|
|
rs761777471 CA6848569 |
1555 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1556 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1250360699 CA387063972 |
1558 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6848570 rs767576864 |
1559 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA6848572 rs756256949 |
1561 | S>L | No |
ClinGen ExAC TOPMed |
|
|
CA387064014 rs1467714969 |
1562 | Y>H | No |
ClinGen TOPMed |
|
|
rs754043201 CA6848574 |
1563 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA387064055 rs1188442301 |
1565 | I>M | No |
ClinGen gnomAD |
|
|
CA244765324 rs368101210 |
1567 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs755219785 CA6848575 |
1567 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848576 rs779178448 |
1568 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA387064072 rs371479973 |
1569 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6848578 rs371479973 |
1569 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA244765330 rs1051325845 |
1570 | D>G | No |
ClinGen TOPMed |
|
|
rs1256517743 CA387064088 |
1572 | E>K | No |
ClinGen TOPMed |
|
|
rs1311120129 CA387064101 |
1573 | Y>C | No |
ClinGen gnomAD |
|
|
CA6848580 rs745341317 |
1574 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA387064151 rs1479427306 |
1580 | V>I | No |
ClinGen TOPMed |
|
|
CA244765346 rs999109760 |
1581 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6848581 rs769398897 |
1582 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA387064171 rs1294494775 |
1583 | L>S | No |
ClinGen gnomAD |
|
|
CA6848585 rs543461396 |
1586 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1587 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs555365524 CA6848587 |
1592 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1594 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387064256 rs1300425498 |
1596 | I>M | No |
ClinGen TOPMed |
|
|
CA387064258 rs760551034 |
1597 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA6848589 rs760551034 |
1597 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA387064266 rs1281826815 |
1598 | F>L | No |
ClinGen gnomAD |
|
|
CA6848590 rs766442610 |
1603 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1604 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767528355 CA244765384 |
1605 | W>C | No |
ClinGen Ensembl |
|
|
CA6848591 rs752554885 |
1606 | K>E | No |
ClinGen ExAC gnomAD |
|
|
COSM936275 rs755131976 CA6848592 |
1608 | L>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6848607 rs771850728 |
1610 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6848608 rs772911607 |
1610 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1612 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6848610 rs369840547 |
1613 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776756136 CA6848611 |
1613 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1615 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6848615 rs763188648 |
1624 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1288841206 CA387064477 |
1627 | M>I | No |
ClinGen gnomAD |
|
|
CA387064499 rs1271079700 |
1629 | F>I | No |
ClinGen gnomAD |
|
|
rs1040371294 CA244765562 CA387064505 |
1629 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs377556294 CA6848636 |
1633 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA244765567 rs1051942278 |
1634 | L>P | No |
ClinGen TOPMed |
|
|
rs1419058716 CA387064541 |
1635 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1593662346 CA387064544 |
1636 | V>M | No |
ClinGen Ensembl |
|
|
rs1164639248 COSM1359629 CA387064560 |
1639 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 1641 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756718707 CA6848640 |
1642 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA387064582 rs1247882200 |
1642 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs372567149 CA6848641 |
1643 | F>C | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 1644 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758051779 CA6848643 |
1644 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387064617 rs777353240 |
1646 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1646 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371016706 CA6848646 |
1650 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387064668 rs1276630633 |
1654 | L>* | No |
ClinGen TOPMed |
|
|
CA6848649 rs117543414 |
1656 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs117543414 CA6848648 |
1656 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA244765606 rs376125787 |
1658 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs374789933 CA6848652 |
1660 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6848653 rs774478500 |
1661 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848654 rs762115301 |
1661 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387064711 rs1414626170 |
1662 | L>M | No |
ClinGen TOPMed |
|
|
CA387064728 rs1426859546 |
1664 | N>I | No |
ClinGen TOPMed |
|
|
rs1013795802 CA244765618 |
1664 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1667 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6848657 rs773715097 |
1667 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6848656 rs773715097 |
1667 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1432263332 CA387064756 |
