A4D1P6
PR
Gene name |
WDR91 |
Protein name |
WD repeat-containing protein 91 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:29062 |
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
4 structures for A4D1P6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6VYC | X-ray | 210 A | A/B | 392-747 | PDB |
| 8SHJ | X-ray | 221 A | A/B/C | 392-747 | PDB |
| 8T55 | X-ray | 220 A | A/B/C | 392-747 | PDB |
| AF-A4D1P6-F1 | Predicted | AlphaFoldDB |
568 variants for A4D1P6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001003466 CA4496849 rs373727223 |
10 | E>* | Neurodevelopmental disorder with brain malformations and multiple congenital anomalies [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1390265639 CA369340346 |
2 | A>T | No |
ClinGen gnomAD |
|
|
rs1410414714 CA369340315 |
4 | A>P | No |
ClinGen gnomAD |
|
|
CA167027423 rs868274411 COSM599169 |
4 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1251953414 CA369340306 |
5 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1012096140 CA369340281 |
6 | E>D | No |
ClinGen TOPMed |
|
|
rs752900701 CA4496854 |
6 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752900701 CA167027416 |
6 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369340276 rs765441194 |
7 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496853 rs765441194 |
7 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369340274 rs1206061655 |
7 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs759642179 CA4496852 |
8 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759642179 CA369340264 |
8 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167027402 rs894940622 |
8 | T>S | No |
ClinGen gnomAD |
|
|
rs748121110 CA167027386 |
9 | D>E | No |
ClinGen TOPMed |
|
|
CA167027396 rs776831358 |
9 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496851 rs776831358 |
9 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496850 rs771606045 |
9 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA369340247 rs373727223 |
10 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs982133367 CA167027381 |
12 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4496846 rs747786009 |
13 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772412939 CA4496847 |
13 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778485286 CA4496845 |
14 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1562961081 CA369340154 |
17 | L>P | No |
ClinGen Ensembl |
|
|
CA369340144 rs1245785892 |
18 | F>S | No |
ClinGen gnomAD |
|
|
rs750320151 CA4496840 |
19 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs780856081 CA4496839 |
20 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs142902910 CA4496836 |
22 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142902910 CA4496837 |
22 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs995412898 CA167027334 |
23 | H>P | No |
ClinGen TOPMed |
|
|
CA369340084 rs1217555251 |
23 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA369340074 rs1344471627 |
24 | T>I | No |
ClinGen gnomAD |
|
|
rs1275506761 CA369340070 |
25 | L>P | No |
ClinGen gnomAD |
|
|
rs1443427073 CA369340067 |
26 | R>W | No |
ClinGen gnomAD |
|
|
CA4496834 rs140576013 |
30 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369340038 rs1347466308 |
30 | A>V | No |
ClinGen gnomAD |
|
|
rs772342842 CA4496830 |
32 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761089917 CA4496832 |
32 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA4496833 rs761089917 |
32 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs147463212 CA4496829 |
34 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4496828 rs370300064 |
35 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370300064 CA4496827 |
35 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369339932 rs1443804368 |
36 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs748929017 CA4496826 |
37 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1585448265 CA369339814 |
40 | F>C | No |
ClinGen Ensembl |
|
|
CA4496824 rs745827010 |
41 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496823 rs745827010 |
41 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777714997 CA4496803 |
43 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs777714997 CA4496802 |
43 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1420126935 CA369339350 |
43 | D>N | No |
ClinGen TOPMed |
|
|
rs1350381336 CA369339312 |
44 | K>N | No |
ClinGen gnomAD |
|
|
CA4496801 rs758224648 |
47 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167026461 rs886416784 |
47 | D>N | No |
ClinGen TOPMed |
|
|
CA4496800 rs749542095 |
53 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA369339107 rs1375077753 |
54 | Q>R | No |
ClinGen gnomAD |
|
|
CA167026452 rs967332023 |
55 | V>M | No |
ClinGen gnomAD |
|
|
CA369338529 rs1294209090 |
56 | Y>F | No |
ClinGen TOPMed |
|
|
CA369338523 rs1390195178 |
57 | D>N | No |
ClinGen TOPMed |
|
|
CA167026440 rs1024308898 |
60 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756257440 CA369338454 |
62 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374844154 CA4496797 |
62 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs756257440 CA4496798 |
62 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369338430 rs1585444415 |
63 | D>G | No |
ClinGen Ensembl |
|
|
CA4496796 rs767477771 |
63 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4496795 rs757778400 |
64 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4496794 rs141430519 |
68 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764476502 CA4496793 |
70 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1039643938 CA167026416 COSM1643251 |
70 | R>H | stomach [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA369338253 rs763257351 |
