P52333
SS
Gene name |
JAK3 |
Protein name |
Tyrosine-protein kinase JAK3 |
Names |
EC 2.7.10.2 , Janus kinase 3 , JAK-3 , Leukocyte janus kinase , L-JAK |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3718 |
EC number |
2.7.10.-: Protein-tyrosine kinases |
Protein Class |
|
Descriptions
Jak2 is a member of the Janus (Jak) family of non-receptor protein tyrosine kinases (Jak1, Jak2, Jak3, and Tyk2) and is crucial in signaling through multiple cytokine receptors. Jak2 has a kinase domain (JH1) and pseudokinase domain (JH2). JH2 has three regions for autoinhibition of JH1: IR3 (758-807) directly inhibits JH1, and IR2 (725-757) and IR1 (619-670) enhances IR3-mediated inhibition of JH1.
Autoinhibitory domains (AIDs)
Target domain |
822-1102 (Protein kinase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Target domain |
822-1102 (Protein kinase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Target domain |
822-1102 (Protein kinase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
966-992 (Activation loop from InterPro)
Target domain |
822-1111 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Saharinen P et al. (2003) "Autoinhibition of Jak2 tyrosine kinase is dependent on specific regions in its pseudokinase domain", Molecular biology of the cell, 14, 1448-59
- Kershaw NJ et al. (2013) "SOCS3 binds specific receptor-JAK complexes to control cytokine signaling by direct kinase inhibition", Nature structural & molecular biology, 20, 469-76
- Ma W et al. (2009) "Mutation profile of JAK2 transcripts in patients with chronic myeloproliferative neoplasias", The Journal of molecular diagnostics : JMD, 11, 49-53
- Hubbard SR (2017) "Mechanistic Insights into Regulation of JAK2 Tyrosine Kinase", Frontiers in endocrinology, 8, 361
- Wang J et al. (2023) "Triple-action inhibitory mechanism of allosteric TYK2-specific inhibitors", bioRxiv : the preprint server for biology, ,
- Lupardus PJ et al. (2014) "Structure of the pseudokinase-kinase domains from protein kinase TYK2 reveals a mechanism for Janus kinase (JAK) autoinhibition", Proceedings of the National Academy of Sciences of the United States of America, 111, 8025-30
Autoinhibited structure
Activated structure
42 structures for P52333
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1YVJ | X-ray | 255 A | A | 814-1103 | PDB |
| 3LXK | X-ray | 200 A | A | 806-1124 | PDB |
| 3LXL | X-ray | 174 A | A | 806-1124 | PDB |
| 3PJC | X-ray | 220 A | A | 812-1124 | PDB |
| 3ZC6 | X-ray | 242 A | A/B/C/D | 813-1100 | PDB |
| 3ZEP | X-ray | 235 A | PDB | ||
| 4HVD | X-ray | 185 A | A | 811-1124 | PDB |
| 4HVG | X-ray | 275 A | A | 811-1124 | PDB |
| 4HVH | X-ray | 230 A | A | 811-1124 | PDB |
| 4HVI | X-ray | 240 A | A | 811-1124 | PDB |
| 4I6Q | X-ray | 185 A | A | 811-1124 | PDB |
| 4QPS | X-ray | 180 A | A/C | 811-1103 | PDB |
| 4QT1 | X-ray | 240 A | A | 811-1124 | PDB |
| 4RIO | X-ray | 269 A | A | 810-1100 | PDB |
| 4V0G | X-ray | 300 A | A/B | 816-1098 | PDB |
| 4Z16 | X-ray | 290 A | A/B/C/D | 811-1124 | PDB |
| 5LWM | X-ray | 155 A | A | 812-1103 | PDB |
| 5LWN | X-ray | 160 A | A | 812-1103 | PDB |
| 5TOZ | X-ray | 198 A | A | 812-1124 | PDB |
| 5TTS | X-ray | 234 A | A | 812-1124 | PDB |
| 5TTU | X-ray | 172 A | A | 812-1124 | PDB |
| 5TTV | X-ray | 193 A | A | 812-1124 | PDB |
| 5VO6 | X-ray | 265 A | A | 812-1100 | PDB |
| 5W86 | X-ray | 261 A | A/B/C/D | 814-1100 | PDB |
| 5WFJ | X-ray | 248 A | A | 810-1100 | PDB |
| 6AAK | X-ray | 267 A | A/B/C/D | 814-1100 | PDB |
| 6DA4 | X-ray | 290 A | A | 812-1124 | PDB |
| 6DB3 | X-ray | 197 A | A | 812-1124 | PDB |
| 6DB4 | X-ray | 166 A | A | 812-1124 | PDB |
| 6DUD | X-ray | 166 A | A | 812-1124 | PDB |
| 6GL9 | X-ray | 170 A | A/B | 812-1103 | PDB |
| 6GLA | X-ray | 192 A | A/B | 812-1103 | PDB |
| 6GLB | X-ray | 200 A | A/B | 812-1103 | PDB |
| 6HZV | X-ray | 246 A | A/B/C/D | 815-1099 | PDB |
| 6NY4 | X-ray | 233 A | A | 810-1100 | PDB |
| 7APF | X-ray | 195 A | A/B | 812-1103 | PDB |
| 7APG | X-ray | 240 A | A/B/C/D | 812-1103 | PDB |
| 7C3N | X-ray | 198 A | A | 812-1124 | PDB |
| 7Q6H | X-ray | 175 A | AAA | 806-1124 | PDB |
| 7UYV | X-ray | 215 A | A/B/C/D | 810-1100 | PDB |
| 8EXM | X-ray | 235 A | D | 973-988 | PDB |
| AF-P52333-F1 | Predicted | AlphaFoldDB |
2181 variants for P52333
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000706025 rs1568408509 |
2 | A>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001038374 rs566269022 |
5 | S>N | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA160231 RCV000121264 RCV000639632 rs145500023 |
8 | T>M | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1052019264 CA306142625 RCV000639634 |
10 | L>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs56061056 CA9302282 VAR_041722 RCV000306819 |
12 | P>L | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs752820429 RCV001301284 |
21 | T>M | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA306142410 RCV002020094 RCV000553899 rs1039181282 |
27 | H>Q | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001304055 rs200960683 |
37 | P>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001008070 RCV000804343 rs755706305 |
39 | Q>missing | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_041723 CA9302261 COSM1641093 COSM1641092 rs56384680 RCV000530161 |
40 | R>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency stomach [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001041840 rs2094246939 |
42 | S>Y | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001038232 rs778988303 |
46 | G>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000813663 rs1599881400 |
47 | D>E | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2147700846 RCV001369383 |
52 | D>N | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA120309 rs137852627 RCV000009960 |
58 | A>missing | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs2046340891 RCV001976801 |
58 | A>T | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| VAR_019337 | 58 | A>del | T(-)B(+)NK(-) SCID [UniProt] | Yes | UniProt |
|
rs199602590 RCV001224740 COSM240272 |
62 | G>S | Variant assessed as Somatic; MODERATE impact. T-B+ severe combined immunodeficiency due to JAK3 deficiency prostate [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9302225 RCV000239244 rs144405201 RCV000639640 |
63 | I>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001977633 rs2094245829 |
73 | L>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000422014 COSM35860 CA16602574 RCV000436092 rs1057519770 |
87 | I>T | Acute megakaryoblastic leukemia haematopoietic_and_lymphoid_tissue Leukemoid reaction [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000693721 rs1568408091 |
88 | F>missing | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1016346013 RCV003096014 RCV003096015 RCV002266247 |
90 | V>M | T-B+ severe combined immunodeficiency due to JAK3 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA120300 RCV000009954 VAR_006284 rs137852624 |
100 | Y>C | T-B+ severe combined immunodeficiency due to JAK3 deficiency T(-)B(+)NK(-) SCID [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
COSM5735184 RCV001239083 CA9302208 RCV000433633 COSM5735185 rs761583890 |
103 | R>C | Variant assessed as Somatic; MODERATE impact. T-B+ severe combined immunodeficiency due to JAK3 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000171281 RCV001209588 CA236018 rs774202259 |
103 | R>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001215468 rs199790370 |
108 | N>S | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs201233697 CA16608977 RCV001861508 RCV000441083 |
117 | R>C | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001239084 rs2094244927 |
117 | R>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001372464 rs763832096 |
119 | G>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776850935 RCV001053374 |
121 | R>C | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776850935 RCV001940666 |
121 | R>G | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9302185 rs143586866 RCV000639633 |
121 | R>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001342604 rs201419310 |
123 | D>N | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000550265 RCV000121269 CA160246 RCV000442628 rs3212723 VAR_019336 RCV000433061 COSM34216 |
132 | P>T | T-B+ severe combined immunodeficiency due to JAK3 deficiency Acute megakaryoblastic leukemia haematopoietic_and_lymphoid_tissue Lymphoblastic leukemia, acute, with lymphomatous features [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1486760100 CA404773421 RCV003403154 RCV000498524 |
144 | D>V | JAK3-related condition [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000696147 rs774941503 |
149 | R>P | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1342240526 RCV002024423 |
149 | R>S | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000224911 rs55778349 RCV000121271 VAR_010492 CA160252 COSM35867 RCV001084083 |
151 | P>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency haematopoietic_and_lymphoid_tissue T(-)B(+)NK(-) SCID; likely benign [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs149579831 RCV000821356 |
160 | G>C | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001891463 rs756695301 |
161 | E>A | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001036001 rs973863737 |
167 | V>M | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs147181709 RCV000009959 VAR_019338 |
169 | D>E | T-B+ severe combined immunodeficiency due to JAK3 deficiency T(-)B(+)NK(-) SCID [ClinVar, UniProt] | Yes |
ClinVar UniProt ESP dbSNP gnomAD |
|
RCV000820270 rs764890523 |
171 | A>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs767865565 RCV001128554 |
174 | A>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001969559 rs776089693 |
175 | R>Q | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs759903379 RCV001344273 RCV002307731 |
178 | A>T | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001382206 rs1467075214 |
193 | C>Y | Variant assessed as Somatic; MODERATE impact. T-B+ severe combined immunodeficiency due to JAK3 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP gnomAD |
|
rs2094242511 RCV001052021 |
204 | G>N | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001300320 rs1007002260 |
213 | I>L | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA9302108 rs202167678 RCV000316761 |
217 | V>M | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000804636 rs201460834 |
218 | R>L | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001433206 rs199868795 |
222 | R>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002051797 RCV000255037 RCV000030095 CA214096 rs193922364 |
227 | C>missing | T-B+ severe combined immunodeficiency due to JAK3 deficiency Severe combined immunodeficiency disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs941028266 RCV001981275 |
233 | S>W | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001885435 rs761196525 |
247 | P>L | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001863684 rs1286914027 |
250 | A>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001932332 rs766895335 |
269 | G>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs569160156 RCV000817421 |
276 | D>E | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV001854632 rs587778419 CA160255 RCV000121272 |
281 | W>C | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001320313 rs776551276 |
287 | E>K | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001962593 rs2147695669 |
290 | Q>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001126490 rs571404212 |
299 | V>A | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001863279 rs1216814401 |
300 | D>N | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs751055857 RCV001980199 |
302 | S>N | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000171280 RCV001331071 rs786205517 CA236015 |
305 | Q>* | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200731212 RCV001983511 |
305 | Q>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2094239394 RCV001971495 |
309 | V>A | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs781705937 RCV002546718 RCV001335179 |
311 | P>L | T-B+ severe combined immunodeficiency due to JAK3 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000908683 rs200319694 |
313 | G>E | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2094239321 RCV001312457 |
315 | H>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001062681 rs778229078 |
316 | R>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1446786243 RCV001376695 |
324 | D>N | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
COSM94559 RCV001331072 rs1291046706 |
324 | D>V | lung T-B+ severe combined immunodeficiency due to JAK3 deficiency [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV001035996 rs1418117194 |
328 | L>I | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2094238720 RCV001171698 RCV003621584 |
340 | S>* | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1309733826 RCV000797067 |
344 | L>I | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000792084 rs200863318 |
358 | F>C | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001874261 rs945125325 |
360 | C>F | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2094238493 RCV001349452 |
361 | K>N | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001329704 rs200631515 |
370 | E>K | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1360733708 RCV001973076 |
372 | V>M | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs769243134 RCV002041837 |
374 | E>Q | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000121274 rs373046546 CA160261 RCV000799555 |
381 | T>N | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs968177323 RCV001874982 |
385 | A>S | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001946944 rs2094235007 |
394 | S>missing | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs143038064 RCV001126489 |
395 | R>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000121276 RCV001511367 CA160267 rs149047410 |
396 | P>L | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201199447 RCV001955863 |
399 | Y>C | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM327294 RCV000990184 rs1599876167 COSM3099020 |
403 | R>H | Variant assessed as Somatic; MODERATE impact. T-B+ severe combined immunodeficiency due to JAK3 deficiency haematopoietic_and_lymphoid_tissue [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs1267642970 RCV001229847 |
405 | P>L | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2147692670 RCV001929815 |
418 | Q>E | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs535740127 RCV001934832 |
421 | L>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA404770421 rs1274345651 COSM3388727 COSM3388726 RCV000509260 RCV002527379 |
431 | R>W | pancreas T-B+ severe combined immunodeficiency due to JAK3 deficiency Severe combined immunodeficiency disease [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
CA120306 RCV000009958 rs137852626 |
445 | R>* | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001203764 RCV001090553 RCV003230392 rs267605358 |
451 | R>* | Severe combined immunodeficiency disease T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
CA160201 RCV000121254 rs145751599 RCV001725976 RCV001244055 |
451 | R>Q | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199659728 RCV002051452 |
460 | G>E | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2147691124 RCV001927770 |
462 | L>missing | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322202 rs201132330 |
463 | H>Q | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV001942365 rs2147691045 |
468 | A>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs769633203 CA9301908 RCV003621546 RCV000523576 |
478 | R>missing | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
| VAR_010493 | 481 | E>G | T(-)B(+)NK(-) SCID [UniProt] | Yes | UniProt |
|
RCV003331274 RCV002023511 rs2147689016 |
487 | V>M | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2094229597 RCV001042413 |
488 | V>G | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs200112185 RCV000639630 CA9301873 |
491 | G>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2094229513 RCV001326910 |
495 | P>S | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001349586 rs2094229434 |
500 | V>I | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000436281 COSM34172 RCV000419033 RCV001204387 CA16602573 CA9301872 RCV000428873 RCV001174965 rs201283129 |
501 | Q>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency Leukemoid reaction Acute megakaryoblastic leukemia haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2094229344 RCV001221751 |
505 | Q>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001897612 rs762398167 |
510 | Q>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2094229284 RCV001253611 |
516 | I>N | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA9301865 rs759375144 RCV000272194 |
517 | P>L | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA160204 VAR_041724 rs55666418 RCV000121255 RCV001225410 |
521 | L>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs199635089 RCV001984927 |
523 | W>G | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001052563 rs142805245 |
529 | H>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs746305522 RCV001123843 |
537 | R>W | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
COSM6041792 RCV001211427 COSM6041793 rs747854515 |
540 | R>C | Variant assessed as Somatic; MODERATE impact. T-B+ severe combined immunodeficiency due to JAK3 deficiency [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000818327 rs148777897 |
541 | H>L | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1367182709 RCV000802809 |
544 | V>A | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2147687557 RCV001996250 |
545 | D>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1011307501 RCV000990183 |
549 | R>* | Variant assessed as Somatic; HIGH impact. T-B+ severe combined immunodeficiency due to JAK3 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001122757 COSM1630768 rs201972084 COSM1630767 |
549 | R>Q | liver Variant assessed as Somatic; MODERATE impact. T-B+ severe combined immunodeficiency due to JAK3 deficiency [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs777252992 RCV001874684 |
558 | M>T | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200993230 RCV001300177 |
558 | M>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886054279 CA10642433 RCV000360756 |
560 | A>G | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10651625 RCV000268809 rs771634723 |
560 | A>S | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000706676 rs771634723 |
560 | A>T | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000797112 rs1599873591 |
563 | K>missing | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000791305 rs1599873586 |
563 | K>missing | NK-cell enteropathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000009957 CA120303 rs137852625 |
565 | C>* | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs121913504 CA16602504 COSM34214 RCV000422353 RCV000439577 |
572 | A>V | Acute megakaryoblastic leukemia haematopoietic_and_lymphoid_tissue Myeloproliferative neoplasm [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001900217 rs587778414 |
