P41218
PR
Gene name |
MNDA |
Protein name |
Myeloid cell nuclear differentiation antigen |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4332 |
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
5 structures for P41218
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DBG | NMR | - | A | 1-90 | PDB |
| 5H7Q | X-ray | 145 A | A | 4-98 | PDB |
| 5WPZ | X-ray | 200 A | A/B/C/D/E/F | 4-98 | PDB |
| 8I6K | X-ray | 240 A | A | 199-407 | PDB |
| AF-P41218-F1 | Predicted | AlphaFoldDB |
418 variants for P41218
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA31302682 rs946379212 |
2 | V>A | No |
ClinGen Ensembl |
|
|
CA31302693 rs905408372 |
3 | N>K | No |
ClinGen Ensembl |
|
|
rs1359483092 CA343036182 |
4 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 4 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1055167156 CA31302699 |
5 | Y>N | No |
ClinGen TOPMed |
|
|
CA1185470 rs771692822 |
7 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs777044836 CA343036267 |
8 | I>M | No |
ClinGen ExAC TOPMed |
|
|
CA343036260 rs1056772229 |
8 | I>N | No |
ClinGen gnomAD |
|
|
CA31302706 rs1056772229 |
8 | I>T | No |
ClinGen gnomAD |
|
|
rs897984440 COSM207118 CA31302707 |
9 | L>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs200492348 CA1185472 |
10 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 11 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1185474 rs143569006 |
17 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343036424 rs1558056521 |
18 | D>E | No |
ClinGen Ensembl |
|
|
rs1472484509 CA343036415 |
18 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA526676664 rs1182992132 |
20 | Y>* | No |
ClinGen gnomAD |
|
|
rs1387604482 CA343036456 |
21 | H>N | No |
ClinGen gnomAD |
|
| TCGA novel | 23 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1185477 rs763078972 |
25 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs565293601 CA1185475 |
25 | I>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1158413738 CA343036532 |
26 | K>N | No |
ClinGen gnomAD |
|
|
CA31302755 rs1010850436 |
27 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1020867784 CA31302761 |
27 | S>Y | No |
ClinGen TOPMed |
|
|
rs142716620 CA1185480 |
28 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 28 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1185481 rs375021094 |
31 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1394049672 CA343036583 |
32 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA31302790 rs1007525613 |
36 | T>S | No |
ClinGen Ensembl |
|
|
rs529330735 CA1185483 |
37 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 38 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343036736 rs1308270312 |
39 | M>I | No |
ClinGen gnomAD |
|
|
CA343036722 rs1237788276 |
39 | M>K | No |
ClinGen gnomAD |
|
|
CA343036725 rs1237788276 |
39 | M>T | No |
ClinGen gnomAD |
|
|
CA1185486 rs145135870 |
40 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1185485 rs145135870 |
40 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1185487 rs746839974 |
40 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs745431098 CA1185489 COSM3418193 |
41 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs144926525 CA1185488 |
41 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343036795 rs1245584050 |
42 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1185490 rs771734284 |
42 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM373932 rs775045161 CA1185491 |
43 | Y>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM3700514 rs1456827898 CA343036809 |
43 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA343036818 rs1388711462 |
44 | N>D | No |
ClinGen TOPMed |
|
|
CA1185492 rs762231041 |
48 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1558056590 CA343036896 |
48 | I>V | No |
ClinGen Ensembl |
|
|
rs142166364 CA1185494 |
49 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142166364 CA1185493 |
49 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140390501 CA1185495 |
50 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1185497 rs547914977 |
52 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1185496 rs547914977 |
52 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1185500 rs565724910 |
53 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1185501 rs767743040 |
55 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA343036946 rs1444498594 |
55 | K>N | No |
ClinGen TOPMed gnomAD |
|
| rs750084919 | 55 | K>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750084919 | 56 | F>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA31302961 rs1018000326 |
58 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs377201680 CA1185504 |
59 | V>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1185503 rs201766714 |
59 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA343036983 rs1265103889 |
61 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs774869058 CA1185506 |
61 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774869058 CA31303002 |
