Q14156
PR
Gene name |
EFR3A |
Protein name |
Protein EFR3 homolog A |
Names |
Protein EFR3-like |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23167 |
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 Q14156
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q14156-F1 | Predicted | AlphaFoldDB |
706 variants for Q14156
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1004326925 CA185401859 |
2 | P>L | No |
ClinGen TOPMed |
|
|
CA185401856 rs896667001 |
2 | P>S | No |
ClinGen TOPMed |
|
|
CA372202471 rs896667001 |
2 | P>T | No |
ClinGen TOPMed |
|
|
CA372207654 rs1254973939 |
5 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1254973939 CA372207653 |
5 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4878638 rs747995721 |
7 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757620580 CA4878641 |
8 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs764647245 CA4878640 COSM1096141 |
8 | C>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs764647245 CA4878639 |
8 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1162504333 CA372207679 |
9 | C>Y | No |
ClinGen gnomAD |
|
|
rs754490414 CA4878645 |
11 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754490414 CA4878644 |
11 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747685013 CA4878646 |
11 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs771972805 CA4878647 |
13 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA372207702 rs1440887518 |
13 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA185417985 rs755358080 |
14 | P>L | No |
ClinGen Ensembl |
|
| VAR_075101 | 14 | P>R | No | UniProt | |
|
CA4878648 rs371388414 |
15 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA372207731 rs1288869604 |
16 | Y>C | No |
ClinGen Ensembl |
|
|
rs1374769626 CA372207725 |
16 | Y>H | No |
ClinGen gnomAD |
|
|
CA4878649 rs746826021 |
17 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4878650 rs374874843 |
17 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4878651 rs369257948 |
18 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372996175 CA4878652 |
18 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA372207755 rs1305439544 |
19 | L>R | No |
ClinGen gnomAD |
|
|
rs765420740 CA4878653 |
19 | L>V | No |
ClinGen ExAC |
|
|
CA372207770 rs1203980392 |
21 | D>G | No |
ClinGen gnomAD |
|
|
rs775488912 CA4878654 |
21 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs763082485 CA4878655 |
22 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372207791 rs1481617198 |
23 | I>L | No |
ClinGen gnomAD |
|
|
CA372207789 rs1481617198 |
23 | I>V | No |
ClinGen gnomAD |
|
|
CA4878656 rs764559759 |
24 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372207800 rs764559759 |
24 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372207818 rs1416913987 |
25 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs757649630 CA4878658 |
28 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs139437218 CA4878659 |
28 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372207870 rs1408848583 |
29 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 31 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1337134797 CA372208531 |
33 | V>L | No |
ClinGen TOPMed |
|
|
rs760999169 CA4878679 |
36 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA372208550 rs375503062 |
36 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4878678 rs375503062 |
36 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4878680 rs760999169 |
36 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA372208569 rs1446011924 |
37 | M>I | No |
ClinGen gnomAD |
|
|
rs757875404 CA4878682 |
37 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757875404 CA372208568 |
37 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs959471829 CA185420104 |
38 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA372208608 rs1439761811 |
39 | K>R | No |
ClinGen TOPMed |
|
|
CA4878684 rs192357671 |
40 | L>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1395008260 CA372208673 |
43 | Y>F | No |
ClinGen gnomAD |
|
|
rs1334745811 CA372208689 |
44 | A>V | No |
ClinGen TOPMed |
|
|
CA4878687 rs766500421 |
47 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_075102 | 50 | K>E | No | UniProt | |
|
CA4878688 rs769584711 COSM1096142 |
53 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA372208811 rs143933422 |
53 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143933422 CA4878689 COSM274944 |
53 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
VAR_075103 CA4878690 rs749463078 |
55 | G>C | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA372208837 rs1586579623 |
55 | G>D | No |
ClinGen Ensembl |
|
|
CA4878691 rs768632978 |
56 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA372208871 rs1236428988 |
57 | Y>* | No |
ClinGen gnomAD |
|
|
CA4878692 rs774551723 |
57 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1277511974 CA372208914 |
60 | E>G | No |
ClinGen gnomAD |
|
|
rs1287511775 CA372208993 |
65 | D>H | No |
ClinGen gnomAD |
|
|
CA4878694 rs146485355 |
68 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
VAR_075104 CA372209063 rs1212454955 |
70 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt NCI-TCGA dbSNP gnomAD |
|
CA372209069 rs1253102043 |
70 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA372209082 rs1019671910 |
71 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1019671910 CA185420175 |
71 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA372209090 rs1455048482 COSM396789 |
72 | G>E | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1469862321 CA372209087 |
72 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 73 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 74 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA185421034 rs770416311 |
75 | L>F | No |
ClinGen Ensembl |
|
|
CA372209226 rs1274411669 |
77 | A>S | No |
ClinGen TOPMed |
|
|
CA4878714 rs536114379 |
79 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4878715 rs771210555 |
80 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4878716 rs777110448 |
82 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA185421059 rs990812631 |
83 | Q>H | No |
ClinGen Ensembl |
|
|
rs1250277502 CA372209303 |
88 | C>F | No |
ClinGen gnomAD |
|
|
rs948647829 CA372209309 |
89 | H>P | No |
ClinGen Ensembl |
|
|
CA185421064 rs948647829 |
89 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 94 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312251221 CA372209364 |
97 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 99 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_075105 | 100 | F>L | No | UniProt | |
|
rs369963354 CA4878721 |
102 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372209409 rs1307088532 |
103 | M>T | No |
ClinGen TOPMed |
|
|
rs750401521 CA4878722 |
