Q16720
EV
Gene name |
ATP2B3 |
Protein name |
Plasma membrane calcium-transporting ATPase 3 |
Names |
PMCA3, Plasma membrane calcium ATPase isoform 3, Plasma membrane calcium pump isoform 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:492 |
EC number |
7.2.2.10: Linked to the hydrolysis of a nucleoside triphosphate |
Protein Class |
CATION TRANSPORTING ATPASE (PTHR24093) |
Descriptions
The plasmid membrane Ca2+ pump (PMCA) extrudes Ca2+ from the cytosol to the extracellular space playing an important role in the maintenance of the resting level of intracellular Ca2+ and in the control of the Ca2+ transients. The PMCAs are of major physiological importance, with different isoforms being essential for presynaptic and postsynaptic Ca2+ regulation in neurons and for feedback signaling in the heart and sperm motility. The PMCAs belong to the subtype 2B of P-type ATPases. The C-terminal segment of the PMCA functions as an autoinhibitory domain by interacting with the catalytic core. Ca2+-calmodulin binds to the C-terminal segment and stops inhibition by switching the PMCA to an activated state of higher maximum activity and affinity for Ca2+. In the PMCA3, the G1107D replacement impairs the autoinhibition mechanism by introducing a negative charge perturbing the contacts between the calmodulin binding domain and the pump core.
Autoinhibitory domains (AIDs)
Target domain |
354-1060 (P-type ATPase domain) |
Relief mechanism |
Partner binding, Ligand binding |
Assay |
Mutagenesis experiment |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q16720
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q16720-F1 | Predicted | AlphaFoldDB |
790 variants for Q16720
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1603040061 CA415073373 RCV000855493 |
66 | S>L | Fetal akinesia deformation sequence 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10547439 RCV000659182 rs149114271 RCV002536337 |
72 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000149854 rs724160011 |
425 | L>missing | Aldosterone-producing adrenal cortex adenoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs724160009 RCV000149852 |
425 | L>missing | Aldosterone-producing adrenal cortex adenoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000149855 rs724160012 |
426 | V>missing | Aldosterone-producing adrenal cortex adenoma [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM388423 CA415083924 VAR_084698 COSM388422 COSM388420 COSM388421 rs1557010446 |
482 | R>H | lung Variant assessed as Somatic; MODERATE impact. endometrium SCAX1; the mutant protein is expressed at the plasma membrane, but shows impaired extrusion of intracellular calcium [Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD UniProt |
|
RCV001329440 TCGA novel rs2090483867 |
659 | P>L | X-linked progressive cerebellar ataxia Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000440045 CA10547861 RCV003258809 rs781901998 |
677 | V>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001352913 RCV002547572 rs782683285 CA10547884 |
696 | R>C | X-linked progressive cerebellar ataxia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002509665 rs782081961 RCV001335485 |
720 | G>R | X-linked progressive cerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000432860 CA10547989 rs782219358 RCV002522700 |
814 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA415073483 RCV000622643 rs1557014686 |
825 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000790994 rs782067205 CA10548159 |
1095 | R>Q | X-linked progressive cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA415078394 RCV000679933 rs1569535623 |
1105 | F>I | X-linked progressive cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1227019809 RCV001329441 CA415078416 |
1106 | R>W | X-linked progressive cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000033061 rs397514619 RCV002513313 RCV000487170 VAR_069308 CA130624 |
1107 | G>D | X-linked progressive cerebellar ataxia Inborn genetic diseases SCAX1; the mutant protein is expressed at the plasma membrane but shows impaired extrusion of intracellular calcium with prolonged retention of cytoplasmic calcium compared to wild-type under physiologic conditions [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000210622 CA358097 rs368215361 |
1113 | T>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10548273 RCV000610922 RCV000973065 rs149428057 |
1173 | A>V | X-linked progressive cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA337220274 rs782596945 RCV000491103 RCV001329442 |
1198 | K>N | Global developmental delay X-linked progressive cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1557003806 CA415072935 |
2 | G>D | No |
ClinGen gnomAD |
|
|
rs201392065 CA10547404 |
3 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415072983 rs1557003844 |
9 | I>V | No |
ClinGen gnomAD |
|
|
CA415072989 rs1557003858 |
10 | E>K | No |
ClinGen gnomAD |