71 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034953089 CA167026400 |
71 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs763257351 CA4496792 |
71 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369338210 rs1207158929 |
73 | F>L | No |
ClinGen gnomAD |
|
|
CA4496791 rs775811151 |
75 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167026395 rs775811151 |
75 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764983347 CA4496790 |
75 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764983347 CA369338165 |
75 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496789 rs543334699 |
76 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1383730604 CA369338121 |
77 | E>* | No |
ClinGen gnomAD |
|
|
CA4496788 rs573973371 CA369338098 |
77 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1585444252 CA369338111 |
77 | E>G | No |
ClinGen Ensembl |
|
|
rs1425785620 CA369338083 |
78 | D>G | No |
ClinGen TOPMed |
|
|
rs746973919 CA4496786 |
79 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs148296174 CA167026362 |
79 | I>R | No |
ClinGen ESP gnomAD |
|
|
CA4496787 rs770280198 |
79 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs773233836 CA4496785 |
80 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA369337998 rs1585444144 |
81 | R>S | No |
ClinGen Ensembl |
|
|
rs1432587024 CA369337972 |
82 | P>L | No |
ClinGen gnomAD |
|
|
CA369337952 rs1585444119 |
83 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 84 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4496784 rs772112622 |
84 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496783 rs747993673 |
85 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs778565423 CA4496782 |
86 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA369337871 rs1417224578 |
87 | L>V | No |
ClinGen TOPMed |
|
|
rs746016447 CA4496781 |
89 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746016447 CA4496780 |
89 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562959658 CA369337822 |
89 | T>S | No |
ClinGen Ensembl |
|
|
rs1175418383 CA369337805 |
90 | S>T | No |
ClinGen gnomAD |
|
|
rs781340503 CA4496779 |
91 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA369337740 rs1562959634 |
93 | R>* | No |
ClinGen Ensembl |
|
|
rs1562959634 CA369337737 |
93 | R>G | No |
ClinGen Ensembl |
|
|
CA4496776 rs752085788 |
93 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369337641 rs1381875945 |
97 | V>G | No |
ClinGen TOPMed |
|
|
rs778303043 CA4496775 |
97 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758873450 CA4496774 |
98 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs143313356 CA167026292 |
100 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA4496748 rs190998125 |
102 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 104 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750009095 CA4496747 |
108 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496746 rs750009095 |
108 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167025981 rs1055855607 |
111 | F>I | No |
ClinGen TOPMed |
|
|
CA369337456 rs1585442621 |
112 | F>S | No |
ClinGen Ensembl |
|
|
rs1562959262 CA369337416 |
117 | T>A | No |
ClinGen Ensembl |
|
|
rs372920861 CA4496744 |
117 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs904390913 CA167025974 |
120 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 120 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762708381 CA4496741 |
122 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs775327241 CA4496740 |
123 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA369337336 rs747221458 |
125 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496738 rs747221458 |
125 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496736 rs201094010 |
130 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA369337265 rs1585442470 |
135 | P>S | No |
ClinGen Ensembl |
|
|
rs755478874 CA4496733 |
136 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs755478874 CA369337257 |
136 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs780548923 CA4496731 |
137 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540495343 CA4496728 |
140 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4496729 rs540495343 |
140 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369337231 rs1336585821 |
141 | P>S | No |
ClinGen gnomAD |
|
|
CA369337220 rs1385298723 |
142 | T>I | No |
ClinGen gnomAD |
|
|
CA167025896 rs976665949 |
145 | T>S | No |
ClinGen TOPMed |
|
|
rs1166070881 CA369337129 |
149 | R>* | No |
ClinGen gnomAD |
|
|
CA167025889 rs759580172 |
149 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759580172 CA167025892 |
149 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496727 rs759580172 |
149 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156317705 CA369337103 |
150 | Q>R | No |
ClinGen gnomAD |
|
|
CA369337054 rs1232938152 COSM50575 |
152 | A>T | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA369337006 rs1449482805 |
154 | T>N | No |
ClinGen gnomAD |
|
|
rs1458182280 CA369336939 |
157 | V>L | No |
ClinGen Ensembl |
|
|
rs1370120970 CA369336868 |
161 | N>D | No |
ClinGen Ensembl |
|
|
rs763982709 CA4496725 |
163 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496723 rs201146050 COSM1193171 |
165 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs773372922 CA4496720 CA369336736 |
167 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4496718 rs748216068 |
169 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1443475394 CA369336679 |
170 | M>I | No |
ClinGen gnomAD |
|
|
CA4496717 rs774484763 |
170 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776874315 CA4496675 |
172 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs771260259 CA4496674 |