103 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 109 | E>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372209446 rs1373614605 |
109 | E>Q | No |
ClinGen gnomAD |
|
|
rs909688625 CA185421118 |
109 | E>V | No |
ClinGen gnomAD |
|
|
CA4878728 rs143085281 |
110 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4878727 rs143085281 |
110 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1380188144 CA372209462 |
111 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA372209461 rs1380188144 |
111 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1326472927 CA372209465 |
112 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1326472927 CA372209468 |
112 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4878730 rs777770587 |
112 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs747042864 CA4878731 |
113 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372209478 rs1378115628 |
113 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 114 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372209509 rs1346422861 |
116 | Q>E | No |
ClinGen gnomAD |
|
|
CA372209517 rs1210533079 |
116 | Q>H | No |
ClinGen gnomAD |
|
|
CA4878732 rs763063930 |
117 | V>I | No |
ClinGen ExAC gnomAD |
|
| VAR_075106 | 118 | L>P | No | UniProt | |
|
CA4878733 rs776970611 |
120 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 123 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323253445 VAR_075107 CA372210136 |
123 | F>L | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
rs1376950204 CA372210150 |
124 | V>A | No |
ClinGen gnomAD |
|
|
rs900742365 CA185423142 |
126 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4878757 rs749667555 |
130 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1364668849 CA372210223 |
131 | E>* | No |
ClinGen TOPMed |
|
|
rs561809850 CA4878758 |
132 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 132 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1222422229 CA372210248 |
133 | T>I | No |
ClinGen gnomAD |
|
|
CA372210262 rs1188769365 |
135 | S>A | No |
ClinGen Ensembl |
|
|
CA372210276 rs1330029624 |
136 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 137 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760259534 CA4878760 |
139 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4878761 rs770310962 |
139 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468069217 CA372210321 |
140 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 144 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372210362 rs1222477793 |
144 | V>L | No |
ClinGen gnomAD |
|
|
rs1479619177 CA372210376 |
145 | S>F | No |
ClinGen gnomAD |
|
|
rs1176351527 CA372210380 |
146 | R>* | No |
ClinGen gnomAD |
|
|
rs1251001426 CA372210384 |
146 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372210381 rs1251001426 |
146 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1464722493 CA372210397 |
147 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 147 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs529120545 CA185423176 |
149 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1377352652 CA372210461 |
153 | S>T | No |
ClinGen TOPMed |
|
|
CA4878762 rs776631284 |
155 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs776631284 CA372210481 |
155 | H>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 155 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4878765 rs752551899 |
159 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs762703497 CA4878766 |
160 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs764347591 CA4878767 |
161 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1291653738 COSM1454873 CA372210554 |
161 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA372211011 rs1240046828 |
163 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs751683502 CA4878769 |
163 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1474784988 CA372211012 |
164 | I>L | No |
ClinGen gnomAD |
|
|
rs1474784988 CA372211013 |
164 | I>V | No |
ClinGen gnomAD |
|
|
rs1586594754 CA372211035 |
167 | A>G | No |
ClinGen Ensembl |
|
|
CA4878792 rs763757314 |
169 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336376767 CA372211058 |
171 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761999814 CA4878794 |
171 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA185425338 rs868718974 |
174 | G>C | No |
ClinGen Ensembl |
|
|
rs767777438 CA372211078 |
174 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767777438 CA4878795 |
174 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185425339 rs146926073 |
177 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs374751461 CA4878796 |
177 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs11984595 CA372211123 |
181 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 182 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372211132 rs1162558965 |
183 | E>K | No |
ClinGen TOPMed |
|
|
CA4878799 rs754361137 |
185 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4878800 rs755402725 |
187 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4878801 rs376249711 |
188 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369535816 CA185425368 |
190 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA4878802 rs748529555 |
191 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA372211194 rs1249370441 |
192 | Q>H | No |
ClinGen gnomAD |
|
|
CA372211192 rs1208744961 |
192 | Q>R | No |
ClinGen gnomAD |
|
|
rs756923529 CA4878803 |
193 | H>R | No |
ClinGen ExAC gnomAD |
|
|
VAR_075108 CA4878804 rs780864616 |
194 | M>V | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs1377608390 CA372211211 |
195 | D>N | No |
ClinGen gnomAD |
|
|
rs1478553812 CA372211229 |
197 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs149106647 CA4878805 |
197 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1456932214 CA372211248 |
200 | S>Y | No |
ClinGen gnomAD |
|
|
rs1390883555 CA372211253 |
201 | L>F | No |
ClinGen gnomAD |
|
|
CA372211258 rs1438861622 |
202 | L>V | No |
ClinGen gnomAD |
|
|
rs749156712 CA4878808 CA185425391 |
203 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768626078 CA4878809 |
205 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372211296 rs1277567994 |
207 | K>R | No |
ClinGen gnomAD |
|
|
rs1332006895 CA372211306 |
208 | I>M | No |
ClinGen gnomAD |
|
|
CA372211301 rs1228658817 |
208 | I>V | No |
ClinGen gnomAD |
|
|
CA372211327 rs1267269405 |
211 | V>D | No |
ClinGen gnomAD |
|
|
rs1212589156 CA372211324 |
211 | V>I | No |
ClinGen gnomAD |
|
|
rs1452701634 CA372211344 |
213 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs910914365 CA185425392 |
213 | S>T | No |
ClinGen TOPMed |
|
|
CA4878831 rs774325452 |
214 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs146871009 CA4878833 |
214 | R>H | Variant assessed as Somatic; 4.636e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4878832 rs146871009 |
