Q5TAP6
PR
Gene name |
UTP14C (KIAA0266) |
Protein name |
U3 small nucleolar RNA-associated protein 14 homolog C |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9724 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q5TAP6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5TAP6-F1 | Predicted | AlphaFoldDB |
628 variants for Q5TAP6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs775998263 CA6990126 RCV000384111 |
21 | L>F | ALG11-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10639716 rs886050314 RCV000294432 |
28 | S>N | ALG11-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs184583544 RCV001113372 CA6990138 |
58 | R>W | ALG11-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001618548 rs3742289 RCV000389852 CA6990145 VAR_022812 |
85 | G>V | ALG11-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1232142 CA6990150 rs545278962 RCV001114746 |
93 | V>I | large_intestine prostate ALG11-congenital disorder of glycosylation [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001683258 rs3742290 VAR_022813 CA6990155 RCV000295578 |
101 | T>A | ALG11-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs144752647 CA6990157 RCV001114747 |
109 | V>D | ALG11-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001114748 CA6990181 RCV003163266 rs763915286 |
157 | V>G | Inborn genetic diseases ALG11-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000224403 rs73184339 RCV001114749 CA6990187 |
170 | I>V | ALG11-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6990199 rs201103979 RCV001109119 |
180 | R>S | ALG11-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
rs978706850 RCV001109120 CA250068840 |
192 | H>R | ALG11-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs886050315 RCV000336422 CA10644801 |
242 | K>N | Congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs144970453 RCV000402569 CA6990232 |
247 | K>E | ALG11-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs754909956 CA6990119 |
2 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1593906193 CA388026518 |
4 | N>S | No |
ClinGen Ensembl |
|
|
rs1370962592 CA388026534 |
5 | Q>R | No |
ClinGen gnomAD |
|
|
CA6990120 rs778883590 |
6 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1593906199 CA388026574 |
6 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 8 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs180848215 CA6990121 |
8 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388026642 rs1334924465 |
9 | N>S | No |
ClinGen TOPMed |
|
|
CA388026720 rs1344808372 |
12 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel rs951962059 CA250068383 |
15 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
rs771525145 CA6990122 |
17 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs746660464 CA388026830 |
18 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746660464 CA388026831 |
18 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990124 rs746660464 |
18 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79281620 CA250068395 |
20 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs79281620 CA6990125 |
20 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1318825286 CA388026895 |
22 | P>L | No |
ClinGen TOPMed |
|
|
rs1318825286 CA388026890 |
22 | P>Q | No |
ClinGen TOPMed |
|
|
rs906241379 CA250068405 |
22 | P>S | No |
ClinGen Ensembl |
|
|
rs778691415 CA250068427 |
24 | N>K | No |
ClinGen TOPMed gnomAD |
|
| rs769669893 | 24 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763477592 CA6990128 |
26 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195876563 CA388026951 |
27 | L>V | No |
ClinGen gnomAD |
|
|
rs775045600 CA6990130 |
28 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1168666320 CA388026984 |
29 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 30 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388027025 rs1566710807 |
31 | E>V | No |
ClinGen Ensembl |
|
|
rs373793959 CA388027058 |
32 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1403642628 CA388027089 |
34 | G>R | No |
ClinGen TOPMed |
|
|
rs1303547685 CA388027102 |
35 | D>N | No |
ClinGen gnomAD |
|
|
rs1279504312 CA388027236 |
40 | R>T | No |
ClinGen gnomAD |
|
|
CA388027348 rs1213609528 |
44 | K>E | No |
ClinGen gnomAD |
|
|
rs1464700565 CA388027369 |
44 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 44 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202151562 CA6990136 |
49 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6990139 rs145476266 |
58 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs113815469 CA250068499 |
60 | L>W | No |
ClinGen TOPMed |
|
|
CA6990140 rs752664420 |
63 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1184994900 CA388027873 |
65 | E>V | No |
ClinGen gnomAD |
|
|
rs1416156200 CA388027908 |
66 | A>V | No |
ClinGen gnomAD |
|
|
rs777158372 CA6990142 |
70 | V>M | No |
ClinGen ExAC |
|
|
rs1445493275 CA388028054 |
71 | S>P | No |
ClinGen gnomAD |
|
|
rs746602020 CA6990143 |
72 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA250068503 rs1026544488 |
73 | F>L | No |
ClinGen Ensembl |
|
|
rs1593906353 CA388028097 |
73 | F>V | No |
ClinGen Ensembl |
|
| TCGA novel | 78 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770484989 CA6990144 |
82 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA388028506 rs3742289 |
85 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1218795600 CA388028502 |
85 | G>C | No |
ClinGen TOPMed |
|
|
rs749647219 CA6990146 |
88 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA250068518 rs1009033266 |
90 | L>F | No |
ClinGen Ensembl |
|
|
rs774951619 CA6990148 |
92 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA6990147 rs769181279 |
92 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773161086 CA6990151 |
94 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242937143 CA388028840 |
95 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1033415754 CA250068538 |
100 | A>S | No |
ClinGen TOPMed |
|
|
CA388029102 rs1239318358 |
101 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 106 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566711222 CA388029220 |
107 | N>H | No |
ClinGen Ensembl |
|
|