1668 | T>S | No |
ClinGen gnomAD |
|
|
CA6848659 rs752247676 |
1671 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848661 rs763782509 |
1672 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs751126982 CA6848662 |
1673 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA387064796 rs1236018749 |
1675 | E>K | No |
ClinGen TOPMed |
|
|
rs1024816135 CA244765648 |
1677 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1443166526 CA387064818 |
1678 | L>V | No |
ClinGen TOPMed |
|
|
rs367958993 CA6848667 |
1680 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387064832 rs1368874405 |
1680 | S>P | No |
ClinGen gnomAD |
|
|
CA6848664 rs367958993 |
1680 | S>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387064834 rs1233647385 |
1681 | I>L | No |
ClinGen gnomAD |
|
|
rs969847050 CA244765691 |
1681 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA387064835 rs1233647385 |
1681 | I>V | No |
ClinGen gnomAD |
|
|
rs770283547 CA244765693 |
1683 | N>I | No |
ClinGen gnomAD |
|
|
CA387064858 rs1347724828 |
1684 | P>Q | No |
ClinGen gnomAD |
|
|
CA387064860 rs1203800403 |
1685 | E>K | No |
ClinGen gnomAD |
|
|
CA387064874 rs1284052777 |
1686 | W>* | No |
ClinGen gnomAD |
|
|
rs371889114 CA244765697 |
1687 | A>V | No |
ClinGen ESP TOPMed |
|
|
rs192721169 CA6848668 |
1688 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387064896 rs1188819113 |
1689 | A>G | No |
ClinGen gnomAD |
|
|
CA387064902 rs1593662767 |
1690 | I>V | No |
ClinGen Ensembl |
|
|
CA6848669 rs373590239 |
1692 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387064930 rs1452105518 |
1693 | S>R | No |
ClinGen gnomAD |
|
|
CA387064936 rs1555237278 |
1693 | S>T | No |
ClinGen Ensembl |
|
|
CA6848670 rs368892317 |
1696 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA244766302 rs931153925 |
1702 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387065893 rs750218882 |
1706 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848697 rs750218882 |
1706 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848698 rs750218882 |
1706 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848700 rs779947040 |
1710 | F>C | No |
ClinGen ExAC TOPMed |
|
|
CA387065942 rs1328858161 COSM692567 |
1710 | F>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA387065965 rs1048797856 |
1711 | C>* | No |
ClinGen gnomAD |
|
|
CA387065961 rs1474652980 |
1711 | C>F | No |
ClinGen TOPMed |
|
|
CA6848701 rs201877014 |
1712 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6848702 rs754945133 |
1715 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA387066021 rs1282642772 |
1716 | E>K | No |
ClinGen gnomAD |
|
|
rs868777106 CA244766324 |
1718 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1243628491 CA387066048 |
1718 | W>R | No |
ClinGen gnomAD |
|
|
CA6848705 rs202181687 |
1720 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6848706 rs778179972 |
1721 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747353989 CA6848707 |
1722 | I>N | No |
ClinGen ExAC |
|
|
CA6848708 rs771375125 |
1723 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs777086152 CA6848709 |
1723 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA387066127 rs759894811 |
1724 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA6848710 rs759894811 |
1724 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA387066140 rs1370413342 |
1725 | Q>R | No |
ClinGen gnomAD |
|
| rs983949034 | 1726 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772711216 CA6848733 |
1726 | D>Y | No |
ClinGen ExAC |
|
|
CA387066215 rs1380193596 |
1727 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6848734 rs559013460 |
1729 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6848735 rs766109359 COSM430581 |
1729 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6848736 rs369189727 |
1732 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759415897 CA6848737 |
1733 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387066316 rs1257576044 |
1735 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1736 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387066341 rs1484736662 |
1737 | K>Q | No |
ClinGen gnomAD |
|
|
CA6848739 rs752631947 |
1738 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs759672184 CA6848740 |
1740 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1425128748 CA387066406 |
1741 | I>S | No |
ClinGen gnomAD |
|
|
CA6848743 rs757408657 |
1742 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848741 rs764204931 |
1742 | Q>K | No |
ClinGen ExAC |
|
|
rs751702711 CA6848742 |
1742 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
rs756553539 CA6848746 |
1744 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848745 rs746190485 |
1744 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs966574653 CA244766522 |
1745 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6848747 rs780306479 |
1745 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387066461 rs749726386 |
1746 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848748 rs749726386 |
1746 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387066475 rs1272541364 |
1748 | T>P | No |
ClinGen gnomAD |
|
|
CA387066507 rs1219751774 |
1750 | A>V | No |
ClinGen gnomAD |
|
|
CA387066515 rs1314977511 |
1751 | V>A | No |