214 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372211425 rs1268926156 |
215 | I>L | No |
ClinGen gnomAD |
|
|
CA372211426 rs1268926156 |
215 | I>V | No |
ClinGen gnomAD |
|
|
rs1002377382 CA185426595 |
217 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA372211450 rs1484789494 |
217 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372211449 rs1484789494 |
217 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA185426602 rs1002377382 |
217 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1222328333 CA372211455 |
218 | P>S | No |
ClinGen TOPMed |
|
|
CA372211467 rs1325043916 |
219 | S>C | No |
ClinGen TOPMed |
|
|
CA4878838 rs766690879 |
219 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1450021374 CA372211496 |
221 | P>L | No |
ClinGen gnomAD |
|
|
rs776913839 CA4878840 |
222 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs753653319 | 222 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765709996 CA4878842 |
224 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4878846 rs753197169 |
226 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs138896182 CA4878847 |
226 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764374404 CA4878848 |
228 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 228 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372211632 rs1365040260 |
229 | N>S | No |
ClinGen gnomAD |
|
|
rs1300498787 CA372211644 |
230 | P>L | No |
ClinGen gnomAD |
|
|
rs199995597 CA4878849 |
230 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4878850 rs755832287 |
231 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs755832287 CA4878851 |
231 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA185426677 rs1043632499 |
232 | V>L | No |
ClinGen TOPMed |
|
|
CA4878852 rs753396595 |
238 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA372211807 rs1247520191 |
238 | F>L | No |
ClinGen gnomAD |
|
|
CA185426688 rs374531339 |
239 | R>* | No |
ClinGen ESP TOPMed |
|
|
CA372211878 rs1443956779 |
241 | L>P | No |
ClinGen TOPMed |
|
| VAR_075109 | 243 | G>A | No | UniProt | |
|
CA372211897 rs1393249919 |
243 | G>S | No |
ClinGen gnomAD |
|
|
rs1253579543 CA372211914 |
244 | R>* | No |
ClinGen TOPMed |
|
|
CA372211917 rs778749379 |
244 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778749379 CA4878854 |
244 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 244 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 245 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748055328 CA4878855 |
245 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 249 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777772443 CA4878857 |
249 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs994059082 CA185426729 |
251 | N>D | No |
ClinGen Ensembl |
|
|
CA4878858 rs368040634 |
254 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA372212113 rs1222690524 |
256 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 259 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 259 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759555318 CA4878861 |
259 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551222848 CA4878875 |
260 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 260 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287837920 CA372213052 |
262 | D>A | No |
ClinGen gnomAD |
|
|
CA372213064 rs1563665025 |
263 | H>L | No |
ClinGen Ensembl |
|
|
CA372213062 rs1321002901 |
263 | H>Y | No |
ClinGen gnomAD |
|
|
CA185427801 rs1021534572 |
264 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs61740223 CA4878876 |
265 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372213091 rs1563665049 |
265 | K>R | No |
ClinGen Ensembl |
|
| VAR_075110 | 268 | D>G | No | UniProt | |
|
rs537090230 CA4878879 |
269 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1181267943 CA372213165 |
270 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372213242 rs1247881045 |
276 | C>S | No |
ClinGen TOPMed |
|
|
rs1004026104 CA185427808 |
281 | M>I | No |
ClinGen TOPMed |
|
|
rs746033674 CA4878881 |
281 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1473377038 CA372213283 |
281 | M>V | No |
ClinGen gnomAD |
|
|
rs1423931034 CA372213309 |
285 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1166083312 CA372213313 |
285 | Q>R | No |
ClinGen gnomAD |
|
|
CA185401762 rs1037521279 |
286 | A>S | No |
ClinGen gnomAD |
|
|
rs758686387 CA185401765 |
287 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 287 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs532551896 CA4878897 |
288 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4878898 rs780983499 |
293 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA372202575 rs1362884598 |
293 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372202631 rs1327943788 |
296 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA185401787 rs144744313 |
300 | L>F | No |
ClinGen ESP |
|
|
rs756424891 CA4878900 |
302 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1404606641 CA372202713 |
302 | A>S | No |
ClinGen TOPMed |
|
|
rs922734695 CA185401799 |
303 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA372202723 rs922734695 |
303 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4878901 rs148528328 |
303 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA372202721 rs922734695 |
303 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs749391297 CA4878902 |
305 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA185401811 rs933972284 |
306 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 306 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1051919613 CA185401807 |
306 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 306 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464078672 CA372202782 |
307 | A>S | No |
ClinGen gnomAD |
|
|
rs768680945 CA4878904 |
307 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA372202799 rs1563674770 |
308 | P>L | No |
ClinGen Ensembl |
|
|
rs141857907 CA4878905 |
309 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141857907 CA4878906 |
309 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1249252273 CA372202803 |
309 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs772551695 CA4878907 |
310 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4878908 rs773689284 |
311 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1007432614 CA185401837 |
312 | A>T | No |
ClinGen gnomAD |
|
|
rs760921818 CA4878909 |
314 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253614713 CA372202860 |
315 | I>N | No |
ClinGen TOPMed |
|
|
rs764993491 CA4878910 |
316 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA372202880 rs1199426442 |
318 | L>P | No |
ClinGen TOPMed |
|
|
TCGA novel VAR_075111 |
320 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA UniProt |
|
CA372202889 rs1367356341 |
320 | E>K | No |
ClinGen gnomAD |
|
|
VAR_075112 CA4878911 rs774959333 |