CA388029235 rs1461917596 |
107 | N>K | No |
ClinGen gnomAD |
|
|
CA250068543 rs112296836 |
107 | N>S | No |
ClinGen Ensembl |
|
|
rs149348593 CA6990156 |
108 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 109 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388029336 rs1408555356 |
111 | S>L | No |
ClinGen gnomAD |
|
|
rs752620528 CA6990159 |
112 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758269841 CA6990160 |
114 | V>L | No |
ClinGen ExAC |
|
|
CA6990161 rs764154730 |
115 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388029469 rs1346817371 |
118 | P>T | No |
ClinGen TOPMed |
|
|
rs1280527385 CA388029532 |
121 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 122 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388029591 rs1350538615 |
124 | I>M | No |
ClinGen gnomAD |
|
|
CA250068573 rs201380604 |
126 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6990164 rs780959857 |
127 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990165 rs745544183 |
130 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA388029636 rs1263327045 |
131 | V>I | No |
ClinGen gnomAD |
|
|
CA6990167 rs779425936 |
134 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs748613606 CA6990168 |
135 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs773822260 CA6990171 |
142 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6990172 rs747032521 |
143 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA6990175 rs771034014 |
146 | I>N | No |
ClinGen ExAC |
|
|
CA388029741 rs1286865169 |
146 | I>V | No |
ClinGen gnomAD |
|
|
CA6990177 rs759764724 |
150 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA250068667 rs1054904693 |
151 | Q>* | No |
ClinGen Ensembl |
|
|
CA388029849 rs764940720 |
151 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388029892 rs1593906607 |
153 | A>V | No |
ClinGen Ensembl |
|
|
rs775139091 CA6990179 |
154 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6990180 rs762863800 |
155 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1046534683 CA250068690 |
156 | L>P | No |
ClinGen TOPMed |
|
|
CA388029966 rs1593906620 |
157 | V>L | No |
ClinGen Ensembl |
|
|
rs1346698194 CA388029995 |
158 | F>S | No |
ClinGen gnomAD |
|
|
CA6990182 rs201936279 |
159 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388030016 rs1481435733 |
159 | P>L | No |
ClinGen gnomAD |
|
|
COSM1706790 CA250068717 rs201936279 |
159 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA388030043 rs1593906649 |
160 | L>R | No |
ClinGen Ensembl |
|
|
CA388030065 rs1196647252 |
161 | G>V | No |
ClinGen gnomAD |
|
|
CA250068719 rs993337691 |
162 | K>N | No |
ClinGen TOPMed |
|
|
CA388030086 rs1259553954 |
163 | E>* | No |
ClinGen TOPMed |
|
|
rs376360056 CA6990184 |
164 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs886650836 CA250068720 |
164 | Q>L | No |
ClinGen gnomAD |
|
|
CA388030122 rs886650836 |
164 | Q>R | No |
ClinGen gnomAD |
|
|
CA6990185 rs750031363 |
165 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 165 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA250068731 rs113030884 |
165 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA250068740 rs1040934079 |
167 | I>T | No |
ClinGen Ensembl |
|
|
rs1451900020 CA388030167 |
167 | I>V | No |
ClinGen gnomAD |
|
|
CA388030190 rs1253964976 |
169 | P>A | No |
ClinGen TOPMed |
|
|
CA388030204 rs148529191 |
169 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6990186 rs148529191 |
169 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs73184339 CA388030210 |
170 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs996647421 CA250068768 |
170 | I>T | No |
ClinGen gnomAD |
|
|
rs1566711702 CA388030233 |
171 | E>K | No |
ClinGen Ensembl |
|
|
rs748442937 CA6990188 |
172 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA6990189 rs748442937 |
172 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1401193223 CA388030263 |
172 | H>Y | No |
ClinGen gnomAD |
|
|
rs1396215710 CA388030309 |
173 | A>S | No |
ClinGen gnomAD |
|
|
rs373225319 CA6990191 |
173 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6990193 rs776693469 |
174 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA388030381 rs1281421588 |
176 | G>A | No |
ClinGen gnomAD |
|
|
CA6990194 rs746011351 |
176 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6990196 rs769986936 |
178 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 178 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775830008 CA6990197 |
180 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA388030598 rs1355243867 |
181 | T>A | No |
ClinGen TOPMed |
|
|
rs1593906750 CA388030623 |
181 | T>N | No |
ClinGen Ensembl |
|
|
CA6990202 rs367594824 |
185 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221718990 CA388030817 |
186 | E>D | No |
ClinGen gnomAD |
|
|
CA6990203 rs767631702 |
186 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200048072 CA6990204 |
187 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1020247153 CA250068827 |
190 | L>F | No |
ClinGen Ensembl |
|
|
rs760311283 CA6990205 |
190 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1334803609 CA388031034 |
191 | L>P | No |
ClinGen gnomAD |
|
|
CA388031075 rs1193277138 |
193 | K>E | No |
ClinGen gnomAD |
|
|
CA6990206 rs765920315 |
193 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990207 rs753562160 |
194 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593906806 CA388031160 |
196 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 201 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 201 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778216187 CA6990209 |
202 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1424563806 CA388031390 |
204 | T>I | No |
ClinGen gnomAD |
|
|
rs1424563806 CA388031392 |
204 | T>N | No |
ClinGen gnomAD |
|
|
CA6990210 rs751993286 |
205 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388031421 rs1253993843 |
206 | M>V | No |
ClinGen TOPMed |
|
|
rs781704785 CA6990214 |
209 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs781704785 CA388031490 |
209 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs781704785 CA6990213 |
209 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1486060592 CA388031502 |