173 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1585438448 CA369335296 |
175 | I>F | No |
ClinGen Ensembl |
|
| TCGA novel | 175 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369335272 rs1307908797 |
177 | N>H | No |
ClinGen TOPMed |
|
|
rs1288129479 CA369335252 |
178 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752551859 COSM204436 CA4496671 |
180 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs901932442 CA167024507 |
182 | C>S | No |
ClinGen Ensembl |
|
|
CA167024489 rs1039487976 |
183 | Q>* | No |
ClinGen gnomAD |
|
|
rs146886305 CA4496669 |
183 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369335166 rs1297306872 |
184 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778380708 CA4496668 |
187 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA369335140 rs753704545 |
188 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs753704545 CA4496666 |
188 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4496664 rs750165534 |
192 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4496663 rs750165534 |
192 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs764418488 CA4496662 |
193 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764418488 CA369335106 |
193 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 194 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763267919 CA4496661 |
194 | V>I | No |
ClinGen ExAC |
|
| TCGA novel | 195 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140745878 CA4496660 |
196 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4496659 rs150931054 |
196 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1245400516 CA369335076 |
198 | K>E | No |
ClinGen gnomAD |
|
|
rs759549040 CA4496611 |
199 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759549040 CA4496610 |
199 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562956963 CA369335024 |
204 | A>G | No |
ClinGen Ensembl |
|
|
rs777696525 CA4496607 |
204 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496606 rs777696525 |
204 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496605 rs768935140 |
205 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA369335014 rs1461755925 |
206 | I>V | No |
ClinGen gnomAD |
|
|
CA4496604 rs749404338 |
208 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM278136 CA167023382 rs867678719 |
208 | R>Q | large_intestine Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs780210501 CA4496603 |
209 | L>P | No |
ClinGen ExAC TOPMed |
|
|
rs780210501 CA167023371 |
209 | L>R | No |
ClinGen ExAC TOPMed |
|
|
CA369334972 rs1479404739 |
212 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 213 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369334957 rs1585435137 |
214 | Q>R | No |
ClinGen Ensembl |
|
|
rs1389038005 CA369334940 |
216 | P>L | No |
ClinGen TOPMed |
|
|
CA369334934 rs1485795332 |
217 | E>V | No |
ClinGen gnomAD |
|
|
CA369334909 rs1316405063 |
220 | E>D | No |
ClinGen TOPMed |
|
|
rs781692405 CA4496600 |
221 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369334903 rs1204153933 |
221 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781692405 CA369334897 |
221 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496599 rs757759854 |
223 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA369334812 rs1251672671 |
226 | K>R | No |
ClinGen gnomAD |
|
|
rs1230730136 CA369334772 |
228 | P>L | No |
ClinGen TOPMed |
|
|
rs1332519241 CA369334760 |
229 | P>R | No |
ClinGen gnomAD |
|
|
rs1220462512 CA369334765 |
229 | P>T | No |
ClinGen gnomAD |
|
|
CA4496595 rs148419307 |
233 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA369334682 rs1327163008 |
234 | M>T | No |
ClinGen gnomAD |
|
|
rs371424611 CA4496593 |
236 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369334648 rs371424611 |
236 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147828285 CA4496592 |
236 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4496590 rs760630368 |
239 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496588 rs199866195 |
240 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4496589 rs199866195 |
240 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4496586 rs780184807 COSM3662932 |
242 | L>I | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA369334557 rs1369666435 |
242 | L>P | No |
ClinGen gnomAD |
|
|
CA4496568 rs543838723 |
244 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1453240300 CA369333980 |
244 | M>V | No |
ClinGen gnomAD |
|
|
CA4496567 rs769971056 |
246 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4496566 rs746035834 |
247 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369333935 rs746035834 |
247 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776699719 CA4496565 |
247 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA369333928 rs1474697646 |
247 | S>T | No |
ClinGen TOPMed |
|
|
rs770962557 CA369333893 |
250 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA4496564 rs770962557 |
250 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs747536950 CA4496563 |
250 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs758909478 CA4496561 |
253 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4496560 rs748530511 |
255 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1562955866 CA369333813 |
257 | P>A | No |
ClinGen Ensembl |
|
|
VAR_033358 CA4496559 rs292592 |
257 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4496558 COSM136633 rs754680301 |
258 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs555884115 CA4496557 |
258 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555884115 CA369333799 |
258 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766009149 CA4496556 |