|
|
rs1184245693 CA415073001 |
11 | F>S | No |
ClinGen TOPMed |
|
|
rs1438668834 CA415073028 |
15 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA415073049 rs1557003908 |
18 | Q>K | No |
ClinGen gnomAD |
|
|
COSM1466493 COSM1466492 COSM1466490 COSM1466491 |
19 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10547407 rs150362066 |
19 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1557003915 CA415073058 |
19 | R>W | No |
ClinGen gnomAD |
|
|
rs1557003930 CA415073066 |
20 | D>V | No |
ClinGen gnomAD |
|
|
CA415073080 rs1557003939 |
22 | P>L | No |
ClinGen TOPMed |
|
|
rs1237934527 CA415073085 |
23 | Q>R | No |
ClinGen TOPMed |
|
|
CA415073116 rs1557003947 |
28 | G>W | No |
ClinGen gnomAD |
|
|
CA415073127 rs1557003954 |
29 | C>* | No |
ClinGen gnomAD |
|
|
CA10547408 rs575379053 |
30 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10547410 COSM1184075 COSM1184074 COSM1184077 COSM1184076 rs782137713 |
32 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA415073147 rs1222310774 |
33 | E>A | No |
ClinGen TOPMed |
|
|
CA415073158 rs1342263352 |
35 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA415073160 rs1280847735 |
35 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA415073157 rs1342263352 |
35 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782034953 CA10547412 |
36 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415073169 rs1557004021 |
37 | L>V | No |
ClinGen gnomAD |
|
|
rs1557004025 CA415073174 |
38 | M>L | No |
ClinGen gnomAD |
|
|
rs1557004027 CA415073188 |
39 | E>G | No |
ClinGen gnomAD |
|
|
rs1557004035 CA415073200 |
41 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1557004055 CA415073204 |
42 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 43 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782756404 CA10547417 |
44 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415073220 rs1557004085 |
45 | A>T | No |
ClinGen gnomAD |
|
|
COSM3939857 rs1412756906 COSM3939858 COSM3939860 CA415073224 COSM3939859 |
45 | A>V | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
rs1557004103 CA415073226 |
46 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 47 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415073256 rs1379952932 |
50 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs782666675 CA10547420 |
51 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415073279 rs1557004126 |
53 | Y>C | No |
ClinGen gnomAD |
|
|
COSM4388537 COSM4388536 COSM4388538 COSM4388539 rs1557004138 CA415073283 |
54 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
CA415073289 rs1557004154 |
55 | D>N | No |
ClinGen gnomAD |
|
|
COSM4821702 COSM4821701 COSM4821703 COSM4821704 |
55 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM356606 rs1210021854 COSM356603 COSM356605 CA415073311 COSM356604 |
58 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1441248349 CA415073332 |
61 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs895866699 CA337232605 |
61 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10547422 rs782444167 |
64 | K>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000431839 CA16608722 rs1057522698 |
65 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 69 | E>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 70 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376408495 CA10547441 |
72 | A>E | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs376408495 COSM3708507 COSM3708505 COSM3708504 CA10547440 COSM3708506 |
72 | A>V | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
CA10547443 rs782571172 |
73 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs782200308 CA10547444 |
74 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1390179489 CA415074482 |
75 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 77 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10547445 rs369249946 |
79 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 81 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000494614 CA415074564 rs1131691962 |
82 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10547446 rs782633373 |
82 | R>K | No |
ClinGen ExAC |
|
|
rs1557006189 CA415074594 |
84 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 87 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs921398808 CA337234966 |
89 | F>V | No |
ClinGen Ensembl |
|
| TCGA novel | 90 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782013555 CA10547449 |
91 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1373954601 CA415074709 |
92 | P>R | No |
ClinGen TOPMed |
|
|
CA415074715 rs1168376175 |
93 | K>E | No |
ClinGen TOPMed |
|
|
rs782163973 CA10547450 |
93 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 94 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1557006211 | 94 | Q>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415074776 rs1255449474 |
98 | F>L | No |
ClinGen TOPMed |
|
|
rs1194878317 CA415074810 |