210 | S>F | No |
ClinGen TOPMed |
|
|
CA388031522 rs1593906843 |
211 | L>P | No |
ClinGen Ensembl |
|
|
CA250068889 rs1054778 |
212 | Q>R | No |
ClinGen Ensembl |
|
|
rs769956185 CA6990215 |
214 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs761553139 CA250068936 |
218 | E>Q | No |
ClinGen Ensembl |
|
|
rs780096946 CA6990216 |
221 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs749546864 CA6990217 |
222 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs140869647 CA6990218 |
223 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6990219 rs371682766 |
223 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388031795 rs1172576342 |
224 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 226 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388031879 rs1260468124 |
228 | R>G | No |
ClinGen gnomAD |
|
|
rs200336699 CA6990221 |
228 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772114734 CA6990222 |
229 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147874976 CA6990225 |
230 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6990224 rs373183639 |
230 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1454785768 CA388031948 |
231 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 231 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753376749 CA6990226 |
233 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA250069084 rs930382471 |
234 | S>A | No |
ClinGen Ensembl |
|
|
rs141504171 CA6990227 |
235 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA250069088 rs949377542 |
235 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA388032065 rs1337717358 |
237 | E>K | No |
ClinGen gnomAD |
|
|
CA388032092 rs1382314037 |
238 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA388032132 rs1451567563 |
239 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 239 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6990228 rs764862036 |
240 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs751903518 CA6990229 |
241 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990230 rs375893374 |
241 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1054780 CA250069121 |
242 | K>R | No |
ClinGen Ensembl |
|
|
CA388032293 rs1566712282 |
246 | I>M | No |
ClinGen Ensembl |
|
|
CA6990233 rs750959888 |
247 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1566712307 CA388032327 |
248 | S>R | No |
ClinGen Ensembl |
|
|
CA388032339 rs1182082483 |
249 | K>E | No |
ClinGen gnomAD |
|
|
rs1253144106 CA388032355 |
250 | K>E | No |
ClinGen gnomAD |
|
|
CA6990235 rs535940779 |
251 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 252 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs187088528 CA6990236 |
253 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6990238 rs768912274 |
254 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6990239 rs779326762 |
255 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575617334 CA6990240 |
256 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388032496 rs1355665659 |
258 | G>A | No |
ClinGen TOPMed |
|
|
rs202225436 CA250069178 |
259 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202225436 CA6990241 |
259 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs944928699 CA250069181 |
263 | A>V | No |
ClinGen gnomAD |
|
|
rs760676899 CA6990243 |
265 | K>E | No |
ClinGen ExAC |
|
|
rs930042253 CA250069208 |
266 | E>D | No |
ClinGen TOPMed |
|
|
CA388032643 rs1348566160 |
267 | F>S | No |
ClinGen gnomAD |
|
|
rs776197728 CA6990245 |
267 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1297400765 CA388032672 |
269 | Q>E | No |
ClinGen TOPMed |
|
|
CA6990249 rs775162593 |
271 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990248 rs775162593 |
271 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481202148 CA388032708 |
272 | K>Q | No |
ClinGen gnomAD |
|
|
CA388032742 rs1248963916 |
274 | N>S | No |
ClinGen gnomAD |
|
|
rs996331298 CA250069241 |
275 | P>A | No |
ClinGen TOPMed |
|
|
CA388032766 rs1299822956 |
276 | T>S | No |
ClinGen TOPMed |
|
|
CA388032792 rs3742291 |
279 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1200180939 CA388032804 |
280 | E>K | No |
ClinGen gnomAD |
|
|
CA250069260 rs893185674 |
281 | E>G | No |
ClinGen Ensembl |
|
|
rs1166559531 CA388032851 |
282 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 284 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 285 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755054488 CA6990255 |
285 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs200420699 CA250069272 |
285 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200420699 CA6990254 |
285 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990253 rs766856067 |
285 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs201237374 CA6990256 |
286 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA250069291 rs748408453 |
287 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA250069292 rs971393349 |
287 | N>K | No |
ClinGen Ensembl |
|
|
CA6990257 rs748408453 |
287 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 290 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6990259 rs779303076 |
290 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265284264 CA388032965 |
291 | M>I | No |
ClinGen TOPMed |
|
|
CA6990260 rs746842617 |
294 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 296 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388033058 rs1303199752 |
296 | L>V | No |
ClinGen gnomAD |
|
|
rs1217111042 CA388033089 |
297 | K>N | No |
ClinGen gnomAD |
|
|
rs776477871 CA6990263 |
299 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149660675 CA6990265 |
300 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 300 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6990264 rs149660675 |
300 | N>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388033216 rs1303736673 |
302 | G>R | No |
ClinGen TOPMed |
|
|
CA250069330 rs1034913485 |
303 | K>R | No |
ClinGen TOPMed |
|
|
CA388033287 rs1328864561 |
304 | W>* | No |
ClinGen TOPMed |
|
|
CA388033308 rs775074695 |
305 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs775074695 CA6990266 |
