O94804
PR
Gene name |
STK10 (LOK) |
Protein name |
Serine/threonine-protein kinase 10 |
Names |
Lymphocyte-oriented kinase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6793 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
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
174-197 (Activation loop from InterPro)
Target domain |
23-314 (Catalytic domain of the Serine/Threonine Kinase, STK10, also called Lymphocyte-Oriented Kinase or LOK) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
15 structures for O94804
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2J7T | X-ray | 200 A | A | 18-317 | PDB |
| 4AOT | X-ray | 233 A | A/B | 18-317 | PDB |
| 4BC6 | X-ray | 220 A | A | 24-316 | PDB |
| 4EQU | X-ray | 200 A | A/B | 18-317 | PDB |
| 4USD | X-ray | 305 A | A/B | 18-317 | PDB |
| 4USE | X-ray | 265 A | A/B | 18-317 | PDB |
| 5AJQ | X-ray | 220 A | A/B | 21-313 | PDB |
| 5OWQ | X-ray | 270 A | A/B | 18-317 | PDB |
| 5OWR | X-ray | 230 A | A | 18-317 | PDB |
| 6EIM | X-ray | 143 A | A/B | 18-317 | PDB |
| 6GTT | X-ray | 225 A | A | 18-317 | PDB |
| 6HXF | X-ray | 209 A | A/B/C/D | 18-317 | PDB |
| 6I2Y | X-ray | 256 A | A/B | 18-317 | PDB |
| 7QGP | X-ray | 190 A | A | 18-317 | PDB |
| AF-O94804-F1 | Predicted | AlphaFoldDB |
825 variants for O94804
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM13171 CA3560314 rs757545210 VAR_023827 |
277 | K>E | testis TGCT; somatic mutation [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
rs754913245 CA132149715 |
3 | F>I | No |
ClinGen gnomAD |
|
|
rs754913245 CA362140363 |
3 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 4 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750069852 CA3560627 |
4 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206463462 CA362140337 |
5 | N>D | No |
ClinGen gnomAD |
|
|
CA3560626 rs764741143 |
5 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1256565912 CA362140297 |
7 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA132149683 rs751520134 |
7 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA362140301 rs1256565912 |
7 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1200870168 CA362140284 |
8 | R>G | No |
ClinGen gnomAD |
|
|
CA3560625 rs762244083 |
8 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 10 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3560624 rs115420947 |
11 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362140241 rs1271927406 |
12 | L>R | No |
ClinGen TOPMed |
|
|
CA3560622 rs761069482 |
14 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA362140222 rs1490679746 |
15 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 16 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446324954 CA362140205 |
18 | R>G | No |
ClinGen gnomAD |
|
|
rs889827075 CA132149659 |
19 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA362140189 rs1266177076 |
20 | S>A | No |
ClinGen TOPMed |
|
|
CA362140177 rs1294531613 |
22 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3560620 rs772276576 |
23 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA3560619 rs746153475 |
25 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560617 rs147874779 |
26 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147874779 CA3560616 |
26 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1403526004 CA362140143 |
27 | R>C | No |
ClinGen gnomAD |
|
|
CA362140142 rs1415349353 |
27 | R>H | No |
ClinGen gnomAD |
|
|
rs780796886 CA3560615 |
28 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs566181069 CA3560614 |
29 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362140132 rs1581196683 |
29 | D>Y | No |
ClinGen Ensembl |
|
|
CA132149616 rs1020412150 |
30 | L>R | No |
ClinGen TOPMed |
|
|
CA3560613 rs546732736 |
31 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1235927760 CA362140119 |
31 | D>G | No |
ClinGen gnomAD |
|
|
rs1561839536 CA362140113 |
32 | P>R | No |
ClinGen Ensembl |
|
| TCGA novel | 32 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779604903 CA3560612 |
33 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA362140107 rs1220019694 |
33 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs749870859 CA3560610 COSM3723730 |
33 | N>S | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs749870859 CA3560611 |
33 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764973674 CA362140104 |
34 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292629275 CA362140099 |
34 | E>D | No |
ClinGen gnomAD |
|
|
CA3560609 rs764973674 |
34 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144580417 CA3560608 |
35 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754282524 CA3560607 |
38 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs764338879 CA3560606 |
40 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560605 rs761333981 |
41 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA362140044 rs1292672736 |
43 | G>D | No |
ClinGen gnomAD |
|
|
CA362140033 rs1295224254 |
45 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 48 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1037578380 CA132149549 |
49 | K>R | No |
ClinGen gnomAD |
|
|
CA362139985 rs1377939973 |
52 | K>E | No |
ClinGen gnomAD |
|
|
rs369187536 CA3560601 |
52 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3560577 rs746839889 |
54 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775217592 CA3560576 |
54 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561829758 CA362133254 |
55 | N>D | No |
ClinGen Ensembl |
|
|
CA3560575 rs772047909 |
57 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs371185883 CA3560574 |
58 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3560572 rs756710970 |
59 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362133227 rs756710970 |
59 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560568 rs1244703571 |
63 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs868070855 CA132131516 |
64 | A>T | No |
ClinGen gnomAD |
|
|
CA362133196 rs1308459430 |
64 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 66 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3560566 rs777293171 |
67 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA362133179 rs1423365159 |
67 | I>V | No |
ClinGen gnomAD |
|
|
CA132131496 rs147686857 |
70 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA362133148 rs1561829708 |
71 | S>N | No |
ClinGen Ensembl |
|
|
CA3560565 rs755785096 |
72 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA362133087 rs767967777 |
79 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753130733 CA3560564 |
79 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761205782 CA132131493 |
80 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs761205782 CA362133085 |
80 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1320884871 CA362133080 |
81 | E>Q | No |
ClinGen TOPMed |
|
|
rs575307141 CA3560562 |
82 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 83 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752005132 CA3560561 |
84 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA132131462 rs948869955 |
86 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 89 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766536823 CA3560560 |
89 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA362132946 rs1276367583 |
91 | P>L | No |
ClinGen TOPMed |
|
|
rs1399526803 CA362132954 |
91 | P>T | No |
ClinGen TOPMed |
|
|
rs142625010 CA3560559 |
93 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773303660 CA3560558 |
94 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169068980 CA362132826 |
99 | A>T | No |
ClinGen gnomAD |
|
|
rs555133914 CA362132801 |
100 | Y>C | No |
ClinGen 1000Genomes gnomAD |
|
|
rs555133914 CA132131423 |
100 | Y>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs762000744 CA3560556 |
101 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581183061 CA362132790 |
101 | Y>H | No |
ClinGen Ensembl |
|
|
CA3560555 rs377315172 |
102 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM208050 CA3560553 rs374056362 |
103 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs956529332 CA132131402 |
104 | G>E | No |
ClinGen Ensembl |
|
|
rs1456326957 CA362132728 CA362132730 |
104 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1252387408 CA362132677 |
107 | W>* | No |
ClinGen gnomAD |
|
|
rs1426940058 CA362141176 |
108 | I>V | No |
ClinGen gnomAD |
|
|
CA3560518 rs200140264 |
110 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1418192967 CA362141078 |