ClinGen gnomAD |
|
|
CA6848750 rs151223138 |
1751 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs151223138 CA387066509 |
1751 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1269059157 CA387066547 |
1754 | A>S | No |
ClinGen gnomAD |
|
|
CA387066577 rs1212011326 |
1756 | K>N | No |
ClinGen gnomAD |
|
|
rs373134120 CA6848754 |
1757 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1052613813 CA244766557 |
1758 | N>D | No |
ClinGen Ensembl |
|
|
rs893531873 CA244766561 |
1759 | T>A | No |
ClinGen Ensembl |
|
|
CA6848756 rs775432207 |
1760 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs775432207 CA387066613 |
1760 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387066627 rs1396252480 |
1761 | E>K | No |
ClinGen TOPMed |
|
|
CA6848758 rs764186570 |
1765 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs757403061 COSM384606 CA6848760 |
1767 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA387066751 rs1555237885 |
1771 | H>Y | No |
ClinGen Ensembl |
|
|
CA6848765 rs749708041 |
1775 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6848766 rs755470402 |
1776 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1593666545 CA387066834 |
1777 | Y>F | No |
ClinGen Ensembl |
|
|
rs542508586 CA6848768 |
1778 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs770425941 CA6848769 |
1780 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848771 rs376028299 |
1783 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387066921 rs1231728317 |
1784 | Q>K | No |
ClinGen gnomAD |
|
|
CA387066929 rs1593666618 |
1784 | Q>R | No |
ClinGen Ensembl |
|
|
CA244766642 rs930721252 |
1785 | R>G | No |
ClinGen TOPMed |
|
|
COSM282300 rs1475420874 CA387066944 |
1785 | R>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6848773 rs769346521 |
1787 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs775412077 CA6848774 |
1789 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555237911 CA387067018 |
1791 | G>V | No |
ClinGen Ensembl |
|
|
rs762907888 CA387067034 |
1793 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848775 rs762907888 |
1793 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387067052 rs1270558933 |
1794 | Y>F | No |
ClinGen TOPMed |
|
|
rs1555237923 CA387067071 |
1796 | D>N | No |
ClinGen Ensembl |
|
|
CA387067143 rs1333224278 |
1797 | I>T | No |
ClinGen gnomAD |
|
|
CA387067150 rs1156984907 |
1798 | H>Y | No |
ClinGen TOPMed |
|
|
CA387067168 rs1400253612 |
1799 | A>V | No |
ClinGen TOPMed |
|
|
rs749072956 CA6848792 |
1800 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6848793 rs768527036 |
1800 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1415936427 CA387067183 |
1801 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 1803 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6848794 rs774321818 |
1803 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA6848795 rs761745919 |
1804 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529981688 COSM1359633 CA6848797 |
1806 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1194057844 CA387067277 |
1808 | N>S | No |
ClinGen TOPMed |
|
|
rs1258642780 CA387067414 |
1818 | M>I | No |
ClinGen TOPMed |
|
|
rs766562256 CA6848800 |
1819 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA387067421 rs1214447171 |
1819 | L>M | No |
ClinGen TOPMed |
|
|
CA6848801 rs754010103 |
1821 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6848802 rs571378777 |
1823 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387067484 rs1391993775 |
1823 | W>* | No |
ClinGen gnomAD |
|
|
rs373558832 CA244766879 |
1824 | L>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs753014976 CA6848804 |
1825 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318851688 CA387067517 |
1826 | P>L | No |
ClinGen gnomAD |
|
|
CA244766886 rs770086755 |
1826 | P>S | No |
ClinGen Ensembl |
|
|
rs749919389 CA6848807 |
1828 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA244766894 rs1052077489 |
1828 | T>I | No |
ClinGen TOPMed |
|
|
CA6848808 rs755737986 |
1829 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA387067555 rs1430283227 |
1830 | P>A | No |
ClinGen TOPMed |
|
|
rs7310898 CA6848809 VAR_051085 |
1830 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1490630197 CA387068539 |
1834 | P>L | No |
ClinGen TOPMed |
|
|
rs751966081 CA6848825 |
1835 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA387068549 rs757874880 |
1836 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs757874880 CA6848826 |
1836 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA6848827 rs765923213 |
1837 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA6848828 rs753416151 |
1838 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184329807 CA387068567 |
1839 | E>Q | No |
ClinGen gnomAD |
|
|
rs889169995 CA244772219 |
1841 | Q>* | No |
ClinGen TOPMed |
|
|
CA387068581 rs889169995 |
1841 | Q>E | No |
ClinGen TOPMed |
|
|
CA6848829 rs754669999 |
1842 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA387068601 rs1457514515 |
1843 | D>E | No |
ClinGen gnomAD |
|
|
CA6848831 rs778467386 |
1845 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778467386 CA6848830 |
1845 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758075908 CA6848832 |
1847 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA6848833 COSM936279 rs202054994 |