61 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1185507 rs778767841 COSM245739 |
62 | L>P | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1185508 rs745353658 |
64 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200437746 CA1185510 |
65 | L>Q | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA1185511 rs746675050 |
66 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1185512 rs138800310 |
67 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 68 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773704890 CA1185513 |
68 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 69 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343037033 rs1558056666 |
70 | K>E | No |
ClinGen Ensembl |
|
|
rs1199627553 CA343037040 |
71 | D>N | No |
ClinGen gnomAD |
|
|
CA1185516 rs771446027 |
72 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 74 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1185517 rs774756701 |
75 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs147137816 CA31303065 COSM106537 |
75 | L>P | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA343037069 rs774756701 |
75 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1463804767 CA343037086 |
77 | N>K | No |
ClinGen TOPMed |
|
|
CA1185518 rs759618430 |
78 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343037089 rs1399311362 |
78 | L>V | No |
ClinGen TOPMed |
|
|
CA1185520 rs775626811 |
79 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767514139 CA1185519 |
79 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338585596 COSM897905 CA343037101 |
80 | N>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs760884810 CA1185521 |
81 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs764362038 CA1185522 |
81 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs753611646 CA1185523 |
83 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1185524 COSM381186 rs757085230 |
83 | R>Q | lung Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM424265 rs765181668 CA1185525 |
85 | E>D | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA343037132 rs1289639008 |
85 | E>G | No |
ClinGen gnomAD |
|
|
CA343037143 rs1222819443 |
87 | S>T | No |
ClinGen gnomAD |
|
|
rs750351527 CA1185526 |
89 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1193668927 CA343038400 |
90 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 91 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 91 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1185547 rs201456265 |
92 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1185549 rs148953771 |
93 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1386979889 CA343038464 |
94 | K>T | No |
ClinGen TOPMed |
|
|
rs1260924365 CA343038488 |
96 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 97 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 99 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1185551 rs199811474 |
99 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1185289295 CA343038553 |
100 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1461720617 CA343038548 |
100 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779144210 CA1185553 |
101 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343038578 rs1419959235 |
102 | K>N | No |
ClinGen TOPMed gnomAD |
|
| rs751496931 | 104 | I>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751496931 | 104 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1185556 rs573928023 |
104 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1372213021 CA343038600 |
104 | I>V | No |
ClinGen TOPMed |
|
|
rs1365747691 CA343038615 |
105 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA343038656 rs1172073937 |
110 | G>D | No |
ClinGen gnomAD |
|
|
rs200188147 CA1185557 |
112 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1185560 rs201258003 |
114 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1185559 rs201258003 |
114 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1329858284 CA343038676 |
114 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA343038691 rs1307344451 |
117 | T>A | No |
ClinGen gnomAD |
|
|
COSM216875 rs559502950 CA1185563 |
118 | A>T | Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1011604935 CA31303796 |
120 | N>S | No |
ClinGen Ensembl |
|
|
rs1323565262 CA343038719 |
121 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1185565 rs762855476 |
123 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA343038743 rs745597511 |
124 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745597511 COSM897907 CA1185566 |
124 | S>L | endometrium Variant assessed as Somatic; 4.639e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1185568 rs759064821 |
125 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198366376 CA343038779 |
126 | A>E | No |
ClinGen gnomAD |
|
|
rs867442322 CA31303806 |
127 | R>K | No |
ClinGen Ensembl |
|
|
rs1430111534 CA343038807 |
128 | G>R | No |
ClinGen gnomAD |
|
|
CA1185570 rs752324581 |
131 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343038869 rs752324581 |