113 | C>Y | No |
ClinGen TOPMed |
|
|
rs1448196770 CA362141040 |
116 | G>R | No |
ClinGen gnomAD |
|
|
COSM1227857 rs149323437 CA3560513 |
118 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs561950892 CA3560511 |
120 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362140933 rs1406015515 |
122 | M>R | No |
ClinGen gnomAD |
|
|
CA362140943 rs1309802569 |
122 | M>V | No |
ClinGen TOPMed |
|
|
rs776240157 CA3560510 |
123 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362140629 rs1427176799 |
126 | D>Y | No |
ClinGen gnomAD |
|
|
CA3560479 rs749761353 |
127 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs72841792 CA132146281 |
130 | T>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs72841792 CA362140601 |
130 | T>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA362140600 rs1411662392 |
131 | E>K | No |
ClinGen TOPMed |
|
|
CA3560476 rs748117917 |
132 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs970530697 CA132146249 |
133 | Q>* | No |
ClinGen TOPMed |
|
|
CA362140582 rs1024764707 CA132146232 |
133 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA362140580 rs1289266841 |
134 | I>V | No |
ClinGen gnomAD |
|
|
rs1223915688 CA362140565 |
136 | V>L | No |
ClinGen TOPMed |
|
|
CA3560474 rs755210612 |
139 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560473 rs374495662 |
139 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3560472 rs374495662 |
139 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757332818 CA3560471 |
144 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753803065 CA3560470 |
145 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3560469 rs760239367 |
147 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560468 rs760239367 |
147 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 149 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362140469 rs1163897237 |
150 | S>R | No |
ClinGen gnomAD |
|
|
rs370942717 CA3560466 |
152 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1179266448 CA362140433 |
155 | H>Q | No |
ClinGen gnomAD |
|
|
rs199657750 COSM171201 CA3560464 |
156 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA362140431 COSM3776525 rs1246675740 |
156 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs763505756 CA3560462 |
161 | G>S | No |
ClinGen ExAC |
|
|
CA3560460 rs770131067 |
163 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs142301756 CA3560459 |
165 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA132146134 rs931996811 |
165 | M>L | No |
ClinGen Ensembl |
|
|
CA362140342 rs781082958 |
166 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781082958 CA3560458 |
166 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132146120 rs1007984521 |
167 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 168 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3560456 rs747231054 |
168 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560454 rs757132886 |
171 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3560431 rs777412389 |
174 | A>D | No |
ClinGen ExAC |
|
|
rs752569044 CA3560429 |
182 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3560427 rs754494686 |
183 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs137947627 CA3560424 |
187 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs961449852 CA132136902 |
189 | R>* | No |
ClinGen gnomAD |
|
|
rs961449852 CA362139101 |
189 | R>G | No |
ClinGen gnomAD |
|
|
rs1262315527 CA362139100 |
189 | R>Q | No |
ClinGen gnomAD |
|
|
rs372811283 CA3560420 |
194 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 194 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362139058 rs1305270435 |
195 | T>M | No |
ClinGen gnomAD |
|
|
rs201303206 CA3560418 |
196 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362139055 rs1243424052 |
196 | P>S | No |
ClinGen gnomAD |
|
| rs760871549 | 197 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3560396 rs761245890 |
198 | W>C | No |
ClinGen ExAC |
|
|
rs1381524857 CA362139044 CA362139043 |
198 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1028101992 CA132136126 |
199 | M>V | No |
ClinGen Ensembl |
|
|
CA132136092 rs1008419110 |
202 | E>* | No |
ClinGen TOPMed |
|
| TCGA novel | 202 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362139004 rs1008419110 |
202 | E>K | No |
ClinGen TOPMed |
|
|
CA362138995 rs1462750646 |
203 | V>L | No |
ClinGen TOPMed |
|
|
CA3560392 rs372525754 |
205 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362138985 rs372525754 |
205 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362138952 rs1399204372 |
209 | M>T | No |
ClinGen gnomAD |
|
|
CA3560391 rs759856809 |
209 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs2306961 CA132136043 CA132136040 |
210 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 210 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771114884 CA3560389 |
212 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA132136018 rs1004136271 |
215 | D>N | No |
ClinGen gnomAD |
|
|
CA362138895 rs1410425962 |
217 | K>R | No |
ClinGen gnomAD |
|
|
rs747925174 CA3560388 |
218 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 219 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3560386 rs768629765 |
220 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs746917454 CA3560385 |
220 | I>M | No |
ClinGen ExAC |
|
|
rs1435844540 CA362138876 |
220 | I>T | No |
ClinGen gnomAD |
|
|
rs779598810 CA3560384 |
221 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs143842877 CA132135977 |
222 | S>C | No |
ClinGen ESP ExAC TOPMed |
|
|
rs143842877 CA3560383 |
222 | S>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA362138848 rs1581159437 |
225 | I>S | No |
ClinGen Ensembl |
|
|
rs201487887 CA3560382 |
225 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778462979 CA3560381 |
226 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs756887810 CA3560380 |
229 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 229 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362138814 rs1237404193 |
230 | M>I | No |
ClinGen gnomAD |
|
|
rs1279364519 CA362138817 |
230 | M>T | No |
ClinGen gnomAD |
|
|
rs141871386 CA3560378 |
233 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3560376 rs753239094 |
234 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA362138766 rs180852802 CA3560374 |
237 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1319961254 CA362138770 |
237 | H>Y | No |
ClinGen TOPMed |
|
|
rs766530240 CA3560372 |
239 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA362138744 rs1192664647 |
241 | N>H | No |
ClinGen TOPMed |
|
|
rs911743548 CA132135923 |
243 | M>V | No |
ClinGen TOPMed |
|
|
CA3560371 rs201471238 |
244 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs938760232 CA132135920 |
244 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 246 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775294882 CA3560367 |
247 | L>R | No |
ClinGen ExAC gnomAD |
|
|
COSM258103 CA362138697 rs1403034101 |
248 | K>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1283173270 CA362138692 |
249 | I>T | No |
ClinGen gnomAD |
|
|
rs1490365234 CA362138696 |
249 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1353302192 CA362138687 |
250 | A>S | No |
ClinGen gnomAD |
|
|
CA3560359 rs150004028 |
253 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA132135836 rs967662374 |
253 | D>V | No |
ClinGen Ensembl |
|
|
rs1285724088 CA362138652 |
255 | P>L | No |
ClinGen gnomAD |
|
|
CA3560358 rs756557172 |
256 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs781578672 CA3560356 |
258 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3560354 rs751638585 |
259 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159577833 CA362138628 |
260 | P>H | No |
ClinGen gnomAD |
|
|
CA362138620 rs1561810155 |
261 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 264 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362138506 COSM1065844 rs1338405948 |
265 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA362138495 rs1448694154 |
266 | E>Q | No |
ClinGen gnomAD |
|
|
CA362138482 rs1353908095 |
267 | F>V | No |
ClinGen gnomAD |
|
|
rs35826078 VAR_041131 CA3560321 |
268 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs142144816 CA3560320 |
268 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747271395 CA3560319 |
269 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780570927 CA3560318 |
271 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 272 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs1581158656 CA362138420 |