580 | S>W | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000030087 CA214079 VAR_010494 rs193922361 RCV001852597 |
582 | R>W | T-B+ severe combined immunodeficiency due to JAK3 deficiency Severe combined immunodeficiency disease T(-)B(+)NK(-) SCID [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001341188 rs199600889 |
585 | V>M | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
| VAR_010495 | 586 | L>del | T(-)B(+)NK(-) SCID; lack of phosphorylation in response to cytokine stimulation [UniProt] | Yes | UniProt |
|
rs1207883288 RCV001306634 |
588 | H>P | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
CA10588686 RCV000255561 rs886039394 VAR_019339 RCV000585756 RCV003509521 |
589 | G>S | T-B+ severe combined immunodeficiency due to JAK3 deficiency Adenoid cystic carcinoma T(-)B(+)NK(-) SCID [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001240385 rs1040476469 |
590 | V>M | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002521197 RCV001059677 RCV003418035 rs138143146 CA9301749 |
598 | M>I | T-B+ severe combined immunodeficiency due to JAK3 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003396332 RCV000766118 rs1568403355 |
599 | V>G | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001309386 rs147408277 |
602 | F>S | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001917441 rs896905338 |
610 | M>T | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000798169 rs149316157 |
613 | R>* | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200075643 RCV000872868 RCV000121258 CA160213 |
615 | R>C | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2147684176 RCV001878759 |
626 | Q>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001056015 rs757311496 |
638 | L>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001303195 rs1435749725 |
642 | G>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs201479407 CA306130285 RCV000639631 |
645 | H>Y | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM1148111 RCV000419268 COSM35864 CA16602572 rs758959409 RCV000426476 RCV002524691 |
657 | R>Q | lung Variant assessed as Somatic; MODERATE impact. T-B+ severe combined immunodeficiency due to JAK3 deficiency Acute megakaryoblastic leukemia haematopoietic_and_lymphoid_tissue Leukemoid reaction [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1568403015 RCV000688591 |
657 | R>W | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000811970 rs373027121 |
664 | P>L | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs575352564 RCV001307501 |
664 | P>T | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2147682930 RCV001890883 |
667 | I>missing | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs35785705 CA160219 RCV000121260 VAR_041726 RCV000335092 |
688 | I>F | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001068388 COSM1391558 COSM1391559 rs200849846 |
697 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine T-B+ severe combined immunodeficiency due to JAK3 deficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000702376 rs201838318 |
697 | R>W | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199938989 RCV000691443 |
699 | A>S | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000792655 rs772117537 |
702 | L>P | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748216175 RCV000766118 |
709 | W>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1178958564 RCV002020813 RCV003408090 |
712 | G>S | JAK3-related condition Variant assessed as Somatic; MODERATE impact. T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM34195 CA16603124 rs1057520020 RCV000431542 |
715 | V>I | Severe combined immunodeficiency disease breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000121261 RCV000625141 CA160222 rs146837396 |
718 | V>L | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1322146058 RCV001240319 |
722 | V>A | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001357996 RCV000418338 VAR_010496 CA160225 RCV000436031 RCV000558788 rs3213409 RCV000121262 COSM34213 |
722 | V>I | T-B+ severe combined immunodeficiency due to JAK3 deficiency Acute megakaryoblastic leukemia haematopoietic_and_lymphoid_tissue Lymphoblastic leukemia, acute, with lymphomatous features [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM438939 COSM1480770 rs202027945 RCV001035849 |
741 | R>Q | Variant assessed as Somatic; MODERATE impact. T-B+ severe combined immunodeficiency due to JAK3 deficiency breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs2094220656 RCV001998706 |
746 | A>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2094220604 RCV001126404 |
753 | A>D | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2147681603 VAR_010497 |
759 | C>R | T(-)B(+)NK(-) SCID; constitutive phosphorylation [UniProt] | Yes |
Ensembl UniProt |
|
RCV001070458 rs149982493 |
764 | P>L | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1198251679 RCV001963164 COSM182100 |
771 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine T-B+ severe combined immunodeficiency due to JAK3 deficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201531563 RCV001202151 |
773 | V>I | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA160228 RCV000121263 rs200624610 RCV001304755 |
775 | R>C | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001824245 rs1251299279 |
775 | R>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs199861157 RCV001042875 |
778 | N>S | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002150011 rs1413703588 |
791 | P>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001318438 rs935305331 |
794 | G>D | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs765366102 RCV001948597 |
797 | A>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001126402 rs201241352 |
799 | R>C | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000735332 rs374191135 RCV000536312 CA9301599 |
818 | E>K | Non-immune hydrops fetalis T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1459489474 RCV001989523 |
825 | I>M | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001367373 rs144683649 |
827 | Q>E | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001895860 rs2147678543 |
832 | N>S | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000788353 rs201966394 RCV001231459 |
835 | S>C | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003311900 rs200077579 RCV000822695 |
840 | R>C | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001362976 rs140837014 |
840 | R>H | Variant assessed as Somatic; MODERATE impact. T-B+ severe combined immunodeficiency due to JAK3 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001906367 rs140837014 |
840 | R>L | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2147678424 RCV002012500 |
844 | L>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000808075 rs200784656 |
861 | G>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs749480147 RCV000639628 CA9301571 |
865 | Q>E | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM4978685 COSM4978684 RCV000810608 rs376945173 |
870 | R>Q | Variant assessed as Somatic; MODERATE impact. T-B+ severe combined immunodeficiency due to JAK3 deficiency [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001235891 rs2094216320 RCV001773533 |
872 | I>T | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000818161 rs200645418 |
873 | Q>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201869359 RCV001123740 |
877 | A>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs3179893 RCV000639629 RCV000414420 CA9301563 |
879 | H>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1680794 COSM245100 rs759015510 RCV001043850 |
887 | R>C | Variant assessed as Somatic; MODERATE impact. T-B+ severe combined immunodeficiency due to JAK3 deficiency prostate haematopoietic_and_lymphoid_tissue [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs148688786 RCV000791870 |
887 | R>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM2157338 RCV000291308 CA9301556 COSM2157339 rs772027199 |
893 | P>L | central_nervous_system T-B+ severe combined immunodeficiency due to JAK3 deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000586795 rs1555743321 CA658684227 |
895 | R>missing | Severe combined immunodeficiency disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001049911 rs2094215030 |
898 | L>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001214894 rs200855932 |
902 | M>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001870263 rs1259843283 |
907 | S>G | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
| VAR_010498 | 910 | L>S | T(-)B(+)NK(-) SCID [UniProt] | Yes | UniProt |
|
RCV001977389 rs2147676935 |
912 | D>Y | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs753577833 RCV001938281 RCV003355652 |
918 | R>P | T-B+ severe combined immunodeficiency due to JAK3 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002012463 rs2147676832 |
919 | A>P | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000685382 rs767424476 |
919 | A>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000266853 rs886054278 CA10648411 |
921 | L>F | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001999385 rs763951351 |
922 | D>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000822919 rs763951351 |
922 | D>N | Variant assessed as Somatic; MODERATE impact. T-B+ severe combined immunodeficiency due to JAK3 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001122648 rs149452625 |
925 | R>C | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs149452625 RCV000480888 RCV000990182 CA9301512 |
925 | R>S | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3932935 COSM3932936 RCV001924595 rs372733285 |
942 | S>F | urinary_tract T-B+ severe combined immunodeficiency due to JAK3 deficiency [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000990181 rs1380154594 |
978 | K>missing | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001912387 rs2147675743 |
979 | D>E | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000693903 rs1568400897 |
997 | E>* | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs137901277 RCV001511584 |
1003 | I>V | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001941562 rs2147674587 |
1011 | W>* | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001060363 rs145260622 |
1023 | Y>H | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs202044618 RCV001936765 |
1029 | S>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2094211935 RCV001210418 |
1032 | A>T | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000626253 RCV001824145 CA404764280 rs1424732031 |
1035 | L>missing | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001887420 rs2094211254 |
1035 | L>Q | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001911284 rs750073941 |
1049 | R>L | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1223885282 RCV001043017 |
1067 | P>L | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001067558 rs752088869 |
1072 | E>K | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs752088869 RCV001977659 |
1072 | E>Q | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200580168 RCV001068240 |
1073 | L>F | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002019759 COSM3403933 rs2094204878 COSM3403934 |
1085 | R>Q | Variant assessed as Somatic; MODERATE impact. central_nervous_system T-B+ severe combined immunodeficiency due to JAK3 deficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar dbSNP gnomAD |
|
rs1265005806 RCV000587775 RCV001860123 CA404763148 |
1085 | R>W | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs777493612 RCV000626254 CA306119713 |
1086 | P>L | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1589889 RCV000121268 CA160243 COSM992912 RCV000891632 rs144968714 RCV001355102 |
1090 | A>T | endometrium T-B+ severe combined immunodeficiency due to JAK3 deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201301192 RCV001128368 |
1097 | M>L | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001864713 rs757920411 |
1103 | R>Q | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1269489339 RCV002049536 |
1113 | H>Y | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1275983760 RCV000793692 |
1119 | H>R | T-B+ severe combined immunodeficiency due to JAK3 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
COSM3822305 COSM3822306 RCV000800600 rs1599862815 |
1124 | S>L | Variant assessed as Somatic; MODERATE impact. T-B+ severe combined immunodeficiency due to JAK3 deficiency breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2147701252 | 2 | A>T | No | Ensembl | |
| rs766883331 | 3 | P>L | No |
ExAC gnomAD |
|
| rs2147701242 | 3 | P>S | No | Ensembl | |
| rs773632633 | 5 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs2094247449 | 6 | E>Q | No | TOPMed | |
|
COSM4075510 COSM4075509 rs1488831072 |
7 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs145500023 | 8 | T>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1400025357 | 9 | P>L | No | gnomAD | |
| rs774076800 | 9 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs2147701171 | 10 | L>P | No | Ensembl | |
| rs1436664792 | 11 | I>V | No | gnomAD | |
| rs1423714862 | 12 | P>S | No | gnomAD | |
|
rs201771231 COSM126753 COSM1579127 |
13 | Q>* | Variant assessed as Somatic; HIGH impact. upper_aerodigestive_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs201771231 | 13 | Q>K | No | gnomAD | |
| rs200860180 | 13 | Q>R | No | TOPMed | |
| rs896064879 | 14 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
rs780084832 COSM1391584 COSM1391585 |
14 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs1457535594 | 15 | S>L | No | gnomAD | |
|
rs2147701122 COSM1153334 COSM992937 |
16 | C>Y | endometrium [Cosmic] | No |
cosmic curated Ensembl |
| rs1568408440 | 17 | S>G | No | Ensembl | |
| rs2094247284 | 17 | S>I | No | TOPMed | |
| rs2094247284 | 17 | S>T | No | TOPMed | |
| rs781178874 | 19 | L>F | No |
ExAC gnomAD |
|
| rs745658193 | 19 | L>S | No |
ExAC gnomAD |
|
|
COSM228698 rs199773433 |
20 | S>P | skin [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
RCV000121266 CA160237 rs199773433 |
20 | S>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2147701085 | 21 | T>S | No | Ensembl | |
| rs200065012 | 22 | E>K | No |
TOPMed gnomAD |
|
| rs200065012 | 22 | E>Q | No |
TOPMed gnomAD |
|
| rs2147701058 | 23 | A>G | No | Ensembl | |
| rs753974832 | 23 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs2147701058 | 23 | A>V | No | Ensembl | |
| rs766866864 | 24 | G>D | No |
ExAC gnomAD |
|
| rs761209690 | 25 | A>P | No |
ExAC gnomAD |
|
| rs761209690 | 25 | A>T | No |
ExAC gnomAD |
|
|
COSM4385053 COSM4385054 |
25 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1321875586 | 27 | H>R | No |
TOPMed gnomAD |
|
| rs2147701031 | 27 | H>Y | No | Ensembl | |
| TCGA novel | 28 | V>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2147701006 | 31 | P>S | No | Ensembl | |
|
rs587778416 CA160234 RCV000121265 |
32 | A>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs768370832 | 33 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs565783591 | 33 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs200740037 | 35 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs2094247065 | 36 | G>E | No | TOPMed | |
| rs769828760 | 36 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs955716335 | 37 | P>A | No |
TOPMed gnomAD |
|
| rs200960683 | 37 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs200960683 | 37 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs955716335 | 37 | P>S | No |
TOPMed gnomAD |
|
| rs955716335 | 37 | P>T | No |
TOPMed gnomAD |
|
| rs2147700946 | 38 | P>S | No | Ensembl | |
| rs1599881465 | 39 | Q>P | No | Ensembl | |
|
COSM1391582 rs755706305 COSM1391583 |
39 | Q>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs755706305 | 39 | Q>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4075508 COSM4075507 rs140784576 |
40 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP NCI-TCGA gnomAD |
| rs2147700910 | 41 | L>V | No | Ensembl | |
| rs2094246939 | 42 | S>F | No | Ensembl | |
| rs2094246932 | 43 | F>L | No | TOPMed | |
| rs201650430 | 44 | S>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1226305304 | 45 | F>L | No | gnomAD | |
| rs916019 | 45 | F>S | No | Ensembl | |
| rs1284042750 | 46 | G>E | No | gnomAD | |
| rs755294746 | 47 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs2094246893 | 47 | D>N | No | Ensembl | |
|
COSM6150115 rs2094246893 COSM1524397 COSM6150116 COSM1524398 |
47 | D>Y | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
| rs1455932507 | 48 | H>Q | No | TOPMed | |
|
COSM3530610 COSM3530611 |
49 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2094246856 | 50 | A>G | No | TOPMed | |
| rs1363017670 | 50 | A>P | No | gnomAD | |
| rs2094246856 | 50 | A>V | No | TOPMed | |
| rs943912652 | 52 | D>A | No | TOPMed | |
| rs943912652 | 52 | D>G | No | TOPMed | |
| rs943912652 | 52 | D>V | No | TOPMed | |
| rs1296361489 | 53 | L>M | No |
TOPMed gnomAD |
|
| rs2147700827 | 53 | L>P | No | Ensembl | |
| rs200626608 | 54 | C>W | No |
TOPMed gnomAD |
|
| rs2147700792 | 55 | V>G | No | Ensembl | |
| rs749334592 | 55 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2147700780 | 56 | Q>* | No | Ensembl | |
| rs2147700769 | 56 | Q>R | No | Ensembl | |
| rs2147700763 | 57 | A>P | No | Ensembl | |
| rs2147700747 | 58 | A>G | No | Ensembl | |
| rs2147700747 | 58 | A>V | No | Ensembl | |
| rs2147700734 | 59 | K>N | No | Ensembl | |
| rs780157263 | 60 | A>T | No |
ExAC gnomAD |
|
| rs2147700727 | 61 | S>C | No | Ensembl | |
| rs2147700727 | 61 | S>G | No | Ensembl | |
| rs200269517 | 61 | S>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1252777378 | 62 | G>V | No | TOPMed | |
| rs2094245890 | 63 | I>M | No | Ensembl | |
| TCGA novel | 65 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2094245870 | 65 | P>S | No | Ensembl | |
| TCGA novel | 65 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs992942163 | 66 | V>M | No | TOPMed | |
| rs2147700150 | 67 | Y>S | No | Ensembl | |
| rs2147700145 | 68 | H>Y | No | Ensembl | |
| rs747943549 | 69 | S>F | No |
ExAC gnomAD |
|
| rs770063056 | 70 | L>V | No |
ExAC gnomAD |
|
|
RCV000481431 rs1064793156 CA16620809 |
73 | L>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs2147700122 | 74 | A>V | No | Ensembl | |
| rs745933382 | 75 | T>M | No |
ExAC gnomAD |
|
| rs2147700109 | 76 | E>G | No | Ensembl | |
| rs2147700101 | 77 | D>A | No | Ensembl | |
| rs2147700101 | 77 | D>V | No | Ensembl | |
| rs1350333034 | 77 | D>Y | No | TOPMed | |
| rs2147700080 | 80 | C>Y | No | Ensembl | |
| rs1323877308 | 82 | F>I | No |
TOPMed gnomAD |
|
| rs201587905 | 82 | F>S | No |
ExAC gnomAD |
|
| rs201587905 | 82 | F>Y | No |
ExAC gnomAD |
|
|
COSM4481038 COSM4481039 |
83 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2147700059 | 83 | P>T | No | Ensembl | |
| rs1236673227 | 84 | P>A | No | gnomAD | |
| rs201067961 | 84 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs201067961 | 84 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1236673227 | 84 | P>S | No | gnomAD | |
| rs2147700029 | 85 | S>C | No | Ensembl | |
| rs1299325240 | 85 | S>N | No | TOPMed | |
| rs2147700029 | 85 | S>R | No | Ensembl | |