100 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 100 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557006248 CA415074825 |
102 | V>L | No |
ClinGen gnomAD |
|
|
rs781931898 CA10547452 |
103 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA10547451 rs782307996 |
103 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415074857 rs1264718326 |
104 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 105 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10547454 rs373591839 |
109 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1250489397 CA415074925 |
110 | T>N | No |
ClinGen TOPMed |
|
|
rs1557006292 CA415074952 |
112 | I>M | No |
ClinGen gnomAD |
|
|
COSM6118206 COSM6118207 COSM6118205 COSM6118204 |
115 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs781885099 CA337235085 |
116 | V>L | No |
ClinGen 1000Genomes |
|
|
rs141987032 CA10547457 |
119 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782499429 CA10547458 |
120 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782499429 CA10547459 |
120 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 121 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415075060 rs1233535956 |
123 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM3424585 COSM3424583 COSM3424586 COSM3424584 |
126 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1117318 COSM1117317 COSM1117316 COSM1117320 |
128 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1184067 rs1557006336 COSM1184069 COSM1184066 COSM1184068 CA415075132 |
128 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA10547465 rs782416017 |
129 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1397501370 CA415075135 |
129 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782343391 CA10547468 |
130 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA415075162 rs1557006369 |
132 | E>K | No |
ClinGen gnomAD |
|
|
rs781967069 CA10547469 |
133 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 136 | A>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 139 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415075291 rs1410645875 |
140 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs782640074 CA10547486 |
141 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 142 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10547489 rs148126611 |
144 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM6186196 COSM6186198 COSM6186197 COSM6186195 |
149 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1117328 rs781988092 COSM1117326 COSM1117330 CA10547492 COSM1117327 |
149 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
rs782141915 COSM1158377 COSM1158376 COSM1158378 CA10547493 COSM1158379 |
151 | E>K | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1557006499 CA415075365 |
152 | A>T | No |
ClinGen gnomAD |
|
|
rs782024928 CA10547495 |
156 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10547497 rs782679701 |
158 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1603051083 CA415075416 |
159 | A>V | No |
ClinGen Ensembl |
|
|
CA10547498 rs782701955 |
160 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10547500 rs782486359 COSM457021 COSM457020 COSM457022 COSM457019 |
164 | V>I | central_nervous_system breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM457025 COSM457023 COSM457024 COSM457026 |
166 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10547501 rs782758608 |
166 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 169 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782555461 CA10547503 |
169 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557006556 COSM5744135 COSM5744134 CA415075485 COSM5744132 COSM5744133 |
171 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
| TCGA novel | 173 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447751978 CA415075517 |
176 | W>R | No |
ClinGen TOPMed |
|
|
rs782194935 CA10547505 |
177 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1339134669 CA415075548 |
179 | E>D | No |
ClinGen TOPMed |
|
|
rs782497358 CA415075575 |
183 | R>* | No |
ClinGen gnomAD |
|
|
rs782614609 CA10547507 |
183 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA415075581 rs1401835275 |
184 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs782251509 CA10547508 |
186 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA10547509 rs149739256 |
188 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10547510 rs374102145 |
190 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10547511 rs782289059 |
196 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2269409 VAR_027928 CA10547513 |
198 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1625664 COSM1625662 COSM1625665 COSM1625663 rs1471681179 CA415075680 |
199 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs782075864 CA10547514 COSM3235370 |
199 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA |
|
rs139830103 CA10547515 |