131 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1185571 rs755710921 |
132 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1462883737 CA343038903 |
133 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA343038905 rs1462883737 |
133 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs904066012 CA31304159 |
135 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1185587 rs767623674 |
136 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM358237 CA1185588 rs752129651 |
136 | R>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA343039083 rs1558057277 |
136 | R>S | No |
ClinGen Ensembl |
|
|
CA343039130 rs1252358170 |
139 | P>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 139 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1185590 rs763618518 |
139 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015920906 CA31304172 |
142 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs753550920 CA1185592 |
143 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753550920 CA1185591 |
143 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766736095 CA1185593 |
144 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA343039186 rs1486215394 |
145 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1412252185 CA343039198 |
146 | A>G | No |
ClinGen gnomAD |
|
|
CA343039196 rs1188847514 |
146 | A>T | No |
ClinGen gnomAD |
|
|
rs751989369 CA1185594 |
147 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs755462956 CA1185596 |
148 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755462956 CA1185595 |
148 | R>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 149 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756248918 CA1185598 |
149 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1185600 rs376308458 |
152 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 152 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1185602 rs774281008 |
154 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs555702657 CA1185603 |
155 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 155 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_034107 rs35417083 CA1185604 |
156 | S>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA343039273 rs1231517574 |
157 | K>N | No |
ClinGen TOPMed |
|
|
rs775531662 CA1185605 |
157 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs760058487 CA1185606 |
158 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1558057321 CA343039276 |
158 | P>S | No |
ClinGen Ensembl |
|
|
rs776081749 CA1185609 COSM3979958 |
159 | P>L | ovary Variant assessed as Somatic; 9.241e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1317651133 CA343039283 |
159 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs373529778 CA343039286 |
160 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 160 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1185611 rs373529778 |
160 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1185612 rs751897233 |
161 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs758460453 CA31304321 |
162 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1185614 rs767870608 |
163 | G>A | No |
ClinGen ExAC gnomAD |
|
|
COSM414397 rs767870608 CA343039304 |
163 | G>E | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs979294246 CA31304348 |
164 | A>G | No |
ClinGen Ensembl |
|
|
rs947487276 CA31304333 |
164 | A>T | No |
ClinGen TOPMed |
|
|
rs1156496876 CA343039316 COSM1499045 CA343039317 |
165 | S>R | Variant assessed as Somatic; 0.0 impact. lung [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs753268940 CA1185615 |
167 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753268940 CA343039324 |
167 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 170 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343039343 rs1558057358 |
170 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs777909696 CA1185617 |
171 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1356883553 CA343039358 |
172 | H>R | No |
ClinGen gnomAD |
|
|
CA1185618 rs749443667 |
173 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA1185619 rs749443667 |
173 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA343039370 rs1384779988 COSM1180073 |
174 | P>Q | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1185623 rs146513719 |
175 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1185622 rs146513719 |
175 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA31304378 rs866225535 |
176 | P>H | No |
ClinGen gnomAD |
|
|
rs1276619835 CA343039377 |
176 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746970864 CA1185624 |
177 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 177 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1185625 rs768544886 |
178 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs148142374 CA1185626 |
178 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1181540512 CA343039392 |
179 | S>P | No |
ClinGen gnomAD |
|
|
COSM1158018 rs1055021354 CA31304411 |
180 | S>L | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs764836441 CA1185628 |