| rs2147699997 | 91 | E>G | No | Ensembl | |
| rs1323968278 | 92 | D>H | No | TOPMed | |
| rs1323968278 | 92 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1219986698 | 93 | A>T | No |
TOPMed gnomAD |
|
| rs2147699988 | 93 | A>V | No | Ensembl | |
| rs2147699985 | 94 | S>N | No | Ensembl | |
| rs2094245638 | 96 | Q>E | No |
TOPMed gnomAD |
|
| rs750308191 | 101 | R>G | No |
ExAC gnomAD |
|
| rs1814648934 | 101 | R>S | No | gnomAD | |
| rs767457799 | 102 | I>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 103 | R>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761583890 | 103 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs761583890 | 103 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs200704692 | 108 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs199790370 | 108 | N>I | No |
TOPMed gnomAD |
|
| TCGA novel | 110 | F>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2094244962 | 112 | L>Q | No | TOPMed | |
| rs1359401060 | 114 | K>N | No |
TOPMed gnomAD |
|
| TCGA novel | 114 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2147699590 | 115 | C>S | No | Ensembl | |
| rs1163813792 | 115 | C>Y | No | gnomAD | |
| rs2147699576 | 116 | H>L | No | Ensembl | |
| rs2147699576 | 116 | H>P | No | Ensembl | |
| rs2094244927 | 117 | R>P | No | Ensembl | |
| rs762655525 | 120 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs143586866 | 121 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs2147699530 | 122 | K>N | No | Ensembl | |
| rs1568407873 | 125 | A>V | No | gnomAD | |
| rs200495068 | 126 | S>N | No | Ensembl | |
| rs2147699499 | 128 | I>M | No | Ensembl | |
| rs950755388 | 129 | L>F | No | Ensembl | |
| rs202164851 | 130 | D>A | No |
ExAC gnomAD |
|
| rs1358761917 | 130 | D>H | No | gnomAD | |
| rs202164851 | 130 | D>V | No |
ExAC gnomAD |
|
| TCGA novel | 130 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1326851056 | 133 | V>D | No | gnomAD | |
| rs976048065 | 135 | E>* | No | Ensembl | |
| rs951199223 | 135 | E>V | No | Ensembl | |
| rs772683558 | 139 | A>D | No |
ExAC gnomAD |
|
| rs772683558 | 139 | A>V | No |
ExAC gnomAD |
|
| rs1398137057 | 140 | Q>* | No | gnomAD | |
| rs761025361 | 141 | H>N | No |
ExAC gnomAD |
|
|
rs773590163 CA9302164 RCV000479086 |
142 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs964736085 | 142 | R>H | No |
TOPMed gnomAD |
|
| rs964736085 | 142 | R>L | No |
TOPMed gnomAD |
|
| rs964736085 | 142 | R>P | No |
TOPMed gnomAD |
|
| rs773590163 | 142 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs567346293 | 143 | S>G | No |
1000Genomes ExAC gnomAD |
|
| rs2147699056 | 144 | D>H | No | Ensembl | |
| rs1279205118 | 146 | V>M | No |
TOPMed gnomAD |
|
| rs2147699025 | 147 | S>G | No | Ensembl | |
| rs942960531 | 147 | S>R | No |
TOPMed gnomAD |
|
| rs2147699014 | 148 | G>A | No | Ensembl | |
| rs761989825 | 148 | G>R | No |
ExAC gnomAD |
|
| rs1342240526 | 149 | R>C | No |
TOPMed gnomAD |
|
| rs1342240526 | 149 | R>G | No |
TOPMed gnomAD |
|
| rs774941503 | 149 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2094244178 | 150 | L>F | No | Ensembl | |
| rs2147698991 | 150 | L>P | No | Ensembl | |
| rs2147698979 | 151 | P>S | No | Ensembl | |
| rs2147698959 | 152 | V>A | No | Ensembl | |
| rs2147698959 | 152 | V>G | No | Ensembl | |
| rs749662399 | 152 | V>L | No |
ExAC gnomAD |
|
| rs749662399 | 152 | V>M | No |
ExAC gnomAD |
|
| rs775760843 | 153 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs775760843 | 153 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs2147698947 | 154 | L>H | No | Ensembl | |
| rs2147698935 | 155 | S>R | No | Ensembl | |
| TCGA novel | 156 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2147698933 | 157 | K>E | No | Ensembl | |
| rs1335438874 | 158 | E>G | No | gnomAD | |
| rs2147698926 | 159 | Q>* | No | Ensembl | |
| rs746576270 | 161 | E>D | No |
ExAC gnomAD |
|
| rs2147698888 | 164 | S>G | No | Ensembl | |
| rs1438826668 | 164 | S>T | No |
TOPMed gnomAD |
|
| rs868848507 | 166 | A>S | No | Ensembl | |
| rs868848507 | 166 | A>T | No | Ensembl | |
| rs2147698871 | 166 | A>V | No | Ensembl | |
| rs2147698845 | 169 | D>Y | No | Ensembl | |
| rs1216747511 | 170 | L>P | No | gnomAD | |
| rs1355281698 | 171 | A>T | No | gnomAD | |
| rs754849982 | 172 | R>G | No |
ExAC gnomAD |
|
|
COSM110718 rs750606059 |
172 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated ExAC gnomAD |
|
COSM1391576 COSM1391577 rs754849982 |
172 | R>W | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs2094243941 | 173 | M>R | No | TOPMed | |
| rs767865565 | 174 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs138201425 | 175 | R>* | No |
ESP ExAC gnomAD |
|
| rs138201425 | 175 | R>G | No |
ESP ExAC gnomAD |
|
| rs776089693 | 175 | R>P | No |
ExAC TOPMed gnomAD |
|
|
CA16620808 rs1064795657 RCV000483936 |
176 | E>missing | No |
ClinGen ClinVar dbSNP |
|
| rs770018197 | 176 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1362591365 | 177 | Q>* | No | gnomAD | |
| rs1157067833 | 177 | Q>H | No |
TOPMed gnomAD |
|
| rs1362591365 | 177 | Q>K | No | gnomAD | |
| rs2147698780 | 177 | Q>R | No | Ensembl | |
| rs759903379 | 178 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs1797727077 | 179 | Q>* | No |
TOPMed gnomAD |
|
| rs2147698754 | 179 | Q>R | No | Ensembl | |
| rs770633633 | 180 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs770633633 | 180 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2147698733 | 181 | P>A | No | Ensembl | |
|
COSM1211226 rs746488415 COSM1211225 |
181 | P>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs746488415 | 181 | P>R | No |
ExAC TOPMed gnomAD |
|
|
COSM1304184 COSM1304185 rs1471740073 |
182 | G>E | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs777195283 | 182 | G>R | No | ExAC | |
| rs1236803438 | 183 | E>* | No | gnomAD | |
| rs1236803438 | 183 | E>K | No | gnomAD | |
| rs1248229882 | 183 | E>V | No | gnomAD | |
| rs1223038228 | 187 | T>S | No | gnomAD | |
| rs1024000474 | 189 | S>N | No | Ensembl | |
| rs2094242636 | 191 | K>R | No | Ensembl | |
| rs1331806335 | 192 | A>S | No | gnomAD | |
| rs1331806335 | 192 | A>T | No | gnomAD | |
| rs2147698046 | 192 | A>V | No | Ensembl | |
| rs2147698036 | 193 | C>S | No | Ensembl | |
| rs2094242600 | 194 | L>P | No | Ensembl | |
| rs1599879496 | 195 | P>L | No | TOPMed | |
| rs2147698014 | 195 | P>S | No | Ensembl | |
| rs565101202 | 196 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2147697992 | 196 | P>L | No | Ensembl | |
| rs565101202 | 196 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs565101202 | 196 | P>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs900991413 | 197 | S>G | No |
TOPMed gnomAD |
|
| rs2094242566 | 197 | S>T | No | TOPMed | |
| rs770545792 | 199 | R>C | No |
ExAC gnomAD |
|
| rs545218078 | 199 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs545218078 | 199 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2147697953 | 201 | L>P | No | Ensembl | |
| rs200170960 | 201 | L>V | No | gnomAD | |
| rs942553683 | 204 | G>D | No |
TOPMed gnomAD |
|
| rs1039537226 | 204 | G>R | No |
TOPMed gnomAD |
|
| rs1039537226 | 204 | G>S | No |
TOPMed gnomAD |
|
| rs2147697927 | 205 | L>P | No | Ensembl | |
| rs2147697921 | 206 | S>G | No | Ensembl | |
| rs771416774 | 206 | S>R | No |
ExAC gnomAD |
|
| rs2147697908 | 207 | F>S | No | Ensembl | |
| rs747707407 | 207 | F>V | No |
ExAC TOPMed gnomAD |
|
|
rs2147697900 TCGA novel |
208 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2147697891 | 209 | T>A | No | Ensembl | |
| rs2147697891 | 209 | T>S | No | Ensembl | |
| rs2094242469 | 210 | R>Q | No | gnomAD | |
| rs2147697882 | 210 | R>W | No | Ensembl | |
| rs56269787 | 211 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1309664176 | 211 | R>S | No | gnomAD | |
| rs56269787 | 211 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1448682636 | 212 | R>C | No | gnomAD | |
| rs2147697845 | 212 | R>H | No | Ensembl | |
| rs1448682636 | 212 | R>S | No | gnomAD | |
| rs1007002260 | 213 | I>F | No |
TOPMed gnomAD |
|
| rs1297523379 | 213 | I>T | No | gnomAD | |
| rs2094242412 | 214 | R>G | No | TOPMed | |
| rs755998035 | 214 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs755998035 | 214 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs2094242412 | 214 | R>W | No | TOPMed | |
| rs1054581263 | 215 | R>K | No | Ensembl | |
| rs2094242378 | 216 | T>M | No | Ensembl | |
| rs553739688 | 218 | R>C | No |
1000Genomes gnomAD |
|
| rs201460834 | 218 | R>H | No |
1000Genomes ExAC gnomAD |
|
| rs201135721 | 220 | A>D | No | Ensembl | |
| rs1195667284 | 220 | A>T | No | gnomAD | |
| rs201135721 | 220 | A>V | No | Ensembl | |
| rs1483874962 | 221 | L>P | No |
TOPMed gnomAD |
|
| rs1483874962 | 221 | L>R | No |
TOPMed gnomAD |
|
| rs199868795 | 222 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs765732864 | 223 | R>H | No |
ExAC gnomAD |
|
| rs765732864 | 223 | R>P | No |
ExAC gnomAD |
|
| rs2147697735 | 224 | V>E | No | Ensembl | |
| rs2147697735 | 224 | V>G | No | Ensembl | |
| rs1347294643 | 224 | V>L | No | gnomAD | |
| rs760095854 | 225 | A>P | No |
ExAC gnomAD |
|
| rs760095854 | 225 | A>T | No |
ExAC gnomAD |
|
| rs2147697726 | 225 | A>V | No | Ensembl | |
| rs918213968 | 226 | A>T | No |
TOPMed gnomAD |
|
| rs1417147067 | 227 | C>S | No | TOPMed | |
| rs2147697703 | 227 | C>Y | No | Ensembl | |
| rs1480005481 | 228 | Q>* | No | gnomAD | |
| rs977630700 | 229 | A>S | No | Ensembl | |
|
COSM4833226 COSM4833225 |
229 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1396472179 | 229 | A>V | No |
TOPMed gnomAD |
|
| rs2147697670 | 230 | D>A | No | Ensembl | |
| rs2147697674 | 230 | D>H | No | Ensembl | |
| rs2147697670 | 230 | D>V | No | Ensembl | |
| rs557965316 | 231 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs557965316 | 231 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1381273944 | 231 | R>W | No | gnomAD | |
| rs2147697648 | 232 | H>P | No | Ensembl | |
| rs941028266 | 233 | S>L | No | TOPMed | |
| rs2094242212 | 234 | L>F | No | Ensembl | |
| rs2147697619 | 234 | L>H | No | Ensembl | |
| rs2147697619 | 234 | L>P | No | Ensembl | |
| TCGA novel | 234 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2147697614 | 236 | A>T | No | Ensembl | |
| rs2147697610 | 236 | A>V | No | Ensembl | |
| rs2147697601 | 237 | K>M | No | Ensembl | |
| rs917517183 | 238 | Y>* | No | Ensembl | |
| rs2147697595 | 238 | Y>N | No | Ensembl | |
| rs2147697587 | 238 | Y>S | No | Ensembl | |
| rs1160083927 | 240 | M>V | No |
TOPMed gnomAD |
|
| rs2147697570 | 241 | D>A | No | Ensembl | |
| rs2147697566 | 241 | D>E | No | Ensembl | |
| rs2147697570 | 241 | D>V | No | Ensembl | |
| rs1417493008 | 242 | L>P | No |
TOPMed gnomAD |
|
| rs1417493008 | 242 | L>Q | No |
TOPMed gnomAD |
|
| rs1417493008 | 242 | L>R | No |
TOPMed gnomAD |
|
| rs2147697563 | 242 | L>V | No | Ensembl | |
| rs2147697543 | 243 | E>G | No | Ensembl | |
| rs2147697543 | 243 | E>V | No | Ensembl | |
| rs1173941302 | 244 | R>G | No |
TOPMed gnomAD |
|
| rs992027786 | 244 | R>P | No |
TOPMed gnomAD |
|
| rs992027786 | 244 | R>Q | No |
TOPMed gnomAD |
|
| rs1173941302 | 244 | R>W | No |
TOPMed gnomAD |
|
| rs2094242147 | 245 | L>M | No | Ensembl | |
| rs2147697489 | 245 | L>P | No | Ensembl | |
| rs2147697489 | 245 | L>Q | No | Ensembl | |
| rs2147697489 | 245 | L>R | No | Ensembl | |
| rs2094242147 | 245 | L>V | No | Ensembl | |
| rs201006723 | 246 | D>A | No |
ExAC gnomAD |
|
| rs2094242123 | 246 | D>E | No | Ensembl | |
| rs201006723 | 246 | D>G | No |
ExAC gnomAD |
|
| rs1181569264 | 246 | D>Y | No | gnomAD | |
| rs767248290 | 247 | P>S | No |
ExAC gnomAD |
|
| rs2147697421 | 248 | A>G | No | Ensembl | |
| rs2147697432 | 248 | A>P | No | Ensembl | |
| rs2147697432 | 248 | A>T | No | Ensembl | |
| rs2147697421 | 248 | A>V | No | Ensembl | |
| rs2147697387 | 249 | G>A | No | Ensembl | |
| rs2147697397 | 249 | G>R | No | Ensembl | |
| rs2147697397 | 249 | G>W | No | Ensembl | |
| rs1286914027 | 250 | A>D | No | gnomAD | |
| rs1286914027 | 250 | A>G | No | gnomAD | |
| rs2147697371 | 250 | A>P | No | Ensembl | |
| rs2147697371 | 250 | A>S | No | Ensembl | |
| rs2147697371 | 250 | A>T | No | Ensembl | |
| rs2147697360 | 251 | A>P | No | Ensembl | |
|
rs2147697360 COSM327293 |
251 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2147697339 | 252 | E>A | No | Ensembl | |
| rs2147697339 | 252 | E>G | No | Ensembl | |
| rs2147697346 | 252 | E>K | No | Ensembl | |
| rs2147697346 | 252 | E>Q | No | Ensembl | |
| rs749177540 | 253 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs775569458 | 253 | T>I | No |
ExAC gnomAD |
|
| rs749177540 | 253 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs775569458 | 253 | T>S | No |
ExAC gnomAD |
|
| rs2147697319 | 254 | F>L | No | Ensembl | |
| rs2147697310 | 255 | H>P | No | Ensembl | |
| rs2094241995 | 255 | H>Q | No |
TOPMed gnomAD |
|
| rs2147697315 | 255 | H>Y | No | Ensembl | |
| rs2147697298 | 256 | V>G | No | Ensembl | |
| rs2147697304 | 256 | V>L | No | Ensembl | |
| rs2147697282 | 257 | G>A | No | Ensembl | |
| rs2147697287 | 257 | G>C | No | Ensembl | |
| rs2147697267 | 258 | L>P | No | Ensembl | |
| rs2094241964 | 259 | P>A | No | Ensembl | |
| rs745694523 | 259 | P>R | No |
ExAC gnomAD |
|
| rs2094241964 | 259 | P>S | No | Ensembl | |
| rs2147697246 | 260 | G>A | No | Ensembl | |
| rs777830679 | 261 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1017085435 | 262 | L>F | No | gnomAD | |
| rs2147697191 | 262 | L>P | No | Ensembl | |
| rs748166741 | 265 | H>P | No |
ExAC TOPMed gnomAD |
|
| rs778908329 | 265 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs748166741 | 265 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs2147697148 | 266 | D>A | No | Ensembl | |
| rs1370621788 | 266 | D>E | No | gnomAD | |
| rs2147697148 | 266 | D>G | No | Ensembl | |
| rs1458716173 | 266 | D>H | No | gnomAD | |
| rs2147697148 | 266 | D>V | No | Ensembl | |
| rs1458716173 | 266 | D>Y | No | gnomAD | |
| rs755056377 | 267 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs2094241860 | 267 | G>V | No | TOPMed | |
| rs766895335 | 269 | G>W | No |
ExAC TOPMed gnomAD |
|
| rs1210288740 | 270 | L>P | No |
TOPMed gnomAD |
|
| rs983924313 | 270 | L>V | No | Ensembl | |
| rs1256673531 | 271 | L>F | No |
TOPMed gnomAD |
|
| rs2094241795 | 271 | L>P | No | Ensembl | |
| rs2094241795 | 271 | L>R | No | Ensembl | |
| rs2147697083 | 272 | R>G | No | Ensembl | |
|
rs1195956859 COSM327295 |
272 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated gnomAD |
| rs1195956859 | 272 | R>P | No | gnomAD | |
|
rs1845812553 TCGA novel |
273 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed NCI-TCGA |
| rs1599879050 | 274 | A>G | No | Ensembl | |
| rs2094241772 | 274 | A>P | No | Ensembl | |
| rs2094241772 | 274 | A>T | No | Ensembl | |
| rs1599879050 | 274 | A>V | No | Ensembl | |
| rs756412780 | 275 | G>A | No |
ExAC gnomAD |
|
| rs756412780 | 275 | G>D | No |
ExAC gnomAD |
|
| rs1438332544 | 275 | G>S | No |
TOPMed gnomAD |
|
| rs1210711875 | 276 | D>A | No | gnomAD | |
| rs1210711875 | 276 | D>G | No | gnomAD | |
| rs1210711875 | 276 | D>V | No | gnomAD | |
| rs1263464270 | 277 | G>C | No | gnomAD | |
| rs1263464270 | 277 | G>S | No | gnomAD | |
| rs200147096 | 278 | G>C | No | Ensembl | |
| rs1232546829 | 278 | G>D | No | gnomAD | |
| rs200147096 | 278 | G>R | No | Ensembl | |
| rs2094241692 | 279 | I>L | No | Ensembl | |
| rs1396530798 | 279 | I>M | No |
TOPMed gnomAD |
|
| rs2147696958 | 279 | I>T | No | Ensembl | |
| rs2094241692 | 279 | I>V | No | Ensembl | |
| rs767070972 | 280 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs767070972 | 280 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs997871810 | 280 | A>V | No | TOPMed | |
| rs761583989 | 281 | W>G | No |
ExAC gnomAD |
|
| rs761583989 | 281 | W>R | No |
ExAC gnomAD |
|
| rs2094241639 | 282 | T>A | No | TOPMed | |
| rs1758874215 | 282 | T>I | No | TOPMed | |
| rs763628254 | 283 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs774157989 | 283 | Q>K | No |
ExAC gnomAD |
|
|
CA160258 RCV000121273 rs587778420 |
284 | G>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs371648741 | 284 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs587778420 | 284 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs1568406966 | 285 | E>* | No | TOPMed | |
| rs2147696868 | 285 | E>D | No | Ensembl | |
| rs1568406966 | 285 | E>K | No | TOPMed | |
| rs1568406966 | 285 | E>Q | No | TOPMed | |
| rs745649406 | 285 | E>V | No |
ExAC gnomAD |
|
| rs1007129169 | 286 | Q>L | No | Ensembl | |
| rs144755397 | 288 | V>G | No | Ensembl | |
| rs2147695682 | 289 | L>F | No | Ensembl | |
| rs1420546108 | 290 | Q>* | No | gnomAD | |
| rs759001177 | 291 | P>L | No |
ExAC gnomAD |
|
| rs200449840 | 291 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2094239595 | 294 | D>H | No | Ensembl | |
| rs766276364 | 297 | E>K | No |
ExAC gnomAD |
|
| rs1484396051 | 299 | V>I | No | gnomAD | |
| rs2147695612 | 300 | D>V | No | Ensembl | |
| rs1222393026 | 301 | I>M | No |
TOPMed gnomAD |
|
| rs1286735165 | 301 | I>V | No | gnomAD | |
| rs751055857 | 302 | S>I | No |
TOPMed gnomAD |
|
| rs1312363172 | 306 | A>D | No | gnomAD | |
| rs763102720 | 306 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs763102720 | 306 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1312363172 | 306 | A>V | No | gnomAD | |
| rs199815093 | 307 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs199815093 | 307 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs199815093 | 307 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs2094239433 | 307 | P>S | No | TOPMed | |
| rs1029717182 | 308 | R>C | No | TOPMed | |
| rs1029717182 | 308 | R>G | No | TOPMed | |
| rs2094239394 | 309 | V>G | No | TOPMed | |
| rs2147695517 | 309 | V>I | No | Ensembl | |
| rs1599877889 | 310 | G>D | No | Ensembl | |
| rs1599877889 | 310 | G>V | No | Ensembl | |
| rs201290259 | 311 | P>A | No | gnomAD | |
| rs781705937 | 311 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs2147695481 | 312 | A>T | No | Ensembl | |
| rs200319694 | 313 | G>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2147695472 | 313 | G>R | No | Ensembl | |
| rs1203292162 | 314 | E>G | No | gnomAD | |
| rs2094239321 | 315 | H>L | No | Ensembl | |
| rs2094239321 | 315 | H>P | No | Ensembl | |
| rs1321747262 | 315 | H>Q | No |
TOPMed gnomAD |
|
|
COSM992935 COSM1589880 rs2147695453 |
315 | H>Y | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs747368386 | 316 | R>C | No |
ExAC gnomAD |
|
| rs778229078 | 316 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs778229078 | 316 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs758841194 | 317 | L>P | No |
ExAC gnomAD |
|
| rs2147695424 | 318 | V>D | No | Ensembl | |
| rs2094239272 | 318 | V>L | No | Ensembl | |
| rs2094239257 | 319 | T>A | No | TOPMed | |
| rs1489008484 | 319 | T>I | No | gnomAD | |
| rs1270413949 | 320 | V>I | No | gnomAD | |
| rs1270413949 | 320 | V>L | No | gnomAD | |
| rs2094239220 | 321 | T>A | No | Ensembl | |
| rs2147695394 | 321 | T>I | No | Ensembl | |
| rs2147695394 | 321 | T>S | No | Ensembl | |
| rs2094239220 | 321 | T>S | No | Ensembl | |
| rs202206608 | 322 | R>G | No | Ensembl | |