1847 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1456539506 CA387068646 |
1849 | V>A | No |
ClinGen TOPMed |
|
|
CA6848860 rs563069855 |
1850 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387068659 rs1482772863 |
1851 | Y>C | No |
ClinGen gnomAD |
|
|
CA6848863 rs745926545 |
1854 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs374343598 CA6848865 |
1855 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769714305 CA6848864 |
1855 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1174501490 CA387068682 |
1856 | R>C | No |
ClinGen gnomAD |
|
|
CA6848866 rs367873698 COSM936280 |
1856 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA387068685 rs367873698 |
1856 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1407816003 CA387068696 |
1858 | I>T | No |
ClinGen gnomAD |
|
|
rs768939060 CA6848867 |
1858 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs549074031 CA6848869 |
1859 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6848868 rs774847008 |
1859 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA387068708 rs930931941 |
1860 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA244773399 rs930931941 |
1860 | Y>F | No |
ClinGen TOPMed |
|
|
CA6848870 rs772681792 |
1860 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs371795435 CA6848871 |
1866 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1346903835 CA387068757 |
1867 | V>A | No |
ClinGen gnomAD |
|
|
CA387068785 rs578088874 |
1872 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs578088874 CA244773405 |
1872 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6848872 rs761271707 |
1874 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848873 rs764584293 |
1874 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA387069430 rs1465967227 |
1877 | G>S | No |
ClinGen gnomAD |
|
|
CA387069455 rs1181100198 |
1878 | M>I | No |
ClinGen gnomAD |
|
|
rs1472430896 CA387069444 |
1878 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs550193120 CA244774852 |
1880 | Q>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1387551839 CA387069525 |
1882 | T>I | No |
ClinGen gnomAD |
|
|
rs372450429 CA6848896 |
1884 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6848897 rs762564992 |
1887 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs185213045 CA6848898 |
1888 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1371853741 CA387069656 |
1891 | Q>R | No |
ClinGen gnomAD |
|
|
CA244774860 rs941483494 |
1892 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6848899 rs751166784 |
1894 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6848901 rs767236759 |
1895 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6848900 rs761485749 |
1895 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563941779 CA6848902 |
1897 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6848903 rs755995647 |
1898 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA387069756 rs1289273519 |
1900 | E>K | No |
ClinGen gnomAD |
|
|
rs753836417 CA6848905 |
1902 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs931916476 CA244774897 |
1902 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs779163066 CA6848907 |
1904 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6848908 rs748310550 |
1904 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1482968730 CA387069810 |
1905 | L>V | No |
ClinGen gnomAD |
|
|
rs1555239969 CA387069819 |
1906 | F>L | No |
ClinGen Ensembl |
|
|
rs778267811 CA6848910 |
1907 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA387069866 rs1470978655 |
1910 | I>T | No |
ClinGen gnomAD |
|
|
rs535800130 CA6848912 |
1913 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1913 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6848925 rs546052261 |
1915 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758689741 CA6848927 |
1917 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs564272380 CA6848926 |
1917 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1918 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778180060 CA6848928 |
1919 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs747314540 CA6848929 |
1919 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1318660800 CA387070014 |
1921 | T>A | No |
ClinGen gnomAD |
|
|
CA244775229 rs941338409 |
1922 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387070047 rs1339142824 |
1924 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1925 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387070086 rs1343380497 |
1928 | T>A | No |
ClinGen gnomAD |
|
|
rs1262162347 CA387070134 |
1932 | P>S | No |
ClinGen gnomAD |
|
|
rs757593737 CA6848930 |
1935 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs975917410 CA244775274 |
1936 | E>K | No |
ClinGen Ensembl |
|
|
rs770302256 CA6848934 |
1938 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476948976 CA387070230 |
1942 | P>L | No |
ClinGen gnomAD |
|
|
CA387070233 rs1593683160 |
1943 | K>E | No |
ClinGen Ensembl |
|
|
CA387070235 rs1429688832 |
1943 | K>R | No |
ClinGen gnomAD |
|
|
CA387070247 rs1326790260 |
1945 | G>R | No |
ClinGen TOPMed |
|
|
CA387070254 rs1593683183 |
1946 | M>V | No |
ClinGen Ensembl |
|
|
CA387070263 rs1166647148 |
1947 | I>V | No |
ClinGen Ensembl |
|
|
CA387070308 rs1593683208 |
1953 | N>T | No |