305 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs745478124 CA6990267 |
306 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388033330 rs1268258037 |
306 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1268258037 CA388033326 |
306 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA388033371 rs1188367531 |
307 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA388033394 rs1188367531 |
307 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773554796 CA6990269 |
308 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs373536912 CA6990270 |
310 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6990271 rs766878374 |
311 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990273 rs755041180 |
315 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990274 rs200258876 |
316 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376414131 CA6990276 |
319 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs17402034 VAR_051482 CA6990277 |
319 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA388033742 rs1381339521 |
320 | Q>K | No |
ClinGen gnomAD |
|
|
rs1295826659 CA388033778 |
321 | A>V | No |
ClinGen gnomAD |
|
|
CA6990279 rs757038034 |
322 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388033786 rs1362108159 |
322 | M>V | No |
ClinGen gnomAD |
|
|
rs1291611482 CA388033832 |
323 | Q>R | No |
ClinGen gnomAD |
|
|
CA388033851 rs1320460348 |
324 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs745814815 CA6990281 |
325 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140297533 CA250069418 |
326 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388033892 rs1485648400 |
326 | L>S | No |
ClinGen gnomAD |
|
|
CA6990283 rs543916198 |
329 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1349288845 CA388034073 |
334 | Q>E | No |
ClinGen TOPMed |
|
|
rs370282802 TCGA novel CA6990287 |
334 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1349288845 CA388034071 |
334 | Q>K | No |
ClinGen TOPMed |
|
|
CA6990290 rs532658535 |
338 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388034220 rs532658535 |
338 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6990291 rs760127347 |
339 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779360879 CA6990292 |
341 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA388034350 rs1566712997 |
342 | S>G | No |
ClinGen Ensembl |
|
|
rs145307359 CA6990293 |
342 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763172724 CA6990294 |
342 | S>R | No |
ClinGen ExAC |
|
|
rs764376673 CA6990295 |
343 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388034393 rs1377571263 |
343 | E>K | No |
ClinGen gnomAD |
|
|
CA388034412 rs1180669835 |
344 | E>* | No |
ClinGen TOPMed |
|
|
CA6990297 rs751757257 |
344 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs200304247 CA6990298 COSM3688747 |
346 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6990299 rs750306041 |
349 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388034555 rs750306041 |
349 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 351 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 352 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA250069523 rs932231505 |
352 | E>Q | No |
ClinGen Ensembl |
|
| rs758604982 | 355 | L>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183928795 CA388034674 |
356 | V>I | No |
ClinGen gnomAD |
|
|
CA6990302 rs146487429 |
357 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6990303 rs146487429 |
357 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146487429 CA388034706 |
357 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388034719 rs1178935490 |
358 | H>L | No |
ClinGen gnomAD |
|
|
rs1178935490 CA388034720 |
358 | H>R | No |
ClinGen gnomAD |
|
|
rs768185974 CA6990304 |
358 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778580124 CA6990305 |
359 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs368084062 CA6990306 |
360 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388034783 rs1407786390 |
361 | N>K | No |
ClinGen gnomAD |
|
|
CA388034819 rs1470028656 |
363 | V>A | No |
ClinGen gnomAD |
|
|
rs982147063 CA250069583 |
366 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6990309 rs373916712 |
369 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388034978 rs1373260811 |
370 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA388034976 rs1373260811 |
370 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA250069597 rs1041758997 |
373 | W>* | No |
ClinGen TOPMed |
|
|
CA250069603 rs199882771 |
374 | M>I | No |
ClinGen 1000Genomes |
|
|
rs776176401 CA6990311 |
374 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1324501852 CA388035142 |
377 | S>G | No |
ClinGen gnomAD |
|
|
COSM416339 CA388035219 rs1203328833 |
380 | S>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs573479454 CA250069619 |
381 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1002838754 CA250069646 |
382 | T>I | No |
ClinGen Ensembl |
|
|
CA6990312 rs763084819 |
382 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990313 rs764099573 |
383 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs537282217 CA250069655 |
385 | A>T | No |
ClinGen 1000Genomes |
|
|
CA388035392 rs761946323 |
388 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990315 rs761946323 |
388 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388035424 rs1377576341 |
390 | D>E | No |
ClinGen TOPMed |
|
|
rs1179337866 CA388035413 |
390 | D>N | No |
ClinGen gnomAD |
|
|
rs750198457 CA6990317 |
391 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs368642577 CA6990316 |
391 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388035439 rs1171697974 |
392 | E>Q | No |
ClinGen gnomAD |
|
|
CA6990319 rs779928686 |
395 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6990321 rs754431054 |
396 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1335121627 CA388035514 |
397 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6990323 rs747764840 |
398 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA388035558 rs1566713340 |
401 | E>K | No |
ClinGen Ensembl |
|
|
CA388035583 rs1346293348 |
403 | S>A | No |
ClinGen gnomAD |
|
|
CA250069673 rs941883374 |