| TCGA novel | 323 | T>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4075505 COSM4075506 |
323 | T>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1291046706 | 324 | D>A | No |
TOPMed gnomAD |
|
| rs1291046706 | 324 | D>G | No |
TOPMed gnomAD |
|
| rs753329637 | 327 | I>M | No |
ExAC gnomAD |
|
| rs2147695080 | 330 | A>G | No | Ensembl | |
| rs2147695085 | 330 | A>P | No | Ensembl | |
| rs2147695085 | 330 | A>T | No | Ensembl | |
| rs2147695080 | 330 | A>V | No | Ensembl | |
|
CA160264 RCV000121275 rs201387977 |
331 | E>K | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2147695048 | 332 | F>I | No | Ensembl | |
| rs765488473 | 333 | P>L | No |
ExAC gnomAD |
|
| rs765488473 | 333 | P>Q | No |
ExAC gnomAD |
|
| rs199908476 | 333 | P>S | No | gnomAD | |
| rs2147695014 | 334 | G>A | No | Ensembl | |
| rs759623027 | 334 | G>R | No |
ExAC gnomAD |
|
| rs2147694996 | 336 | P>R | No | Ensembl | |
| rs1418518292 | 337 | E>Q | No | TOPMed | |
| rs2147694980 | 338 | A>T | No | Ensembl | |
| rs1312899542 | 338 | A>V | No | gnomAD | |
| rs2094238720 | 340 | S>L | No | Ensembl | |
| rs978017984 | 342 | V>L | No |
TOPMed gnomAD |
|
| rs978017984 | 342 | V>M | No |
TOPMed gnomAD |
|
| rs2147694942 | 343 | A>E | No | Ensembl | |
|
COSM1211230 rs2147694942 COSM1211229 |
343 | A>V | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2147694928 | 344 | L>H | No | Ensembl | |
| rs2147694917 | 345 | V>M | No | Ensembl | |
| rs2147694914 | 346 | D>H | No | Ensembl | |
| rs2147694902 | 347 | G>D | No | Ensembl | |
| rs1377738630 | 347 | G>S | No | Ensembl | |
| rs1297578416 | 348 | Y>C | No | gnomAD | |
| rs1297578416 | 348 | Y>F | No | gnomAD | |
| rs1371129368 | 348 | Y>H | No | gnomAD | |
| rs748541941 | 349 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1376805771 | 350 | R>Q | No | gnomAD | |
| rs2147694870 | 350 | R>W | No | Ensembl | |
| rs2094238612 | 353 | T>M | No | Ensembl | |
| rs1433720267 | 355 | S>C | No | gnomAD | |
| rs1160315150 | 356 | Q>H | No | gnomAD | |
| rs2147694809 | 357 | H>L | No | Ensembl | |
| TCGA novel | 357 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1421293287 | 358 | F>L | No | gnomAD | |
| rs2147694792 | 358 | F>L | No | Ensembl | |
| rs200863318 | 358 | F>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs769077887 | 359 | F>Y | No |
ExAC gnomAD |
|
|
rs1555745343 CA658684228 RCV000588215 |
359 | F>missing | No |
ClinGen ClinVar dbSNP |
|
| rs1568406341 | 360 | C>G | No | TOPMed | |
| rs1568406341 | 360 | C>R | No | TOPMed | |
| rs1568406341 | 360 | C>S | No | TOPMed | |
| rs200193654 | 362 | E>A | No |
ExAC TOPMed gnomAD |
|
| rs1208932448 | 362 | E>K | No |
TOPMed gnomAD |
|
| rs1208932448 | 362 | E>Q | No |
TOPMed gnomAD |
|
| rs200193654 | 362 | E>V | No |
ExAC TOPMed gnomAD |
|
| rs1240876834 | 364 | A>S | No | gnomAD | |
| rs1240876834 | 364 | A>T | No | gnomAD | |
| rs2147694748 | 364 | A>V | No | Ensembl | |
| rs2094238444 | 365 | P>L | No | TOPMed | |
| rs544286389 | 365 | P>S | No | 1000Genomes | |
| rs2147694721 | 366 | P>A | No | Ensembl | |
| rs201657999 | 366 | P>Q | No | Ensembl | |
| rs201657999 | 366 | P>R | No | Ensembl | |
| rs1306182610 | 367 | R>K | No | gnomAD | |
| rs1396599867 | 367 | R>S | No | gnomAD | |
| rs1356740696 | 368 | L>V | No | gnomAD | |
| rs1310557168 | 369 | L>V | No |
TOPMed gnomAD |
|
| rs2094238380 | 371 | E>K | No | Ensembl | |
| rs1290317618 | 372 | V>A | No | gnomAD | |
| rs1290317618 | 372 | V>E | No | gnomAD | |
| rs779710027 | 373 | A>G | No |
ExAC gnomAD |
|
| rs779710027 | 373 | A>V | No |
ExAC gnomAD |
|
| rs769243134 | 374 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs2147694639 | 375 | Q>* | No | Ensembl | |
| rs1599877381 | 376 | C>G | No | Ensembl | |
| rs2147694626 | 376 | C>Y | No | Ensembl | |
| rs2147694608 | 377 | H>L | No | Ensembl | |
| rs2147694608 | 377 | H>P | No | Ensembl | |
| rs55802448 | 377 | H>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1420054751 | 377 | H>Y | No | gnomAD | |
| rs1250190863 | 378 | G>D | No | gnomAD | |
| rs1485406844 | 378 | G>R | No | gnomAD | |
| rs1485406844 | 378 | G>S | No | gnomAD | |
| rs1484766219 | 379 | P>R | No | gnomAD | |
| rs1207174701 | 379 | P>T | No | gnomAD | |
| rs2094238252 | 380 | I>L | No | Ensembl | |
| rs2094238252 | 380 | I>V | No | Ensembl | |
| rs1336884918 | 381 | T>P | No | gnomAD | |
| rs1336884918 | 381 | T>S | No | gnomAD | |
| rs1338241562 | 383 | D>N | No | gnomAD | |
| rs1568405689 | 384 | F>C | No | Ensembl | |
| COSM98349 | 384 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000788209 rs1599876253 |
384 | F>L | No |
ClinVar TOPMed dbSNP |
|
| rs1568405689 | 384 | F>S | No | Ensembl | |
| rs1021052090 | 385 | A>D | No | Ensembl | |
| rs1021052090 | 385 | A>V | No | Ensembl | |
| rs2147692919 | 386 | I>V | No | Ensembl | |
|
rs745373403 COSM4075504 COSM4075503 |
387 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs1301716363 | 387 | N>K | No | gnomAD | |
| rs1309348650 | 387 | N>T | No |
TOPMed gnomAD |
|
| rs960697059 | 389 | L>F | No | Ensembl | |
| rs1194175039 | 390 | K>N | No | gnomAD | |
| rs148184068 | 391 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2094235025 | 392 | G>E | No | gnomAD | |
| rs199896115 | 393 | G>A | No |
TOPMed gnomAD |
|
| rs1853373770 | 393 | G>C | No | TOPMed | |
| rs199896115 | 393 | G>D | No |
TOPMed gnomAD |
|
|
COSM1148117 COSM711169 |
394 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777790283 | 395 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs143038064 | 395 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1436832153 | 396 | P>S | No |
TOPMed gnomAD |
|
| rs1014042744 | 397 | G>V | No | TOPMed | |
| rs201199447 | 399 | Y>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1470415280 | 400 | V>I | No |
TOPMed gnomAD |
|
| rs1470415280 | 400 | V>L | No |
TOPMed gnomAD |
|
| rs750687910 | 402 | R>C | No |
ExAC TOPMed gnomAD |
|
|
COSM4075501 COSM4075502 rs767428670 |
402 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs767428670 | 402 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1257606008 | 403 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1599876167 | 403 | R>P | No |
TOPMed gnomAD |
|
|
COSM1391571 rs2094234857 COSM1391572 |
404 | S>N | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2094234857 | 404 | S>T | No | Ensembl | |
| rs1267642970 | 405 | P>R | No | Ensembl | |
| rs2094234841 | 405 | P>S | No | TOPMed | |
| rs2094234823 | 406 | Q>H | No | Ensembl | |
| rs373749238 | 406 | Q>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs373749238 | 406 | Q>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs373749238 | 406 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1345321927 | 407 | D>E | No | gnomAD | |
| rs2147692714 | 409 | D>G | No | Ensembl | |
| rs2147692722 | 409 | D>N | No | Ensembl | |
|
COSM1589881 COSM992933 |
410 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2147692704 | 410 | S>N | No | Ensembl | |
| rs2147692704 | 410 | S>T | No | Ensembl | |
| rs1599876125 | 416 | C>F | No | Ensembl | |
| rs2094234761 | 418 | Q>H | No | TOPMed | |
| rs765549264 | 419 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs2147691523 | 419 | N>T | No | Ensembl | |
| rs1315734619 | 420 | P>A | No |
TOPMed gnomAD |
|
| rs776128639 | 420 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs776128639 | 420 | P>R | No |
ExAC TOPMed gnomAD |
|
|
COSM711170 COSM1148116 rs1315734619 |
420 | P>S | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1315734619 | 420 | P>T | No |
TOPMed gnomAD |
|
| rs267605359 | 421 | L>F | No |
ExAC gnomAD |
|
| rs267605359 | 421 | L>V | No |
ExAC gnomAD |
|
| rs2147691483 | 422 | G>A | No | Ensembl | |
| TCGA novel | 422 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs973187354 | 424 | D>E | No |
TOPMed gnomAD |
|
| rs1568405193 | 424 | D>G | No | gnomAD | |
| rs2094232862 | 425 | Y>C | No | TOPMed | |
| rs1599875464 | 426 | K>M | No | Ensembl | |
| rs1476203763 | 426 | K>Q | No | gnomAD | |
| rs1599875464 | 426 | K>R | No | Ensembl | |
| rs2094232831 | 427 | G>A | No |
TOPMed gnomAD |
|
| rs2094232831 | 427 | G>D | No |
TOPMed gnomAD |
|
| rs2094232831 | 427 | G>V | No |
TOPMed gnomAD |
|
| rs771722300 | 428 | C>W | No |
ExAC gnomAD |
|
| rs2147691424 | 428 | C>Y | No | Ensembl | |
| rs200836500 | 429 | L>F | No | gnomAD | |
| rs200836500 | 429 | L>V | No | gnomAD | |
| rs1464769693 | 430 | I>M | No |
TOPMed gnomAD |
|
| rs1274345651 | 431 | R>G | No |
TOPMed gnomAD |
|
| rs144953325 | 431 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs144953325 | 431 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs768522857 | 432 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs749143191 | 432 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2147691362 | 433 | S>N | No | Ensembl | |
|
COSM71230 rs199706172 |
435 | T>I | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3530604 COSM3530605 |
436 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1364385330 | 437 | T>P | No | gnomAD | |
| rs1364385330 | 437 | T>S | No | gnomAD | |
| rs2094232701 | 438 | F>Y | No | Ensembl | |
| rs573731097 | 439 | L>F | No | Ensembl | |
| TCGA novel | 439 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757563061 | 439 | L>P | No |
ExAC gnomAD |
|
| rs1371532306 | 440 | L>P | No | gnomAD | |
| rs2147691315 | 441 | V>L | No | Ensembl | |
| rs2147691310 | 442 | G>R | No | Ensembl | |
| rs2147691302 | 443 | L>P | No | Ensembl | |
| rs2147691298 | 444 | S>T | No | Ensembl | |
| rs777849274 | 445 | R>P | No |
ExAC gnomAD |
|
|
COSM3822312 COSM3822311 rs777849274 |
445 | R>Q | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs2147691269 | 446 | P>L | No | Ensembl | |
| rs2094232614 | 446 | P>S | No | gnomAD | |
| rs1170573879 | 447 | H>L | No |
TOPMed gnomAD |
|
| rs2147691262 | 447 | H>N | No | Ensembl | |
| rs1170573879 | 447 | H>R | No |
TOPMed gnomAD |
|
| rs1411196061 | 448 | S>G | No |
TOPMed gnomAD |
|
|
TCGA novel rs2147691241 |
448 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2094232583 | 448 | S>R | No | TOPMed | |
| rs377624533 | 449 | S>I | No | Ensembl | |
| rs377624533 | 449 | S>N | No | Ensembl | |
| rs377624533 | 449 | S>T | No | Ensembl | |
| rs267605358 | 451 | R>G | No | gnomAD | |
| rs145751599 | 451 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1484358261 | 453 | L>V | No |
TOPMed gnomAD |
|
| rs1449242663 | 454 | L>P | No |
TOPMed gnomAD |
|
| rs2094232521 | 455 | A>E | No |
TOPMed gnomAD |
|
| rs2147691190 | 455 | A>P | No | Ensembl | |
| rs2094232521 | 455 | A>V | No |
TOPMed gnomAD |
|
| rs779799795 | 456 | T>I | No | Ensembl | |
| rs2147691182 | 456 | T>S | No | Ensembl | |
| rs765784269 | 457 | C>S | No |
ExAC gnomAD |
|
| rs765784269 | 457 | C>Y | No |
ExAC gnomAD |
|
| rs1467541371 | 458 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM169321 rs373774937 |
458 | W>L | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2147691144 | 459 | D>E | No | Ensembl | |
| rs755309429 | 460 | G>R | No |
ExAC gnomAD |
|
| rs754298986 | 461 | G>E | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 462 | L>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2094232446 | 462 | L>P | No | Ensembl | |
| rs2147691107 | 463 | H>L | No | Ensembl | |
|
COSM4075499 COSM4075500 |
464 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1348255401 | 464 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2094232417 | 465 | D>E | No | Ensembl | |
| rs2094232411 | 466 | G>R | No | TOPMed | |
| rs2147691061 | 467 | V>G | No | Ensembl | |
| rs1438576059 | 467 | V>M | No | gnomAD | |
|
COSM992931 COSM1589882 rs2147691050 |
468 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2147691040 | 469 | V>M | No | Ensembl | |
| rs1298730151 | 472 | T>A | No | gnomAD | |
| rs1298730151 | 472 | T>P | No | gnomAD | |
| rs2147691012 | 474 | C>S | No | Ensembl | |
| rs1443727838 | 475 | C>Y | No |
TOPMed gnomAD |
|
| rs1434959025 | 476 | I>T | No | gnomAD | |
| rs761428464 | 476 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1175948890 | 477 | P>S | No |
TOPMed gnomAD |
|
| rs774407972 | 478 | R>G | No |
ExAC gnomAD |
|
| rs2094232293 | 478 | R>K | No | gnomAD | |
| rs1346219310 | 479 | P>H | No |
TOPMed gnomAD |
|
| rs1346219310 | 479 | P>L | No |
TOPMed gnomAD |
|
| rs200480212 | 479 | P>S | No | Ensembl | |
| rs2147689136 | 481 | E>D | No | Ensembl | |
| rs2147689142 | 481 | E>V | No | Ensembl | |
| rs2147689131 | 482 | K>E | No | Ensembl | |
| rs2147689124 | 482 | K>M | No | Ensembl | |
| rs2147689119 | 482 | K>N | No | Ensembl | |
| rs2147689107 | 483 | S>C | No | Ensembl | |
| rs2147689107 | 483 | S>F | No | Ensembl | |
| rs2147689114 | 483 | S>T | No | Ensembl | |
| rs2147689095 | 484 | N>H | No | Ensembl | |
| rs780449308 | 484 | N>I | No |
ExAC gnomAD |
|
| rs2147689085 | 484 | N>K | No | Ensembl | |
| rs780449308 | 484 | N>S | No |
ExAC gnomAD |
|
| rs780449308 | 484 | N>T | No |
ExAC gnomAD |
|
| rs2147689095 | 484 | N>Y | No | Ensembl | |
| rs55883965 | 485 | L>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2147689069 | 485 | L>P | No | Ensembl | |
| rs2147689069 | 485 | L>Q | No | Ensembl | |
| rs55883965 | 485 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2147689049 | 486 | I>F | No | Ensembl | |
| rs2147689049 | 486 | I>L | No | Ensembl | |
| rs1297346398 | 486 | I>M | No |
TOPMed gnomAD |
|
| rs2147689039 | 486 | I>N | No | Ensembl | |
| rs2147689039 | 486 | I>S | No | Ensembl | |
| rs2147689007 | 487 | V>E | No | Ensembl | |
| rs2147689007 | 487 | V>G | No | Ensembl | |
| rs2147689016 | 487 | V>L | No | Ensembl | |
| rs2147688995 | 488 | V>I | No | Ensembl | |
| rs2147688995 | 488 | V>L | No | Ensembl | |
|
COSM1480775 COSM1480774 rs2147688980 |
489 | Q>H | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1442237381 | 489 | Q>R | No | gnomAD | |
| rs1221510470 | 490 | R>* | No | gnomAD | |
| rs1221510470 | 490 | R>G | No | gnomAD | |
| rs2147688966 | 490 | R>I | No | Ensembl | |
| rs2147688966 | 490 | R>K | No | Ensembl | |
| rs2147688957 | 490 | R>S | No | Ensembl | |
| rs2147688966 | 490 | R>T | No | Ensembl | |
| rs2147688945 | 491 | G>D | No | Ensembl | |
| rs200112185 | 491 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2147688935 | 492 | H>D | No | Ensembl | |
| rs2147688932 | 492 | H>L | No | Ensembl | |
| rs2147688932 | 492 | H>P | No | Ensembl | |
| rs2147688927 | 492 | H>Q | No | Ensembl | |
| rs2147688935 | 492 | H>Y | No | Ensembl | |
|
rs2147688919 COSM48455 |
493 | S>C | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2147688919 | 493 | S>G | No | Ensembl | |
| rs1386273248 | 493 | S>N | No | gnomAD | |
|
COSM711172 COSM1148114 rs2147688912 |
493 | S>R | Variant assessed as Somatic; MODERATE impact. lung [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1397389786 | 494 | P>A | No |
TOPMed gnomAD |
|
| rs2094229519 | 494 | P>L | No | TOPMed | |
| rs1397389786 | 494 | P>S | No |
TOPMed gnomAD |
|
|
TCGA novel rs1397389786 |
494 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2094229513 | 495 | P>A | No | Ensembl | |
| rs1225517482 | 495 | P>H | No | TOPMed | |
| rs1225517482 | 495 | P>L | No | TOPMed | |
| rs1225517482 | 495 | P>R | No | TOPMed | |
| rs1428081698 | 496 | T>I | No | gnomAD | |
| rs1428081698 | 496 | T>R | No | gnomAD | |
| rs2094229478 | 497 | S>* | No | gnomAD | |
| rs2094229478 | 497 | S>L | No | gnomAD | |
| rs2147688845 | 497 | S>P | No | Ensembl | |
| rs2147688845 | 497 | S>T | No | Ensembl | |
| rs2147688829 | 498 | S>C | No | Ensembl | |
| rs2147688829 | 498 | S>F | No | Ensembl | |
| rs780202856 | 498 | S>P | No | Ensembl | |
| rs780202856 | 498 | S>T | No | Ensembl | |
| rs2147688829 | 498 | S>Y | No | Ensembl | |
| rs2147688820 | 499 | L>* | No | Ensembl | |
|
rs1173998375 COSM1148113 COSM711173 |
499 | L>F | lung [Cosmic] | No |
cosmic curated gnomAD |
| rs1389267989 | 499 | L>M | No |
TOPMed gnomAD |
|
| rs1389267989 | 499 | L>V | No |
TOPMed gnomAD |
|
| rs2094229425 | 500 | V>A | No |
TOPMed gnomAD |
|
| rs2094229434 | 500 | V>F | No | Ensembl | |
| rs2094229434 | 500 | V>L | No | Ensembl | |
| rs2147688786 | 501 | Q>* | No | Ensembl | |
| rs2147688786 | 501 | Q>E | No | Ensembl | |
| rs2147688776 | 501 | Q>L | No | Ensembl | |
| rs2147688776 | 501 | Q>R | No | Ensembl | |
| rs2147688759 | 502 | P>A | No | Ensembl | |
| rs1375844585 | 502 | P>H | No |
TOPMed gnomAD |
|
| rs1375844585 | 502 | P>L | No |
TOPMed gnomAD |
|
| rs1375844585 | 502 | P>R | No |
TOPMed gnomAD |
|
| rs2147688759 | 502 | P>S | No | Ensembl | |
| rs2147688759 | 502 | P>T | No | Ensembl | |
| rs2147688745 | 503 | Q>* | No | Ensembl | |
| rs2147688745 | 503 | Q>E | No | Ensembl | |
| rs201207773 | 503 | Q>H | No |
TOPMed gnomAD |
|
| rs2147688745 | 503 | Q>K | No | Ensembl | |
| rs1599874081 | 504 | S>C | No | Ensembl | |
| rs1599874081 | 504 | S>F | No | Ensembl | |
| rs1599874081 | 504 | S>Y | No | Ensembl | |
| rs2147688709 | 505 | Q>* | No | Ensembl | |
| rs2147688709 | 505 | Q>K | No | Ensembl | |
| rs1437835054 | 506 | Y>* | No |
TOPMed gnomAD |
|
| rs2147688704 | 506 | Y>N | No | Ensembl | |
| rs1252062603 | 507 | Q>* | No | gnomAD | |
| rs1252062603 | 507 | Q>E | No | gnomAD | |
| rs2147688678 | 507 | Q>H | No | Ensembl | |
|
COSM1579125 COSM1579126 |
507 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM565395 COSM6084219 rs140690573 COSM1141574 COSM6084220 |
507 | Q>R | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs2147688667 | 508 | L>P | No | Ensembl | |
| rs2147688667 | 508 | L>Q | No | Ensembl | |
| rs2147688671 | 508 | L>V | No | Ensembl | |
| rs2147688657 | 509 | S>C | No | Ensembl | |
| rs2147688648 | 509 | S>R | No | Ensembl | |
| rs2147688654 | 509 | S>T | No | Ensembl | |
| rs763628238 | 510 | Q>E | No |
ExAC gnomAD |
|
| rs2147688631 | 510 | Q>H | No | Ensembl | |
| rs763628238 | 510 | Q>K | No |
ExAC gnomAD |
|
|
COSM306058 COSM4776563 COSM51374 COSM1717469 rs752661478 COSM1318360 |
511 | M>I | Variant assessed as Somatic; MODERATE impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic ExAC gnomAD NCI-TCGA |
| rs2147688615 | 511 | M>K | No | Ensembl | |
| rs2147688615 | 511 | M>R | No | Ensembl | |
|
rs2147688615 COSM1391567 COSM1391568 |
511 | M>T | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs929313993 | 511 | M>V | No |
TOPMed gnomAD |
|
| rs2147688597 | 512 | T>A | No | Ensembl | |
| rs2147688583 | 512 | T>I | No | Ensembl | |
| rs2147688583 | 512 | T>R | No | Ensembl | |
| rs2147688597 | 512 | T>S | No | Ensembl | |
| rs2147688567 | 513 | F>Y | No | Ensembl | |
| rs2147688557 | 514 | H>D | No | Ensembl | |
| rs2147688544 | 514 | H>Q | No | Ensembl | |
| rs2147688557 | 514 | H>Y | No | Ensembl | |
| rs2147688539 | 515 | K>E | No | Ensembl | |
| rs2094229298 | 515 | K>N | No | TOPMed | |
| rs2147688533 | 515 | K>R | No | Ensembl | |
| rs899236382 | 516 | I>F | No | TOPMed | |
| rs1264851974 | 517 | P>A | No | TOPMed | |
| rs759375144 | 517 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1264851974 | 517 | P>S | No | TOPMed | |
| rs2147688469 | 518 | A>G | No | Ensembl | |
| rs2094229238 | 518 | A>P | No | Ensembl | |
| rs2094229238 | 518 | A>T | No | Ensembl | |
| rs2147688469 | 518 | A>V | No | Ensembl | |
| rs2147688446 | 519 | D>A | No | Ensembl | |
| rs2147688441 | 519 | D>E | No | Ensembl | |
| rs2147688446 | 519 | D>G | No | Ensembl | |