321 | A>S | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs200983781 CA4878912 |
322 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs80112542 CA4878913 |
322 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs200983781 CA185401866 |
322 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs904344640 CA185401876 |
323 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 325 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4878928 rs771163392 |
332 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4878930 rs762639229 |
334 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_075113 | 337 | V>L | No | UniProt | |
|
rs1365572338 CA372203359 |
338 | F>L | No |
ClinGen gnomAD |
|
| VAR_075114 | 338 | F>S | No | UniProt | |
|
rs1395349665 CA372203358 |
338 | F>Y | No |
ClinGen TOPMed |
|
|
CA4878931 rs561643252 |
340 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372203388 rs1382804092 |
341 | L>F | No |
ClinGen gnomAD |
|
|
CA372203391 rs1563676834 |
341 | L>P | No |
ClinGen Ensembl |
|
|
CA372203400 rs1303317573 |
342 | L>W | No |
ClinGen TOPMed |
|
|
rs369021092 COSM1635650 CA4878932 |
346 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM1096148 CA4878933 rs761376650 |
346 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1369531511 CA372203461 |
348 | S>N | No |
ClinGen gnomAD |
|
|
rs750286163 CA4878935 |
349 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372203491 rs1289866184 |
350 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372203505 rs528953018 |
351 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372203520 rs1184462232 |
352 | E>D | No |
ClinGen TOPMed |
|
|
rs193153450 CA4878938 |
352 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1096149 CA4878937 rs146057616 |
352 | E>K | endometrium Variant assessed as Somatic; 0.000971 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs754610866 CA4878939 VAR_075115 |
354 | N>D | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA4878940 rs779071773 |
354 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4878942 rs565714375 |
355 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs914438405 CA185403012 |
356 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4878943 rs778377906 |
357 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA372203582 rs777020782 |
357 | Q>P | No |
ClinGen ExAC TOPMed |
|
|
rs777020782 CA4878944 |
357 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
CA372203594 rs1440707474 |
358 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs2270877 VAR_047247 CA4878945 |
358 | G>R | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs2270877 CA4878946 |
358 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1563676977 | 359 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375192127 CA185403025 |
359 | G>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4878947 rs746231615 |
360 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA372203615 rs1236627585 |
361 | V>A | No |
ClinGen TOPMed |
|
|
rs373562940 CA372203624 |
363 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373562940 CA4878948 |
363 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372203625 rs1389275581 |
363 | S>N | No |
ClinGen gnomAD |
|
|
CA185403037 rs1046498208 |
363 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4878949 rs377584363 |
364 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4878951 VAR_047248 rs1051221 |
365 | N>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4878952 rs773212751 |
365 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA4878953 rs569921495 |
366 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766332569 CA4878954 |
367 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs753669894 CA4878955 |
368 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185403058 rs376499054 |
373 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA372203713 rs1199919624 |
376 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs765471153 CA4878958 |
376 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4878957 rs759300627 |
376 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA372203721 rs1186541921 |
377 | I>T | No |
ClinGen gnomAD |
|
|
rs995823154 CA185403081 |
379 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 379 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200578021 CA372203742 |
380 | N>I | No |
ClinGen TOPMed |
|
|
rs896570990 CA185403084 |
382 | I>S | No |
ClinGen TOPMed |
|
|
rs752880730 CA4878959 |
382 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371508748 CA372203768 |
384 | Q>R | No |
ClinGen Ensembl |
|
|
rs1563677235 CA372203775 |
385 | T>R | No |
ClinGen Ensembl |
|
|
CA4878980 rs757337925 |
388 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372204690 rs1586636919 |
392 | N>K | No |
ClinGen Ensembl |
|
|
rs750892238 CA4878982 |
395 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375902514 CA4878983 |
396 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375902514 CA372204742 |
396 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1291177469 CA372204755 |
397 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 398 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4878984 rs780620717 |
398 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 398 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4878985 rs749656708 |
401 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA185405755 rs201002950 |
403 | M>V | No |
ClinGen Ensembl |
|
|
rs758024391 CA4878986 |
406 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs892506171 CA185405760 |
411 | V>A | No |
ClinGen Ensembl |
|
|
rs1489205367 CA372204988 |
411 | V>L | No |
ClinGen TOPMed |
|
|
rs1347690464 CA372205005 |
412 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA372205029 rs1226633224 |
413 | G>R | No |
ClinGen gnomAD |
|
|
CA372205060 rs1287860509 |
414 | T>A | No |
ClinGen gnomAD |
|
|
CA372205074 rs1215706096 |
414 | T>I | No |
ClinGen TOPMed |
|
|
rs144152486 CA4878987 |
415 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770392172 CA185405772 |
416 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4878989 rs770392172 |
416 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280350621 CA372205112 |
417 | H>D | No |
ClinGen TOPMed |
|
|
CA4878990 rs202192898 |
417 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769708336 CA4878992 |
419 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs762779611 CA372205183 |
420 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA4878994 rs762779611 |
420 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs775216695 CA4878993 |
420 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA372205178 rs775216695 |
420 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA372205196 rs1412010389 |
421 | I>V | No |
ClinGen gnomAD |
|
|
CA372205265 rs1161840923 |