405 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA388035604 rs941883374 |
405 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6990324 rs771614925 |
405 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1341755406 CA388037418 |
407 | A>E | No |
ClinGen gnomAD |
|
|
CA388037433 rs201263625 |
408 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs201263625 CA6990325 |
408 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6990327 rs746199287 |
410 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA250069700 rs372361073 |
412 | V>M | No |
ClinGen ESP TOPMed |
|
|
rs1306286377 CA388037603 |
415 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 416 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 416 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771366804 CA250069705 |
421 | E>Q | No |
ClinGen TOPMed |
|
|
CA250069721 rs28576145 |
428 | L>P | No |
ClinGen Ensembl |
|
|
rs1389999366 CA388037848 |
429 | R>S | No |
ClinGen gnomAD |
|
|
rs770311915 CA6990331 |
432 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA388037883 rs368412759 |
432 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6990332 rs368412759 |
432 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1740038 CA388037890 rs1386227897 |
433 | E>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6990333 rs749825159 |
434 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs542071901 CA250069757 |
435 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs768712384 CA6990334 |
435 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6990337 CA6990336 rs148269361 |
436 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774289835 CA6990335 |
436 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA388037957 rs1226083970 |
437 | D>G | No |
ClinGen gnomAD |
|
|
rs553729135 CA250069766 |
438 | A>D | No |
ClinGen Ensembl |
|
|
rs202033830 CA250069776 |
439 | E>G | No |
ClinGen 1000Genomes |
|
|
rs773454637 CA6990338 |
439 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388038008 rs1387952826 |
440 | P>S | No |
ClinGen TOPMed |
|
|
CA388038031 rs1360096715 |
441 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA388038033 rs1360096715 |
441 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388038168 rs1566713592 |
447 | K>N | No |
ClinGen Ensembl |
|
|
CA6990339 rs760414709 |
448 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs902167227 CA250069782 |
449 | S>C | No |
ClinGen TOPMed |
|
|
rs199839315 CA6990341 |
450 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388038228 rs1193525395 |
450 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs11538094 CA250069799 CA250069803 |
453 | E>D | No |
ClinGen gnomAD |
|
|
CA388038273 rs1241003805 |
453 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6990343 rs538736846 |
453 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388038298 rs765281662 |
454 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765281662 CA6990344 |
454 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388038331 rs1566713670 |
456 | S>A | No |
ClinGen Ensembl |
|
|
COSM50391 rs1161503934 CA388038348 |
457 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6990348 rs777246553 |
458 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs746679389 CA6990350 |
460 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1432568596 CA388038434 |
461 | L>P | No |
ClinGen gnomAD |
|
|
CA6990353 rs201144846 COSM1367447 |
462 | S>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1236715707 CA388038495 |
464 | K>N | No |
ClinGen TOPMed |
|
|
rs1260884272 CA388038515 |
465 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6990355 rs774962929 |
465 | L>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs147037645 CA250069955 |
467 | E>D | No |
ClinGen 1000Genomes |
|
|
rs150406131 CA6990356 |
467 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772218474 CA6990359 |
469 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175149925 CA388038602 |
469 | H>Q | No |
ClinGen TOPMed |
|
|
rs772218474 CA6990358 |
469 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463288811 CA388038608 |
470 | Q>K | No |
ClinGen gnomAD |
|
|
CA6990360 rs56058260 |
471 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs56058260 CA250069993 |
471 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA388038648 rs1244175835 |
472 | R>G | No |
ClinGen gnomAD |
|
| rs1414730494 | 476 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423719615 CA388038738 |
476 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 478 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 479 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA250069996 rs1012418303 |
483 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA388038868 rs1189015168 |
483 | P>R | No |
ClinGen TOPMed |
|
|
rs1158540969 CA388038938 |
486 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 488 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA250070003 rs1023805672 |
488 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA388038977 rs1471100093 |
488 | E>V | No |
ClinGen gnomAD |
|
|
CA6990361 rs766656609 |
490 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA388039028 rs759428238 |
491 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs759428238 CA6990363 |
491 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs774605466 CA250070035 |
492 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs752706767 CA6990365 |
494 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1228418153 CA388039109 |
495 | A>T | No |
ClinGen gnomAD |
|
|
CA6990366 rs757795523 |
495 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313068616 CA388039168 |
497 | P>L | No |
ClinGen TOPMed |
|
|
CA6990368 rs751188952 |
499 | L>F | No |
ClinGen ExAC |
|
|
rs1289557771 CA388039272 |
502 | R>T | No |
ClinGen TOPMed |
|
|
CA6990372 rs755403011 |
503 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA388039349 rs779240213 |
506 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779240213 CA6990373 |
506 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 509 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6990377 rs777829785 |