259 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs755729837 CA4496555 |
262 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA369333700 rs1383609695 |
263 | S>C | No |
ClinGen TOPMed |
|
|
CA369333681 rs1462640706 |
264 | S>L | No |
ClinGen gnomAD |
|
|
rs1562955808 CA369333639 |
267 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 270 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369333488 rs1222670730 |
274 | S>L | No |
ClinGen TOPMed |
|
|
rs1261088932 CA369333484 |
275 | R>G | No |
ClinGen TOPMed |
|
|
CA4496551 COSM3781266 rs567032751 |
277 | S>L | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs149535488 CA4496550 |
280 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs932906989 CA167022016 |
283 | P>S | No |
ClinGen TOPMed |
|
|
CA4496548 rs776785433 |
286 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1448247 CA4496546 rs747135607 |
288 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4496545 rs773339895 |
290 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748619463 CA4496543 |
297 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs911606781 CA167053374 |
299 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA369347412 rs1232679944 |
301 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 302 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369347405 rs1205581745 |
302 | K>R | No |
ClinGen gnomAD |
|
|
rs1459501529 CA369347354 |
303 | D>V | No |
ClinGen gnomAD |
|
|
rs139693315 CA4496520 |
304 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4496521 rs577255643 |
304 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4496517 rs200340926 |
305 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4496518 rs780600365 |
305 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs141898455 CA4496514 |
307 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1585421111 CA369347192 |
310 | D>V | No |
ClinGen Ensembl |
|
|
rs1585421118 CA369347202 |
310 | D>Y | No |
ClinGen Ensembl |
|
|
CA4496513 CA4496512 rs764956783 |
311 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369347132 rs1208236903 |
315 | L>F | No |
ClinGen TOPMed |
|
|
CA4496509 rs373737659 |
315 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM204434 rs767608464 CA4496508 |
317 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA369347047 rs1441982144 |
320 | T>S | No |
ClinGen gnomAD |
|
|
CA369347040 rs1192074191 |
321 | G>R | No |
ClinGen TOPMed |
|
|
rs774567327 CA4496506 |
322 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs555320428 CA4496503 |
324 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4496504 rs555320428 |
324 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770156393 CA4496502 |
325 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 326 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4496499 rs750173279 |
328 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs956389959 CA167053295 |
329 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA167053299 COSM218907 rs895332762 |
329 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA4496497 rs746600123 |
331 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770462556 CA4496498 |
331 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496496 rs777254234 |
332 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758348350 CA4496495 |
332 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA167053258 rs1003335656 |
334 | Q>R | No |
ClinGen TOPMed |
|
|
CA369346770 rs1159517993 |
337 | G>D | No |
ClinGen gnomAD |
|
|
CA4496492 rs754847998 |
338 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369346759 rs1393715665 |
338 | K>N | No |
ClinGen gnomAD |
|
|
rs1434258000 CA369346732 |
340 | R>K | No |
ClinGen gnomAD |
|
|
CA369346719 rs1309389203 |
341 | K>E | No |
ClinGen TOPMed |
|
|
rs370311970 CA4496491 |
341 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4496490 rs757406904 |
343 | L>F | No |
ClinGen ExAC TOPMed |
|
|
rs757406904 CA4496489 |
343 | L>V | No |
ClinGen ExAC TOPMed |
|
|
CA369346651 rs1219962864 |
345 | S>F | No |
ClinGen gnomAD |
|
|
rs1484632704 CA369346631 |
347 | T>N | No |
ClinGen gnomAD |
|
|
CA4496488 rs751700710 |
348 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4496486 rs763587537 |
350 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1020562851 CA167052274 |
351 | C>Y | No |
ClinGen TOPMed |
|
|
rs777069802 CA4496465 |
352 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs760340729 CA4496463 |
354 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369346258 rs1396826876 |
356 | P>L | No |
ClinGen gnomAD |
|
|
rs772897360 CA4496462 |
357 | E>A | No |
ClinGen ExAC |
|
|
rs879027504 CA167052254 |
357 | E>K | No |
ClinGen Ensembl |
|
|
rs771678014 CA4496461 |
358 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369346247 rs1296755107 |
358 | A>V | No |
ClinGen gnomAD |
|
|
rs747720055 CA4496460 |
361 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496458 rs768650952 |
363 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs749112130 CA4496457 |
365 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs779929473 CA4496456 |
366 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1414978078 CA369346198 |
366 | C>Y | No |
ClinGen gnomAD |
|
|
rs36057801 CA4496455 |
368 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1258023705 CA369346182 |
368 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1012315022 CA167052201 |
369 | L>H | No |
ClinGen TOPMed |
|
|
rs1012315022 CA369346178 |
369 | L>P | No |
ClinGen TOPMed |
|
|
rs1267091458 CA369346170 |
370 | H>Q | No |
ClinGen TOPMed |
|
|
CA167052200 rs959835138 |
371 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA369346166 rs745637947 |