ClinGen Ensembl |
|
|
CA6848937 rs771686077 |
1954 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6848938 rs772868295 |
1955 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs766129434 CA6848940 |
1956 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760272902 CA6848939 |
1956 | H>Y | No |
ClinGen ExAC TOPMed |
|
|
rs759532010 COSM261707 CA6848942 |
1957 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs765331209 CA6848943 |
1958 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1050913636 CA244775341 |
1959 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA244776402 rs941657022 |
1960 | A>T | No |
ClinGen Ensembl |
|
|
CA387070449 rs1221739081 |
1963 | L>M | No |
ClinGen gnomAD |
|
|
CA6848959 rs746612190 |
1964 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6848958 rs777150263 |
1964 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387070468 rs1202718952 |
1965 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1202718952 CA387070470 |
1965 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387070522 rs1419917111 |
1970 | E>Q | No |
ClinGen gnomAD |
|
|
rs1366801672 CA387070539 |
1971 | Y>F | No |
ClinGen gnomAD |
|
|
rs201126027 CA244776445 |
1971 | Y>H | No |
ClinGen 1000Genomes |
|
|
rs200898021 CA6848963 |
1974 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6848964 rs376634701 |
1976 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs944298357 CA244776474 |
1977 | Q>* | No |
ClinGen gnomAD |
|
|
CA387070641 rs1397602245 |
1980 | N>K | No |
ClinGen gnomAD |
|
|
CA387070638 rs1297157195 |
1980 | N>S | No |
ClinGen TOPMed |
|
|
rs1395569241 CA387070658 |
1982 | L>H | No |
ClinGen gnomAD |
|
|
CA6848966 rs764170655 |
1984 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1193296 CA6848967 rs574096690 |
1986 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1566018655 CA387070703 |
1986 | L>R | No |
ClinGen Ensembl |
|
|
CA6848968 rs371165754 |
1987 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373000158 CA6848969 |
1990 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750759642 CA6848970 |
1991 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305088197 CA387070804 |
1992 | I>M | No |
ClinGen TOPMed |
|
|
rs1391708995 CA387070797 |
1992 | I>V | No |
ClinGen TOPMed |
|
|
CA387070936 rs1379649718 |
2004 | S>I | No |
ClinGen TOPMed |
|
|
rs974198395 CA244776814 |
2004 | S>R | No |
ClinGen TOPMed |
|
|
rs201035166 CA6848979 |
2005 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387070957 rs929054140 |
2006 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA244776825 rs929054140 |
2006 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1375782753 CA387070954 |
2006 | H>Y | No |
ClinGen TOPMed |
|
|
CA387070989 rs1307918319 |
2009 | W>* | No |
ClinGen gnomAD |
|
|
CA387071152 rs1408082244 |
2013 | Y>H | No |
ClinGen gnomAD |
|
|
rs375695284 CA387071170 |
2015 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375695284 CA6849002 |
2015 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6849003 rs768610076 |
2016 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs368483300 CA6849004 |
2017 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748143502 CA6849005 |
2017 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA244779441 rs372428419 |
2019 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6849007 rs773290474 |
2020 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs375343576 CA6849008 |
2020 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375343576 CA6849009 |
2020 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6849010 rs11837038 VAR_051086 |
2021 | V>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs759866115 CA6849011 |
2022 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1243844350 CA387071216 |
2023 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA387071220 rs1315017017 |
2023 | Q>R | No |
ClinGen gnomAD |
|
|
CA244779486 rs888128043 |
2024 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1360831724 CA387071232 |
2025 | P>Q | No |
ClinGen gnomAD |
|
|
rs753104607 CA6849013 |
2026 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1421337817 CA387071274 |
2030 | S>F | No |
ClinGen gnomAD |
|
|
rs764767020 CA6849043 |
2031 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA387071290 rs1295036431 |
2033 | L>* | No |
ClinGen TOPMed |
|
|
rs755737784 CA6849045 |
2035 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA387071307 rs1451235839 |
2035 | P>L | No |
ClinGen TOPMed |
|
|
CA387071304 rs755737784 |
2035 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA387071323 rs1432065850 |
2037 | Q>H | No |
ClinGen gnomAD |
|
|
CA387071327 rs1272298085 |
2038 | L>P | No |
ClinGen gnomAD |
|
|
rs989486439 CA244779723 |
2041 | C>G | No |
ClinGen Ensembl |
|
|
rs961447821 CA244779724 |
2046 | I>T | No |
ClinGen TOPMed |
|
|
rs1262117437 CA387071380 |
2046 | I>V | No |
ClinGen gnomAD |
|
|
CA387071384 rs1201652948 |
2047 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6849046 rs151134699 |
2048 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6849048 rs528094170 |
2050 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387071427 rs1455044555 |
2051 | C>W | No |
ClinGen gnomAD |
|
|
rs751430815 CA6849076 |