510 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990379 rs138251658 |
513 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6990378 rs747152217 |
513 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6990380 rs776882143 |
514 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1296364979 CA388039535 |
514 | E>Q | No |
ClinGen gnomAD |
|
|
CA6990382 rs759208137 |
519 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1412005001 CA388039750 |
522 | Q>* | No |
ClinGen TOPMed |
|
|
rs375214627 CA6990384 |
527 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6990386 rs764192896 |
528 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs143914311 CA6990387 |
529 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6990388 rs534602050 |
531 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6990389 rs767239435 |
532 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs369650117 CA6990391 |
534 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388040159 rs974583940 |
535 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA388040210 rs1173660049 |
538 | R>K | No |
ClinGen gnomAD |
|
|
CA250070129 rs56067418 |
539 | T>P | No |
ClinGen Ensembl |
|
|
rs779341439 CA6990393 |
541 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs753072244 CA6990394 |
542 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs372412800 CA388040388 |
543 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372412800 CA6990396 |
543 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990395 COSM696420 rs758895772 |
543 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA388040408 rs1593907859 |
544 | P>R | No |
ClinGen Ensembl |
|
|
rs1315418684 CA388040422 |
545 | D>N | No |
ClinGen TOPMed |
|
|
rs1366423199 CA388040466 |
546 | A>D | No |
ClinGen gnomAD |
|
|
CA6990397 rs747064031 |
546 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1366423199 CA388040473 |
546 | A>V | No |
ClinGen gnomAD |
|
|
CA6990398 rs138307740 |
547 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781218386 CA6990400 |
548 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs112621623 CA250070156 |
549 | E>K | No |
ClinGen Ensembl |
|
|
CA6990402 rs769405540 |
550 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388040692 CA388040689 rs1362246825 |
552 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 552 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388040822 rs1264978590 |
556 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA388040868 rs1188565493 |
558 | N>K | No |
ClinGen gnomAD |
|
|
rs1249657775 CA388040906 |
560 | Q>R | No |
ClinGen gnomAD |
|
|
CA6990403 rs775349568 |
561 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6990404 rs762712549 |
561 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA6990405 rs768692630 |
564 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319384632 CA388041004 |
564 | T>N | No |
ClinGen TOPMed |
|
|
CA388041055 rs1455177536 |
566 | Q>* | No |
ClinGen TOPMed |
|
|
CA388041061 rs1419957226 |
566 | Q>R | No |
ClinGen TOPMed |
|
|
CA6990406 rs774469168 |
568 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs144854745 CA6990409 COSM3688748 |
570 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs77339766 CA388041194 |
571 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs77339766 CA6990411 |
571 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766008078 CA6990412 |
572 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990415 rs778217228 |
576 | P>L | No |
ClinGen ExAC |
|
|
rs562055329 CA6990414 |
576 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562055329 CA6990413 |
576 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343857167 CA388041314 |
577 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1246112102 CA388041340 |
578 | I>L | No |
ClinGen TOPMed |
|
|
rs752079420 CA6990416 |
578 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1246112102 CA388041337 |
578 | I>V | No |
ClinGen TOPMed |
|
|
rs1229446394 CA388041358 |
579 | I>L | No |
ClinGen gnomAD |
|
|
rs142957523 CA6990418 |
579 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6990417 rs757265468 |
579 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs745998462 CA6990419 |
580 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990420 rs756344755 |
584 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6990421 rs780186785 |
585 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA388041606 rs1365550809 |
590 | Q>E | No |
ClinGen TOPMed |
|
|
rs1182437727 CA388041677 |
594 | I>L | No |
ClinGen gnomAD |
|
|
rs1412979352 CA388041685 |
594 | I>T | No |
ClinGen gnomAD |
|
|
rs764200705 CA250070192 |
595 | K>E | No |
ClinGen Ensembl |
|
|
CA6990423 rs749058828 |
595 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs906718066 CA250070194 |
596 | E>A | No |
ClinGen TOPMed |
|
|
CA388041706 rs1160772577 |
596 | E>K | No |
ClinGen gnomAD |
|
|
CA6990424 rs768602817 |
597 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA6990425 rs577230605 |
601 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6990426 rs748102129 |
602 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449391474 CA388041820 |
604 | I>F | No |
ClinGen gnomAD |
|
|
CA6990430 rs766027465 |
606 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs559486838 CA388041853 |
606 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546283537 CA6990428 |
606 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559486838 CA6990429 |
606 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546283537 CA6990427 |
606 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1289103722 CA388041870 |
607 | F>S | No |
ClinGen gnomAD |
|
|
rs1226853300 CA388041883 |
608 | L>F | No |
ClinGen gnomAD |
|
|
CA250070222 rs111387351 |
611 | K>E | No |
ClinGen Ensembl |
|
|
rs776182925 CA6990433 |
611 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs376437217 CA6990434 |
613 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372672663 CA6990435 |
614 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1025911336 CA250070228 |
615 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6990438 rs546716607 |
617 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388042126 rs1426836405 |