180 | S>T | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA343039405 rs1480747048 |
181 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
CA343039406 rs1480747048 |
181 | S>L | No |
ClinGen TOPMed |
|
|
CA1185630 rs759844357 |
182 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1185631 rs150421488 |
182 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343039407 rs759844357 |
182 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs753075854 CA1185632 |
183 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281606604 CA343039432 |
186 | T>S | No |
ClinGen TOPMed |
|
|
rs867226822 CA31304418 COSM897908 |
187 | S>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA343039457 rs1558057428 |
190 | P>A | No |
ClinGen Ensembl |
|
|
CA1185634 COSM1127312 rs138480183 |
190 | P>L | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA343040597 rs1276424430 |
191 | N>H | No |
ClinGen TOPMed |
|
|
rs1373560853 CA343040606 |
191 | N>I | No |
ClinGen gnomAD |
|
|
rs755919776 CA31305893 |
191 | N>K | No |
ClinGen TOPMed |
|
|
rs925703955 CA31305894 |
192 | Q>R | No |
ClinGen Ensembl |
|
|
CA31305898 rs991156179 |
193 | E>A | No |
ClinGen Ensembl |
|
|
COSM1688875 rs1161457689 CA343040627 |
193 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1384325949 CA343040653 |
195 | Q>* | No |
ClinGen gnomAD |
|
|
COSM339714 rs199559763 CA31305907 |
195 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
|
rs750597939 CA1185660 |
195 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343040671 rs1165671873 COSM321720 |
196 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs780190760 CA1185662 |
198 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA31305911 rs780190760 |
198 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1185661 rs758635073 |
198 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA1185663 rs199517425 |
200 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA343040709 COSM1688876 rs1328710698 |
200 | V>M | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs199559905 CA1185665 |
201 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1185666 rs748086845 CA1185667 |
201 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs199559905 CA1185664 |
201 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146915405 CA1185671 |
202 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146915405 CA31305980 |
202 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201321344 CA1185669 |
202 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1185668 rs201321344 |
202 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1185673 rs761052862 |
203 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1185674 rs769156747 |
203 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA343040743 rs769156747 |
203 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 204 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343040771 rs777212094 |
205 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1046005233 CA31306014 |
205 | N>S | No |
ClinGen gnomAD |
|
|
rs1046005233 CA31306009 |
205 | N>T | No |
ClinGen gnomAD |
|
|
CA343040802 rs1571660134 |
208 | Q>P | No |
ClinGen Ensembl |
|
|
CA1185677 rs765906678 |
211 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs546757621 CA1185678 |
213 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371223975 CA1185679 |
213 | T>R | No |
ClinGen ESP |
|
|
CA343040879 rs1453239445 |
214 | V>M | No |
ClinGen gnomAD |
|
|
CA1185681 rs762985440 |
215 | V>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 216 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751749068 CA1185683 |
216 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs751749068 CA343040908 |
216 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1185682 rs766581596 |
216 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754740104 CA343040915 |
217 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343040914 rs754740104 |
217 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1185684 rs754740104 |
217 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454906002 CA343040918 |
218 | K>Q | No |
ClinGen gnomAD |
|
|
CA343040951 rs1333628896 |
220 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1185685 rs767300186 COSM3771491 |
221 | A>V | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1185687 rs756031194 |
223 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA1185688 rs550912459 |
228 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748799309 CA343041062 |
229 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748799309 CA1185689 |
229 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343041056 rs1186724618 |
229 | E>K | No |
ClinGen TOPMed |
|
|
CA1185691 rs778571787 |
232 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA343041147 rs1182755773 TCGA novel |
235 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
rs569229227 CA343041165 |
236 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1185694 rs777126269 |
237 | H>D | No |
ClinGen ExAC TOPMed |
|
|
rs1558058105 CA343041185 |