272 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1235090683 CA362138425 |
272 | K>R | No |
ClinGen gnomAD |
|
|
CA3560317 rs371584258 |
273 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362138417 rs1442324445 |
273 | I>V | No |
ClinGen gnomAD |
|
|
rs1318517165 CA362138397 |
275 | L>V | No |
ClinGen TOPMed |
|
|
CA3560315 rs772333955 |
276 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560313 rs754082074 |
277 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA362138361 rs1291040862 |
278 | N>S | No |
ClinGen gnomAD |
|
|
rs751268359 CA3560310 |
282 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1313678031 CA362138313 |
282 | R>L | No |
ClinGen gnomAD |
|
|
rs1313678031 CA362138317 |
282 | R>Q | No |
ClinGen gnomAD |
|
|
rs202191993 CA3560309 |
284 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362138280 rs1245806590 |
285 | A>V | No |
ClinGen TOPMed |
|
|
rs139973473 CA3560307 |
286 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764834646 CA3560306 |
286 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560304 rs776358928 |
287 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362138222 rs1367106912 |
290 | E>G | No |
ClinGen gnomAD |
|
|
rs774847768 CA3560279 |
291 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3560278 rs545019190 |
292 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377461679 CA3560276 |
294 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1405806562 CA362137414 |
295 | S>G | No |
ClinGen gnomAD |
|
|
rs146021633 CA3560275 |
296 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1344330719 CA362137407 |
296 | S>R | No |
ClinGen TOPMed |
|
|
CA362137400 rs1341402590 |
297 | I>V | No |
ClinGen TOPMed |
|
|
rs1378302062 CA362137382 |
299 | S>I | No |
ClinGen gnomAD |
|
|
CA132128651 rs767736968 |
300 | N>D | No |
ClinGen Ensembl |
|
|
rs758281813 CA3560272 |
302 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA3560270 rs778931665 |
304 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132128640 rs866300383 |
304 | R>W | No |
ClinGen gnomAD |
|
|
rs371355194 CA3560269 |
306 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1256489059 CA362137335 |
307 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 308 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 308 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362137311 rs1581153870 |
311 | K>E | No |
ClinGen Ensembl |
|
|
rs889609207 CA132128627 |
313 | E>* | No |
ClinGen Ensembl |
|
|
rs1581153855 CA362137287 |
314 | V>G | No |
ClinGen Ensembl |
|
|
rs1390069270 CA362137283 |
315 | M>T | No |
ClinGen TOPMed |
|
|
rs1228601344 CA362137224 |
319 | E>* | No |
ClinGen gnomAD |
|
|
CA3560263 rs573760781 |
321 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs56214442 CA3560261 |
322 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3560259 rs56181665 |
322 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3560260 VAR_041132 rs56214442 |
322 | R>W | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3560258 rs762102838 |
323 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560257 rs540814869 |
325 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1444172673 CA362137144 |
325 | G>R | No |
ClinGen gnomAD |
|
|
rs776997696 CA3560256 |
326 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs935708460 CA132128574 |
326 | E>Q | No |
ClinGen TOPMed |
|
|
CA362137104 rs1256852576 |
328 | E>Q | No |
ClinGen gnomAD |
|
|
CA3560253 rs202058007 |
330 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202058007 CA362137070 |
330 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs745705536 CA3560252 |
330 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs751783821 CA3560250 |
331 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270555244 CA362137029 |
333 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1270555244 CA362137032 |
333 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3560248 rs183967336 |
334 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362137010 rs1341431985 |
334 | A>V | No |
ClinGen gnomAD |
|
|
rs1448200781 CA362137001 |
335 | S>P | No |
ClinGen TOPMed |
|
|
rs55972616 VAR_041133 CA3560215 |
336 | T>I | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs55972616 CA132127013 |
336 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560213 rs765894340 |
338 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs962201585 CA132126990 |
340 | H>Y | No |
ClinGen Ensembl |
|
|
CA3560211 rs762378226 |
342 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA3560210 rs754036380 |
343 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs914703185 CA132126961 |
344 | S>F | No |
ClinGen TOPMed |
|
|
rs760747347 CA3560206 |
348 | S>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1739133 CA3560205 rs775576814 |
349 | P>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1321528182 CA362136230 |
350 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs772294154 CA3560204 |
352 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362136162 rs1363024896 |
353 | N>S | No |
ClinGen TOPMed |
|
|
rs1265097693 CA362136149 |
354 | A>T | No |
ClinGen gnomAD |
|
|
CA362136125 rs1316463087 |
355 | D>E | No |
ClinGen gnomAD |
|
|
rs1326114257 CA362136131 |
355 | D>G | No |
ClinGen gnomAD |
|
|
CA3560201 rs773041074 |
357 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3560198 rs552941936 |
359 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780740731 CA3560196 |
362 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1173775358 CA362136076 |
363 | S>F | No |
ClinGen gnomAD |
|
|
CA3560194 rs368819584 |
364 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3560195 rs768171276 |
364 | T>P | No |
ClinGen ExAC gnomAD |
|
|
COSM3410145 CA3560193 rs779604842 |
365 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3560192 rs758020933 |
367 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA362136050 rs1281310499 |
368 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 368 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779415387 CA3560190 |
368 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3560189 rs757895464 |
369 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754408266 CA3560188 |
371 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560187 rs764626333 |
372 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3560186 rs777293401 |
376 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA362135937 rs1451859080 |
379 | C>R | No |
ClinGen gnomAD |
|
|
rs759777316 CA3560183 |
380 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA3560182 rs773061604 |
381 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3560180 rs761540689 |
383 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA362135888 rs1166346932 |
383 | S>P | No |
ClinGen gnomAD |
|
|
rs1183409348 CA362135854 |
386 | R>G | No |
ClinGen gnomAD |
|
|
CA3560179 rs776554707 |
389 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1211433876 CA362135798 |
391 | T>I | No |
ClinGen gnomAD |
|
|
rs895583796 CA132126810 |
392 | S>T | No |
ClinGen Ensembl |
|
|
CA3560178 rs146851627 |
393 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000950697 CA3560176 rs114771940 |
394 | P>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs745519033 CA3560174 |
394 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs745519033 CA3560175 |
394 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1376699739 CA362135769 |
395 | V>D | No |
ClinGen gnomAD |
|
|
CA3560171 rs556560578 |
395 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs556560578 CA3560172 |
395 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA132126777 rs902986585 |
396 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs752763522 CA3560169 |
397 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752763522 CA3560168 |
397 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560164 rs751796936 |
402 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362135670 rs766523400 |
403 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560162 rs766523400 |
403 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1162522779 CA362135652 |
404 | L>Q | No |
ClinGen gnomAD |
|
|
CA362135634 rs1404018655 |
406 | V>E | No |
ClinGen gnomAD |
|
|
rs11553353 CA132126729 |
408 | V>L | No |
ClinGen Ensembl |
|
|
CA362135605 rs1470027467 |
409 | P>L | No |
ClinGen gnomAD |
|
|
CA362135607 rs1182962728 |
409 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs776362156 CA3560160 |