620 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA388042123 rs1426836405 |
620 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6990441 rs780282369 |
623 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754753792 CA6990443 |
624 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs749535690 CA6990442 |
624 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758475201 CA6990444 |
627 | L>* | No |
ClinGen ExAC TOPMed |
|
|
rs748016111 CA6990446 |
627 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990448 rs773066719 |
628 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs772026510 CA6990447 |
628 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA388042312 rs1430169077 |
630 | W>* | No |
ClinGen TOPMed |
|
|
rs1310345003 CA388042298 |
630 | W>R | No |
ClinGen gnomAD |
|
|
rs770374423 CA6990450 COSM1232144 |
632 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA388042368 rs1168218677 |
633 | W>* | No |
ClinGen TOPMed |
|
|
CA388042350 rs1251904971 |
633 | W>R | No |
ClinGen gnomAD |
|
|
rs1482405477 CA388042361 |
633 | W>S | No |
ClinGen gnomAD |
|
|
rs1179410292 CA388042384 |
634 | G>D | No |
ClinGen gnomAD |
|
|
CA388042444 rs776204371 |
637 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6990452 rs776204371 |
637 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA388042455 rs1423574605 |
638 | L>P | No |
ClinGen gnomAD |
|
|
CA388042489 rs1169704263 |
640 | P>A | No |
ClinGen gnomAD |
|
|
rs1593908179 CA388042557 |
643 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 644 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA250070304 rs759190119 |
645 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265890467 CA388042614 |
645 | R>K | No |
ClinGen TOPMed |
|
|
rs764932517 CA6990454 |
646 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA388042635 rs1325643858 |
646 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA388042706 rs1274433780 |
649 | L>V | No |
ClinGen TOPMed |
|
|
CA6990456 rs139046238 |
652 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6990457 rs768035716 |
653 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1346767363 CA388042778 |
655 | G>C | No |
ClinGen TOPMed |
|
|
CA6990458 rs750924224 |
655 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 656 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6990460 rs766374329 |
656 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756169270 CA6990459 |
656 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6990461 rs754040179 |
657 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341396775 CA388042798 |
657 | P>S | No |
ClinGen gnomAD |
|
|
rs755239347 CA6990463 |
660 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566714767 CA388042834 |
660 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 660 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566714781 CA388042849 |
661 | K>E | No |
ClinGen Ensembl |
|
|
rs1197801934 CA388042862 |
661 | K>N | No |
ClinGen gnomAD |
|
|
rs1290168300 CA388042854 |
661 | K>T | No |
ClinGen TOPMed |
|
|
CA6990465 rs562071993 |
663 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388042892 rs1451652884 |
664 | P>R | No |
ClinGen gnomAD |
|
|
CA388042904 rs1189633328 |
665 | N>S | No |
ClinGen gnomAD |
|
|
CA388042922 rs1390054010 |
666 | V>A | No |
ClinGen gnomAD |
|
|
CA250070334 rs530974224 |
668 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs879203981 CA250070337 |
669 | S>N | No |
ClinGen Ensembl |
|
|
rs758161781 CA6990468 |
671 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990469 rs370985603 |
672 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6990470 rs550720657 |
672 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770403618 CA6990471 |
673 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990473 rs745438534 |
674 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA250070356 rs1053490230 |
675 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs769412664 CA6990474 |
676 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA250070357 rs914877495 |
676 | A>V | No |
ClinGen TOPMed |
|
|
CA6990475 rs775162408 |
679 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA388043042 rs762196882 |
681 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6990476 rs762196882 |
681 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA388043048 rs1161435439 |
682 | Q>* | No |
ClinGen TOPMed |
|
|
CA6990477 rs772344954 |
682 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs772344954 CA250070394 |
682 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1473227508 COSM948019 CA388043057 |
683 | V>A | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA388043053 rs1209716002 |
683 | V>M | No |
ClinGen gnomAD |
|
|
CA250070398 rs201892602 |
684 | L>P | No |
ClinGen 1000Genomes |
|
|
COSM324229 CA250070399 rs201147529 |
688 | F>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
|
rs375499099 CA6990479 |
689 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs144069648 CA6990480 |
691 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6990483 rs765519829 |
692 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753947756 CA6990482 |
692 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs752993947 CA6990484 |
694 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1365430164 CA388043139 |
696 | R>K | No |
ClinGen gnomAD |
|
|
CA388043149 rs1423368301 |
697 | T>I | No |
ClinGen gnomAD |
|
|
rs1391058593 CA388043158 |
699 | Q>* | No |
ClinGen gnomAD |
|
|
CA6990485 rs758158186 |
700 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA388043177 rs1387711304 |
702 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1342284511 CA388043217 |
707 | N>K | No |
ClinGen TOPMed |
|
|
rs751435110 CA6990487 |
708 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6990488 rs757125766 |
709 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs781153694 CA6990489 |
710 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA250070421 rs781153694 |
710 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243378906 CA388043239 |
711 | A>G | No |
ClinGen gnomAD |
|
|
rs1290943522 CA388043258 |