424 | L>R | No |
ClinGen gnomAD |
|
|
CA372205267 rs1278236773 |
425 | G>R | No |
ClinGen TOPMed |
|
|
CA185406071 rs867550217 |
428 | G>* | No |
ClinGen Ensembl |
|
| TCGA novel | 429 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1460546124 CA372205724 |
430 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4879013 rs769764932 |
432 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4879014 rs373249214 |
433 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372205749 rs1317105059 |
434 | I>V | No |
ClinGen gnomAD |
|
|
rs112997456 CA185406085 |
435 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 436 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs573541853 CA4879041 |
443 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4879040 rs779889018 |
443 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1265532789 CA372205833 |
444 | T>I | No |
ClinGen gnomAD |
|
|
CA4879043 rs370196732 |
446 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1218093302 CA372205849 |
447 | Y>C | No |
ClinGen TOPMed |
|
|
rs374622064 CA4879044 |
448 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4879045 rs772469635 |
449 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1205016 rs773514654 CA4879046 |
449 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
VAR_075116 rs770980074 CA4879048 |
451 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4879052 rs753101720 |
454 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA372205895 rs1451056369 |
455 | A>T | No |
ClinGen TOPMed |
|
|
rs763283765 CA4879053 |
455 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345819676 CA372205902 |
456 | L>P | No |
ClinGen gnomAD |
|
|
CA4879054 rs753620443 |
456 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA372205914 rs1462655161 |
458 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4879056 rs551457851 |
458 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372205920 rs1481017961 |
459 | S>F | No |
ClinGen TOPMed |
|
|
rs182899732 CA4879061 |
463 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA4879060 rs778690067 |
463 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 464 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4879065 rs771049163 |
466 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4879066 rs776840500 |
467 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA372205992 rs1409794856 |
467 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 469 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372206042 rs1410070350 |
470 | M>L | No |
ClinGen gnomAD |
|
|
rs1403381955 CA372206077 |
472 | D>H | No |
ClinGen gnomAD |
|
|
CA372206120 rs770383245 |
474 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770383245 CA4879068 |
474 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775929443 CA372206137 |
475 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1586641952 CA372206217 |
479 | V>A | No |
ClinGen Ensembl |
|
|
rs1563685113 CA372206257 |
482 | V>I | No |
ClinGen Ensembl |
|
|
rs763340332 CA4879070 |
486 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325650298 CA372206346 |
487 | M>V | No |
ClinGen TOPMed |
|
|
rs764376469 CA4879071 |
489 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs371116230 CA4879072 |
489 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760443444 CA4879073 |
490 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1232306692 CA372206422 |
491 | D>H | No |
ClinGen TOPMed |
|
|
rs1326781439 CA372206433 |
491 | D>V | No |
ClinGen TOPMed |
|
|
CA4879077 rs754393609 |
494 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA4879076 rs753436279 |
494 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs765292585 CA4879078 |
495 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4879079 COSM1096152 rs752611506 |
497 | R>* | endometrium Variant assessed as Somatic; 4.658e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs758285578 CA4879080 |
497 | R>Q | No |
ClinGen ExAC gnomAD |
|
| rs141932899 | 499 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4879082 rs746778825 |
499 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185407425 rs1023257743 |
501 | I>V | No |
ClinGen Ensembl |
|
|
rs756200882 CA4879105 |
503 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs139578436 CA4879106 |
503 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139578436 CA372206731 |
503 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 503 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_075117 | 504 | D>G | No | UniProt | |
|
CA4879108 rs200277187 |
504 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372206776 rs1429377316 |
507 | D>Y | No |
ClinGen gnomAD |
|
|
CA185407437 rs865904265 |
508 | L>I | No |
ClinGen Ensembl |
|
| VAR_075118 | 508 | L>P | No | UniProt | |
| VAR_075119 | 510 | I>V | No | UniProt | |
|
rs1428920366 CA372206882 |
513 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 515 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372206969 rs1448253758 |
519 | D>E | No |
ClinGen TOPMed |
|
|
rs1265622712 CA372206973 |
520 | T>A | No |
ClinGen TOPMed |
|
|
CA4879112 rs375354603 |
523 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA372207000 rs1407442198 |
523 | M>R | No |
ClinGen gnomAD |
|
|
rs201142012 CA4879111 |
523 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372207009 rs1287657970 |
524 | K>N | No |
ClinGen gnomAD |
|
| VAR_075120 | 528 | Q>R | No | UniProt | |
|
rs200054806 CA4879130 |
532 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779475356 VAR_075121 CA4879129 |
532 | R>W | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs772616504 CA4879131 |
533 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1250408175 CA372207348 |
534 | I>M | No |
ClinGen gnomAD |
|
|
CA4879133 rs374094815 VAR_075122 |
534 | I>T | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs778068671 CA4879132 |
534 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161950155 CA372207352 |
535 | Y>C | No |
ClinGen gnomAD |
|
|
rs769623269 CA4879134 |
535 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 537 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372207363 rs1173726618 |
537 | G>S | No |
ClinGen TOPMed |
|
|
CA372207370 rs1432310959 |
538 | C>R | No |
ClinGen TOPMed |
|
|
CA372207374 rs1227044809 |
538 | C>Y | No |
ClinGen gnomAD |
|
|
CA4879136 rs762584170 |
540 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA372207393 rs1164378167 |
541 | E>Q | No |
ClinGen gnomAD |
|
|
rs1367757662 CA372207413 |
543 | N>I | No |
ClinGen gnomAD |
|
|
rs774360397 CA4879138 |
544 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4879140 rs767456755 |
545 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 546 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4879141 rs750232720 |
547 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs766617777 CA4879143 |