411 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249751395 CA362135589 |
411 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA362135578 rs1309023274 |
412 | K>E | No |
ClinGen TOPMed |
|
|
CA362135573 rs1581152456 |
412 | K>R | No |
ClinGen Ensembl |
|
|
rs763988770 CA3560158 |
413 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3560156 rs774920420 |
414 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs933326922 CA132126701 |
414 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA362135545 rs1283703306 |
415 | P>A | No |
ClinGen TOPMed |
|
|
rs1486532534 CA362135537 |
415 | P>L | No |
ClinGen TOPMed |
|
|
CA362135533 rs375820809 |
416 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM301070 rs375820809 CA3560154 |
416 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3560153 rs774174400 |
417 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs115558917 CA3560152 |
418 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362135513 rs1411188349 |
418 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362135494 rs1302150912 |
419 | D>V | No |
ClinGen gnomAD |
|
|
rs972133474 CA132126681 |
419 | D>Y | No |
ClinGen Ensembl |
|
|
CA3560150 rs778247621 |
420 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs749714804 CA3560151 |
420 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756649588 CA3560149 |
421 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA362135474 rs1400455371 |
421 | R>I | No |
ClinGen gnomAD |
|
|
CA362135463 rs1410457400 |
422 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA362135437 rs1157385794 |
424 | V>A | No |
ClinGen TOPMed |
|
|
CA362135423 rs748679043 |
425 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560148 rs748679043 |
425 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268201522 CA362135416 |
426 | Q>* | No |
ClinGen gnomAD |
|
|
rs1268201522 CA362135414 |
426 | Q>E | No |
ClinGen gnomAD |
|
|
rs1489567602 CA362135394 |
427 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3560144 rs751600895 |
430 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs758597618 CA3560142 |
433 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA3560143 rs758597618 |
433 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs753698666 CA3560141 |
434 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs753698666 CA362135230 |
434 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 435 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362135213 rs1298881381 |
436 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1016411761 CA132126634 |
439 | P>A | No |
ClinGen Ensembl |
|
|
rs199527490 CA3560140 |
439 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362135165 rs1016411761 |
439 | P>S | No |
ClinGen Ensembl |
|
|
CA362135135 rs990302264 |
440 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1430533250 CA362135156 |
440 | A>T | No |
ClinGen gnomAD |
|
|
rs990302264 CA132126632 |
440 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1349727276 CA362135098 |
442 | N>K | No |
ClinGen TOPMed |
|
|
CA362135103 COSM84948 rs1458187099 |
442 | N>S | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA3560137 rs775500880 |
443 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560136 rs200625057 |
446 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA132126625 rs934837703 |
447 | A>S | No |
ClinGen TOPMed |
|
|
rs748948179 CA3560132 |
451 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3560133 rs770743554 |
451 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 454 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770211295 CA3560131 |
455 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs563239491 CA3560129 |
456 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 456 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465260108 CA362134810 |
457 | L>Q | No |
ClinGen gnomAD |
|
|
CA362134800 rs1207468093 |
458 | E>V | No |
ClinGen gnomAD |
|
|
CA3560128 rs781738931 |
459 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs755430405 CA3560127 |
461 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1456938033 CA362134768 |
461 | G>D | No |
ClinGen TOPMed |
|
|
CA362134772 rs755430405 |
461 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA362134761 rs1363495587 |
462 | G>R | No |
ClinGen gnomAD |
|
|
rs56063773 VAR_041134 CA3560125 |
467 | N>S | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1561804508 CA362134712 |
467 | N>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 468 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA132126516 rs969653042 |
468 | G>D | No |
ClinGen Ensembl |
|
|
CA3560124 rs758677072 |
469 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3560123 rs750657343 |
469 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA362134675 rs1359749092 |
470 | L>P | No |
ClinGen gnomAD |
|
|
rs755966454 CA3560121 |
471 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA3560122 rs755966454 |
471 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA362134656 rs1447832258 |
472 | P>L | No |
ClinGen gnomAD |
|
|
CA362134633 rs1172412422 |
474 | A>G | No |
ClinGen TOPMed |
|
|
CA132126494 rs1013032535 |
477 | A>V | No |
ClinGen Ensembl |
|
|
rs1190317310 CA362134589 |
478 | P>L | No |
ClinGen gnomAD |
|
|
VAR_051671 rs34505340 CA132126486 |
480 | P>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs34943493 CA3560116 |
480 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs547638275 CA3560115 |
481 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483956667 CA362134552 |
482 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs765978181 CA3560113 |
485 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772924447 CA3560111 |
487 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs903039110 CA132126449 |
489 | S>G | No |
ClinGen Ensembl |
|
|
CA132126445 rs1042891653 |
489 | S>N | No |
ClinGen Ensembl |
|
|
CA3560110 rs769293007 |
490 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs776837692 CA3560108 |
491 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375474266 CA3560107 |
495 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362134389 rs1246170424 |
496 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3560106 rs747500187 |
496 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362134358 rs1307455756 |
498 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3560103 rs772141946 |
501 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560102 rs745894502 |
502 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132126401 rs889063967 |
503 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1367606566 CA362134300 |
504 | T>A | No |
ClinGen gnomAD |
|
|
CA362134281 rs1425447970 |
505 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3560098 rs780841587 |
507 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs780841587 CA3560099 |
507 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA3560096 rs751560730 |
509 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766354504 CA3560095 |
509 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1253611959 CA362134246 |
509 | N>S | No |
ClinGen gnomAD |
|
|
rs1356110027 CA362134239 |
510 | K>E | No |
ClinGen gnomAD |
|
|
CA3560094 COSM129470 rs762586248 |
511 | E>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 512 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3560093 rs532474125 |
512 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187431987 CA362134192 |
513 | G>C | No |
ClinGen TOPMed |
|
|
CA362134168 rs764991555 |
514 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3560092 rs764991555 |
514 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3560090 rs777120885 |
518 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761048318 CA3560071 |
519 | D>E | No |
ClinGen ExAC gnomAD |
|
|
VAR_051672 RCV000965197 rs17074311 CA3560070 |
520 | P>L | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs759952036 CA3560068 |
522 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA362132995 rs1028192027 CA132123541 |
523 | Y>* | No |
ClinGen gnomAD |
|
|
rs1581150437 CA362132998 |
523 | Y>C | No |
ClinGen Ensembl |
|
|
CA3560067 rs774545522 |
523 | Y>N | No |
ClinGen ExAC gnomAD |
|
| rs761696581 | 526 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 526 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164416290 CA362132940 |
528 | K>R | No |
ClinGen TOPMed |
|
|
CA3560064 rs564369822 |