| rs2147688451 | 519 | D>H | No | Ensembl | |
| rs2147688451 | 519 | D>N | No | Ensembl | |
| rs2147688446 | 519 | D>V | No | Ensembl | |
| rs2147688432 | 520 | S>I | No | Ensembl | |
| rs2147688432 | 520 | S>N | No | Ensembl | |
| rs2147688427 | 520 | S>R | No | Ensembl | |
| rs1568404443 | 521 | L>* | No | Ensembl | |
| rs938931127 | 521 | L>P | No | TOPMed | |
| rs938931127 | 521 | L>Q | No | TOPMed | |
| rs938931127 | 521 | L>R | No | TOPMed | |
| rs2147688370 | 522 | E>D | No | Ensembl | |
| rs977040058 | 522 | E>K | No |
TOPMed gnomAD |
|
| rs977040058 | 522 | E>Q | No |
TOPMed gnomAD |
|
| rs1305851796 | 523 | W>* | No |
TOPMed gnomAD |
|
| rs2094229151 | 523 | W>* | No | Ensembl | |
| rs1305851796 | 523 | W>C | No |
TOPMed gnomAD |
|
| rs199635089 | 523 | W>R | No |
TOPMed gnomAD |
|
| rs2094228688 | 524 | H>P | No | TOPMed | |
| rs2147687759 | 525 | E>V | No | Ensembl | |
|
COSM1304180 COSM1304181 |
526 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs938877311 | 526 | N>K | No | TOPMed | |
|
rs2147687744 VAR_041725 COSM20527 COSM1391566 |
527 | L>P | large_intestine stomach a gastric adenocarcinoma sample; somatic mutation [Cosmic, UniProt] | No |
cosmic curated Ensembl UniProt |
|
COSM4075498 COSM4075497 rs2147687744 |
527 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2147687749 | 527 | L>V | No | Ensembl | |
| rs1189555342 | 528 | G>C | No | gnomAD | |
| rs1456950456 | 528 | G>D | No | TOPMed | |
| rs1189555342 | 528 | G>S | No | gnomAD | |
| rs142805245 | 529 | H>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2094228617 | 529 | H>Q | No | TOPMed | |
| rs2147687698 | 530 | G>V | No | Ensembl | |
| rs2147687687 | 531 | S>T | No | Ensembl | |
| rs563671651 | 533 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs563671651 | 533 | T>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2094228591 | 534 | K>N | No | Ensembl | |
| rs1041968440 | 534 | K>R | No | TOPMed | |
| rs2147687649 | 536 | Y>* | No | Ensembl | |
| rs947013627 | 536 | Y>H | No | TOPMed | |
| rs947013627 | 536 | Y>N | No | TOPMed | |
| rs746305522 | 537 | R>G | No |
ExAC gnomAD |
|
| rs587778413 | 537 | R>P | No |
ExAC TOPMed gnomAD |
|
|
rs587778413 RCV000121256 CA160207 |
537 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs771370727 | 538 | G>C | No |
ExAC gnomAD |
|
|
COSM1480772 COSM1480773 rs2147687631 |
538 | G>D | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs771370727 | 538 | G>S | No |
ExAC gnomAD |
|
| rs2147687631 | 538 | G>V | No | Ensembl | |
| rs777479500 | 539 | C>F | No |
ExAC gnomAD |
|
| rs747421326 | 539 | C>R | No |
ExAC gnomAD |
|
| rs777479500 | 539 | C>S | No |
ExAC gnomAD |
|
| rs777479500 | 539 | C>Y | No |
ExAC gnomAD |
|
| rs747854515 | 540 | R>G | No |
ExAC gnomAD |
|
|
COSM182106 rs199649035 |
540 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM1645481 COSM1645480 rs199649035 |
540 | R>L | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs747854515 | 540 | R>S | No |
ExAC gnomAD |
|
| rs148777897 | 541 | H>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs148777897 | 541 | H>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs753728906 | 543 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs574886391 | 544 | V>L | No |
1000Genomes ExAC |
|
| rs750284260 | 546 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs1284790510 | 546 | G>R | No |
TOPMed gnomAD |
|
| rs1284790510 | 546 | G>W | No |
TOPMed gnomAD |
|
| rs2147687528 | 547 | E>G | No | Ensembl | |
| rs2147687528 | 547 | E>V | No | Ensembl | |
| rs1223128025 | 548 | A>T | No | gnomAD | |
|
COSM182105 rs2147687514 |
548 | A>V | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
|
COSM4846734 COSM4846733 |
552 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2094228353 | 554 | L>P | No | Ensembl | |
| rs765187335 | 555 | L>V | No |
ExAC gnomAD |
|
| rs2094228326 | 556 | K>E | No | Ensembl | |
| rs2147687450 | 557 | V>D | No | Ensembl | |
|
COSM3530603 COSM3530602 |
557 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777252992 | 558 | M>K | No |
ExAC TOPMed gnomAD |
|
| rs200993230 | 558 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs2094228290 | 559 | D>H | No | gnomAD | |
|
TCGA novel rs2094228290 |
559 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs886054279 | 560 | A>V | No | Ensembl | |
| rs2147687404 | 562 | H>L | No | Ensembl | |
| rs1320062456 | 562 | H>Y | No | gnomAD | |
| rs2147687402 | 564 | N>K | No | Ensembl | |
| rs2094228237 | 565 | C>Y | No |
TOPMed gnomAD |
|
| rs1599873585 | 566 | M>T | No | Ensembl | |
|
COSM3530600 COSM3530601 |
567 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs865838999 | 568 | S>L | No | Ensembl | |
| rs1368288706 | 571 | E>G | No | gnomAD | |
| rs1223255851 | 572 | A>P | No | Ensembl | |
| rs1307085219 | 573 | A>T | No | gnomAD | |
|
rs2147686240 COSM34215 COSM4776550 |
573 | A>V | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1660094857 | 575 | L>F | No | TOPMed | |
| rs1360119374 | 576 | M>I | No | gnomAD | |
| rs200578599 | 577 | S>I | No |
ExAC gnomAD |
|
| rs868721166 | 577 | S>R | No | TOPMed | |
| rs200093529 | 579 | V>L | No |
TOPMed gnomAD |
|
| rs587778414 | 580 | S>* | No |
ExAC TOPMed gnomAD |
|
|
RCV000121257 CA160210 rs587778414 COSM182104 COSM5879621 |
580 | S>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1414929375 | 581 | Y>H | No | TOPMed | |
| rs368885175 | 582 | R>L | No |
ESP TOPMed gnomAD |
|
| rs368885175 | 582 | R>Q | No |
ESP TOPMed gnomAD |
|
| rs958697344 | 583 | H>P | No |
TOPMed gnomAD |
|
| rs2147686143 | 584 | L>F | No | Ensembl | |
| rs2147686143 | 584 | L>V | No | Ensembl | |
| rs199600889 | 585 | V>L | No |
ExAC gnomAD |
|
| rs2147686121 | 587 | L>F | No | Ensembl | |
| rs1207883288 | 588 | H>L | No | gnomAD | |
| rs2147686099 | 589 | G>D | No | Ensembl | |
| rs779480606 | 591 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs1415036742 | 592 | M>T | No | gnomAD | |
| rs1568403741 | 592 | M>V | No | gnomAD | |
| rs2094226133 | 593 | A>D | No | TOPMed | |
|
COSM35859 rs2147686060 |
593 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2147686050 | 594 | G>R | No | Ensembl | |
| rs2147686043 | 595 | D>V | No | Ensembl | |
| rs1199579133 | 596 | S>N | No | gnomAD | |
| rs202065927 | 597 | T>I | No | gnomAD | |
| rs201733436 | 598 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1208827981 | 598 | M>V | No | gnomAD | |
| rs2147684362 | 599 | V>L | No | Ensembl | |
| TCGA novel | 601 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4893832 COSM4893831 |
601 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2094223501 | 604 | H>P | No | gnomAD | |
| rs2147684338 | 605 | L>V | No | Ensembl | |
| rs2094223481 | 606 | G>E | No |
TOPMed gnomAD |
|
| rs2094223486 | 606 | G>R | No | Ensembl | |
| rs1207720672 | 607 | A>D | No | gnomAD | |
| TCGA novel | 607 | A>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1490183415 | 607 | A>P | No | gnomAD | |
| rs1490183415 | 607 | A>T | No | gnomAD | |
| rs1207720672 | 607 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs764401083 | 608 | I>L | No |
ExAC gnomAD |
|
| rs2094223452 | 608 | I>M | No | gnomAD | |
| rs764401083 | 608 | I>V | No |
ExAC gnomAD |
|
| rs2094223439 | 609 | D>G | No | TOPMed | |
| TCGA novel | 609 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 609 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000121259 CA160216 rs587778415 |
610 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1297422849 | 610 | M>V | No | gnomAD | |
| rs1257320432 | 613 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs764977510 | 615 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs764977510 | 615 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs370419724 | 616 | G>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs370419724 | 616 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs2094223364 | 617 | H>Y | No | TOPMed | |
| rs776151011 | 619 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs776151011 | 619 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs2147684218 | 621 | A>V | No | Ensembl | |
| rs1173039574 | 622 | S>N | No | gnomAD | |
| rs201925056 | 622 | S>R | No | TOPMed | |
| rs2094223330 | 622 | S>R | No | gnomAD | |
| rs1173039574 | 622 | S>T | No | gnomAD | |
|
COSM1712032 COSM1712031 rs773308335 |
623 | W>* | skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs746929113 | 623 | W>R | No |
ExAC gnomAD |
|
| rs2147684182 | 626 | Q>* | No | Ensembl | |
| rs2147684182 | 626 | Q>E | No | Ensembl | |
| rs2094223307 | 626 | Q>R | No |
TOPMed gnomAD |
|
| rs1599871553 | 627 | V>G | No | Ensembl | |
| rs2147684169 | 628 | V>D | No | Ensembl | |
| rs2094223269 | 632 | A>P | No | gnomAD | |
| rs2147684149 | 632 | A>V | No | Ensembl | |
| rs538081227 | 633 | Y>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1049658753 | 633 | Y>C | No |
TOPMed gnomAD |
|
| rs1049658753 | 633 | Y>S | No |
TOPMed gnomAD |
|
| rs746090112 | 634 | A>G | No |
ExAC gnomAD |
|
|
COSM992927 rs756418657 COSM1589884 |
634 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs2147684122 | 635 | L>F | No | Ensembl | |
| rs781265732 | 636 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs757311496 | 638 | L>M | No |
ExAC gnomAD |
|
| rs2147684110 | 638 | L>Q | No | Ensembl | |
| rs2147683308 | 639 | E>* | No | Ensembl | |
| rs1338485712 | 639 | E>D | No | gnomAD | |
| rs2147683303 | 639 | E>G | No | Ensembl | |
| rs2147683308 | 639 | E>Q | No | Ensembl | |
| rs2147683303 | 639 | E>V | No | Ensembl | |
| rs2147683285 | 640 | D>E | No | Ensembl | |
| rs774135817 | 640 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs774135817 | 640 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs774135817 | 640 | D>Y | No |
ExAC TOPMed gnomAD |
|
|
COSM3989801 COSM3989802 |
641 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2147683280 | 641 | K>I | No | Ensembl | |
| rs2147683275 | 641 | K>N | No | Ensembl | |
| rs2147683280 | 641 | K>R | No | Ensembl | |
| rs2147683280 | 641 | K>T | No | Ensembl | |
| rs200641855 | 642 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs1435749725 | 642 | G>C | No |
TOPMed gnomAD |
|
| rs200641855 | 642 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs1435749725 | 642 | G>S | No |
TOPMed gnomAD |
|
| rs200641855 | 642 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs551049932 | 643 | L>M | No | Ensembl | |
| rs2147683245 | 643 | L>Q | No | Ensembl | |
| rs1354716418 | 644 | P>L | No | gnomAD | |
| rs2147683237 | 644 | P>S | No | Ensembl | |
| rs2147683216 | 645 | H>Q | No | Ensembl | |
| rs2147683208 | 646 | G>A | No | Ensembl | |
| rs771020913 | 646 | G>C | No |
ExAC gnomAD |
|
| rs2147683208 | 646 | G>D | No | Ensembl | |
| rs771020913 | 646 | G>R | No |
ExAC gnomAD |
|
| rs771020913 | 646 | G>S | No |
ExAC gnomAD |
|
| rs2147683208 | 646 | G>V | No | Ensembl | |
| rs2147683200 | 647 | N>I | No | Ensembl | |
| rs2147683198 | 647 | N>K | No | Ensembl | |
| rs2147683205 | 647 | N>Y | No | Ensembl | |
| rs2147683193 | 648 | V>A | No | Ensembl | |
| rs2147683193 | 648 | V>D | No | Ensembl | |
| rs2147683194 | 648 | V>L | No | Ensembl | |
| rs1473941428 | 649 | S>F | No | gnomAD | |
| TCGA novel | 649 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1367102986 | 650 | A>G | No | gnomAD | |
| rs2147683177 | 650 | A>P | No | Ensembl | |
| rs2147683177 | 650 | A>S | No | Ensembl | |
| rs2147683177 | 650 | A>T | No | Ensembl | |
| rs1367102986 | 650 | A>V | No | gnomAD | |
| rs747131454 | 651 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1465717926 | 651 | R>L | No | gnomAD | |
| rs1465717926 | 651 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs747131454 | 651 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2147683152 | 652 | K>* | No | Ensembl | |
| rs2147683152 | 652 | K>E | No | Ensembl | |
| rs2147683147 | 652 | K>M | No | Ensembl | |
| rs575945412 | 652 | K>N | No |
TOPMed gnomAD |
|
| rs2147683147 | 652 | K>R | No | Ensembl | |
| rs931371312 | 653 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs931371312 | 653 | V>E | No |
TOPMed gnomAD |
|
| rs931371312 | 653 | V>G | No |
TOPMed gnomAD |
|
| rs2147683131 | 653 | V>L | No | Ensembl | |
| rs1599870872 | 654 | L>F | No | Ensembl | |
| rs1199967941 | 654 | L>H | No | gnomAD | |
| rs1199967941 | 654 | L>P | No | gnomAD | |
| rs1599870872 | 654 | L>V | No | Ensembl | |
| rs1288990566 | 655 | L>P | No | TOPMed | |
| rs1288990566 | 655 | L>Q | No | TOPMed | |
| rs1290770952 | 656 | A>P | No |
TOPMed gnomAD |
|
| rs1290770952 | 656 | A>S | No |
TOPMed gnomAD |
|
| rs1290770952 | 656 | A>T | No |
TOPMed gnomAD |
|
| rs1568403015 | 657 | R>G | No | Ensembl | |
| rs758959409 | 657 | R>L | No |
ExAC gnomAD |
|
| rs758959409 | 657 | R>P | No |
ExAC gnomAD |
|
| rs2094221836 | 658 | E>* | No | TOPMed | |
| rs1568403009 | 658 | E>D | No | Ensembl | |
| rs2094221836 | 658 | E>K | No | TOPMed | |
| rs2094221836 | 658 | E>Q | No | TOPMed | |
| rs2147683058 | 659 | G>V | No | Ensembl | |
| rs2147683046 | 660 | A>P | No | Ensembl | |
| rs2147683046 | 660 | A>S | No | Ensembl | |
| rs2147683046 | 660 | A>T | No | Ensembl | |
| rs1277683485 | 660 | A>V | No | gnomAD | |
| rs2147683009 | 661 | D>E | No | Ensembl | |
| rs2147683014 | 661 | D>G | No | Ensembl | |
| rs2147683023 | 661 | D>H | No | Ensembl | |
| rs2147683023 | 661 | D>N | No | Ensembl | |
| rs2147683014 | 661 | D>V | No | Ensembl | |
| rs2147683023 | 661 | D>Y | No | Ensembl | |
| rs201417941 | 662 | G>A | No |
ExAC gnomAD |
|
| rs201417941 | 662 | G>E | No |
ExAC gnomAD |
|
| rs2147683004 | 662 | G>R | No | Ensembl | |
| rs2147683004 | 662 | G>W | No | Ensembl | |
| rs2147682995 | 663 | S>C | No | Ensembl | |
| rs2147682995 | 663 | S>G | No | Ensembl | |
| rs755322204 | 663 | S>I | No |
ExAC gnomAD |
|
| rs755322204 | 663 | S>N | No |
ExAC gnomAD |
|
| rs755322204 | 663 | S>T | No |
ExAC gnomAD |
|
| rs575352564 | 664 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs373027121 | 664 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs575352564 | 664 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2147682978 | 665 | P>A | No | Ensembl | |
| rs2147682973 | 665 | P>H | No | Ensembl | |
| rs2147682973 | 665 | P>L | No | Ensembl | |
| rs2147682978 | 665 | P>S | No | Ensembl | |
| rs2147682948 | 666 | F>L | No | Ensembl | |
| rs2147682952 | 666 | F>S | No | Ensembl | |
| rs2147682952 | 666 | F>Y | No | Ensembl | |
| rs2147682945 | 667 | I>F | No | Ensembl | |
| rs2147682937 | 667 | I>M | No | Ensembl | |
| rs2147682941 | 667 | I>N | No | Ensembl | |
| rs2147682924 | 668 | K>* | No | Ensembl | |
| rs1484453555 | 668 | K>N | No | TOPMed | |
| rs2147682920 | 668 | K>R | No | Ensembl | |
| rs767151572 | 669 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs2147682898 | 669 | L>P | No | Ensembl | |
| rs2147682898 | 669 | L>Q | No | Ensembl | |
| rs767151572 | 669 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs2147682884 | 670 | S>C | No | Ensembl | |
| rs2147682884 | 670 | S>G | No | Ensembl | |
| rs2147682874 | 670 | S>R | No | Ensembl | |
| rs2147682879 | 670 | S>T | No | Ensembl | |
| rs2147682864 | 671 | D>E | No | Ensembl | |
| rs2147682867 | 671 | D>G | No | Ensembl | |
| rs2147682867 | 671 | D>V | No | Ensembl | |
| rs2147682858 | 672 | P>A | No | Ensembl | |
| rs2147682854 | 672 | P>H | No | Ensembl | |
| rs2147682854 | 672 | P>R | No | Ensembl | |
| rs2147682858 | 672 | P>S | No | Ensembl | |
| rs2147682858 | 672 | P>T | No | Ensembl | |
| rs774183456 | 673 | G>A | No |
ExAC gnomAD |
|
| rs774183456 | 673 | G>E | No |
ExAC gnomAD |
|
| rs2147682844 | 673 | G>R | No | Ensembl | |
|
COSM327317 rs2147682831 |
674 | V>A | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
|
rs2147682834 COSM1737948 |
674 | V>F | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2147682834 | 674 | V>L | No | Ensembl | |
| rs2147682819 | 675 | S>C | No | Ensembl | |
| rs2147682819 | 675 | S>G | No | Ensembl | |
| rs2147682813 | 675 | S>N | No | Ensembl | |
| rs2147682819 | 675 | S>R | No | Ensembl | |
| rs2147682813 | 675 | S>T | No | Ensembl | |
| rs2094221720 | 676 | P>A | No | TOPMed | |
| rs2147682805 | 676 | P>L | No | Ensembl | |
| rs2147682805 | 676 | P>R | No | Ensembl | |
| rs2094221720 | 676 | P>S | No | TOPMed | |
| rs2094221720 | 676 | P>T | No | TOPMed | |
| rs201000040 | 677 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs201000040 | 677 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs201000040 | 677 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2147682781 | 678 | V>A | No | Ensembl | |
| rs2147682781 | 678 | V>G | No | Ensembl | |
|
rs2147682786 COSM1737949 |
678 | V>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2147682761 | 679 | L>* | No | Ensembl | |
| rs2147682770 | 679 | L>I | No | Ensembl | |
|
COSM4400989 COSM4400990 |
679 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs774939869 | 680 | S>C | No | gnomAD | |
| rs2147682747 | 680 | S>R | No | Ensembl | |
| rs774939869 | 680 | S>R | No | gnomAD | |
| rs1247385760 | 680 | S>T | No | gnomAD | |
| rs2147682743 | 681 | L>M | No | Ensembl | |
| rs747076404 | 681 | L>P | No |
ExAC gnomAD |
|
| rs747076404 | 681 | L>Q | No |
ExAC gnomAD |
|
| rs2147682743 | 681 | L>V | No | Ensembl | |
| rs1568402956 | 682 | E>* | No | Ensembl | |
|
COSM1391561 rs2094221650 COSM1391560 |
682 | E>D | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs1568402956 | 682 | E>K | No | Ensembl | |
| rs1568402956 | 682 | E>Q | No | Ensembl | |
| rs1326000645 | 683 | M>I | No |
TOPMed gnomAD |
|
| rs1450054520 | 683 | M>L | No | gnomAD | |
| rs2147682522 | 685 | T>I | No | Ensembl | |
| rs2094221475 | 685 | T>P | No | Ensembl | |
| rs2147682509 | 686 | D>A | No | Ensembl | |
| rs750102955 | 686 | D>H | No |
ExAC gnomAD |
|
| rs750102955 | 686 | D>N | No |
ExAC gnomAD |
|
| rs750102955 | 686 | D>Y | No |
ExAC gnomAD |
|
|
COSM1148108 COSM711177 |
687 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs35785705 | 688 | I>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2094221436 | 688 | I>N | No | TOPMed | |
| rs2147682486 | 690 | W>C | No | Ensembl | |
| rs2147682488 | 690 | W>L | No | Ensembl | |
| rs1599870643 | 691 | V>G | No | Ensembl | |
| rs2147682482 | 691 | V>M | No | Ensembl | |
| rs2094221407 | 692 | A>G | No | Ensembl | |
| rs2147682471 | 692 | A>P | No | Ensembl | |
| rs2147682471 | 692 | A>T | No | Ensembl | |
| rs2094221407 | 692 | A>V | No | Ensembl | |
| rs2147682461 | 693 | P>R | No | Ensembl | |
| rs2094221392 | 693 | P>S | No | TOPMed | |
| rs2147682454 | 694 | E>G | No | Ensembl | |
| rs1009464631 | 694 | E>K | No | TOPMed | |
| rs2147682454 | 694 | E>V | No | Ensembl | |
| rs2147682448 | 695 | C>G | No | Ensembl | |
| rs1203686982 | 695 | C>Y | No | gnomAD | |
| rs201838318 | 697 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs200849846 | 697 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs2094221343 | 698 | E>D | No |
TOPMed gnomAD |
|
| rs1454093124 | 698 | E>G | No |
TOPMed gnomAD |
|
| rs1454093124 | 698 | E>V | No |
TOPMed gnomAD |
|
|
rs201784993 COSM3729104 COSM3729103 |
699 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1411300829 | 700 | Q>H | No | gnomAD | |
|
rs2147682405 TCGA novel |
700 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1352670319 | 701 | T>S | No | gnomAD | |