371 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1241899 CA4496454 rs745637947 |
371 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA369346162 rs1200425591 |
372 | E>* | No |
ClinGen gnomAD |
|
|
CA369346164 rs1200425591 |
372 | E>K | No |
ClinGen gnomAD |
|
|
CA369346139 rs1585417538 |
374 | V>G | No |
ClinGen Ensembl |
|
|
rs752884228 CA4496451 |
374 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 378 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369346100 rs778804495 |
378 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496450 rs778804495 |
378 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs527913585 CA4496448 |
379 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM173551 rs755516464 CA4496449 |
379 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1333998343 CA369346072 |
381 | S>F | No |
ClinGen gnomAD |
|
|
rs750778049 CA4496445 |
382 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761395879 CA167052147 |
387 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761395879 CA4496443 |
387 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1369794625 CA369345984 |
390 | V>A | No |
ClinGen gnomAD |
|
|
CA369345986 rs1369794625 |
390 | V>G | No |
ClinGen gnomAD |
|
|
CA4496442 rs201325806 |
391 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138959450 CA4496441 |
391 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138959450 CA369345975 |
391 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1180497503 CA369345967 |
392 | P>L | No |
ClinGen gnomAD |
|
|
CA167052137 rs887120532 |
392 | P>S | No |
ClinGen gnomAD |
|
|
CA369345973 rs887120532 |
392 | P>T | No |
ClinGen gnomAD |
|
|
rs200425658 CA4496438 |
393 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200425658 CA4496437 |
393 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444345973 CA369345903 |
401 | Q>* | No |
ClinGen TOPMed |
|
|
CA369345884 rs1239653090 |
402 | E>K | No |
ClinGen gnomAD |
|
|
rs1311899641 CA369345868 |
403 | E>* | No |
ClinGen gnomAD |
|
|
CA167052112 rs367832476 |
403 | E>G | No |
ClinGen ESP TOPMed |
|
|
rs1585417186 CA369345854 |
404 | Y>D | No |
ClinGen Ensembl |
|
|
CA4496431 rs753921638 |
404 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA4496429 CA369345843 rs377046958 |
405 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761483318 CA4496426 |
408 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1160167055 CA369345791 |
409 | S>A | No |
ClinGen gnomAD |
|
|
CA369345761 rs769405958 |
411 | I>M | No |
ClinGen gnomAD |
|
|
rs1246008513 CA369345740 |
412 | M>I | No |
ClinGen gnomAD |
|
|
rs1423163303 CA369345724 |
413 | H>L | No |
ClinGen Ensembl |
|
|
CA4496410 rs781557714 |
419 | S>C | No |
ClinGen ExAC |
|
|
CA4496409 rs538063823 |
422 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4496408 rs141250972 |
423 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1310765833 CA369345106 |
424 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1275791576 CA369345088 |
425 | S>T | No |
ClinGen gnomAD |
|
|
CA369345046 COSM1085819 rs1340573930 |
428 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs200279279 CA4496405 |
434 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1334498067 CA369344943 |
435 | W>* | No |
ClinGen gnomAD |
|
|
CA167051401 rs919316204 |
436 | S>F | No |
ClinGen TOPMed |
|
|
CA4496404 rs764777564 |
436 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA4496403 rs759580857 |
438 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs199762177 CA4496401 |
439 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179940846 CA369344881 |
439 | P>H | No |
ClinGen Ensembl |
|
|
rs199762177 CA4496402 |
439 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496400 rs147805611 |
440 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA167051396 rs944917030 |
440 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA369344769 rs1585415015 |
444 | K>E | No |
ClinGen Ensembl |
|
|
CA369344755 rs1186153205 |
445 | A>T | No |
ClinGen gnomAD |
|
|
CA369344733 rs1199094953 |
446 | S>Y | No |
ClinGen TOPMed |
|
|
CA369344650 rs1448353023 |
450 | K>N | No |
ClinGen TOPMed |
|
|
rs767828079 COSM1755100 CA167051358 |
451 | S>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs367680418 CA4496397 |
452 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201718417 CA4496395 |
454 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1178431320 CA369344469 |
459 | A>V | No |
ClinGen TOPMed |
|
|
rs745924675 CA369344467 |
460 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745924675 CA4496394 |
460 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 461 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369344421 rs1585414884 |
462 | R>Q | No |
ClinGen Ensembl |
|
|
rs564192275 CA4496393 |
462 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1585414873 CA369344364 |
465 | L>V | No |
ClinGen Ensembl |
|
|
rs754661647 CA4496367 |
466 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 469 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4496365 rs779546686 |
471 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs985375899 CA167050468 |
471 | G>S | No |
ClinGen TOPMed |
|
|
rs779546686 CA167050465 |
471 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA167050463 rs552493584 |
472 | V>M | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4496364 rs756036248 |
474 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1246776480 CA369344221 |
475 | V>A | No |
ClinGen gnomAD |
|
|
CA369344216 rs1350967476 |
476 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4496363 rs750326233 |
479 | D>V | No |
ClinGen ExAC |
|
|
rs761635016 CA4496361 |
480 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA4496359 rs765501910 |