200 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA415075696 rs1557006670 |
201 | G>A | No |
ClinGen gnomAD |
|
|
CA415075691 rs1557006663 |
201 | G>R | No |
ClinGen gnomAD |
|
|
CA10547519 rs781792535 |
207 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA10547521 rs782725101 |
208 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM2150684 COSM2150683 CA337235682 COSM2150682 rs200641356 COSM2150685 |
210 | A>V | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA gnomAD |
|
CA10547523 rs782501292 |
213 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 215 | D>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557006744 CA415075806 |
218 | Q>H | No |
ClinGen gnomAD |
|
|
CA10547525 rs781898775 |
218 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
COSM4107681 COSM4107678 rs782560581 COSM4107680 CA10547526 COSM4107679 |
219 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
rs267606392 CA337236061 |
223 | D>N | No |
ClinGen Ensembl |
|
|
CA415075959 rs1180576613 |
227 | A>V | No |
ClinGen TOPMed |
|
|
COSM4107685 COSM4107684 COSM4107682 COSM4107683 |
228 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1207573413 CA415076003 |
230 | V>A | No |
ClinGen TOPMed |
|
|
rs1248033978 CA415075996 |
230 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
RCV000892727 rs62642960 CA10547549 |
232 | I>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10547550 rs782586676 |
232 | I>T | No |
ClinGen ExAC gnomAD |
|
|
COSM6186192 COSM6186191 COSM6186193 COSM6186194 |
233 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA415076050 rs1557007006 |
234 | A>S | No |
ClinGen gnomAD |
|
|
CA415076110 rs373218576 |
238 | K>M | No |
ClinGen gnomAD |
|
|
CA337236094 rs373218576 |
238 | K>T | No |
ClinGen gnomAD |
|
|
rs782363389 CA10547552 |
240 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1569534123 CA415076156 |
241 | E>D | No |
ClinGen Ensembl |
|
|
COSM1490626 COSM1490627 COSM1490628 COSM1490625 |
241 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 245 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375375490 CA10547554 |
245 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM6118203 COSM6118202 COSM6118200 COSM6118201 |
245 | T>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10547556 rs369434258 |
250 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782054284 CA10547557 |
251 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM4107693 COSM4107692 rs373144811 COSM4107691 COSM4107690 CA337236168 |
252 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP NCI-TCGA TOPMed gnomAD |
|
rs781943497 CA10547559 |
252 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415076290 rs781943497 |
252 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4838025 COSM4838024 COSM4838022 COSM4838023 |
254 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 259 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415076423 rs1557007063 |
260 | M>I | No |
ClinGen gnomAD |
|
|
CA10547563 rs782544203 |
261 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415076444 rs1368219603 |
262 | L>V | No |
ClinGen TOPMed |
|
|
COSM1466494 COSM1466497 COSM1466496 COSM1466495 |
264 | G>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA415076682 rs1557007337 |
268 | M>V | No |
ClinGen TOPMed |
|
|
CA415076880 rs1322544254 |
278 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1322544254 CA415076875 |
278 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781838590 CA10547583 |
279 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA415076939 rs376411863 |
281 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
COSM1490632 rs376411863 CA337236588 COSM1490629 COSM1490630 COSM1490631 |
281 | V>M | breast [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA10547584 rs782282209 |
282 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs868943035 CA415076992 |
283 | S>F | No |
ClinGen Ensembl |
|
|
rs1557007382 CA415077030 |
286 | G>S | No |
ClinGen gnomAD |
|
|
CA415077044 rs1557007385 |
286 | G>V | No |
ClinGen gnomAD |
|
|
rs1011573442 CA337236610 |
290 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1043114877 CA337236633 |
292 | L>F | No |
ClinGen gnomAD |
|
|
CA10547588 rs782566063 |
294 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10547590 rs148439730 |
296 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM5184695 | 298 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA415077261 rs1489955696 |
298 | E>G | No |
ClinGen TOPMed |
|
|
rs782241566 CA10547592 |
303 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs782777338 CA10547591 |
303 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782386253 CA10547593 |
304 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 305 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415080003 rs1557008587 |
308 | Q>* | No |
ClinGen gnomAD |
|
|
CA10547611 rs782570859 |
310 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs113248960 CA337238190 |