| rs2147682389 | 703 | S>R | No | Ensembl | |
|
COSM3970819 COSM3970818 |
706 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2147682388 | 706 | A>V | No | Ensembl | |
| rs1469128743 | 707 | D>E | No | gnomAD | |
| rs2094221275 | 707 | D>H | No | Ensembl | |
| rs1391553011 | 708 | K>M | No |
TOPMed gnomAD |
|
| rs748216175 | 709 | W>G | No |
ExAC TOPMed gnomAD |
|
| rs2147682361 | 710 | G>A | No | Ensembl | |
| rs961989934 | 710 | G>S | No | TOPMed | |
|
rs2147682361 COSM389276 |
710 | G>V | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs200726812 | 711 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2147682348 | 712 | G>D | No | Ensembl | |
| rs199774111 | 713 | A>S | No | gnomAD | |
| rs199774111 | 713 | A>T | No | gnomAD | |
| rs140655992 | 714 | T>M | No |
ESP ExAC gnomAD |
|
| rs2147682332 | 714 | T>S | No | Ensembl | |
| rs2147682323 | 715 | V>D | No | Ensembl | |
| rs1057520020 | 715 | V>F | No | Ensembl | |
| rs2147682314 | 716 | W>L | No | Ensembl | |
| rs780502027 | 716 | W>R | No |
ExAC gnomAD |
|
| rs905946477 | 720 | S>C | No |
1000Genomes TOPMed gnomAD |
|
| rs905946477 | 720 | S>G | No |
1000Genomes TOPMed gnomAD |
|
| rs2094221168 | 721 | G>D | No | Ensembl | |
| rs3213409 | 722 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2094221129 | 723 | T>I | No | Ensembl | |
| rs2094221124 | 725 | P>H | No |
TOPMed gnomAD |
|
|
COSM3098993 rs2147682279 COSM3098994 |
725 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
|
rs1268243456 COSM5991494 |
727 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
TCGA novel rs2147682257 |
728 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs373418967 | 729 | L>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs373418967 | 729 | L>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs2147682239 | 730 | D>H | No | Ensembl | |
| rs2147682239 | 730 | D>Y | No | Ensembl | |
| TCGA novel | 731 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs201236217 | 731 | P>S | No | Ensembl | |
| rs868160942 | 732 | A>P | No | Ensembl | |
| rs868160942 | 732 | A>S | No | Ensembl | |
| rs868160942 | 732 | A>T | No | Ensembl | |
| rs2147681881 | 734 | K>N | No | Ensembl | |
| rs761877136 | 735 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs2147681873 | 735 | L>H | No | Ensembl | |
| rs761877136 | 735 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs2147681861 | 736 | Q>* | No | Ensembl | |
| rs2147681861 | 736 | Q>E | No | Ensembl | |
| rs201247156 | 736 | Q>H | No |
TOPMed gnomAD |
|
| rs2147681861 | 736 | Q>K | No | Ensembl | |
| rs2147681858 | 736 | Q>L | No | Ensembl | |
| rs2147681853 | 737 | F>S | No | Ensembl | |
| rs2147681844 | 738 | Y>* | No | Ensembl | |
| rs2147681848 | 738 | Y>N | No | Ensembl | |
| rs2147681831 | 739 | E>D | No | Ensembl | |
| rs2147681839 | 739 | E>G | No | Ensembl | |
| rs2147681839 | 739 | E>V | No | Ensembl | |
| rs2094220711 | 740 | D>A | No | TOPMed | |
| rs2094220711 | 740 | D>G | No | TOPMed | |
| rs2147681827 | 740 | D>H | No | Ensembl | |
| rs2094220711 | 740 | D>V | No | TOPMed | |
| rs2147681827 | 740 | D>Y | No | Ensembl | |
| rs1210023814 | 741 | R>G | No |
TOPMed gnomAD |
|
| rs1210023814 | 741 | R>W | No |
TOPMed gnomAD |
|
|
COSM1564627 rs2147681805 COSM1564626 |
742 | Q>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2147681805 | 742 | Q>E | No | Ensembl | |
| rs1220704286 | 742 | Q>H | No | gnomAD | |
| rs201652110 | 742 | Q>L | No |
ExAC gnomAD |
|
| rs201652110 | 742 | Q>R | No |
ExAC gnomAD |
|
| rs2147681790 | 743 | Q>* | No | Ensembl | |
| rs2147681790 | 743 | Q>E | No | Ensembl | |
| rs2147681782 | 743 | Q>H | No | Ensembl | |
| rs2147681790 | 743 | Q>K | No | Ensembl | |
| rs2147681785 | 743 | Q>L | No | Ensembl | |
| rs2147681785 | 743 | Q>P | No | Ensembl | |
| rs2147681775 | 744 | L>P | No | Ensembl | |
| rs2147681775 | 744 | L>Q | No | Ensembl | |
| rs544257390 | 744 | L>V | No |
1000Genomes ExAC gnomAD |
|
| rs2147681765 | 745 | P>A | No | Ensembl | |
| rs776106625 | 745 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs776106625 | 745 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs2147681765 | 745 | P>S | No | Ensembl | |
| rs2094220656 | 746 | A>G | No |
TOPMed gnomAD |
|
| rs2147681750 | 746 | A>P | No | Ensembl | |
| rs2147681750 | 746 | A>S | No | Ensembl | |
| rs2147681750 | 746 | A>T | No | Ensembl | |
| rs2147681736 | 747 | P>A | No | Ensembl | |
|
rs2147681731 COSM474344 COSM1136133 |
747 | P>H | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2147681731 | 747 | P>L | No | Ensembl | |
| rs2147681736 | 747 | P>S | No | Ensembl | |
| rs2147681723 | 748 | K>N | No | Ensembl | |
| rs759965964 | 748 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs2147681714 | 749 | W>* | No | Ensembl | |
| rs2147681709 | 749 | W>C | No | Ensembl | |
| rs1307862743 | 749 | W>G | No | gnomAD | |
| rs1307862743 | 749 | W>R | No | gnomAD | |
| rs2147681714 | 749 | W>S | No | Ensembl | |
| rs777077314 | 750 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs2147681704 | 750 | T>I | No | Ensembl | |
| rs2147681704 | 750 | T>R | No | Ensembl | |
| rs2147681696 | 751 | E>D | No | Ensembl | |
| rs2094220629 | 751 | E>K | No | TOPMed | |
| rs2094220629 | 751 | E>Q | No | TOPMed | |
| rs746595103 | 752 | L>P | No |
ExAC gnomAD |
|
| rs746595103 | 752 | L>Q | No |
ExAC gnomAD |
|
| rs746595103 | 752 | L>R | No |
ExAC gnomAD |
|
| rs200123352 | 752 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs2147681684 | 753 | A>S | No | Ensembl | |
| rs2147681671 | 754 | L>P | No | 1000Genomes | |
| rs2147681671 | 754 | L>Q | No | 1000Genomes | |
| rs2147681661 | 755 | L>M | No | Ensembl | |
| rs1451314706 | 755 | L>P | No |
TOPMed gnomAD |
|
| rs1451314706 | 755 | L>Q | No |
TOPMed gnomAD |
|
| rs2147681661 | 755 | L>V | No | Ensembl | |
| rs2147681645 | 756 | I>F | No | Ensembl | |
| rs2147681642 | 756 | I>N | No | Ensembl | |
| rs2147681642 | 756 | I>S | No | Ensembl | |
| rs2147681645 | 756 | I>V | No | Ensembl | |
|
rs1568402703 TCGA novel |
757 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1568402703 | 757 | Q>E | No | gnomAD | |
| rs975951481 | 757 | Q>H | No | Ensembl | |
| rs2147681630 | 757 | Q>L | No | Ensembl | |
| rs2147681630 | 757 | Q>R | No | Ensembl | |
| rs2147681619 | 758 | Q>* | No | Ensembl | |
| rs2147681619 | 758 | Q>E | No | Ensembl | |
| rs2147681608 | 758 | Q>H | No | Ensembl | |
| rs2147681619 | 758 | Q>K | No | Ensembl | |
| rs2147681618 | 758 | Q>L | No | Ensembl | |
| rs2147681603 | 759 | C>G | No | Ensembl | |
| rs2147681603 | 759 | C>S | No | Ensembl | |
| rs2094220561 | 759 | C>Y | No |
TOPMed gnomAD |
|
| rs1370953717 | 760 | M>I | No | gnomAD | |
| rs1297428679 | 760 | M>K | No | TOPMed | |
| rs747724153 | 760 | M>L | No |
ExAC gnomAD |
|
| rs1297428679 | 760 | M>R | No | TOPMed | |
| rs1297428679 | 760 | M>T | No | TOPMed | |
| rs747724153 | 760 | M>V | No |
ExAC gnomAD |
|
| rs2147681585 | 761 | A>P | No | Ensembl | |
| rs2147681585 | 761 | A>S | No | Ensembl | |
| rs2147681585 | 761 | A>T | No | Ensembl | |
| rs2094220538 | 762 | Y>* | No | gnomAD | |
| rs778812304 | 762 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs778812304 | 762 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs778812304 | 762 | Y>S | No |
ExAC TOPMed gnomAD |
|
| rs2147681547 | 763 | E>D | No | Ensembl | |
| rs2147681555 | 763 | E>G | No | Ensembl | |
| rs2147681559 | 763 | E>K | No | Ensembl | |
| rs2147681559 | 763 | E>Q | No | Ensembl | |
| rs2147681555 | 763 | E>V | No | Ensembl | |
| rs1460436138 | 764 | P>A | No |
TOPMed gnomAD |
|
| rs149982493 | 764 | P>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs149982493 | 764 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1460436138 | 764 | P>S | No |
TOPMed gnomAD |
|
| rs2147681520 | 765 | V>A | No | Ensembl | |
| rs2147681520 | 765 | V>D | No | Ensembl | |
| rs2147681520 | 765 | V>G | No | Ensembl | |
| rs2147681523 | 765 | V>I | No | Ensembl | |
| rs2147681523 | 765 | V>L | No | Ensembl | |
| rs2147681508 | 766 | Q>* | No | Ensembl | |
| rs2147681502 | 766 | Q>H | No | Ensembl | |
| rs2147681508 | 766 | Q>K | No | Ensembl | |
| rs2094220501 | 766 | Q>R | No | TOPMed | |
| rs2147681498 | 767 | R>G | No | Ensembl | |
| rs2147681490 | 767 | R>S | No | Ensembl | |
| rs2147681498 | 767 | R>W | No | Ensembl | |
| rs755956210 | 768 | P>L | No |
ExAC gnomAD |
|
| rs755956210 | 768 | P>R | No |
ExAC gnomAD |
|
| rs2147681486 | 768 | P>S | No | Ensembl | |
| rs2147681470 | 769 | S>P | No | Ensembl | |
| rs2147681470 | 769 | S>T | No | Ensembl | |
| rs2147681461 | 770 | F>L | No | Ensembl | |
| rs1198251679 | 771 | R>G | No |
TOPMed gnomAD |
|
| rs1490273737 | 771 | R>P | No |
TOPMed gnomAD |
|
| rs1490273737 | 771 | R>Q | No |
TOPMed gnomAD |
|
| rs2147681430 | 772 | A>D | No | Ensembl | |
| rs2147681430 | 772 | A>G | No | Ensembl | |
| rs2147681435 | 772 | A>P | No | Ensembl | |
| rs2147681435 | 772 | A>T | No | Ensembl | |
| rs2147681430 | 772 | A>V | No | Ensembl | |
| rs2094220454 | 773 | V>A | No | Ensembl | |
| rs2094220454 | 773 | V>D | No | Ensembl | |
| rs2094220454 | 773 | V>G | No | Ensembl | |
| rs201531563 | 773 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2147681384 | 774 | I>F | No | Ensembl | |
| rs2147681384 | 774 | I>L | No | Ensembl | |
| rs2147681380 | 774 | I>T | No | Ensembl | |
| rs200624610 | 775 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs1251299279 | 775 | R>P | No | gnomAD | |
| rs2147681363 | 776 | D>A | No | Ensembl | |
| rs2147681358 | 776 | D>E | No | Ensembl | |
| rs2147681366 | 776 | D>H | No | Ensembl | |
| rs2147681366 | 776 | D>N | No | Ensembl | |
| rs2147681363 | 776 | D>V | No | Ensembl | |
| rs2094220428 | 777 | L>F | No | Ensembl | |
| rs2094220419 | 777 | L>H | No | TOPMed | |
| rs2094220419 | 777 | L>P | No | TOPMed | |
| rs2094220428 | 777 | L>V | No | Ensembl | |
| rs2094220411 | 778 | N>D | No | gnomAD | |
| rs199861157 | 778 | N>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs199861157 | 778 | N>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2094220411 | 778 | N>Y | No | gnomAD | |
| rs2147681334 | 779 | S>C | No | Ensembl | |
| rs2147681328 | 779 | S>R | No | Ensembl | |
| rs2147681325 | 780 | L>F | No | Ensembl | |
| rs2147681318 | 780 | L>H | No | Ensembl | |
| rs2147681325 | 780 | L>I | No | Ensembl | |
| rs2147681318 | 780 | L>P | No | Ensembl | |
| rs2147681309 | 781 | I>F | No | Ensembl | |
| rs2147681309 | 781 | I>L | No | Ensembl | |
| rs2094220388 | 781 | I>M | No | TOPMed | |
| rs2147681305 | 781 | I>N | No | Ensembl | |
| rs377654680 | 782 | S>C | No | Ensembl | |
| rs377654680 | 782 | S>F | No | Ensembl | |
| rs2147681300 | 782 | S>P | No | Ensembl | |
| rs912810655 | 783 | S>* | No |
TOPMed gnomAD |
|
| rs912810655 | 783 | S>L | No |
TOPMed gnomAD |
|
| rs2147681294 | 783 | S>T | No | Ensembl | |
| rs760051760 | 784 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs760051760 | 784 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs760051760 | 784 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs2094217105 | 785 | Y>C | No | TOPMed | |
| rs1242102906 | 785 | Y>H | No |
TOPMed gnomAD |
|
| rs2094217105 | 785 | Y>S | No | TOPMed | |
| rs2147679234 | 786 | E>A | No | Ensembl | |
| rs2147679218 | 787 | L>F | No | Ensembl | |
| rs2147679213 | 787 | L>H | No | Ensembl | |
| rs2147679193 | 789 | S>L | No | Ensembl | |
|
rs2094217088 COSM303863 |
789 | S>P | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2147679182 | 790 | D>A | No | Ensembl | |
| rs2094217086 | 790 | D>E | No | TOPMed | |
| rs2147679189 | 790 | D>H | No | Ensembl | |
| rs147898549 | 791 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs147898549 | 791 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs935305331 | 794 | G>A | No | TOPMed | |
| rs2147679162 | 794 | G>S | No | Ensembl | |
| rs2147679147 | 795 | A>S | No | Ensembl | |
| rs2147679139 | 795 | A>V | No | Ensembl | |
| rs2147679116 | 797 | A>T | No | Ensembl | |
| rs1463023314 | 798 | P>A | No |
TOPMed gnomAD |
|
| rs202211629 | 798 | P>L | No | Ensembl | |
| rs201241352 | 799 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs922048523 | 799 | R>H | No |
TOPMed gnomAD |
|
| rs2147679087 | 800 | D>H | No | Ensembl | |
| rs766976489 | 801 | G>W | No | ExAC | |
| rs2147679062 | 804 | N>I | No | Ensembl | |
| rs1568402015 | 805 | G>S | No | Ensembl | |
| rs2094216979 | 806 | A>T | No | Ensembl | |
| rs2094216972 | 806 | A>V | No | Ensembl | |
| rs2094216961 | 807 | Q>* | No | Ensembl | |
| rs2094216954 | 807 | Q>H | No | Ensembl | |
| rs767782114 | 808 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs767782114 | 808 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs200149050 | 809 | Y>C | No |
TOPMed gnomAD |
|
| rs2147679001 | 811 | C>Y | No | Ensembl | |
| rs1333393513 | 812 | Q>P | No | TOPMed | |
| rs2147678983 | 813 | D>H | No | Ensembl | |
|
COSM4075495 COSM4075496 |
813 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs912109966 | 813 | D>V | No |
TOPMed gnomAD |
|
|
COSM1630765 COSM1630766 rs1448703692 |
814 | P>S | liver [Cosmic] | No |
cosmic curated TOPMed |
| rs200579386 | 815 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2147678950 | 815 | T>P | No | Ensembl | |
| rs200579386 | 815 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs374191135 | 818 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs2147678917 | 819 | E>Q | No | Ensembl | |
| rs2147678908 | 820 | R>S | No | Ensembl | |
| rs2147678912 | 820 | R>T | No | Ensembl | |
| rs1342238918 | 821 | H>Y | No |
TOPMed gnomAD |
|
| rs1722865224 | 822 | L>F | No | gnomAD | |
| rs796256556 | 822 | L>H | No | Ensembl | |
| rs1722865224 | 822 | L>I | No | gnomAD | |
| rs951065354 | 823 | K>R | No |
TOPMed gnomAD |
|
| rs2147678878 | 824 | Y>N | No | Ensembl | |
| rs141854954 | 825 | I>L | No | Ensembl | |
|
COSM4941132 rs2147678860 COSM4941131 |
826 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2094216809 | 826 | S>P | No |
TOPMed gnomAD |
|
| rs2094216809 | 826 | S>T | No |
TOPMed gnomAD |
|
| rs144683649 | 827 | Q>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2147678837 | 829 | G>A | No | Ensembl | |
| rs2094216563 | 831 | G>R | No | TOPMed | |
| rs2094216563 | 831 | G>S | No | TOPMed | |
| rs2147678548 | 831 | G>V | No | Ensembl | |
| rs2147678543 | 832 | N>I | No | Ensembl | |
| rs1320568386 | 833 | F>C | No |
TOPMed gnomAD |
|
| rs2147678527 | 834 | G>D | No | Ensembl | |
| rs2094216547 | 834 | G>S | No | TOPMed | |
| rs201199096 | 835 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2094216535 | 835 | S>T | No | gnomAD | |
| rs762217828 | 836 | V>L | No |
ExAC gnomAD |
|
| rs762217828 | 836 | V>M | No |
ExAC gnomAD |
|
| rs2147678487 | 837 | E>V | No | Ensembl | |
| rs2147678476 | 839 | C>S | No | Ensembl | |
| rs2094216512 | 839 | C>S | No | Ensembl | |
| rs140837014 | 840 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs2094216477 | 843 | P>L | No | Ensembl | |
| rs2147678441 | 843 | P>T | No | Ensembl | |
| rs1052526 | 846 | D>H | No |
ExAC gnomAD |
|
|
COSM565396 rs1052526 COSM1649442 |
846 | D>N | lung skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1052526 | 846 | D>Y | No |
ExAC gnomAD |
|
| rs1184841775 | 847 | N>D | No | gnomAD | |
| rs2147678397 | 848 | T>I | No | Ensembl | |
| rs776453410 | 849 | G>D | No |
ExAC gnomAD |
|
| rs2094216429 | 850 | A>T | No | TOPMed | |
| rs199973041 | 850 | A>V | No |
TOPMed gnomAD |
|
| rs770825375 | 851 | L>P | No |
ExAC gnomAD |
|
| rs2147678380 | 853 | A>S | No | Ensembl | |
| rs2147678380 | 853 | A>T | No | Ensembl | |
| rs2147678368 | 854 | V>E | No | Ensembl | |
| rs370332355 | 854 | V>M | No |
ESP ExAC TOPMed |
|
| rs2147678360 | 856 | Q>H | No | Ensembl | |
|
rs768942227 COSM4775086 COSM1666992 |
857 | L>P | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs933201496 | 858 | Q>* | No | Ensembl | |
| rs2147678345 | 859 | H>Y | No | Ensembl | |
| rs2147678335 | 860 | S>N | No | Ensembl | |
| rs201157971 | 860 | S>R | No |
1000Genomes TOPMed gnomAD |
|
| rs1309162839 | 860 | S>R | No | gnomAD | |
| rs2147678321 | 861 | G>A | No | Ensembl | |
| rs2147678317 | 862 | P>S | No | Ensembl | |
| rs2147678313 | 863 | D>Y | No | Ensembl | |
| rs2147678304 | 864 | Q>E | No | Ensembl | |
| rs1388042227 | 864 | Q>R | No | Ensembl | |
|
COSM1589886 COSM992921 |
866 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1213477299 | 867 | D>N | No | gnomAD | |
| rs1213477299 | 867 | D>Y | No | gnomAD | |
| rs1490675545 | 869 | Q>* | No |
TOPMed gnomAD |
|
| rs1490675545 | 869 | Q>E | No |
TOPMed gnomAD |
|
| rs900551845 | 869 | Q>R | No | TOPMed | |
| rs200198236 | 870 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs376945173 | 870 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200198236 | 870 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs201643826 | 871 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs2094216316 | 873 | Q>E | No | Ensembl | |
| rs183921981 | 873 | Q>L | No |
1000Genomes ExAC |
|
| rs1443453130 | 876 | K>E | No | gnomAD | |
| rs372947852 | 876 | K>R | No |
ESP ExAC gnomAD |
|
| rs201869359 | 877 | A>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs2147678217 | 877 | A>P | No | Ensembl | |
| rs3179893 | 879 | H>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2147678182 | 880 | S>T | No | Ensembl | |
| rs764752669 | 883 | I>M | No |
ExAC gnomAD |
|
| rs1428917753 | 886 | Y>C | No | gnomAD | |
| rs759015510 | 887 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs759015510 | 887 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1231041364 | 888 | G>R | No |
TOPMed gnomAD |
|
| rs2147678131 | 890 | S>I | No | Ensembl | |
| rs144195765 | 890 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2094216186 | 892 | G>D | No | TOPMed | |
| rs772027199 | 893 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs2147677176 | 894 | G>A | No | Ensembl | |
| rs2147677176 | 894 | G>D | No | Ensembl | |
| rs2147677165 | 895 | R>C | No | Ensembl | |
| rs2147677165 | 895 | R>G | No | Ensembl | |
|
rs773307996 COSM5741497 COSM5741498 |
895 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC gnomAD |
| rs773307996 | 895 | R>L | No |
ExAC gnomAD |
|
| rs773307996 | 895 | R>P | No |
ExAC gnomAD |
|
| rs2147677151 | 896 | Q>* | No | Ensembl | |
| rs2147677145 | 896 | Q>H | No | Ensembl | |
| rs369202325 | 896 | Q>L | No | Ensembl | |
| rs369202325 | 896 | Q>R | No | Ensembl | |
| rs767325927 | 897 | S>C | No |
ExAC gnomAD |
|
| rs767325927 | 897 | S>G | No |
ExAC gnomAD |
|
| rs1425135866 | 897 | S>I | No | gnomAD | |
| rs1425135866 | 897 | S>N | No | gnomAD | |
| rs2147677136 | 897 | S>R | No | Ensembl | |
| rs1425135866 | 897 | S>T | No | gnomAD | |
| rs2094215030 | 898 | L>P | No | Ensembl | |
| rs2094215030 | 898 | L>Q | No | Ensembl | |
| rs202043320 | 898 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs2147677107 | 899 | R>G | No | Ensembl | |
| rs1223468095 | 899 | R>Q | No |
TOPMed gnomAD |
|
|
COSM4821779 rs2147677107 COSM4821780 |
899 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1443426807 | 900 | L>V | No | gnomAD | |
| TCGA novel | 901 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2147677082 | 901 | V>F | No | Ensembl | |