482 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 483 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1585412459 CA369344152 |
485 | N>K | No |
ClinGen Ensembl |
|
|
rs752822228 CA4496357 |
487 | C>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1295304076 CA369344124 |
489 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs532265886 CA4496355 |
490 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759699055 CA4496356 |
490 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369344114 rs1305801189 |
491 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4496353 rs563204680 |
493 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562670557 CA167050379 COSM286523 |
493 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA4496352 rs773822202 |
495 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs976622568 CA167050350 |
496 | P>S | No |
ClinGen Ensembl |
|
|
rs1253820492 CA369344044 |
499 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 500 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs985813278 CA167050121 |
502 | A>V | No |
ClinGen TOPMed |
|
|
CA4496330 rs774884181 |
503 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs921928895 CA167050110 |
504 | S>G | No |
ClinGen TOPMed |
|
|
CA4496329 rs142215859 |
506 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4496327 rs537057371 |
507 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4496326 rs138896907 |
508 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138896907 CA4496325 |
508 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4496321 rs142700524 |
511 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4496322 rs757193461 |
511 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA369343967 rs1330003108 |
512 | C>S | No |
ClinGen gnomAD |
|
|
CA369343959 rs1465555406 |
513 | S>W | No |
ClinGen gnomAD |
|
|
rs752407713 CA4496318 |
515 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA4496319 rs377738102 |
515 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766694194 CA4496317 |
516 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs750517314 CA4496315 |
517 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756229022 CA4496316 |
517 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA4496313 rs775045616 |
518 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496312 rs775045616 |
518 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318539750 CA369343933 |
518 | S>R | No |
ClinGen TOPMed |
|
|
CA4496311 rs764663063 |
520 | T>I | No |
ClinGen ExAC gnomAD |
|
|
COSM106540 rs139844816 CA167050009 |
521 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs201630438 CA167050001 |
527 | A>V | No |
ClinGen 1000Genomes |
|
|
rs769501103 CA4496308 |
528 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496307 rs745447397 |
529 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968247433 CA369343858 |
530 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs776150522 CA4496306 |
530 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770382150 CA4496305 |
531 | G>S | Variant assessed as Somatic; 0.0003234 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1585411495 CA369343843 |
533 | K>Q | No |
ClinGen Ensembl |
|
|
CA369343831 rs1383487031 |
534 | G>V | No |
ClinGen gnomAD |
|
|
CA4496303 rs777731930 |
535 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369343801 rs1392671867 |
538 | V>G | No |
ClinGen gnomAD |
|
|
rs757501441 CA4496302 |
539 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1162352943 CA369343788 |
541 | R>W | No |
ClinGen gnomAD |
|
|
CA167049964 rs376509669 |
542 | L>M | No |
ClinGen ESP TOPMed |
|
|
CA167049955 rs201335059 |
544 | L>P | No |
ClinGen 1000Genomes |
|
|
CA4496301 rs747984171 |
546 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4496300 rs139497978 |
547 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA369343740 rs1439034603 |
549 | T>A | No |
ClinGen gnomAD |
|
|
rs750559331 CA4496298 |
549 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1183863552 CA369343734 |
550 | M>V | No |
ClinGen gnomAD |
|
|
rs767824085 CA4496297 |
551 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA369343716 rs1299466069 |
552 | Q>P | No |
ClinGen TOPMed |
|
|
rs1340670898 CA369343707 |
553 | Q>R | No |
ClinGen TOPMed |
|
|
CA4496278 rs779147748 |
555 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA369343168 rs1403293688 |
559 | D>V | No |
ClinGen TOPMed |
|
|
rs146344312 CA4496275 |
559 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369343156 rs1414239893 |
560 | P>L | No |
ClinGen TOPMed |
|
|
rs267601305 CA167047389 |
560 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 561 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369343149 rs1332653928 |
561 | E>G | No |
ClinGen TOPMed |
|
|
rs1481481458 CA369343133 |
562 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA369343113 rs1244199015 |
565 | I>T | No |
ClinGen gnomAD |
|
|
CA4496272 rs759860243 |
565 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs992305737 CA167047360 |
566 | N>K | No |
ClinGen gnomAD |
|
|
rs1585404086 CA369343102 |
567 | C>R | No |
ClinGen Ensembl |
|
|
rs754202092 CA4496271 |
568 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs933246397 CA167047322 |
569 | A>V | No |
ClinGen TOPMed |
|
|
CA369343029 rs1345698038 |
574 | G>R | No |
ClinGen TOPMed |
|
|
CA369342976 rs1255541651 |
582 | A>V | No |
ClinGen gnomAD |
|
|
rs974637219 CA167047242 |
585 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA369342948 rs1247449539 |
587 | R>Q | No |
ClinGen TOPMed |
|
|
rs761361253 CA4496266 |
587 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774193677 CA4496265 |
588 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1443083169 CA369342872 |