2055 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2055 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387071460 rs1388164722 |
2055 | G>V | No |
ClinGen gnomAD |
|
|
rs1326427816 CA387071463 |
2056 | D>N | No |
ClinGen gnomAD |
|
|
CA6849078 rs757199881 |
2059 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6849079 rs560306260 |
2060 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387071516 rs780374419 |
2061 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780374419 CA6849081 |
2061 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769105761 CA244781287 |
2063 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769105761 CA6849083 |
2063 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387071563 rs1396063247 |
2066 | Y>C | No |
ClinGen TOPMed |
|
|
rs1175802785 CA387071570 |
2067 | I>L | No |
ClinGen TOPMed |
|
|
CA6849085 rs377336279 |
2072 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6849087 rs370269719 |
2072 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6849084 rs377336279 |
2072 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6849086 rs377336279 |
2072 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759133271 CA387071640 |
2073 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759133271 CA6849088 |
2073 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6849091 rs752304640 |
2075 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1370618254 CA387071688 |
2077 | A>V | No |
ClinGen gnomAD |
|
|
rs751404199 CA6849094 |
2078 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244781354 rs1026377702 |
2078 | C>S | No |
ClinGen TOPMed |
|
|
rs750453851 CA6849097 |
2082 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA6849096 rs767556658 |
2082 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs756158800 CA6849098 |
2083 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779999542 CA6849099 |
2084 | H>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2085 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6849101 rs755269609 |
2086 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA6849102 rs368756882 |
2087 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1200686818 CA387071900 |
2090 | Q>R | No |
ClinGen gnomAD |
|
|
rs1566023288 CA387071923 |
2092 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1218247088 CA387071949 |
2093 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6849118 rs755251263 |
2094 | N>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2096 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195453661 CA387072174 |
2099 | C>G | No |
ClinGen gnomAD |
|
|
rs367860451 CA6849120 |
2102 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1027418383 CA244782381 |
2103 | V>A | No |
ClinGen TOPMed |
|
|
CA6849121 rs186319199 |
2103 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387072226 rs186319199 |
2103 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs186319199 CA387072224 |
2103 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1180117195 CA387072245 |
2105 | L>V | No |
ClinGen TOPMed |
|
|
CA244782389 rs944395463 |
2111 | H>L | No |
ClinGen Ensembl |
|
|
rs910239224 CA244782385 |
2111 | H>N | No |
ClinGen Ensembl |
|
|
rs778031720 CA6849122 |
2112 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2112 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6849123 rs375970712 |
2113 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6849124 rs771390477 COSM936283 |
2114 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs771390477 CA387072371 |
2114 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748863249 CA6849126 |
2115 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2115 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434971875 CA387072381 |
2116 | Q>* | No |
ClinGen gnomAD |
|
|
rs773933138 CA6849128 |
2119 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6849130 rs767299452 |
2120 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA387072440 rs1315191457 |
2121 | S>A | No |
ClinGen gnomAD |
|
|
rs1052604960 CA244782459 |
2122 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs772901770 CA6849131 |
2123 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA387072840 rs1360602448 |
2124 | I>M | No |
ClinGen gnomAD |
|
|
rs778177496 CA6849141 |
2125 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1234108799 CA387072859 |
2126 | S>N | No |
ClinGen gnomAD |
|
|
CA387072853 rs1248061743 |
2126 | S>R | No |
ClinGen gnomAD |
|
|
CA244782855 rs893995810 |
2128 | I>M | No |
ClinGen Ensembl |
|
|
CA6849143 rs757777671 |
2131 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs781706275 CA6849144 |
2133 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6849145 rs375738921 |
2134 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2135 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384455918 CA387072989 |
2136 | K>* | No |
ClinGen gnomAD |
|
|
rs1349692301 CA387073035 |
2139 | G>R | No |
ClinGen TOPMed |
|
|
CA387073029 rs1349692301 |
2139 | G>W | No |
ClinGen TOPMed |
|
| TCGA novel | 2140 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6849147 rs768085665 |
2140 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6849148 rs778423506 |
2141 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425795357 CA387073077 |
2143 | K>E | No |
ClinGen TOPMed |
|
|