529 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560062 rs746850981 |
532 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746850981 CA3560061 |
532 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362132882 rs1250744931 |
534 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362132883 rs1250744931 |
534 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1276835691 CA362132871 CA362132872 |
535 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3560060 rs779963992 |
537 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA362132848 rs1371493400 |
537 | G>D | No |
ClinGen gnomAD |
|
|
rs1581150385 CA362132815 |
540 | V>G | No |
ClinGen Ensembl |
|
|
rs1362733664 CA362132796 |
542 | I>V | No |
ClinGen TOPMed |
|
|
rs756747574 CA362132717 |
549 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560055 rs143733022 |
550 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA132123468 rs148957159 |
551 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs763784912 CA3560054 |
555 | D>N | No |
ClinGen ExAC |
|
|
CA3560052 rs548686825 |
556 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1208627642 CA362132626 |
558 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 560 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377403435 CA3560034 |
563 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3560033 COSM3410144 rs550965424 |
563 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA132117988 rs1036156509 |
564 | Q>* | No |
ClinGen TOPMed |
|
|
rs780834044 CA3560031 |
565 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3560030 COSM1696754 rs373978068 |
567 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs370862567 CA3560029 |
572 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs933936114 CA132117969 |
572 | L>H | No |
ClinGen Ensembl |
|
|
rs143399580 CA3560027 |
576 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1370186359 CA362131790 |
578 | R>Q | No |
ClinGen TOPMed |
|
|
CA362131750 rs1428129135 |
581 | T>A | No |
ClinGen TOPMed |
|
|
CA132117938 rs868608504 |
582 | Q>H | No |
ClinGen gnomAD |
|
|
CA362131737 rs1349269503 |
582 | Q>R | No |
ClinGen gnomAD |
|
|
rs1021492041 CA132117916 |
585 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA132117905 rs768871728 |
587 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362131664 rs1274206947 |
587 | H>P | No |
ClinGen TOPMed |
|
|
CA3560022 rs768871728 |
587 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132117886 rs918464052 |
588 | E>* | No |
ClinGen Ensembl |
|
|
CA362131646 rs1581146356 |
588 | E>V | No |
ClinGen Ensembl |
|
|
rs1368649219 CA362131583 |
593 | Q>E | No |
ClinGen TOPMed |
|
|
CA3560019 rs770836497 |
595 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3560018 rs576346631 |
596 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA132117879 rs576346631 |
596 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA362131488 rs1405973265 |
597 | R>G | No |
ClinGen gnomAD |
|
|
CA3560017 rs777627537 |
597 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3560016 rs769296012 |
598 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA132117830 rs761235458 |
600 | Q>L | No |
ClinGen Ensembl |
|
|
CA362131423 rs1297989579 |
601 | E>K | No |
ClinGen TOPMed |
|
|
rs146527200 CA362131365 |
603 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3560015 rs146527200 |
603 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1307024609 CA362130970 |
604 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 605 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768260926 CA3559994 |
606 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs746659661 CA3559993 |
608 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1561799642 CA362130930 |
609 | F>Y | No |
ClinGen Ensembl |
|
|
CA362130926 rs1316978391 |
610 | D>N | No |
ClinGen gnomAD |
|
|
CA3559991 rs113809101 |
611 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362130902 rs1304574110 |
613 | L>S | No |
ClinGen gnomAD |
|
|
CA362130873 rs1343302657 |
617 | E>G | No |
ClinGen TOPMed |
|
|
CA3559988 rs757807481 |
618 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3559987 rs374049452 |
618 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA362130864 rs1174254491 |
619 | Q>E | No |
ClinGen gnomAD |
|
|
rs1416345903 CA362130808 |
622 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA362130773 rs1395890999 |
624 | V>M | No |
ClinGen gnomAD |
|
|
CA362130753 rs1194084416 |
625 | E>D | No |
ClinGen gnomAD |
|
|
rs1246183771 CA362130718 |
627 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3559986 rs150715921 |
627 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362130658 rs1485914308 |
631 | H>R | No |
ClinGen gnomAD |
|
|
rs756086230 CA3559985 |
631 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs767684376 CA362130643 |
632 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767684376 CA362130641 |
632 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3559983 rs767684376 |
632 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765203214 CA3559981 |
633 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1065834 CA3559980 rs765203214 |
633 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs761809175 CA3559979 |
634 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA362130625 rs761809175 |
634 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3559978 rs115974403 |
634 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148644362 CA3559977 |
635 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369577776 CA3559976 |
635 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 636 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA132117174 rs143931389 |
636 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs376559497 CA3559975 |
636 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1376358921 CA362130588 |
637 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA362130595 rs1416678265 |
637 | E>G | No |
ClinGen gnomAD |
|
|
rs910768438 CA132117170 |
637 | E>K | No |
ClinGen Ensembl |
|
|
rs771826535 CA3559974 |
638 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs530619630 CA3559973 |
640 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs561611452 CA3559972 |
640 | R>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362130546 rs1172468356 |
640 | R>S | No |
ClinGen gnomAD |
|
|
rs561611452 CA3559971 |
640 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778072516 CA3559970 |
641 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3559969 rs778072516 |
641 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132117149 rs1007205465 |
641 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1293744729 CA362130519 |
643 | R>C | No |
ClinGen TOPMed |
|
|
rs143251398 CA3559966 |
643 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143251398 CA3559967 |
643 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362130482 rs1479101821 |
646 | Q>L | No |
ClinGen Ensembl |
|
|
rs201827364 CA362130478 |
647 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201827364 CA3559962 |
647 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3559964 rs765004627 |
647 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3559963 rs765004627 |
647 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA132117054 rs776637131 |
648 | R>G | No |
ClinGen ExAC TOPMed |
|
|
CA362130472 rs1228579651 |
648 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3559961 rs776637131 |
648 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs961083086 CA132117052 |
652 | R>G | No |
ClinGen TOPMed |
|
|
CA362130446 rs1425121319 |
652 | R>S | No |
ClinGen TOPMed |
|
|
rs763900862 CA3559960 |
652 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775107025 CA3559958 |
658 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771916616 CA3559957 |
660 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA362130373 rs1459384029 |
662 | K>I | No |
ClinGen TOPMed |
|
|
rs1581137334 CA362139568 |
664 | V>G | No |
ClinGen Ensembl |
|
|
rs1323834850 CA362139578 |
664 | V>M | No |
ClinGen gnomAD |
|
|
CA3559936 rs774174494 |
665 | K>E | No |
ClinGen ExAC |
|
|
CA362139562 rs1462914057 |
665 | K>R | No |
ClinGen gnomAD |
|
|
CA362139542 rs1157842740 |
666 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3559935 rs770439674 |
666 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA3559934 rs371455341 |
667 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365253057 CA362139525 |
668 | V>M | No |
ClinGen gnomAD |
|