238 | A>D | No |
ClinGen Ensembl |
|
|
rs748575986 CA1185695 |
238 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343041181 rs748575986 |
238 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31306136 rs996771509 |
240 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1471205627 CA343041255 |
243 | K>R | No |
ClinGen gnomAD |
|
|
rs1558058119 CA343041283 |
244 | T>A | No |
ClinGen Ensembl |
|
|
rs1296824635 CA343041290 |
244 | T>I | No |
ClinGen gnomAD |
|
|
CA1185698 rs150733783 |
247 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1185699 rs763037468 |
249 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1009209640 CA31306169 |
251 | V>I | No |
ClinGen Ensembl |
|
|
rs774562125 CA343041519 |
253 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1185701 rs774562125 |
253 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1185703 rs536275913 |
254 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 254 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343041556 rs1473550099 |
255 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel rs752465958 CA1185704 |
256 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs144094005 COSM1215320 CA343041622 CA1185706 |
258 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs755941332 CA1185705 |
258 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA343041658 rs1196654731 |
260 | F>C | No |
ClinGen gnomAD |
|
|
rs1252915942 CA343041660 |
260 | F>L | No |
ClinGen gnomAD |
|
|
rs867332707 CA31306182 |
262 | R>K | No |
ClinGen Ensembl |
|
|
CA343041724 rs1558058155 |
264 | K>E | No |
ClinGen Ensembl |
|
|
CA1185709 rs367827105 |
266 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1185711 rs758105640 |
268 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745445772 CA1185710 |
268 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1462802228 CA343041842 |
269 | S>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 270 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199696767 CA1185712 |
271 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343041915 rs1402648332 |
273 | E>A | No |
ClinGen gnomAD |
|
|
COSM1559898 CA343041941 rs773707693 |
276 | G>E | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA343041938 rs1571660418 |
276 | G>R | No |
ClinGen Ensembl |
|
|
rs773707693 CA1185715 |
276 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771531713 CA1185717 |
277 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186394390 CA343041953 |
278 | M>T | No |
ClinGen TOPMed |
|
|
rs1306766674 CA343041968 |
280 | I>T | No |
ClinGen gnomAD |
|
|
rs193258470 CA1185718 |
282 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1185719 rs759660450 |
283 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA343041987 rs1276427307 |
283 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1185720 rs772250204 |
284 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343042000 rs1185345854 |
285 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA343042001 rs1185345854 |
285 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs374060185 CA1185722 COSM1491827 |
285 | S>P | lung kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA1185724 VAR_012055 rs1056771 |
286 | V>L | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs1056771 CA1185723 |
286 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1288507859 CA343042014 |
287 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 291 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343042088 rs1228068488 |
292 | N>H | No |
ClinGen TOPMed |
|
|
CA343042120 rs1162503615 |
294 | E>K | No |
ClinGen gnomAD |
|
|
rs758015901 CA1185728 |
297 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA343042200 rs1361192281 |
299 | I>F | No |
ClinGen gnomAD |
|
|
rs778942473 CA31306325 |
299 | I>T | No |
ClinGen TOPMed |
|
|
CA1185730 rs751266784 |
301 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1215319 CA1185731 rs751266784 |
301 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs751266784 CA1185732 |
301 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749719653 CA1185734 |
305 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA343042292 COSM897915 rs749719653 |
305 | K>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1185735 rs771318900 |
306 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1185736 rs779512356 |
307 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1185737 rs745906221 |
307 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA31306349 rs971117295 |
308 | K>R | No |
ClinGen Ensembl |
|
|
rs772154397 CA1185738 |
309 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1486490696 CA343042382 |
311 | Q>H | No |
ClinGen gnomAD |
|
|
rs982072462 CA31306353 |
312 | L>F | No |
ClinGen Ensembl |
|
|
CA343042405 rs1191012857 |
313 | Y>C | No |
ClinGen gnomAD |
|
|
CA343042421 rs1558058262 |
314 | K>T | No |
ClinGen Ensembl |
|
|
rs1571660569 CA343042433 |
315 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 317 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142876368 CA1185739 |