CA387073101 rs1178254213 |
2145 | K>E | No |
ClinGen TOPMed |
|
|
rs771666485 CA387073106 |
2145 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771666485 CA6849150 |
2145 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387073123 rs1332134652 |
2146 | Y>* | No |
ClinGen gnomAD |
|
|
rs773059288 CA6849152 |
2148 | Q>E | No |
ClinGen ExAC |
|
|
rs1593700178 CA387073189 |
2151 | K>R | No |
ClinGen Ensembl |
|
|
rs1379135018 CA387073202 |
2152 | M>T | No |
ClinGen gnomAD |
|
|
CA6849153 rs760448774 |
2154 | A>V | Variant assessed as Somatic; 5.444e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1380399900 CA387073249 |
2156 | N>D | No |
ClinGen gnomAD |
|
|
CA387073270 rs1230362396 |
2157 | T>I | No |
ClinGen gnomAD |
|
|
CA6849155 rs776645941 |
2158 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6849156 rs759579256 |
2159 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1481570192 CA387073300 |
2160 | I>V | No |
ClinGen gnomAD |
|
|
rs1258154886 CA387073313 |
2161 | T>A | No |
ClinGen gnomAD |
|
|
rs1258154886 CA387073312 |
2161 | T>P | No |
ClinGen gnomAD |
|
|
CA387073320 rs1458702457 |
2162 | E>* | No |
ClinGen gnomAD |
|
|
CA244782899 rs865850354 |
2162 | E>D | No |
ClinGen Ensembl |
|
|
rs942713528 CA244782916 |
2168 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs752769547 CA6849158 |
2169 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs763204458 CA6849159 |
2170 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6849161 rs541055107 |
2171 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA244784461 rs556830713 |
2172 | S>R | No |
ClinGen Ensembl |
|
|
rs770812752 CA6849179 |
2173 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404169360 CA387074023 |
2174 | D>G | No |
ClinGen gnomAD |
|
|
COSM546880 CA6849180 rs776590958 |
2176 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA387074070 rs1323493661 |
2176 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1566026462 CA387074075 |
2177 | S>P | No |
ClinGen Ensembl |
|
|
rs745779007 CA387074092 |
2178 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6849182 rs745779007 |
2178 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300386943 CA387074140 |
2180 | I>M | No |
ClinGen gnomAD |
|
|
CA6849185 rs762999729 |
2180 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6849184 rs199778988 |
2180 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1327325647 CA387074151 |
2181 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 2184 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221238034 CA387074185 |
2184 | S>L | No |
ClinGen gnomAD |
|
|
rs377549886 CA6849186 |
2184 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6849187 rs774367572 |
2185 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762051647 CA6849188 |
2185 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA244784549 rs923310288 |
2185 | K>R | No |
ClinGen Ensembl |
|
|
CA387074225 rs1220946589 |
2187 | C>G | No |
ClinGen gnomAD |
|
|
CA6849190 rs368918534 |
2188 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2190 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6849193 rs766503150 |
2191 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs757783372 CA6849194 |
2193 | P>A | No |
ClinGen ExAC TOPMed |
|
|
CA6849195 rs79125234 |
2195 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1384714767 CA387074408 |
2196 | A>S | No |
ClinGen TOPMed |
|
|
rs1164352871 CA387074414 |
2196 | A>V | No |
ClinGen TOPMed |
|
|
rs1555242481 CA387074436 |
2197 | P>L | No |
ClinGen Ensembl |
|
|
rs140880563 CA6849196 |
2200 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387074751 rs1165491349 |
2203 | M>I | No |
ClinGen TOPMed |
|
|
CA6849222 rs768685653 |
2203 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA6849221 rs201608746 |
2203 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387074800 rs1411599369 |
2205 | L>R | No |
ClinGen TOPMed |
|
|
CA244785827 rs1038106238 |
2206 | S>G | No |
ClinGen TOPMed |
|
|
rs1188715553 CA387074836 |
2207 | G>E | No |
ClinGen gnomAD |
|
|
rs1473725173 CA387074831 |
2207 | G>R | No |
ClinGen TOPMed |
No associated diseases with P50748
2 regional properties for P50748
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RZZ complex, subunit KNTC1/ROD, C-terminal | 487 - 915 | IPR019527-1 |
| domain | RZZ complex, subunit KNTC1/ROD, C-terminal | 1581 - 2129 | IPR019527-2 |
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| kinetochore microtubule | Any of the spindle microtubules that attach to the kinetochores of chromosomes by their plus ends, and maneuver the chromosomes during mitotic or meiotic chromosome segregation. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| RZZ complex | A kinetochore component required for both meiotic and mitotic spindle assembly checkpoints. |
| spindle pole | Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| small GTPase binding | Binding to a small monomeric GTPase. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| mitotic sister chromatid segregation | The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets. |
| mitotic spindle assembly checkpoint signaling | A signal transduction process that contributes to a mitotic cell cycle spindle assembly checkpoint, that delays the metaphase/anaphase transition of a mitotic nuclear division until the spindle is correctly assembled and chromosomes are attached to the spindle. |