548 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755060123 CA4879145 |
553 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4879146 rs765289376 |
553 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA372207501 rs1481340453 |
557 | L>F | No |
ClinGen gnomAD |
|
|
rs1180989056 CA372207502 |
557 | L>R | No |
ClinGen gnomAD |
|
|
CA4879150 rs554120365 |
558 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1258217513 CA372207508 |
558 | I>M | No |
ClinGen TOPMed |
|
|
rs375376932 CA4879152 |
558 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4879151 rs554120365 |
558 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 560 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4879153 rs748893184 |
560 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372207534 rs1279208362 |
563 | A>T | No |
ClinGen TOPMed |
|
|
CA185409895 rs1021053434 |
564 | N>S | No |
ClinGen Ensembl |
|
|
rs1277707022 CA372207560 |
566 | E>D | No |
ClinGen TOPMed |
|
|
rs148847170 CA4879154 |
566 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 566 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148847170 CA372207559 |
566 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767412376 CA185409900 |
569 | I>T | No |
ClinGen TOPMed |
|
|
CA4879155 rs773772572 |
570 | D>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1454885 CA372207580 rs1381295517 |
570 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| VAR_075123 | 570 | D>V | No | UniProt | |
|
rs771925674 CA4879157 |
571 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs747669393 CA4879156 |
571 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs146942442 CA4879158 |
572 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372207592 rs1187981307 |
572 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760463714 CA4879159 |
573 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4879160 rs764336419 |
573 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4879163 rs370018414 |
575 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4879161 rs776395415 |
575 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1205017 rs370018414 CA4879162 |
575 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA372207609 rs1428093067 |
576 | I>V | No |
ClinGen gnomAD |
|
|
CA4879182 rs765404076 |
580 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372207932 rs1221125734 |
580 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1282131869 CA372207937 |
580 | D>V | No |
ClinGen gnomAD |
|
|
CA372207934 rs1221125734 |
580 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1325617254 CA372207943 |
581 | S>T | No |
ClinGen TOPMed |
|
|
rs1455677300 CA372207952 |
582 | A>V | No |
ClinGen gnomAD |
|
|
CA4879183 rs775744193 |
583 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147562541 CA4879185 |
584 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762947894 CA4879184 |
584 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs751678029 CA4879186 |
585 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373060497 CA185410378 |
585 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs141918239 CA4879187 |
586 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA185410394 rs982068202 |
587 | D>E | No |
ClinGen TOPMed |
|
|
CA4879188 rs768114642 |
587 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1305150576 CA372207996 |
589 | L>F | No |
ClinGen Ensembl |
|
|
CA4879189 rs143368764 |
591 | M>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs146908122 CA4879190 |
593 | H>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs146908122 CA372208021 |
593 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1174181910 CA372208029 |
594 | R>C | No |
ClinGen gnomAD |
|
|
rs778434355 CA4879191 |
594 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1399883299 CA372208055 |
598 | M>L | No |
ClinGen gnomAD |
|
|
rs752332540 CA4879192 |
598 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1478158677 CA372208063 |
599 | A>S | No |
ClinGen TOPMed |
|
|
CA372208061 rs1478158677 |
599 | A>T | No |
ClinGen TOPMed |
|
|
rs757971211 CA4879193 |
600 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1218777083 CA372208068 |
600 | L>V | No |
ClinGen TOPMed |
|
|
rs1586652557 CA372208073 |
601 | V>F | No |
ClinGen Ensembl |
|
|
rs746488431 CA4879195 |
606 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs770907295 CA4879196 |
609 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1315186319 CA372208149 |
612 | I>V | No |
ClinGen gnomAD |
|
|
rs781061580 CA4879197 |
614 | V>I | No |
ClinGen ExAC |
|
|
rs1406318003 CA372208167 |
615 | P>A | No |
ClinGen gnomAD |
|
|
CA185410456 rs755979834 |
615 | P>L | No |
ClinGen Ensembl |
|
|
rs1406318003 CA372208168 |
615 | P>S | No |
ClinGen gnomAD |
|
|
CA4879198 rs745684201 |
616 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218033013 CA372208183 |
617 | F>L | No |
ClinGen TOPMed |
|
|
rs1356453883 CA372208191 |
618 | C>W | No |
ClinGen TOPMed |
|
|
CA4879199 rs769570399 |
619 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1223547077 CA372208207 |
621 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 623 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs78076857 CA4879218 |
625 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769019881 CA4879219 |
628 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1205020 CA4879220 rs774673584 |
628 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1364816753 CA372208272 |
629 | T>A | No |
ClinGen TOPMed |
|
|
rs1204522571 CA372208276 |
629 | T>I | No |
ClinGen gnomAD |
|
|
rs1364816753 CA372208273 |
629 | T>S | No |
ClinGen TOPMed |
|
|
CA185410974 rs112826074 |
630 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1385442061 CA372208287 |
631 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 635 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA185410977 rs990412600 |
636 | L>Q | No |
ClinGen TOPMed |
|
|
rs761988019 CA4879221 |
639 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA372208342 rs1395075189 |
639 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773148640 CA4879223 |
642 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4879224 rs761308218 |
643 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1403154270 CA372208367 |
643 | D>N | No |
ClinGen gnomAD |
|
|
CA4879226 rs777100234 |
645 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1268745872 CA372208384 |
645 | C>Y | No |
ClinGen TOPMed |
|
|
CA185411633 rs935208088 |
646 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
VAR_075124 CA4879227 rs759848268 |
646 | M>V | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs1195438390 CA372208592 |
647 | L>F | No |
ClinGen gnomAD |
|
|
rs1586656674 CA372208621 |
648 | P>L | No |
ClinGen Ensembl |
|
|
rs1426526967 CA372208657 |
650 | S>F | No |
ClinGen gnomAD |
|
|