|
rs773421102 CA3559933 COSM78589 |
670 | K>N | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA362139467 rs1375683406 |
672 | P>H | No |
ClinGen gnomAD |
|
|
rs770403355 CA3559932 |
672 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774125608 CA3559931 |
673 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372790032 CA132139955 |
673 | R>Q | No |
ClinGen TOPMed |
|
|
rs1581137307 CA362139453 |
674 | Q>K | No |
ClinGen Ensembl |
|
|
CA132139954 rs139220298 |
675 | Q>E | No |
ClinGen ESP |
|
|
rs1261631135 CA362139436 |
675 | Q>R | No |
ClinGen Ensembl |
|
|
rs747053750 CA3559928 |
676 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768728079 CA3559929 |
676 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA362139360 rs1299191300 |
680 | M>I | No |
ClinGen TOPMed |
|
|
CA362139370 rs1422052045 |
680 | M>V | No |
ClinGen TOPMed |
|
|
rs780347703 CA3559927 |
683 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132139918 rs982267986 |
683 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA362139320 rs780347703 |
683 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362139312 rs367724546 |
684 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs544240789 CA3559925 |
684 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3559926 rs367724546 |
684 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362139299 rs1380126222 |
685 | E>K | No |
ClinGen TOPMed |
|
|
CA3559924 rs777416488 |
686 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3559922 rs375833622 |
688 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 688 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3559923 rs375833622 |
688 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA132139905 rs939271365 |
689 | Q>* | No |
ClinGen Ensembl |
|
|
CA3559918 rs766098811 |
690 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751088982 CA3559919 |
690 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195946305 CA362139211 |
694 | L>F | No |
ClinGen gnomAD |
|
|
rs762615762 CA3559916 |
694 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs891583504 CA132137945 |
695 | D>E | No |
ClinGen Ensembl |
|
|
CA362138594 rs1414978152 |
695 | D>N | No |
ClinGen gnomAD |
|
|
rs761156341 CA3559892 |
696 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370433044 CA3559893 |
696 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776007495 CA3559891 |
700 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1254772854 CA362138553 |
701 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs866616594 CA132137938 |
705 | D>G | No |
ClinGen Ensembl |
|
|
CA132137939 rs904560886 |
705 | D>N | No |
ClinGen gnomAD |
|
|
CA3559889 rs745917294 |
707 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3559886 rs34936670 VAR_041135 |
710 | M>T | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs771252561 CA3559887 |
710 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340423926 CA362138414 |
711 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3559885 rs147338553 |
712 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA132137911 rs943461938 |
713 | L>F | No |
ClinGen Ensembl |
|
|
rs1226411296 CA362138364 |
714 | T>I | No |
ClinGen gnomAD |
|
|
CA3559883 rs746936663 |
715 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3559881 rs757877605 |
716 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs201995192 CA3559878 |
719 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1266927 CA3559879 rs764920096 |
719 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3559877 rs754257512 COSM737706 |
720 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3559876 rs764454211 |
721 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA132137872 rs1052243708 |
725 | E>D | No |
ClinGen gnomAD |
|
|
CA3559875 rs760962349 |
726 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3559874 rs144086302 |
726 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362138201 rs975206518 |
727 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs975206518 CA132137856 |
727 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs766058251 CA132137843 |
728 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 730 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185384346 CA362138182 |
730 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 733 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759582253 CA3559872 |
733 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA362138151 rs1391904691 |
734 | E>K | No |
ClinGen gnomAD |
|
|
CA362138142 rs1253462583 |
735 | L>V | No |
ClinGen TOPMed |
|
|
CA3559871 rs375809850 |
737 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA3559869 rs763255823 |
737 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3559870 rs763255823 |
737 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs568139408 CA3559842 |
739 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3559843 rs568139408 |
739 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138305428 CA3559844 |
739 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs548278108 CA362137924 |
742 | A>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs548278108 CA132135689 |
742 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1354261544 CA362137910 |
744 | W>S | No |
ClinGen gnomAD |
|
|
rs777449966 CA3559841 |
745 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359991618 CA362137890 |
746 | M>I | No |
ClinGen gnomAD |
|
|
rs1581133811 CA362137893 |
746 | M>T | No |
ClinGen Ensembl |
|
|
CA362137878 rs973911741 |
748 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA132135680 rs973911741 |
748 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs961278177 CA132135677 |
749 | H>D | No |
ClinGen TOPMed |
|
|
CA362137862 rs1290761615 |
750 | Q>P | No |
ClinGen gnomAD |
|
|
rs1311221703 CA362137852 |
752 | Q>* | No |
ClinGen gnomAD |
|
|
rs1432647985 CA362137841 |
753 | E>V | No |
ClinGen gnomAD |
|
|
CA362137756 rs1417266192 |
760 | Q>* | No |
ClinGen gnomAD |
|
|
rs1187820218 CA362137748 |
760 | Q>H | No |
ClinGen gnomAD |
|
|
rs1485904551 CA362137741 |
761 | Q>* | No |
ClinGen gnomAD |
|
|
rs1256373430 CA362137691 |
764 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3559839 rs376464626 |
765 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362137674 rs1352280537 |
766 | Y>H | No |
ClinGen gnomAD |
|
|
rs1227127730 CA362137635 |
768 | L>I | No |
ClinGen gnomAD |
|
|
CA362137625 rs1298372378 |
769 | Q>K | No |
ClinGen gnomAD |
|
|
rs150403223 CA3559836 |
769 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3559835 rs766953268 |
770 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA362137611 rs1354838858 |
770 | R>W | No |
ClinGen gnomAD |
|
|
rs1416815996 CA362137605 |
771 | H>P | No |
ClinGen gnomAD |
|
|
rs758577525 CA362137602 |
771 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750512064 CA3559833 |
774 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs762092812 CA3559831 COSM1065830 |
775 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs776657221 CA3559830 |
775 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776657221 CA362137581 |
775 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3559832 rs762092812 |
775 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3559829 rs752340643 |
776 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3559828 rs200161425 |
777 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362137565 rs1476006247 |
778 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 778 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1297701701 | 780 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1383498680 CA362136952 |
780 | E>G | No |
ClinGen TOPMed |
|
|
rs992738851 CA132134258 |
781 | R>Q | No |
ClinGen gnomAD |
|
|
rs369588476 CA3559801 |
781 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs956051376 CA132134257 |
783 | Q>* | No |
ClinGen Ensembl |
|
|
rs1451231990 CA362136918 COSM1672128 |
785 | Q>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA362136910 rs1294562808 |
786 | R>C | No |
ClinGen TOPMed |
|
|
rs376737600 CA3559799 |
786 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768222445 CA132134254 |
788 | N>S | No |
ClinGen Ensembl |
|
|
CA3559797 rs772765671 |
789 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1000174272 CA132134225 |
790 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs746379010 CA3559796 |
790 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132134213 rs1047235451 |