318 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1185740 rs760882833 |
319 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA343042521 rs1182663649 |
321 | V>A | No |
ClinGen gnomAD |
|
|
CA31306366 rs267598110 |
321 | V>M | No |
ClinGen Ensembl |
|
|
rs1406674143 COSM399840 CA343042531 |
322 | Y>H | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA343042542 rs1344046129 |
323 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA343042560 rs1448833008 |
324 | L>* | No |
ClinGen TOPMed |
|
|
rs370963466 CA1185743 |
324 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765048342 CA1185744 |
325 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1188106148 CA343042596 |
326 | M>T | No |
ClinGen TOPMed |
|
|
CA1185746 rs201655964 |
328 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1185747 rs765988646 |
329 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1185765 rs766478272 |
330 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766478272 CA1185766 |
330 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343043593 rs1281209854 |
330 | K>N | No |
ClinGen gnomAD |
|
|
CA1185767 rs759125507 |
331 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs375252397 CA1185768 |
332 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369468603 CA343043636 |
333 | H>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA343043631 rs1231949399 |
333 | H>R | No |
ClinGen gnomAD |
|
|
CA1185772 COSM529909 rs372443942 |
335 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA31307828 rs1002965819 |
335 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1185773 rs539078156 |
336 | N>H | No |
ClinGen 1000Genomes TOPMed |
|
|
rs958733301 CA31307864 |
337 | T>I | No |
ClinGen TOPMed |
|
|
rs1396221507 CA343043730 |
338 | I>F | No |
ClinGen TOPMed |
|
| TCGA novel | 338 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757498729 CA1185775 |
339 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA31307867 rs867048659 |
340 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1407991310 CA343043800 |
341 | I>M | No |
ClinGen gnomAD |
|
|
rs1463670578 CA343043792 |
341 | I>T | No |
ClinGen TOPMed |
|
|
CA1185777 rs750845487 |
342 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA343043866 rs1411842518 |
344 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 345 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA31307878 rs901430777 |
346 | G>E | No |
ClinGen gnomAD |
|
|
CA343043886 rs1571661879 |
346 | G>R | No |
ClinGen Ensembl |
|
|
rs1173055577 CA526676703 |
347 | S>* | No |
ClinGen gnomAD |
|
|
CA31307882 rs914856154 |
347 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1431587265 CA343043929 |
347 | S>P | No |
ClinGen TOPMed |
|
|
CA1185781 rs755110706 |
348 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343044007 rs1214354673 |
349 | D>G | No |
ClinGen gnomAD |
|
|
CA343043997 rs1196161846 |
349 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1185782 rs781216436 |
350 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1558058896 CA343044037 |
351 | V>M | No |
ClinGen Ensembl |
|
|
CA1185783 rs369069905 |
352 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149242106 CA1185786 |
354 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749141192 CA1185788 |
355 | K>I | No |
ClinGen ExAC |
|
|
rs1248383214 CA343044184 |
356 | W>* | No |
ClinGen gnomAD |
|
|
CA1185789 RCV000922516 rs115388526 |
356 | W>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1185791 COSM349820 rs758918974 |
357 | H>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA31307945 rs111691948 |
357 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
VAR_020483 CA1185790 rs2276403 |
357 | H>Y | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1390505767 CA343044235 |
358 | N>K | No |
ClinGen gnomAD |
|
|
CA343044288 rs1335703792 |
361 | C>G | No |
ClinGen TOPMed |
|
|
rs143637461 CA1185794 |
363 | K>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575016801 CA1185795 |
364 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1325214237 CA343044481 |
367 | L>F | No |
ClinGen gnomAD |
|
|
rs750755720 CA1185797 |
367 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1185799 rs373646723 |
368 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142597301 CA343044521 |
368 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1185800 rs142597301 |
368 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA343044544 rs1156907558 |
369 | L>P | No |
ClinGen TOPMed |
|
|
rs1289119947 CA343044563 |
370 | F>L | No |
ClinGen gnomAD |
|
|
CA1185801 rs201469217 |
370 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1185802 rs781326000 |
372 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748230240 CA1185803 COSM1499039 |
373 | Q>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1558058973 CA343044699 |
375 | R>K | No |
ClinGen Ensembl |
|
|
CA1185805 rs200310775 |
376 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA31308015 rs200310775 |