714 | K>E | No |
ClinGen gnomAD |
|
|
rs372690393 CA250070426 |
714 | K>N | No |
ClinGen ESP |
|
|
rs1350588666 CA388043280 |
717 | T>I | No |
ClinGen gnomAD |
|
|
rs1593908362 CA388043276 |
717 | T>P | No |
ClinGen Ensembl |
|
|
CA6990490 rs745348927 |
718 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA388043289 rs1463773704 |
719 | K>R | No |
ClinGen gnomAD |
|
|
rs906249031 CA250070435 |
721 | V>D | No |
ClinGen TOPMed |
|
|
CA6990491 rs769324615 |
721 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374512750 CA6990492 |
722 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374512750 CA388043305 |
722 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs189674175 CA6990493 |
723 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 723 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868196244 CA250070445 |
723 | K>R | No |
ClinGen Ensembl |
|
|
CA388043316 rs1414347839 |
724 | P>S | No |
ClinGen gnomAD |
|
|
CA250070448 rs1003717136 |
728 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA388043343 rs1003717136 |
728 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1451290284 CA388043378 |
731 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1451290284 CA388043381 |
731 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs182898249 CA6990496 |
732 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565521703 CA6990497 |
733 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771536317 CA6990498 |
735 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA388043476 rs1593908430 |
736 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 736 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388043465 rs1566715159 |
736 | V>M | No |
ClinGen Ensembl |
|
|
CA6990499 rs777312229 |
737 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs141049018 RCV000856586 CA6990500 |
738 | Y>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA388043502 rs1314789111 |
738 | Y>C | No |
ClinGen gnomAD |
|
|
CA6990501 rs199516732 |
739 | Q>* | No |
ClinGen 1000Genomes ExAC |
|
|
CA6990502 rs775711132 |
739 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990503 rs775711132 |
739 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388043541 rs1375823081 |
741 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs764432307 CA6990504 |
741 | S>F | No |
ClinGen ExAC |
|
|
rs1344900402 CA388043566 |
742 | S>* | No |
ClinGen gnomAD |
|
|
rs1254069784 CA388043579 |
743 | R>K | No |
ClinGen gnomAD |
|
|
CA6990506 rs757113154 |
745 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1483387212 CA388043612 |
745 | D>N | No |
ClinGen gnomAD |
|
|
CA250070503 rs1016962174 |
750 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA250070507 rs964406657 |
751 | R>T | No |
ClinGen TOPMed |
|
|
rs1309799773 CA388043722 |
752 | N>D | No |
ClinGen gnomAD |
|
|
CA6990509 rs755562765 |
753 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs201468648 CA6990510 |
755 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs996771688 CA388043769 |
755 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs996771688 CA250070517 |
755 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1171608343 CA388043781 |
756 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748887500 CA6990511 |
757 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6990513 rs367799665 |
758 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6990512 rs367799665 |
758 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747293991 CA6990514 |
759 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs149714218 CA6990515 |
759 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388043822 rs1435911236 |
760 | H>N | No |
ClinGen TOPMed |
|
|
rs1302400768 CA388043840 |
761 | N>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 762 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1232564995 CA388043857 |
763 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1163102617 CA388043881 |
766 | L>R | No |
ClinGen TOPMed |
|
|
rs778876444 CA6990517 |
767 | L>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
No associated diseases with Q5TAP6
No regional properties for Q5TAP6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q5TAP6 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| small-subunit processome | A large ribonucleoprotein complex that is an early preribosomal complex. In S. cerevisiae, it has a size of 80S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| meiotic cell cycle | Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions. |
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNVNQVAENL | ALSHQEELVD | LPKNYPLSEN | EDEGDSDGER | KHQKLLEAII | SLDGKNRRKL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AERSEASLKV | SEFSVSSEGS | GEKLGLADLL | EPVKTSSSLA | TVKKQLNRVK | SKKVVELPLN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KEKIEQIHRE | VAFSKTSQVL | SKWDPIILKN | QQAEQLVFPL | GKEQPAIAPI | EHALSGWKAR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TPLEQEIFNL | LHKNKQPVTD | PLLTPMEKAS | LQAMSLEEAK | MHRAELQRAR | ALQSYYEAKA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RKEKKIKSKK | YHKVVKKGKA | KKALKEFEQL | QKVNPTVALE | EMEKIENARM | MERMSLKHQN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SGKWAKSKAI | MAKYDLEARQ | AMQEQLAKNK | ELTQKLQVAS | ESEEEEGGTE | VEELLVPHVA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NEVQMNVDGP | NPWMFRSCTS | DTKEAATQED | PEQVPELAAH | EVSASEAEER | PVAEEEILLR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EFEERQSLRK | RSELNQDAEP | ASSQETKDSS | SQEVLSELRA | LSQKLKEKHQ | SRKQKASSEG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TVPQVQREEP | APEEAEPLLL | QRSERVQTLE | ELEELGKEDC | FQNKELPRPV | LEGQQSERTP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NNRPDAPKEK | KEKEQLINLQ | NFLTTQSPSV | RSLAVPTIIE | ELEDEEERDQ | RQMIKEAFAG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DDVIRDFLKE | KREAVEASKP | KDVDLTLPGW | GEWGGVGLKP | SAKKRRQFLI | KAPEGPPRKD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KNLPNVIISE | KRNIHAAAHQ | VQVLPYPFTH | HRQFERTIQT | PIGSTWNTQR | AFQKLTTPKV |
| 730 | 740 | 750 | 760 | ||
| VTKPGHIIKP | IKAEDVGYQS | SSRSDLPVIQ | RNPKRITTRH | NKEEKL |