791 | M>I | No |
ClinGen TOPMed |
|
|
CA132134196 rs373941220 |
792 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1261526778 CA362136835 |
797 | V>A | No |
ClinGen gnomAD |
|
|
CA362136836 rs1353171277 |
797 | V>L | No |
ClinGen gnomAD |
|
|
CA362136838 rs1353171277 |
797 | V>M | No |
ClinGen gnomAD |
|
|
CA362136831 rs1346810750 |
798 | R>Q | No |
ClinGen gnomAD |
|
|
CA3559795 rs140431437 |
798 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362136821 rs1186636711 |
799 | Q>H | No |
ClinGen TOPMed |
|
|
CA3559794 rs201970504 |
804 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs116266682 CA3559793 |
804 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751412361 CA3559790 |
805 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756323576 CA3559791 |
805 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1434499891 CA362136766 |
808 | K>R | No |
ClinGen gnomAD |
|
|
rs145044620 CA132134161 |
810 | Q>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1393603165 CA362136737 |
812 | S>N | No |
ClinGen gnomAD |
|
|
rs1478665301 CA362136703 |
814 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs766173307 CA3559789 |
816 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs200598766 CA3559788 |
816 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA362136684 rs200598766 |
816 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765036246 COSM1227854 CA3559786 |
817 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3559785 rs748781832 |
817 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3559784 rs748781832 |
817 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760393327 CA3559782 |
818 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3559781 rs775227575 |
818 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362136680 rs760393327 |
818 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746182921 CA3559780 |
820 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746182921 CA3559779 |
820 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269519725 CA362136654 |
821 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs781672603 CA132134107 |
822 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 824 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779518461 CA3559778 |
824 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA362136612 rs779518461 |
824 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1037122204 CA132134100 |
826 | H>Y | No |
ClinGen TOPMed |
|
|
CA362136553 rs1193307374 |
827 | I>M | No |
ClinGen gnomAD |
|
|
rs756127463 CA3559774 |
827 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs777699775 CA3559775 |
827 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115040416 CA3559772 |
829 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs115040416 CA362136529 |
829 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs115040416 CA3559771 COSM95289 |
829 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA362136508 rs1246384343 |
830 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs765263487 CA3559769 |
830 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1424376967 CA362136484 |
831 | G>D | No |
ClinGen gnomAD |
|
|
rs1424376967 CA362136487 |
831 | G>V | No |
ClinGen gnomAD |
|
|
CA3559767 rs753448576 |
833 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA362136326 rs1442715172 |
837 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1193951041 CA362136313 |
838 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 841 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 843 | F>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770263691 CA3559739 |
843 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs770263691 CA362136021 TCGA novel |
843 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs748268519 CA3559738 |
844 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA362135968 rs1466774080 |
846 | Q>* | No |
ClinGen gnomAD |
|
|
rs776691451 CA362135961 |
846 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs776691451 CA3559737 |
846 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 851 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_041136 rs56066852 CA3559736 |
853 | S>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA362135825 rs1223313299 |
854 | E>V | No |
ClinGen TOPMed |
|
|
rs754651618 CA3559733 |
855 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559847475 CA132133258 |
855 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs559847475 CA3559731 |
855 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754651618 CA3559732 |
855 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424922772 CA362135780 |
857 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1424922772 CA362135785 |
857 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1232697092 CA362135751 |
859 | Q>R | No |
ClinGen gnomAD |
|
|
rs145604444 CA132133252 |
861 | K>T | No |
ClinGen ESP TOPMed |
|
|
CA362135698 rs1167714400 COSM1436027 |
863 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA362135663 rs1430089383 |
865 | Q>* | No |
ClinGen gnomAD |
|
|
rs1394769441 CA362135653 |
865 | Q>H | No |
ClinGen TOPMed |
|
|
CA3559727 rs200951808 |
867 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767149330 CA3559728 |
867 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs751200838 CA3559726 CA362135597 |
869 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs375928175 CA132133238 |
869 | M>T | No |
ClinGen ESP TOPMed |
|
|
CA3559725 rs766008671 |
871 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452556746 CA362135571 |
871 | A>V | No |
ClinGen gnomAD |
|
|
CA362135557 rs1191335507 |
872 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 873 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362135536 COSM1436025 rs1483520161 |
874 | E>K | large_intestine Variant assessed as Somatic; impact. urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA362135516 rs1488842111 |
875 | S>C | No |
ClinGen gnomAD |
|
|
CA362135442 rs1209153839 |
879 | E>K | No |
ClinGen gnomAD |
|
|
CA362135425 rs1314527723 |
880 | L>P | No |
ClinGen gnomAD |
|
|
CA362133921 rs1380524414 |
886 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3559697 rs762101329 |
886 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs185159472 CA3559696 |
888 | C>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3559694 rs760707146 |
892 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3559693 rs539093993 |
893 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3559692 rs772236742 |
894 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772236742 CA362133807 |
894 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3559690 rs774648795 |
895 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769740790 CA3559689 |
897 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs966730340 CA3559687 |
897 | Q>L | No |
ClinGen TOPMed |
|
|
CA362133704 rs1313229236 |
901 | A>S | No |
ClinGen gnomAD |
|
|
CA362133698 rs1477328942 |
901 | A>V | No |
ClinGen TOPMed |
|
|
rs768609788 CA3559684 |
903 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA362133662 rs1461538173 |
904 | E>D | No |
ClinGen TOPMed |
|
|
CA362133666 rs1333210333 |
904 | E>G | No |
ClinGen gnomAD |
|
|
CA362133672 rs1419510884 |
904 | E>K | No |
ClinGen TOPMed |
|
|
CA3559683 VAR_041137 rs55791916 |
905 | S>T | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA362133630 rs1393034817 |
907 | N>H | No |
ClinGen gnomAD |
|
|
rs1291257932 CA362133619 |
907 | N>K | No |
ClinGen gnomAD |
|
|
rs779604045 CA3559682 |
909 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs750084370 CA3559680 |
910 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs757849810 CA3559681 |
910 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs778499503 CA3559679 |
912 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3559676 rs139002315 |
914 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754196711 CA3559677 |
914 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA362133509 rs1581130785 |
915 | D>E | No |
ClinGen Ensembl |
|
|
rs1361663914 CA362133517 |
915 | D>G | No |
ClinGen TOPMed |
|
|
rs1361663914 CA362133515 |
915 | D>V | No |
ClinGen TOPMed |
|
|
CA362133491 rs1398436075 |
917 | L>F | No |
ClinGen TOPMed |
|
|
rs753084325 CA3559674 |
918 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761228540 CA3559675 |
918 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA3559673 rs370523916 |
919 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1488964593 CA362133468 |