376 | T>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1233126554 CA343044742 |
377 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA343044785 rs1241085356 |
378 | D>G | No |
ClinGen TOPMed |
|
|
CA1185806 rs139902913 |
379 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1185807 rs146787746 |
379 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146787746 CA1185808 |
379 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343044827 rs1384849749 |
380 | K>E | No |
ClinGen gnomAD |
|
|
CA31308026 rs771962857 |
384 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771962857 CA1185810 |
384 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1185809 rs377667654 |
384 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775044326 CA1185811 |
385 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343044942 rs775044326 |
385 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 387 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1185813 rs760144235 |
389 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA31308055 rs972713447 |
389 | S>N | No |
ClinGen Ensembl |
|
|
CA1185814 rs768261463 |
390 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA343045185 rs1450909549 |
392 | K>N | No |
ClinGen gnomAD |
|
|
CA343045802 rs1483441555 |
393 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs200798015 CA1185830 |
396 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1185831 rs746483414 |
397 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1185832 rs768171362 |
397 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343045846 rs1476620507 |
399 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1185834 rs761448098 |
402 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1185835 rs147701010 |
403 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147701010 CA31309102 |
403 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1571663152 CA343045884 |
403 | P>S | No |
ClinGen Ensembl |
|
|
CA31309105 rs199984814 |
404 | M>V | No |
ClinGen Ensembl |
|
|
CA1185836 rs193037875 |
405 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1185838 rs768027494 |
406 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768027494 CA31309123 COSM1639568 |
406 | V>I | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
No associated diseases with P41218
6 regional properties for P41218
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Helicase, C-terminal | 493 - 681 | IPR001650 |
| domain | B30.2/SPRY domain | 70 - 247 | IPR001870 |
| domain | SPRY domain | 130 - 246 | IPR003877 |
| domain | DEAD/DEAH box helicase domain | 26 - 418 | IPR011545 |
| domain | Helicase superfamily 1/2, ATP-binding domain | 21 - 444 | IPR014001 |
| domain | RNA helicase, DEAD-box type, Q motif | 2 - 30 | IPR014014 |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| azurophil granule lumen | The volume enclosed by the membrane of an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| ficolin-1-rich granule lumen | Any membrane-enclosed lumen that is part of a ficolin-1-rich granule. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| double-stranded DNA binding | Binding to double-stranded DNA. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of innate immune response | Any process that initiates an innate immune response. Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. Examples of this process include activation of the hypersensitive response of Arabidopsis thaliana and activation of any NOD or TLR signaling pathway in vertebrate species. |
| B cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a B cell. |
| cellular defense response | A defense response that is mediated by cells. |
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| cellular response to interferon-beta | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-beta stimulus. Interferon-beta is a type I interferon. |
| negative regulation of B cell proliferation | Any process that stops, prevents or reduces the rate or extent of B cell proliferation. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of interleukin-1 beta production | Any process that activates or increases the frequency, rate, or extent of interleukin-1 beta production. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVNEYKKILL | LKGFELMDDY | HFTSIKSLLA | YDLGLTTKMQ | EEYNRIKITD | LMEKKFQGVA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CLDKLIELAK | DMPSLKNLVN | NLRKEKSKVA | KKIKTQEKAP | VKKINQEEVG | LAAPAPTARN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KLTSEARGRI | PVAQKRKTPN | KEKTEAKRNK | VSQEQSKPPG | PSGASTSAAV | DHPPLPQTSS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| STPSNTSFTP | NQETQAQRQV | DARRNVPQND | PVTVVVLKAT | APFKYESPEN | GKSTMFHATV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ASKTQYFHVK | VFDINLKEKF | VRKKVITISD | YSECKGVMEI | KEASSVSDFN | QNFEVPNRII |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EIANKTPKIS | QLYKQASGTM | VYGLFMLQKK | SVHKKNTIYE | IQDNTGSMDV | VGSGKWHNIK |
| 370 | 380 | 390 | 400 | ||
| CEKGDKLRLF | CLQLRTVDRK | LKLVCGSHSF | IKVIKAKKNK | EGPMNVN |