| protein localization to kinetochore involved in kinetochore assembly | Any protein localization to kinetochore that is involved in kinetochore assembly. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| regulation of exit from mitosis | Any process involved in the progression from anaphase/telophase to G1 that is associated with a conversion from high to low mitotic CDK activity. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWNDIELLTN | DDTGSGYLSV | GSRKEHGTAL | YQVDLLVKIS | SEKASLNPKI | QACSLSDGFI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IVADQSVILL | DSICRSLQLH | LVFDTEVDVV | GLCQEGKFLL | VGERSGNLHL | IHVTSKQTLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TNAFVQKAND | ENRRTYQNLV | IEKDGSNEGT | YYMLLLTYSG | FFCITNLQLL | KIQQAIENVD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FSTAKKLQGQ | IKSSFISTEN | YHTLGCLSLV | AGDLASEVPV | IIGGTGNCAF | SKWEPDSSKK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GMTVKNLIDA | EIIKGAKKFQ | LIDNLLFVLD | TDNVLSLWDI | YTLTPVWNWP | SLHVEEFLLT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TEADSPSSVT | WQGITNLKLI | ALTASANKKM | KNLMVYSLPT | MEILYSLEVS | SVSSLVQTGI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| STDTIYLLEG | VCKNDPKLSE | DSVSVLVLRC | LTEALPENRL | SRLLHKHRFA | EAESFAIQFG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LDVELVYKVK | SNHILEKLAL | SSVDASEQTE | WQQLVDDAKE | NLHKIQDDEF | VVNYCLKAQW |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ITYETTQEML | NYAKTRLLKK | EDKTALIYSD | GLKEVLRAHA | KLTTFYGAFG | PEKFSGSSWI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EFLNNEDDLK | DIFLQLKEGN | LVCAQYLWLR | HRANFESRFD | VKMLESLLNS | MSASVSLQKL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| CPWFKNDVIP | FVRRTVPEGQ | IILAKWLEQA | ARNLELTDKA | NWPENGLQLA | EIFFTAEKTD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ELGLASSWHW | ISLKDYQNTE | EVCQLRTLVN | NLRELITLHR | KYNCKLALSD | FEKENTTTIV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FRMFDKVLAP | ELIPSILEKF | IRVYMREHDL | QEEELLLLYI | EDLLNRCSSK | STSLFETAWE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| AKAMAVIACL | SDTDLIFDAV | LKIMYAAVVP | WSAAVEQLVK | QHLEMDHPKV | KLLQESYKLM |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EMKKLLRGYG | IREVNLLNKE | IMRVVRYILK | QDVPSSLEDA | LKVAQAFMLS | DDEIYSLRII |
| 910 | 920 | 930 | 940 | 950 | 960 |
| DLIDREQGED | CLLLLKSLPP | AEAEKTAERV | IIWARLALQE | EPDHSKEGKA | WRMSVAKTSV |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| DILKILCDIQ | KDNLQKKDEC | EEMLKLFKEV | ASLQENFEVF | LSFEDYSNSS | LVADLREQHI |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| KAHEVAQAKH | KPGSTPEPIA | AEVRSPSMES | KLHRQALALQ | MSKQELEAEL | TLRALKDGNI |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| KTALKKCSDL | FKYHCNADTG | KLLFLTCQKL | CQMLADNVPV | TVPVGLNLPS | MIHDLASQAA |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| TICSPDFLLD | ALELCKHTLM | AVELSRQCQM | DDCGILMKAS | FGTHKDPYEE | WSYSDFFSED |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| GIVLESQMVL | PVIYELISSL | VPLAESKRYP | LESTSLPYCS | LNEGDGLVLP | VINSISALLQ |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| NLQESSQWEL | ALRFVVGSFG | TCLQHSVSNF | MNATLSEKLF | GETTLVKSRH | VVMELKEKAV |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| IFIRENATTL | LHKVFNCRLV | DLDLALGYCT | LLPQKDVFEN | LWKLIDKAWQ | NYDKILAISL |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| VGSELASLYQ | EIEMGLKFRE | LSTDAQWGIR | LGKLGISFQP | VFRQHFLTKK | DLIKALVENI |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| DMDTSLILEY | CSTFQLDCDA | VLQLFIETLL | HNTNAGQGQG | DASMDSAKRR | HPKLLAKALE |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| MVPLLTSTKD | LVISLSGILH | KLDPYDYEMI | EVVLKVIERA | DEKITNININ | QALSILKHLK |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| SYRRISPPVD | LEYQYMLEHV | ITLPSAAQTR | LPFHLIFFGT | AQNFWKILST | ELSEESFPTL |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| LLISKLMKFS | LDTLYVSTAK | HVFEKKLKPK | LLKLTQAKSS | TLINKEITKI | TQTIESCLLS |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| IVNPEWAVAI | AISLAQDIPE | GSFKISALKF | CLYLAERWLQ | NIPSQDEKRE | KAEALLKKLH |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| IQYRRSGTEA | VLIAHKLNTE | EYLRVIGKPA | HLIVSLYEHP | SINQRIQNSS | GTDYPDIHAA |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| AKEIAEVNEI | NLEKVWDMLL | EKWLCPSTKP | GEKPSELFEL | QEDEALRRVQ | YLLLSRPIDY |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| SSRMLFVFAT | STTTTLGMHQ | LTFAHRTRAL | QCLFYLADKE | TIESLFKKPI | EEVKSYLRCI |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| TFLASFETLN | IPITYELFCS | SPKEGMIKGL | WKNHSHESMA | VRLVTELCLE | YKIYDLQLWN |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| GLLQKLLGFN | MIPYLRKVLK | AISSIHSLWQ | VPYFSKAWQR | VIQIPLLSAS | CPLSPDQLSD |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| CSESLIAVLE | CPVSGDLDLI | GVARQYIQLE | LPAFALACLM | LMPHSEKRHQ | QIKNFLGSCD |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| PQVILKQLEE | HMNTGQLAGF | SHQIRSLILN | NIINKKEFGI | LAKTKYFQML | KMHAMNTNNI |
| 2170 | 2180 | 2190 | 2200 | ||
| TELVNYLAND | LSLDEASVLI | TEYSKHCGKP | VPPDTAPCEI | LKMFLSGLS |