919 | P>S | No |
ClinGen gnomAD |
|
|
rs759646603 CA3559672 |
920 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199959256 CA3559670 |
920 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199959256 CA3559671 |
920 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 920 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362133450 rs1240735795 |
921 | K>E | No |
ClinGen gnomAD |
|
|
rs367655898 CA3559669 |
922 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1325264172 CA362131447 |
928 | L>M | No |
ClinGen gnomAD |
|
|
CA3559621 rs772965472 |
929 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs562279140 CA3559619 |
931 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA132126829 rs369344814 |
933 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs781680627 CA3559618 |
933 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362131291 rs1561784642 |
935 | Q>* | No |
ClinGen Ensembl |
|
|
rs769087018 CA3559617 |
935 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs184124886 CA3559615 |
938 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362131254 rs1581126520 |
940 | K>Q | No |
ClinGen Ensembl |
|
|
CA362131245 rs1561784625 |
941 | L>V | No |
ClinGen Ensembl |
|
|
rs1128204 VAR_051673 CA3559613 |
942 | S>N | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
|
rs757404665 CA3559611 |
942 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362131233 rs1307749691 |
943 | E>G | No |
ClinGen gnomAD |
|
|
CA3559610 rs76110035 |
943 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3559608 rs759284138 |
944 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767302202 CA3559609 |
944 | E>K | No |
ClinGen ExAC gnomAD |
|
|
COSM737708 rs201304022 CA132126794 |
945 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA362131205 rs56355550 |
947 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3559605 rs56355550 VAR_041138 |
947 | C>Y | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1233724201 CA362131201 |
948 | P>A | No |
ClinGen TOPMed |
|
|
rs1156582570 CA362131187 |
950 | P>A | No |
ClinGen gnomAD |
|
|
CA3559602 rs114869109 |
950 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA132126787 rs1050893334 |
952 | T>P | No |
ClinGen Ensembl |
|
|
rs1370063414 CA362131168 |
953 | P>R | No |
ClinGen gnomAD |
|
|
CA362131170 rs1387514912 |
953 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769177193 CA3559600 |
954 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA362131162 rs1248117775 |
954 | S>N | No |
ClinGen gnomAD |
|
|
rs1238312190 CA362131158 |
955 | K>E | No |
ClinGen TOPMed |
|
|
CA3559599 rs538956060 |
956 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1221794730 CA362131140 |
956 | A>S | No |
ClinGen gnomAD |
|
|
rs1221794730 CA362131141 |
956 | A>T | No |
ClinGen gnomAD |
|
|
CA3559597 rs772430304 |
957 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA362131123 rs1355128107 |
957 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746014853 CA3559596 |
958 | K>R | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs778867836 CA3559595 |
959 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs1430330607 CA362131047 |
963 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 964 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA132126747 rs757292727 |
965 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338685570 CA362131022 |
965 | A>S | No |
ClinGen gnomAD |
|
|
rs757292727 CA3559594 |
965 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467400147 CA362130992 |
967 | A>V | No |
ClinGen TOPMed |
No associated diseases with O94804
9 regional properties for O94804
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ABC transporter-like, ATP-binding domain | 601 - 824 | IPR003439-1 |
| domain | ABC transporter-like, ATP-binding domain | 1219 - 1453 | IPR003439-2 |
| domain | AAA+ ATPase domain | 628 - 801 | IPR003593-1 |
| domain | AAA+ ATPase domain | 1245 - 1430 | IPR003593-2 |
| domain | ABC transporter type 1, transmembrane domain | 287 - 567 | IPR011527-1 |
| domain | ABC transporter type 1, transmembrane domain | 902 - 1182 | IPR011527-2 |
| conserved_site | ABC transporter-like, conserved site | 726 - 740 | IPR017871 |
| domain | ABC transporter C family, six-transmembrane helical domain 2 | 900 - 1194 | IPR044726 |
| domain | ABC transporter C family, six-transmembrane helical domain 1 | 288 - 575 | IPR044746 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| specific granule membrane | The lipid bilayer surrounding a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| identical protein binding | Binding to an identical protein or proteins. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| lymphocyte aggregation | The adhesion of one lymphocyte to one or more other lymphocytes via adhesion molecules. |
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of lymphocyte migration | Any process that modulates the frequency, rate or extent of lymphocyte migration. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| E1BK52 | STK10 | Serine/threonine-protein kinase 10 | Bos taurus (Bovine) | PR |
| Q9H2G2 | SLK | STE20-like serine/threonine-protein kinase | Homo sapiens (Human) | PR |
| O95747 | OXSR1 | Serine/threonine-protein kinase OSR1 | Homo sapiens (Human) | PR |
| Q9UEW8 | STK39 | STE20/SPS1-related proline-alanine-rich protein kinase | Homo sapiens (Human) | PR |
| Q9Y4K4 | MAP4K5 | Mitogen-activated protein kinase kinase kinase kinase 5 | Homo sapiens (Human) | PR |
| Q92918 | MAP4K1 | Mitogen-activated protein kinase kinase kinase kinase 1 | Homo sapiens (Human) | EV |
| Q12851 | MAP4K2 | Mitogen-activated protein kinase kinase kinase kinase 2 | Homo sapiens (Human) | EV |
| Q8IVH8 | MAP4K3 | Mitogen-activated protein kinase kinase kinase kinase 3 | Homo sapiens (Human) | SS |
| Q9P289 | STK26 | Serine/threonine-protein kinase 26 | Homo sapiens (Human) | PR |
| Q9Y6E0 | STK24 | Serine/threonine-protein kinase 24 | Homo sapiens (Human) | PR |
| O00506 | STK25 | Serine/threonine-protein kinase 25 | Homo sapiens (Human) | PR |
| O54988 | Slk | STE20-like serine/threonine-protein kinase | Mus musculus (Mouse) | PR |
| O55098 | Stk10 | Serine/threonine-protein kinase 10 | Mus musculus (Mouse) | PR |
| E9PTG8 | Stk10 | Serine/threonine-protein kinase 10 | Rattus norvegicus (Rat) | PR |
| Q0IHQ8 | stk10 | Serine/threonine-protein kinase 10 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAFANFRRIL | RLSTFEKRKS | REYEHVRRDL | DPNEVWEIVG | ELGDGAFGKV | YKAKNKETGA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LAAAKVIETK | SEEELEDYIV | EIEILATCDH | PYIVKLLGAY | YHDGKLWIMI | EFCPGGAVDA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IMLELDRGLT | EPQIQVVCRQ | MLEALNFLHS | KRIIHRDLKA | GNVLMTLEGD | IRLADFGVSA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KNLKTLQKRD | SFIGTPYWMA | PEVVMCETMK | DTPYDYKADI | WSLGITLIEM | AQIEPPHHEL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NPMRVLLKIA | KSDPPTLLTP | SKWSVEFRDF | LKIALDKNPE | TRPSAAQLLE | HPFVSSITSN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KALRELVAEA | KAEVMEEIED | GRDEGEEEDA | VDAASTLENH | TQNSSEVSPP | SLNADKPLEE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SPSTPLAPSQ | SQDSVNEPCS | QPSGDRSLQT | TSPPVVAPGN | ENGLAVPVPL | RKSRPVSMDA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RIQVAQEKQV | AEQGGDLSPA | ANRSQKASQS | RPNSSALETL | GGEKLANGSL | EPPAQAAPGP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SKRDSDCSSL | CTSESMDYGT | NLSTDLSLNK | EMGSLSIKDP | KLYKKTLKRT | RKFVVDGVEV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SITTSKIISE | DEKKDEEMRF | LRRQELRELR | LLQKEEHRNQ | TQLSNKHELQ | LEQMHKRFEQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EINAKKKFFD | TELENLERQQ | KQQVEKMEQD | HAVRRREEAR | RIRLEQDRDY | TRFQEQLKLM |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KKEVKNEVEK | LPRQQRKESM | KQKMEEHTQK | KQLLDRDFVA | KQKEDLELAM | KRLTTDNRRE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ICDKERECLM | KKQELLRDRE | AALWEMEEHQ | LQERHQLVKQ | QLKDQYFLQR | HELLRKHEKE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| REQMQRYNQR | MIEQLKVRQQ | QEKARLPKIQ | RSEGKTRMAM | YKKSLHINGG | GSAAEQREKI |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KQFSQQEEKR | QKSERLQQQQ | KHENQMRDML | AQCESNMSEL | QQLQNEKCHL | LVEHETQKLK |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ALDESHNQNL | KEWRDKLRPR | KKALEEDLNQ | KKREQEMFFK | LSEEAECPNP | STPSKAAKFF |
| PYSSADAS |