rs1036581359 CA185411635 |
651 | L>S | No |
ClinGen Ensembl |
|
|
rs1479830901 CA372208693 |
652 | E>Q | No |
ClinGen gnomAD |
|
|
CA4879242 rs377726346 |
654 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4879243 rs377726346 |
654 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs898069729 CA185411646 |
655 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 656 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765532571 CA4879246 |
657 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4879247 rs775819177 |
658 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA372208888 rs1300300974 |
662 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 663 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767048163 CA372208902 |
663 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4879249 rs767048163 |
663 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA4879250 rs141536283 |
664 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4879251 rs755537506 |
664 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236570912 CA372208942 |
665 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs74413097 CA4879252 |
665 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753769203 CA4879253 |
667 | E>K | No |
ClinGen ExAC |
|
|
CA372208982 rs1168378849 |
667 | E>V | No |
ClinGen TOPMed |
|
|
rs201899653 CA4879255 |
668 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1163026724 CA372209007 |
669 | L>V | No |
ClinGen TOPMed |
|
|
CA372209033 rs1423446542 |
670 | G>V | No |
ClinGen TOPMed |
|
|
CA4879259 rs758739145 |
672 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4879260 rs777806075 |
672 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs770852685 CA4879262 |
674 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138240878 CA4879263 |
675 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746436933 CA4879264 |
675 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372209108 rs1363528844 |
676 | V>G | No |
ClinGen gnomAD |
|
|
rs770281892 CA4879265 |
678 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA185411756 rs147187755 |
680 | S>P | No |
ClinGen 1000Genomes gnomAD |
|
|
CA185411757 rs969084046 |
682 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372209141 rs1224425742 |
682 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs763283691 CA4879268 |
683 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4879267 rs763283691 |
683 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1377277793 CA372209156 |
684 | V>A | No |
ClinGen gnomAD |
|
|
rs774764223 CA4879287 |
689 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs765862555 CA4879271 |
689 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs774764223 CA372210551 |
689 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA372210568 rs1178942203 |
690 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA372210591 rs1241627781 |
691 | D>G | No |
ClinGen gnomAD |
|
|
COSM1700636 CA185419639 rs369386138 |
691 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM204252 CA4879289 rs770587283 |
692 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4879290 rs776329963 |
692 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759066955 CA4879291 |
694 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 694 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768215981 CA185419673 |
695 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 696 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372210673 rs1429737172 |
698 | S>I | No |
ClinGen TOPMed |
|
|
rs762821071 CA4879294 |
699 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA372210700 rs1467075156 |
701 | D>G | No |
ClinGen gnomAD |
|
|
rs371862225 CA4879295 |
703 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4879296 rs751365770 |
704 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185419688 rs751365770 |
704 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185419683 rs751365770 |
704 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757464270 CA4879297 |
705 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA372210740 rs1213441967 |
707 | V>A | No |
ClinGen gnomAD |
|
|
CA372210737 rs1359496595 |
707 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372210736 rs1359496595 |
707 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA185419714 rs1055997019 |
708 | D>E | No |
ClinGen Ensembl |
|
|
rs781373739 CA4879298 |
708 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1272629212 CA372210744 |
708 | D>Y | No |
ClinGen TOPMed |
|
|
CA185419719 rs773999053 |
709 | I>V | No |
ClinGen Ensembl |
|
|
rs750527240 CA4879299 |
712 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs146078088 CA4879300 |
712 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA372210769 rs146078088 |
712 | N>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4879301 rs140029725 |
713 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 713 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs3204625 CA185419737 |
715 | P>R | No |
ClinGen Ensembl |
|
|
CA4879303 rs114463838 |
715 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372210795 rs1239407311 |
716 | S>F | No |
ClinGen gnomAD |
|
|
rs779181081 CA4879304 |
717 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1263925505 CA372210803 |
718 | D>N | No |
ClinGen gnomAD |
|
|
rs748523416 CA4879305 |
719 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA372210814 rs748523416 |
719 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA372210811 rs1478846975 |
719 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs375266381 CA4879325 |
721 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4879326 rs201762155 |
721 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs144169052 CA4879327 |
723 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372211562 rs144169052 |
723 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4879329 rs748813807 |
725 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1478120692 CA372211623 |
726 | I>L | No |
ClinGen TOPMed |
|
|
CA4879331 rs774307252 |
727 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 728 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1191381023 CA372211750 |
730 | A>V | No |
ClinGen TOPMed |
|
|
rs149481135 CA4879332 |
732 | K>T | No |
ClinGen 1000Genomes ExAC |
|
|
rs767355470 CA4879333 |
733 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA185422193 rs1001603534 |
734 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA372211846 rs1001603534 |
734 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4879334 rs142186096 |
735 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4879350 rs748147838 |
736 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372212016 rs748147838 |
736 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572300430 CA185422732 |
737 | T>S | No |
ClinGen TOPMed |
|
|