| rs2147677082 | 901 | V>I | No | Ensembl | |
| rs2147677082 | 901 | V>L | No | Ensembl | |
| rs2147677065 | 902 | M>I | No | Ensembl | |
| rs2147677069 | 902 | M>K | No | Ensembl | |
| rs200855932 | 902 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs2147677053 | 903 | E>D | No | Ensembl | |
| rs2147677054 | 903 | E>G | No | Ensembl | |
| rs2147677058 | 903 | E>Q | No | Ensembl | |
| rs2147677054 | 903 | E>V | No | Ensembl | |
| rs1187805545 | 904 | Y>* | No |
TOPMed gnomAD |
|
| rs1599867618 | 904 | Y>C | No | Ensembl | |
| rs2147677050 | 904 | Y>D | No | Ensembl | |
| rs1599867618 | 904 | Y>F | No | Ensembl | |
| rs2147677050 | 904 | Y>N | No | Ensembl | |
| rs1599867618 | 904 | Y>S | No | Ensembl | |
| rs2147677030 | 905 | L>P | No | Ensembl | |
| rs2147677030 | 905 | L>Q | No | Ensembl | |
| rs2147677020 | 906 | P>A | No | Ensembl | |
| rs2147677016 | 906 | P>R | No | Ensembl | |
| rs1215516863 | 907 | S>R | No |
TOPMed gnomAD |
|
| rs1259843283 | 907 | S>R | No |
TOPMed gnomAD |
|
| rs2147676989 | 908 | G>A | No | Ensembl | |
| rs2147676989 | 908 | G>D | No | Ensembl | |
| rs2147676991 | 908 | G>R | No | Ensembl | |
| rs2147676991 | 908 | G>S | No | Ensembl | |
| rs2147676982 | 909 | C>S | No | Ensembl | |
| rs1568401542 | 909 | C>S | No | 1000Genomes | |
| rs2147676971 | 909 | C>W | No | Ensembl | |
| rs1568401542 | 909 | C>Y | No | 1000Genomes | |
| rs2147676958 | 910 | L>* | No | Ensembl | |
| rs1360627275 | 910 | L>F | No | gnomAD | |
| rs2147676960 | 910 | L>M | No | Ensembl | |
| rs587778417 | 911 | R>C | No | Ensembl | |
|
rs587778417 CA160240 RCV000121267 |
911 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs983583356 | 911 | R>H | No | Ensembl | |
| rs983583356 | 911 | R>L | No | Ensembl | |
| rs983583356 | 911 | R>P | No | Ensembl | |
| rs587778417 | 911 | R>S | No | Ensembl | |
| rs2147676928 | 912 | D>A | No | Ensembl | |
| rs2147676923 | 912 | D>E | No | Ensembl | |
| rs2147676928 | 912 | D>G | No | Ensembl | |
| rs2147676935 | 912 | D>H | No | Ensembl | |
|
COSM3530595 COSM3530594 rs2147676935 |
912 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2147676928 | 912 | D>V | No | Ensembl | |
| rs2147676915 | 913 | F>L | No | Ensembl | |
| rs2147676919 | 913 | F>Y | No | Ensembl | |
| rs2147676911 | 914 | L>P | No | Ensembl | |
| rs2147676911 | 914 | L>Q | No | Ensembl | |
| rs2147676896 | 915 | Q>* | No | Ensembl | |
| rs2147676896 | 915 | Q>E | No | Ensembl | |
| rs2094214928 | 915 | Q>H | No | TOPMed | |
| rs2147676892 | 915 | Q>L | No | Ensembl | |
| rs2147676892 | 915 | Q>R | No | Ensembl | |
| rs375807308 | 916 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs2147676876 | 916 | R>P | No | Ensembl | |
| rs2147676876 | 916 | R>Q | No | Ensembl | |
| rs375807308 | 916 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs2147676865 | 917 | H>D | No | Ensembl | |
| rs758757876 | 917 | H>L | No |
ExAC gnomAD |
|
| rs758757876 | 917 | H>P | No |
ExAC gnomAD |
|
| rs1717164928 | 917 | H>Q | No | TOPMed | |
| rs758757876 | 917 | H>R | No |
ExAC gnomAD |
|
| rs2147676865 | 917 | H>Y | No | Ensembl | |
| rs371883879 | 918 | R>C | No |
ESP ExAC gnomAD |
|
| rs371883879 | 918 | R>G | No |
ESP ExAC gnomAD |
|
| rs753577833 | 918 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs753577833 | 918 | R>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 918 | R>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs371883879 | 918 | R>S | No |
ESP ExAC gnomAD |
|
| rs767424476 | 919 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs750358689 | 919 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs750358689 | 919 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs750358689 | 919 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2147676812 | 920 | R>C | No | Ensembl | |
| rs2147676812 | 920 | R>G | No | Ensembl | |
| rs761651756 | 920 | R>H | No |
ExAC gnomAD |
|
| rs761651756 | 920 | R>L | No |
ExAC gnomAD |
|
| rs761651756 | 920 | R>P | No |
ExAC gnomAD |
|
| rs2147676792 | 921 | L>H | No | Ensembl | |
| rs2147676792 | 921 | L>P | No | Ensembl | |
| rs2147676781 | 922 | D>A | No | Ensembl | |
| rs2147676774 | 922 | D>E | No | Ensembl | |
| rs2147676781 | 922 | D>G | No | Ensembl | |
| rs2147676781 | 922 | D>V | No | Ensembl | |
| rs763951351 | 922 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs975773769 | 923 | A>D | No |
TOPMed gnomAD |
|
| rs975773769 | 923 | A>G | No |
TOPMed gnomAD |
|
| rs1426288505 | 923 | A>P | No | gnomAD | |
| rs1426288505 | 923 | A>S | No | gnomAD | |
| rs1426288505 | 923 | A>T | No | gnomAD | |
| rs975773769 | 923 | A>V | No |
TOPMed gnomAD |
|
| rs2147676763 | 924 | S>I | No | Ensembl | |
| rs2147676763 | 924 | S>N | No | Ensembl | |
| rs199939250 | 924 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs2147676763 | 924 | S>T | No | Ensembl | |
| rs1490602805 | 925 | R>H | No | gnomAD | |
| rs1490602805 | 925 | R>L | No | gnomAD | |
| rs1490602805 | 925 | R>P | No | gnomAD | |
| rs2147676730 | 926 | L>I | No | Ensembl | |
| rs2147676730 | 926 | L>V | No | Ensembl | |
| rs2147676723 | 927 | L>H | No | Ensembl | |
| rs2147676709 | 928 | L>H | No | Ensembl | |
| rs2147676716 | 928 | L>I | No | Ensembl | |
| rs2147676716 | 928 | L>V | No | Ensembl | |
| rs2147676699 | 929 | Y>F | No | Ensembl | |
| rs1220775430 | 929 | Y>H | No | gnomAD | |
| rs2147676699 | 929 | Y>S | No | Ensembl | |
| rs2147676687 | 930 | S>C | No | Ensembl | |
| rs2147676687 | 930 | S>F | No | Ensembl | |
| rs2147676692 | 930 | S>T | No | Ensembl | |
| rs2147676687 | 930 | S>Y | No | Ensembl | |
| rs1252474237 | 931 | S>* | No | gnomAD | |
| rs1252474237 | 931 | S>L | No | gnomAD | |
| rs2094214784 | 931 | S>P | No | gnomAD | |
| rs1252474237 | 931 | S>W | No | gnomAD | |
| rs773764725 | 932 | Q>* | No |
ExAC gnomAD |
|
| rs773764725 | 932 | Q>K | No |
ExAC gnomAD |
|
| rs2147676649 | 933 | I>M | No | Ensembl | |
| rs2147676656 | 933 | I>S | No | Ensembl | |
| rs2147676659 | 933 | I>V | No | Ensembl | |
| rs2147676647 | 934 | C>R | No | Ensembl | |
| rs2147676647 | 934 | C>S | No | Ensembl | |
| rs2147676642 | 934 | C>W | No | Ensembl | |
| rs2147676643 | 934 | C>Y | No | Ensembl | |
| rs772401691 | 935 | K>* | No |
ExAC gnomAD |
|
| rs772401691 | 935 | K>E | No |
ExAC gnomAD |
|
| rs2147676636 | 935 | K>M | No | Ensembl | |
| rs2147676629 | 935 | K>N | No | Ensembl | |
| rs2147676636 | 935 | K>R | No | Ensembl | |
| rs2094214260 | 937 | M>V | No |
TOPMed gnomAD |
|
| rs1403355661 | 938 | E>K | No |
TOPMed gnomAD |
|
| rs1175278463 | 939 | Y>* | No | gnomAD | |
|
COSM4131438 rs1568401351 |
939 | Y>S | thyroid [Cosmic] | No |
cosmic curated Ensembl |
| rs2147676049 | 942 | S>P | No | Ensembl | |
| rs760901179 | 943 | R>C | No |
ExAC gnomAD |
|
| rs2147676027 | 943 | R>H | No | Ensembl | |
| rs2147676027 | 943 | R>P | No | Ensembl | |
| rs1238513096 | 944 | R>C | No |
TOPMed gnomAD |
|
|
rs2147676011 COSM1211222 COSM1211221 |
944 | R>H | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2147676011 | 944 | R>P | No | Ensembl | |
|
COSM245101 rs1417829450 |
946 | V>M | Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs2147675999 | 947 | H>Y | No | Ensembl | |
|
COSM1579128 rs200202992 COSM123817 |
948 | R>C | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs200202992 | 948 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1462715334 | 948 | R>H | No | gnomAD | |
| rs951360037 | 949 | D>N | No | TOPMed | |
| rs2147675948 | 951 | A>T | No | Ensembl | |
| rs2147675943 | 951 | A>V | No | Ensembl | |
| rs762179562 | 952 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs762179562 | 952 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1200119249 | 953 | R>* | No | gnomAD | |
| rs2094214163 | 953 | R>L | No | Ensembl | |
| rs2094214163 | 953 | R>Q | No | Ensembl | |
|
COSM1325402 COSM1325401 |
955 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1236681448 | 957 | V>L | No | gnomAD | |
| rs1315646138 | 958 | E>D | No | gnomAD | |
| COSM1666993 | 958 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs749741343 | 958 | E>Q | No |
ExAC gnomAD |
|
| rs1178830491 | 959 | S>C | No | TOPMed | |
| rs2147675885 | 959 | S>I | No | Ensembl | |
| TCGA novel | 959 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2147675875 | 960 | E>* | No | Ensembl | |
| rs2147675875 | 960 | E>K | No | Ensembl | |
| TCGA novel | 962 | H>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779843346 | 962 | H>Q | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 962 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2147675866 | 962 | H>Y | No | Ensembl | |
| rs2147675844 | 963 | V>D | No | Ensembl | |
| rs2147675852 | 963 | V>I | No | Ensembl | |
| rs2094214113 | 964 | K>R | No | TOPMed | |
| rs957284774 | 966 | A>G | No | Ensembl | |
| rs1335623654 | 966 | A>S | No | gnomAD | |
| rs1335623654 | 966 | A>T | No | gnomAD | |
| rs2147675824 | 967 | D>A | No | Ensembl | |
| rs2147675824 | 967 | D>V | No | Ensembl | |
| rs2147675813 | 968 | F>L | No | Ensembl | |
| rs2147675807 | 969 | G>S | No | Ensembl | |
|
COSM1141573 COSM565397 rs2147675803 COSM6084222 COSM6084221 |
969 | G>V | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
| rs1568401276 | 971 | A>G | No | Ensembl | |
| rs745535201 | 975 | P>L | No |
ExAC gnomAD |
|
| rs745535201 | 975 | P>Q | No |
ExAC gnomAD |
|
| rs745535201 | 975 | P>R | No |
ExAC gnomAD |
|
| rs2147675775 | 975 | P>S | No | Ensembl | |
| rs1452171556 | 976 | L>H | No |
TOPMed gnomAD |
|
| rs780525165 | 977 | D>H | No | ExAC | |
| rs972129919 | 978 | K>R | No | TOPMed | |
| rs2147675740 | 980 | Y>F | No | Ensembl | |
| rs1446472008 | 981 | Y>* | No |
TOPMed gnomAD |
|
| rs1184767818 | 981 | Y>C | No | gnomAD | |
| rs1241398236 | 982 | V>A | No | gnomAD | |
| rs1186986948 | 984 | R>C | No | gnomAD | |
| rs1186986948 | 984 | R>G | No | gnomAD | |
| rs1447779921 | 984 | R>H | No |
TOPMed gnomAD |
|
| rs1447779921 | 984 | R>P | No |
TOPMed gnomAD |
|
| rs1203084402 | 985 | E>K | No |
TOPMed gnomAD |
|
| rs751427824 | 986 | P>A | No |
ExAC gnomAD |
|
| rs751427824 | 986 | P>S | No |
ExAC gnomAD |
|
| rs2147675689 | 987 | G>D | No | Ensembl | |
|
COSM4943045 rs2094214009 COSM4943046 |
987 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs2147675689 | 987 | G>V | No | Ensembl | |
| rs777804418 | 988 | Q>R | No |
ExAC gnomAD |
|
| rs1380543797 | 990 | P>S | No | gnomAD | |
| rs2094213980 | 991 | I>F | No | gnomAD | |
| rs2094213980 | 991 | I>V | No | gnomAD | |
| rs2094212167 | 993 | W>* | No | TOPMed | |
|
COSM3796786 COSM3796785 |
993 | W>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs765672110 | 994 | Y>H | No |
ExAC gnomAD |
|
| rs759983860 | 996 | P>L | No |
ExAC gnomAD |
|
| rs2094212146 | 1000 | S>L | No | Ensembl | |
| rs776141203 | 1001 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs776141203 | 1001 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs2094212119 | 1005 | S>C | No | Ensembl | |
| rs2147674622 | 1006 | R>C | No | Ensembl | |
| rs924389288 | 1006 | R>L | No | TOPMed | |
| rs924389288 | 1006 | R>P | No | TOPMed | |
| rs2147674606 | 1009 | D>H | No | Ensembl | |
| rs2094212078 | 1010 | V>D | No | Ensembl | |
| rs1443520204 | 1010 | V>I | No | gnomAD | |
| rs1443520204 | 1010 | V>L | No | gnomAD | |
| rs2147674585 | 1012 | S>G | No | Ensembl | |
|
COSM992918 COSM1589887 |
1012 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2147674578 | 1015 | V>L | No | Ensembl | |
| rs977080720 | 1016 | V>A | No | gnomAD | |
|
rs2147674572 COSM94557 |
1016 | V>I | breast [Cosmic] | No |
cosmic curated Ensembl |
| rs1465228206 | 1017 | L>V | No | gnomAD | |
| rs1407021823 | 1018 | Y>H | No | gnomAD | |
| rs1178869666 | 1020 | L>F | No | gnomAD | |
| TCGA novel | 1020 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2147674530 | 1025 | D>N | No | Ensembl | |
| rs552569607 | 1026 | K>E | No | 1000Genomes | |
| rs201009411 | 1027 | S>N | No |
TOPMed gnomAD |
|
| rs991784175 | 1028 | C>R | No | Ensembl | |
|
COSM3388724 COSM3388725 |
1030 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200615338 | 1030 | P>T | No | Ensembl | |
| rs749169776 | 1031 | S>L | No |
ExAC TOPMed gnomAD |
|
|
COSM4486721 COSM4486720 |
1032 | A>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2094211935 | 1032 | A>S | No | Ensembl | |
| TCGA novel | 1033 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1157866411 | 1034 | F>L | No |
TOPMed gnomAD |
|
| rs868813680 | 1036 | R>G | No | Ensembl | |
| rs866677342 | 1036 | R>L | No | gnomAD | |
| rs868813680 | 1036 | R>W | No | Ensembl | |
| rs1184428740 | 1037 | M>I | No | TOPMed | |
| rs1387071588 | 1037 | M>K | No |
TOPMed gnomAD |
|
| rs1018546069 | 1038 | M>K | No | TOPMed | |
| rs1018546069 | 1038 | M>T | No | TOPMed | |
| rs985084983 | 1039 | G>A | No |
TOPMed gnomAD |
|
| rs985084983 | 1039 | G>E | No |
TOPMed gnomAD |
|
| rs372936446 | 1040 | C>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2147674023 | 1041 | E>G | No | Ensembl | |
| rs755446077 | 1042 | R>L | No |
ExAC gnomAD |
|
| rs1187925509 | 1042 | R>W | No | gnomAD | |
| rs1261444511 | 1045 | P>L | No | gnomAD | |
| rs916412541 | 1046 | A>D | No | TOPMed | |
| rs754324040 | 1046 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs754324040 | 1046 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs916412541 | 1046 | A>V | No | TOPMed | |
| rs1490653202 | 1047 | L>F | No | gnomAD | |
| rs2094211164 | 1048 | C>F | No | Ensembl | |
| rs2094211164 | 1048 | C>S | No | Ensembl | |
| rs2094211164 | 1048 | C>Y | No | Ensembl | |
| rs761068792 | 1049 | R>C | No |
ExAC gnomAD |
|
| rs750073941 | 1049 | R>H | No |
ExAC gnomAD |
|
|
rs200236095 COSM1712029 COSM1712030 |
1052 | E>K | skin [Cosmic] | No |
cosmic curated gnomAD |
| rs200236095 | 1052 | E>Q | No | gnomAD | |
| rs1367296820 | 1053 | L>V | No | gnomAD | |
| rs202149893 | 1054 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs1373181728 | 1055 | E>G | No |
TOPMed gnomAD |
|
| rs1456924832 | 1055 | E>K | No | gnomAD | |
| rs1171954838 | 1056 | E>D | No | gnomAD | |
| rs2147673920 | 1056 | E>G | No | Ensembl | |
| rs2147673915 | 1057 | G>D | No | Ensembl | |
| rs2147673912 | 1058 | Q>* | No | Ensembl | |
| rs2147673905 | 1059 | R>S | No | Ensembl | |
| rs768078854 | 1059 | R>T | No |
ExAC gnomAD |
|
| rs2147673898 | 1060 | L>R | No | Ensembl | |
| rs201096771 | 1061 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs201366505 | 1061 | P>L | No |
ExAC gnomAD |
|
| rs201366505 | 1061 | P>R | No |
ExAC gnomAD |
|
| rs201096771 | 1061 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs745722013 | 1062 | A>T | No |
ExAC gnomAD |
|
| rs2094211050 | 1062 | A>V | No | TOPMed | |
| rs2147673869 | 1063 | P>R | No | Ensembl | |
| rs2094211040 | 1064 | P>T | No | TOPMed | |
| rs1029796211 | 1065 | A>D | No | Ensembl | |
| rs953753791 | 1065 | A>S | No |
TOPMed gnomAD |
|
| rs1316226882 | 1066 | C>F | No | gnomAD | |
| rs1206783733 | 1066 | C>R | No | gnomAD | |
| rs1277881786 | 1067 | P>T | No | gnomAD | |
| rs2147673830 | 1068 | A>T | No | Ensembl | |
| rs1418355502 | 1070 | V>F | No | gnomAD | |
| rs1418355502 | 1070 | V>I | No | gnomAD | |
| rs2147670033 | 1071 | H>P | No | Ensembl | |
| rs757910571 | 1071 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs2147670041 | 1071 | H>Y | No | Ensembl | |
| rs2094204926 | 1073 | L>H | No | TOPMed | |
| rs200580168 | 1073 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs371440173 | 1074 | M>V | No |
ESP ExAC gnomAD |
|
| rs2094204907 | 1076 | L>P | No | gnomAD | |
|
COSM1480769 COSM1480768 |
1077 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2147670009 | 1079 | A>T | No | Ensembl | |
| rs2147670005 | 1079 | A>V | No | Ensembl | |
| rs1447329451 | 1080 | P>S | No | gnomAD | |
|
COSM1148107 COSM711178 |
1081 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2147669997 | 1081 | S>N | No | Ensembl | |
| rs200037532 | 1081 | S>R | No | Ensembl | |
| rs2147669992 | 1082 | P>A | No | Ensembl | |
| rs2147669989 | 1083 | Q>* | No | Ensembl | |
|
TCGA novel rs1568399430 |
1083 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs141607788 | 1084 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs2147669982 | 1084 | D>Y | No | Ensembl | |
|
COSM4075492 COSM4075491 |
1086 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2147669963 | 1089 | S>G | No | Ensembl | |
| rs774621426 | 1090 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs2147669939 | 1091 | L>M | No | Ensembl | |
| rs546154574 | 1092 | G>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs768704753 | 1092 | G>S | No |
ExAC gnomAD |
|
| rs746347398 | 1093 | P>S | No |
ExAC gnomAD |
|
|
RCV001779532 rs2147669921 |
1094 | Q>missing | No |
ClinVar dbSNP |
|
| rs200911907 | 1094 | Q>P | No | Ensembl | |
| rs2147669910 | 1095 | L>V | No | Ensembl | |
| rs2094204806 | 1096 | D>H | No | Ensembl | |
| rs2147669898 | 1096 | D>V | No | Ensembl | |
| rs2147669878 | 1097 | M>I | No | Ensembl | |
| rs2094204789 | 1097 | M>R | No | TOPMed | |
| rs2147669870 | 1098 | L>V | No | Ensembl | |
| rs201073968 | 1100 | S>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1391549 COSM75059 rs747388225 |
1101 | G>R | ovary large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs2147669860 | 1102 | S>I | No | Ensembl | |
| rs2147669857 | 1102 | S>R | No | Ensembl | |
| rs778211961 | 1103 | R>G | No |
ExAC gnomAD |
|
| rs757920411 | 1103 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs757920411 | 1103 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs778211961 | 1103 | R>W | No |
ExAC gnomAD |
|
| rs2147669831 | 1104 | G>W | No | Ensembl | |
| rs1568399376 | 1105 | C>G | No | Ensembl | |
| rs1568399376 | 1105 | C>S | No | Ensembl | |
| rs1258709310 | 1105 | C>Y | No | Ensembl | |
| TCGA novel | 1106 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs374152339 | 1106 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs202097488 | 1107 | T>I | No |
ExAC gnomAD |
|
| rs1179820111 | 1107 | T>S | No |
TOPMed gnomAD |
|
| rs754575891 | 1108 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs2147669779 | 1109 | A>P | No | Ensembl | |
|
COSM3530591 rs1419169817 COSM3530590 |
1109 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs753824471 | 1111 | T>A | No |
ExAC gnomAD |
|
| rs2147669769 | 1111 | T>I | No | Ensembl | |
| rs2147669759 | 1112 | A>T | No | Ensembl | |
|
COSM6017365 rs2094204694 COSM6017366 |
1112 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1051602658 | 1114 | P>S | No |
TOPMed gnomAD |
|
| rs1051602658 | 1114 | P>T | No |
TOPMed gnomAD |
|
| rs2147669731 | 1115 | E>K | No | Ensembl | |
| rs2147669731 | 1115 | E>Q | No | Ensembl | |
| rs2147669718 | 1116 | G>D | No | Ensembl | |
| rs1195886720 | 1116 | G>S | No | gnomAD | |
| rs2147669718 | 1116 | G>V | No | Ensembl | |
| rs2147669713 | 1117 | K>T | No | Ensembl | |
| rs1275983760 | 1119 | H>L | No | gnomAD | |
| rs767372883 | 1119 | H>Y | No |
ExAC TOPMed gnomAD |
|
|
TCGA novel rs2094204639 |
1122 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs775733454 | 1123 | F>L | No |
ExAC gnomAD |
1 associated diseases with P52333
[MIM: 600802]: Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID)
A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. . Note=The disease is caused by variants affecting the gene represented in this entry.