592 | Q>R | No |
ClinGen gnomAD |
|
|
rs1163019493 CA369342845 |
594 | H>L | No |
ClinGen gnomAD |
|
|
CA369342816 rs754218720 |
596 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167046718 rs976755427 |
596 | C>Y | No |
ClinGen Ensembl |
|
|
CA369342812 rs1165820901 |
597 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4496253 rs766685161 |
597 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496251 rs750122756 |
604 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA167046691 rs1018337525 |
605 | G>A | No |
ClinGen gnomAD |
|
|
rs1018337525 CA369342721 |
605 | G>E | No |
ClinGen gnomAD |
|
|
CA4496250 rs767164380 |
605 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA369342717 rs1292264894 |
606 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 606 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369342699 rs1456210530 |
607 | V>A | No |
ClinGen Ensembl |
|
|
rs202008054 CA4496249 |
608 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA167046671 rs202008054 |
608 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 610 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351204880 CA369342664 |
611 | E>A | No |
ClinGen gnomAD |
|
|
CA369342647 rs1308531216 |
612 | F>L | No |
ClinGen gnomAD |
|
|
CA369342645 rs1184061857 |
613 | S>G | No |
ClinGen TOPMed |
|
|
CA4496248 rs200137538 |
614 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4496247 rs763950310 |
615 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1175728751 CA369342574 |
619 | V>A | No |
ClinGen TOPMed |
|
|
CA4496244 rs769664175 |
623 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745637800 CA4496243 |
624 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496242 rs773349395 |
625 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs142039334 CA167046602 |
626 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs985046808 CA167045638 |
628 | F>L | No |
ClinGen Ensembl |
|
|
rs368242889 CA4496210 |
629 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369342341 rs1585400020 |
631 | W>G | No |
ClinGen Ensembl |
|
|
CA369342324 rs1167914842 |
633 | I>F | No |
ClinGen TOPMed |
|
|
rs749279155 CA167045631 |
635 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1335562920 CA369342301 |
636 | S>N | No |
ClinGen TOPMed |
|
|
rs1452717344 CA369342304 |
636 | S>R | No |
ClinGen TOPMed |
|
|
rs765327085 CA4496208 |
639 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4496207 rs759463242 |
640 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA369342269 rs1372199462 |
641 | S>F | No |
ClinGen gnomAD |
|
|
CA369342271 rs1212638571 |
641 | S>P | No |
ClinGen TOPMed |
|
|
rs1372199462 CA369342268 |
641 | S>Y | No |
ClinGen gnomAD |
|
|
rs760361048 CA4496204 |
642 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA369342257 rs1253797890 |
643 | Y>D | No |
ClinGen gnomAD |
|
| TCGA novel | 646 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768858908 CA4496202 |
647 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs376904907 CA4496203 |
647 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1085814 CA4496201 rs763076031 |
650 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs138966518 CA4496199 |
651 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1430953255 CA369342187 |
654 | V>L | No |
ClinGen TOPMed |
|
|
CA369342189 rs1430953255 |
654 | V>M | No |
ClinGen TOPMed |
|
|
rs1312372685 CA369342180 |
655 | L>P | No |
ClinGen gnomAD |
|
|
rs1403305265 CA369342182 |
655 | L>V | No |
ClinGen TOPMed |
|
|
rs544358977 CA4496194 |
660 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4496195 rs747306292 |
660 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167045586 rs112235885 |
662 | K>R | No |
ClinGen Ensembl |
|
|
rs1298452671 CA369342125 |
663 | Q>H | No |
ClinGen gnomAD |
|
|
CA167045584 rs150657265 |
665 | Q>R | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 666 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758112199 CA4496192 |
667 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 668 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369342089 rs1162650274 |
669 | G>D | No |
ClinGen gnomAD |
|
|
CA4496191 rs752272216 |
670 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4496189 rs1285022652 |
670 | R>Q | No |
ClinGen TOPMed |
|
|
CA369342067 rs1437382928 |
673 | A>S | No |
ClinGen gnomAD |
|
|
CA369342069 rs1437382928 |
673 | A>T | No |
ClinGen gnomAD |
|
|
rs1251320131 CA369342052 |
675 | D>G | No |
ClinGen gnomAD |
|
|
CA4496187 rs770020249 |
676 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766192368 CA4496185 |
677 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4496184 rs760582579 |
680 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs928742965 CA167045529 |
683 | T>S | No |
ClinGen Ensembl |
|
|
CA4496182 rs764312732 |
685 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445828230 CA369341948 |
687 | T>I | No |
ClinGen TOPMed |
|
|
CA4496180 rs202038629 |
689 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143806815 COSM1085812 CA4496178 |
690 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs771339314 CA4496176 |
693 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA4496177 rs777236933 |
693 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4496155 rs186391437 |
694 | L>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4496154 rs186391437 |
694 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145901674 CA4496152 |
695 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4496153 rs141164229 |
695 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1320869990 CA369341817 |
697 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA369341815 rs1320869990 |