rs771962282 CA4879351 |
738 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771962282 CA4879352 |
738 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4879354 rs150770043 |
741 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372212277 rs1473482447 |
749 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs373785636 CA4879359 |
749 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA372212308 rs1422336626 |
754 | K>E | No |
ClinGen gnomAD |
|
|
rs1465514702 CA372212311 |
754 | K>R | No |
ClinGen gnomAD |
|
|
rs1332640689 CA372212325 |
756 | Q>* | No |
ClinGen gnomAD |
|
|
CA4879361 rs764675521 |
758 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1244869095 CA372212358 |
759 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 760 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372212395 rs1333736765 |
762 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA372212425 rs1425176905 |
763 | I>T | No |
ClinGen gnomAD |
|
|
CA372212416 rs1450259098 |
763 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4879363 rs757660094 |
764 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219092064 CA372212527 |
769 | S>Y | No |
ClinGen gnomAD |
|
|
CA4879384 rs767988790 |
771 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762284297 CA4879383 |
771 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256323601 CA372212672 |
773 | L>M | No |
ClinGen gnomAD |
|
|
CA4879385 rs750719994 |
775 | H>R | No |
ClinGen ExAC |
|
|
CA372212701 rs1346882971 |
775 | H>Y | No |
ClinGen gnomAD |
|
|
CA372212715 rs1360846687 |
776 | D>H | No |
ClinGen gnomAD |
|
|
CA4879387 rs778377271 |
777 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4879389 rs139120454 |
778 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4879388 rs139120454 |
778 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372212971 rs1290116745 |
779 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 779 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195273742 CA372212976 |
779 | A>V | No |
ClinGen gnomAD |
|
|
rs747005089 CA4879391 |
781 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 782 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4879393 rs781083351 |
784 | L>F | No |
ClinGen ExAC gnomAD |
|
|
VAR_075125 CA372213068 rs1467962026 |
785 | T>A | No |
ClinGen UniProt dbSNP gnomAD |
|
|
CA372213078 rs1238307013 |
785 | T>N | No |
ClinGen TOPMed |
|
|
CA4879394 rs147579193 |
786 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4879395 rs543264274 |
787 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA4879396 rs750110399 |
787 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773525022 CA4879421 |
790 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA185427531 rs761114231 |
790 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761114231 CA4879422 |
790 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165619286 CA372213344 |
791 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA372213349 rs61739634 |
791 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1463953515 CA372213352 |
792 | P>A | No |
ClinGen gnomAD |
|
|
CA185427540 rs199679044 |
793 | S>P | No |
ClinGen 1000Genomes |
|
|
CA4879424 rs776974166 |
794 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1448794477 CA372213368 |
795 | T>A | No |
ClinGen gnomAD |
|
|
rs372509434 CA4879426 |
796 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763715816 CA4879427 |
797 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761190171 CA4879429 |
800 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372213398 rs761190171 |
800 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185427548 rs190196297 |
801 | G>E | No |
ClinGen 1000Genomes |
|
|
CA372213408 rs1347214413 |
802 | H>R | No |
ClinGen gnomAD |
|
|
CA4879430 rs767497760 |
802 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1325162417 CA372213414 |
803 | A>S | No |
ClinGen TOPMed |
|
|
rs1280823553 CA372213418 |
804 | Q>* | No |
ClinGen TOPMed |
|
|
CA372213437 rs1403783670 |
806 | Q>P | No |
ClinGen TOPMed |
|
|
CA185427556 rs779651649 |
807 | S>C | No |
ClinGen Ensembl |
|
|
CA372213447 rs1319013744 |
808 | V>I | No |
ClinGen gnomAD |
|
|
CA372213469 rs1207120705 |
811 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4879432 rs756068398 |
813 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs535074526 CA4879433 |
815 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs916377704 CA185427563 |
819 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA372213534 rs1297025788 |
820 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA372213545 rs1466964122 |
822 | Y>R | No |
ClinGen gnomAD |
1 associated diseases with Q14156
Without disease ID
Functions
2 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| phosphatidylinositol phosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9Y2G0 | EFR3B | Protein EFR3 homolog B | Homo sapiens (Human) | PR |
| Q6ZQ18 | Efr3b | Protein EFR3 homolog B | Mus musculus (Mouse) | PR |
| Q8BG67 | Efr3a | Protein EFR3 homolog A | Mus musculus (Mouse) | PR |
| Q5SPP5 | efr3b | Protein EFR3 homolog B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPTRVCCCCS | ALRPRYKRLV | DNIFPEDPKD | GLVKTDMEKL | TFYAVSAPEK | LDRIGSYLAE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RLSRDVVRHR | SGYVLIAMEA | LDQLLMACHS | QSIKPFVESF | LHMVAKLLES | GEPKLQVLGT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NSFVKFANIE | EDTPSYHRRY | DFFVSRFSAM | CHSCHSDPEI | RTEIRIAGIR | GIQGVVRKTV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NDELRATIWE | PQHMDKIVPS | LLFNMQKIEE | VDSRIGPPSS | PSATDKEENP | AVLAENCFRE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LLGRATFGNM | NNAVRPVFAH | LDHHKLWDPN | EFAVHCFKII | MYSIQAQYSH | HVIQEILGHL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DARKKDAPRV | RAGIIQVLLE | AVAIAAKGSI | GPTVLEVFNT | LLKHLRLSVE | FEANDLQGGS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VGSVNLNTSS | KDNDEKIVQN | AIIQTIGFFG | SNLPDYQRSE | IMMFIMGKVP | VFGTSTHTLD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ISQLGDLGTR | RIQIMLLRSL | LMVTSGYKAK | TIVTALPGSF | LDPLLSPSLM | EDYELRQLVL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EVMHNLMDRH | DNRAKLRGIR | IIPDVADLKI | KREKICRQDT | SFMKKNGQQL | YRHIYLGCKE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EDNVQKNYEL | LYTSLALITI | ELANEEVVID | LIRLAIALQD | SAIINEDNLP | MFHRCGIMAL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VAAYLNFVSQ | MIAVPAFCQH | VSKVIEIRTM | EAPYFLPEHI | FRDKCMLPKS | LEKHEKDLYF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LTNKIAESLG | GSGYSVERLS | VPYVPQVTDE | DRLSRRKSIV | DTVSIQVDIL | SNNVPSDDVV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SNTEEITFEA | LKKAIDTSGM | EEQEKEKRRL | VIEKFQKAPF | EEIAAQCESK | ANLLHDRLAQ |
| 790 | 800 | 810 | 820 | ||
| ILELTIRPPP | SPSGTLTITS | GHAQYQSVPV | YEMKFPDLCV | Y |