14 regional properties for P52333
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | FERM domain | 24 - 356 | IPR000299 |
| domain | Protein kinase domain | 521 - 781 | IPR000719-1 |
| domain | Protein kinase domain | 822 - 1111 | IPR000719-2 |
| domain | SH2 domain | 373 - 477 | IPR000980 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 521 - 777 | IPR001245-1 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 823 - 1094 | IPR001245-2 |
| active_site | Tyrosine-protein kinase, active site | 945 - 957 | IPR008266 |
| binding_site | Protein kinase, ATP binding site | 828 - 855 | IPR017441 |
| domain | Band 4.1 domain | 20 - 254 | IPR019749 |
| domain | Tyrosine-protein kinase, catalytic domain | 521 - 777 | IPR020635-1 |
| domain | Tyrosine-protein kinase, catalytic domain | 822 - 1095 | IPR020635-2 |
| domain | JAK, FERM F2 lobe domain | 126 - 245 | IPR041046 |
| domain | FERM F1 lobe ubiquitin-like domain | 39 - 114 | IPR041155 |
| domain | JAK1-3/TYK2, pleckstrin homology-like domain | 287 - 357 | IPR041381 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.- | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| extrinsic component of cytoplasmic side of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region. |
| extrinsic component of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| growth hormone receptor binding | Binding to a growth hormone receptor. |
| non-membrane spanning protein tyrosine kinase activity | Catalysis of the reaction |
| protein phosphatase binding | Binding to a protein phosphatase. |
| protein tyrosine kinase activity | Catalysis of the reaction |
31 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigens produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| B cell differentiation | The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. |
| cell differentiation | The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cytokine-mediated signaling pathway | The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| enzyme-linked receptor protein signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell, where the receptor possesses catalytic activity or is closely associated with an enzyme such as a protein kinase, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| growth hormone receptor signaling pathway via JAK-STAT | The process in which STAT proteins (Signal Transducers and Activators of Transcription) are activated by members of the JAK (janus activated kinase) family of tyrosine kinases, following the binding of physiological ligands to the growth hormone receptor. Once activated, STATs dimerize and translocate to the nucleus and modulate the expression of target genes. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| interleukin-15-mediated signaling pathway | The series of molecular signals initiated by interleukin-15 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| interleukin-2-mediated signaling pathway | The series of molecular signals initiated by interleukin-2 binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| interleukin-4-mediated signaling pathway | The series of molecular signals initiated by interleukin-4 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| interleukin-9-mediated signaling pathway | The series of molecular signals initiated by interleukin-9 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| negative regulation of dendritic cell cytokine production | Any process that stops, prevents, or reduces the frequency, rate, or extent of dendritic cell cytokine production. |
| negative regulation of FasL production | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of FasL. |
| negative regulation of interleukin-10 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-10 production. |
| negative regulation of interleukin-12 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-12 production. |
| negative regulation of T cell activation | Any process that stops, prevents, or reduces the frequency, rate or extent of T cell activation. |
| negative regulation of T-helper 1 cell differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of T-helper 1 cell differentiation. |
| negative regulation of thymocyte apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of thymocyte death by apoptotic process. |
| peptidyl-tyrosine phosphorylation | The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| receptor signaling pathway via JAK-STAT | Any process in which STAT proteins (Signal Transducers and Activators of Transcription) and JAK (Janus Activated Kinase) proteins convey a signal to trigger a change in the activity or state of a cell. The receptor signaling pathway via JAK-STAT begins with activation of a receptor and proceeeds through STAT protein activation by members of the JAK family of tyrosine kinases. STAT proteins dimerize and subsequently translocate to the nucleus. The pathway ends with regulation of target gene expression by STAT proteins. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| regulation of receptor signaling pathway via JAK-STAT | Any process that modulates the frequency, rate or extent of receptor signaling via JAK-STAT. |
| regulation of T cell apoptotic process | Any process that modulates the occurrence or rate of T cell death by apoptotic process. |
| response to interleukin-15 | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-15 stimulus. |
| response to interleukin-2 | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-2 stimulus. |
| response to interleukin-4 | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-4 stimulus. |
| response to interleukin-9 | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-9 stimulus. |
| T cell homeostasis | The process of regulating the proliferation and elimination of T cells such that the total number of T cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. |
| tyrosine phosphorylation of STAT protein | The process of introducing a phosphate group to a tyrosine residue of a STAT (Signal Transducer and Activator of Transcription) protein. |
76 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A0JNB0 | FYN | Tyrosine-protein kinase Fyn | Bos taurus (Bovine) | SS |
| Q0VBZ0 | CSK | Tyrosine-protein kinase CSK | Bos taurus (Bovine) | SS |
| Q3ZC95 | BTK | Tyrosine-protein kinase | Bos taurus (Bovine) | EV SS |
| P42683 | LCK | Proto-oncogene tyrosine-protein kinase LCK | Gallus gallus (Chicken) | SS |
| P41239 | CSK | Tyrosine-protein kinase CSK | Gallus gallus (Chicken) | SS |
| P00523 | SRC | Proto-oncogene tyrosine-protein kinase Src | Gallus gallus (Chicken) | EV |
| Q02977 | YRK | Proto-oncogene tyrosine-protein kinase Yrk | Gallus gallus (Chicken) | SS |
| Q8JH64 | BTK | Tyrosine-protein kinase BTK | Gallus gallus (Chicken) | SS |
| P09324 | YES1 | Tyrosine-protein kinase Yes | Gallus gallus (Chicken) | SS |
| Q05876 | FYN | Tyrosine-protein kinase Fyn | Gallus gallus (Chicken) | SS |
| Q75R65 | JAK2 | Tyrosine-protein kinase JAK2 | Gallus gallus (Chicken) | SS |
| P08630 | Btk | Tyrosine-protein kinase Btk | Drosophila melanogaster (Fruit fly) | SS |
| Q9V9J3 | Src42A | Tyrosine-protein kinase Src42A | Drosophila melanogaster (Fruit fly) | SS |
| P00528 | Src64B | Tyrosine-protein kinase Src64B | Drosophila melanogaster (Fruit fly) | SS |
| Q24592 | hop | Tyrosine-protein kinase hopscotch | Drosophila melanogaster (Fruit fly) | PR |
| P41240 | CSK | Tyrosine-protein kinase CSK | Homo sapiens (Human) | SS |
| P51451 | BLK | Tyrosine-protein kinase Blk | Homo sapiens (Human) | SS |
| P06239 | LCK | Tyrosine-protein kinase Lck | Homo sapiens (Human) | EV |
| P06241 | FYN | Tyrosine-protein kinase Fyn | Homo sapiens (Human) | SS |
| P51813 | BMX | Cytoplasmic tyrosine-protein kinase BMX | Homo sapiens (Human) | SS |
| P12931 | SRC | Proto-oncogene tyrosine-protein kinase Src | Homo sapiens (Human) | EV |
| P09769 | FGR | Tyrosine-protein kinase Fgr | Homo sapiens (Human) | SS |
| P42680 | TEC | Tyrosine-protein kinase Tec | Homo sapiens (Human) | SS |
| P42679 | MATK | Megakaryocyte-associated tyrosine-protein kinase | Homo sapiens (Human) | SS |
| Q08881 | ITK | Tyrosine-protein kinase ITK/TSK | Homo sapiens (Human) | EV |
| P07948 | LYN | Tyrosine-protein kinase Lyn | Homo sapiens (Human) | SS |
| Q13882 | PTK6 | Protein-tyrosine kinase 6 | Homo sapiens (Human) | EV |
| P08631 | HCK | Tyrosine-protein kinase HCK | Homo sapiens (Human) | EV |
| P07947 | YES1 | Tyrosine-protein kinase Yes | Homo sapiens (Human) | SS |
| P42685 | FRK | Tyrosine-protein kinase FRK | Homo sapiens (Human) | EV |
| Q06187 | BTK | Tyrosine-protein kinase BTK | Homo sapiens (Human) | EV |
| P29597 | TYK2 | Non-receptor tyrosine-protein kinase TYK2 | Homo sapiens (Human) | EV |
| P23458 | JAK1 | Tyrosine-protein kinase JAK1 | Homo sapiens (Human) | SS |
| O60674 | JAK2 | Tyrosine-protein kinase JAK2 | Homo sapiens (Human) | EV |
| Q9R117 | Tyk2 | Non-receptor tyrosine-protein kinase TYK2 | Mus musculus (Mouse) | SS |
| P08103 | Hck | Tyrosine-protein kinase HCK | Mus musculus (Mouse) | SS |
| P16277 | Blk | Tyrosine-protein kinase Blk | Mus musculus (Mouse) | SS |
| Q62270 | Srms | Tyrosine-protein kinase Srms | Mus musculus (Mouse) | SS |
| Q64434 | Ptk6 | Protein-tyrosine kinase 6 | Mus musculus (Mouse) | SS |
| P05480 | Src | Proto-oncogene tyrosine-protein kinase Src | Mus musculus (Mouse) | EV |
| P14234 | Fgr | Tyrosine-protein kinase Fgr | Mus musculus (Mouse) | SS |
| P35991 | Btk | Tyrosine-protein kinase BTK | Mus musculus (Mouse) | EV |
| P41241 | Csk | Tyrosine-protein kinase CSK | Mus musculus (Mouse) | EV |
| P25911 | Lyn | Tyrosine-protein kinase Lyn | Mus musculus (Mouse) | EV |
| P06240 | Lck | Proto-oncogene tyrosine-protein kinase LCK | Mus musculus (Mouse) | SS |
| P24604 | Tec | Tyrosine-protein kinase Tec | Mus musculus (Mouse) | SS |
| Q04736 | Yes1 | Tyrosine-protein kinase Yes | Mus musculus (Mouse) | SS |
| P39688 | Fyn | Tyrosine-protein kinase Fyn | Mus musculus (Mouse) | SS |
| P52332 | Jak1 | Tyrosine-protein kinase JAK1 | Mus musculus (Mouse) | SS |
| Q03526 | Itk | Tyrosine-protein kinase ITK/TSK | Mus musculus (Mouse) | SS |
| P41242 | Matk | Megakaryocyte-associated tyrosine-protein kinase | Mus musculus (Mouse) | SS |
| Q922K9 | Frk | Tyrosine-protein kinase FRK | Mus musculus (Mouse) | SS |
| Q62120 | Jak2 | Tyrosine-protein kinase JAK2 | Mus musculus (Mouse) | EV |
| Q62137 | Jak3 | Tyrosine-protein kinase JAK3 | Mus musculus (Mouse) | SS |
| A1Y2K1 | FYN | Tyrosine-protein kinase Fyn | Sus scrofa (Pig) | SS |
| O19064 | JAK2 | Tyrosine-protein kinase JAK2 | Sus scrofa (Pig) | SS |
| Q62662 | Frk | Tyrosine-protein kinase FRK | Rattus norvegicus (Rat) | SS |
| Q62844 | Fyn | Tyrosine-protein kinase Fyn | Rattus norvegicus (Rat) | SS |
| Q07014 | Lyn | Tyrosine-protein kinase Lyn | Rattus norvegicus (Rat) | SS |
| P50545 | Hck | Tyrosine-protein kinase HCK | Rattus norvegicus (Rat) | SS |
| Q9WUD9 | Src | Proto-oncogene tyrosine-protein kinase Src | Rattus norvegicus (Rat) | SS |
| Q01621 | Lck | Proto-oncogene tyrosine-protein kinase LCK | Rattus norvegicus (Rat) | SS |
| Q6P6U0 | Fgr | Tyrosine-protein kinase Fgr | Rattus norvegicus (Rat) | SS |
| Q62689 | Jak2 | Tyrosine-protein kinase JAK2 | Rattus norvegicus (Rat) | SS |
| P32577 | Csk | Tyrosine-protein kinase CSK | Rattus norvegicus (Rat) | SS |
| P41243 | Matk | Megakaryocyte-associated tyrosine-protein kinase | Rattus norvegicus (Rat) | SS |
| F1LM93 | Yes1 | Tyrosine-protein kinase Yes | Rattus norvegicus (Rat) | SS |
| Q63272 | Jak3 | Tyrosine-protein kinase JAK3 | Rattus norvegicus (Rat) | SS |
| O45539 | src-2 | Tyrosine protein-kinase src-2 | Caenorhabditis elegans | SS |
| G5ECJ6 | csk-1 | Tyrosine-protein kinase csk-1 | Caenorhabditis elegans | SS |
| G5EE56 | src-1 | Tyrosine protein-kinase src-1 | Caenorhabditis elegans | SS |
| A1A5H8 | yes1 | Tyrosine-protein kinase yes | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| F1RDG9 | fynb | Tyrosine-protein kinase fynb | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| O12990 | jak1 | Tyrosine-protein kinase JAK1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q1JPZ3 | src | Proto-oncogene tyrosine-protein kinase Src | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q6EWH2 | fyna | Tyrosine-protein kinase fyna | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPPSEETPL | IPQRSCSLLS | TEAGALHVLL | PARGPGPPQR | LSFSFGDHLA | EDLCVQAAKA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SGILPVYHSL | FALATEDLSC | WFPPSHIFSV | EDASTQVLLY | RIRFYFPNWF | GLEKCHRFGL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RKDLASAILD | LPVLEHLFAQ | HRSDLVSGRL | PVGLSLKEQG | ECLSLAVLDL | ARMAREQAQR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PGELLKTVSY | KACLPPSLRD | LIQGLSFVTR | RRIRRTVRRA | LRRVAACQAD | RHSLMAKYIM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DLERLDPAGA | AETFHVGLPG | ALGGHDGLGL | LRVAGDGGIA | WTQGEQEVLQ | PFCDFPEIVD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ISIKQAPRVG | PAGEHRLVTV | TRTDNQILEA | EFPGLPEALS | FVALVDGYFR | LTTDSQHFFC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KEVAPPRLLE | EVAEQCHGPI | TLDFAINKLK | TGGSRPGSYV | LRRSPQDFDS | FLLTVCVQNP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LGPDYKGCLI | RRSPTGTFLL | VGLSRPHSSL | RELLATCWDG | GLHVDGVAVT | LTSCCIPRPK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EKSNLIVVQR | GHSPPTSSLV | QPQSQYQLSQ | MTFHKIPADS | LEWHENLGHG | SFTKIYRGCR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HEVVDGEARK | TEVLLKVMDA | KHKNCMESFL | EAASLMSQVS | YRHLVLLHGV | CMAGDSTMVQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EFVHLGAIDM | YLRKRGHLVP | ASWKLQVVKQ | LAYALNYLED | KGLPHGNVSA | RKVLLAREGA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DGSPPFIKLS | DPGVSPAVLS | LEMLTDRIPW | VAPECLREAQ | TLSLEADKWG | FGATVWEVFS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GVTMPISALD | PAKKLQFYED | RQQLPAPKWT | ELALLIQQCM | AYEPVQRPSF | RAVIRDLNSL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ISSDYELLSD | PTPGALAPRD | GLWNGAQLYA | CQDPTIFEER | HLKYISQLGK | GNFGSVELCR |
| 850 | 860 | 870 | 880 | 890 | 900 |
| YDPLGDNTGA | LVAVKQLQHS | GPDQQRDFQR | EIQILKALHS | DFIVKYRGVS | YGPGRQSLRL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| VMEYLPSGCL | RDFLQRHRAR | LDASRLLLYS | SQICKGMEYL | GSRRCVHRDL | AARNILVESE |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| AHVKIADFGL | AKLLPLDKDY | YVVREPGQSP | IFWYAPESLS | DNIFSRQSDV | WSFGVVLYEL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| FTYCDKSCSP | SAEFLRMMGC | ERDVPALCRL | LELLEEGQRL | PAPPACPAEV | HELMKLCWAP |
| 1090 | 1100 | 1110 | 1120 | ||
| SPQDRPSFSA | LGPQLDMLWS | GSRGCETHAF | TAHPEGKHHS | LSFS |