697 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 698 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4496149 rs371295042 |
699 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375237528 CA4496148 |
699 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs918535705 CA167044984 |
699 | K>N | No |
ClinGen TOPMed |
|
|
CA369341779 rs1302983962 |
700 | V>A | No |
ClinGen TOPMed |
|
|
rs745765399 CA4496147 |
700 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1429821165 CA369341773 |
701 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4496146 rs781076043 |
702 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 702 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4496145 rs757091754 |
703 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1450289652 CA369341754 |
703 | S>N | No |
ClinGen gnomAD |
|
|
CA369341739 rs1177188515 |
704 | C>* | No |
ClinGen gnomAD |
|
|
rs1405452157 CA369341742 |
704 | C>Y | No |
ClinGen gnomAD |
|
|
rs985123978 CA167044960 |
707 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756525262 CA4496144 |
711 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759916579 CA4496143 |
711 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA369341651 rs1244178875 |
713 | P>L | No |
ClinGen gnomAD |
|
|
CA4496139 rs138655016 COSM1270446 |
717 | V>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs761291094 CA4496138 |
718 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA369341589 rs1179960831 |
720 | S>T | No |
ClinGen gnomAD |
|
|
CA4496135 rs762337595 |
727 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs372957920 CA167044925 |
730 | T>S | No |
ClinGen ESP |
|
|
CA4496133 COSM1085811 rs370475929 |
731 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4496132 COSM204432 rs748845351 |
733 | M>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1337283265 CA369341438 |
734 | D>E | No |
ClinGen gnomAD |
|
|
CA369341442 rs1381882727 |
734 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 734 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 736 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs181109242 CA4496131 |
736 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1328500587 CA369341406 |
737 | I>M | No |
ClinGen gnomAD |
|
|
rs1352832076 CA369341416 |
737 | I>V | No |
ClinGen gnomAD |
|
|
rs142019952 CA167044861 |
740 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs771520093 CA167044859 |
744 | A>T | No |
ClinGen gnomAD |
|
|
CA369341298 rs1185957733 |
747 | A>V | No |
ClinGen gnomAD |
|
|
rs1242419052 CA369341295 |
748 | A>R | No |
ClinGen gnomAD |
|
|
CA369341292 rs1562942119 |
748 | A>S | No |
ClinGen Ensembl |
|
|
CA369341286 rs1462310198 |
748 | A>W | No |
ClinGen gnomAD |
No associated diseases with A4D1P6
No regional properties for A4D1P6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for A4D1P6 | |||
4 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. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| extrinsic component of endosome membrane | The component of an endosome membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| late endosome membrane | The lipid bilayer surrounding a late endosome. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidylinositol 3-kinase regulator activity | Modulates the activity of any of the phosphatidylinositol 3-kinases (PI3Ks). Regulatory subunits can link a PI3K catalytic subunit to upstream signaling events and help position the catalytic subunits close to their lipid substrates. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| early endosome to late endosome transport | The directed movement of substances, in membrane-bounded vesicles, from the early sorting endosomes to the late sorting endosomes; transport occurs along microtubules and can be experimentally blocked with microtubule-depolymerizing drugs. |
| regulation of phosphatidylinositol 3-kinase activity | Any process that modulates the frequency, rate or extent of phosphatidylinositol 3-kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to an inositol lipid at the 3' position of the inositol ring. |
| regulation of protein catabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEAVERTDE | LVREYLLFRG | FTHTLRQLDA | EIKADKEKGF | RVDKIVDQLQ | QLMQVYDLAA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LRDYWSYLER | RLFSRLEDIY | RPTIHKLKTS | LFRFYLVYTI | QTNRNDKAQE | FFAKQATELQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NQAEWKDWFV | LPFLPSPDTN | PTFATYFSRQ | WADTFIVSLH | NFLSVLFQCM | PVPVILNFDA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ECQRTNQVQE | ENEVLRQKLF | ALQAEIHRLK | KEEQQPEEEE | ALVQHKLPPY | VSNMDRLGDS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ELAMVCSQRN | ASLSQSPRVG | FLSSLLPQSK | KSPSRLSPAQ | GPPQPQSSAK | KESFGGQGTK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GKDPTSGAKD | GKSLLSGLAT | GESGWSQHRQ | RRLQDHGKER | KELFSTTTSQ | CAEKKPEASG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PEAEPCPELH | TEPVEPLTRA | SSAGPEGGGV | RPEQPFIVLG | QEEYGEHHSS | IMHCRVDCSG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RRVASLDVDG | VIKVWSFNPI | MQTKASSISK | SPLLSLEWAT | KRDRLLLLGS | GVGTVRLYDT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EAKKNLCEIN | INDNMPRILS | LACSPNGASF | VCSAAAPSLT | SQVDFSAPDI | GSKGMNQVPG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RLLLWDTKTM | KQQLQFSLDP | EPIAINCTAF | NHNGNLLVTG | AADGVIRLFD | MQQHECAMSW |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RAHYGEVYSV | EFSYDENTVY | SIGEDGKFIQ | WNIHKSGLKV | SEYSLPSDAT | GPFVLSGYSG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YKQVQVPRGR | LFAFDSEGNY | MLTCSATGGV | IYKLGGDEKV | LESCLSLGGH | RAPVVTVDWS |
| 730 | 740 | ||||
| TAMDCGTCLT | ASMDGKIKLT | TLLAHKA |