312 | A>V | No |
ClinGen Ensembl |
|
|
CA10547613 rs782354149 |
313 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337238198 rs919044681 |
313 | M>V | No |
ClinGen TOPMed |
|
|
rs782639710 CA10547614 |
315 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 316 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782255236 CA10547615 |
316 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 318 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 320 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415080376 rs1198276057 |
320 | A>T | No |
ClinGen TOPMed |
|
|
rs1557009327 CA415080691 |
320 | A>V | No |
ClinGen gnomAD |
|
|
CA10547633 rs782426937 |
321 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10547634 rs782579659 |
323 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1557009342 CA415080756 |
324 | D>V | No |
ClinGen gnomAD |
|
|
rs782209060 CA10547635 |
326 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs782367795 CA10547636 |
327 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs781995509 CA10547637 |
328 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1117337 COSM1117340 COSM1117338 COSM1117336 |
328 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10547638 rs782263430 |
329 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782061934 CA337239011 |
329 | M>L | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 330 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1117342 COSM1117343 COSM1117341 COSM1117345 |
331 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1557009360 CA415080902 |
334 | L>Q | No |
ClinGen gnomAD |
|
|
rs782421970 CA10547639 |
335 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1557009377 CA415080941 |
337 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM5798066 CA10547640 COSM5798065 COSM5798067 COSM5798064 rs782034545 |
337 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
rs982119003 CA337239042 |
339 | G>R | No |
ClinGen Ensembl |
|
|
rs1557009405 CA415080989 |
340 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs879975171 CA415081005 |
341 | E>Q | No |
ClinGen Ensembl |
|
|
COSM6186190 COSM6186187 COSM6186189 COSM6186188 |
343 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs782717151 CA10547642 |
344 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA415081072 rs1416640986 |
345 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs781949841 CA10547643 |
345 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416640986 CA415081073 |
345 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs782116937 CA10547644 |
351 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM4107710 CA10547645 COSM4107713 COSM4107711 rs782779816 COSM4107712 |
352 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
CA10547647 rs782541747 |
354 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA415081328 rs1178897964 |
356 | E>G | No |
ClinGen TOPMed |
|
|
CA415081320 RCV000797173 rs1603067696 |
356 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1457099477 CA415081370 |
359 | V>I | No |
ClinGen TOPMed |
|
|
COSM1466499 COSM1466501 COSM1466500 COSM1466498 |
363 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA415081425 rs1230977521 |
363 | K>T | No |
ClinGen TOPMed |
|
|
CA415081442 rs1212046896 |
365 | T>A | No |
ClinGen TOPMed |
|
|
CA415081466 CA10547648 rs781899411 |
366 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10547651 rs782608891 |
369 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4107715 COSM4107714 COSM4107717 COSM4107716 |
370 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA415081502 rs1345845247 |
370 | Q>E | No |
ClinGen TOPMed |
|
|
CA10547652 rs782256298 |
370 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1557009484 CA415081509 |
371 | I>V | No |
ClinGen gnomAD |
|
|
rs782528838 CA10547653 |
374 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs782672195 CA10547654 |
375 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA10547676 rs782258702 |
376 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10547677 rs41299126 |
377 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1485023372 CA415081659 |
380 | A>T | No |
ClinGen TOPMed |
|
|
rs782178184 CA10547679 |
381 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10547680 rs782321283 |
382 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs140811428 CA10547682 |
383 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA337239501 rs955565897 |
391 | V>L | No |
ClinGen Ensembl |
|
|
CA337239511 rs191762680 |
392 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10547683 rs191762680 |
392 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10547684 rs782006466 |
393 | E>D | No |
ClinGen ExAC |
|
|
rs924902616 CA337239530 |
394 | T>K | No |
ClinGen gnomAD |
|
|
CA415081839 rs924902616 COSM3424588 COSM3424590 COSM3424589 COSM3424587 |
394 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
CA10547686 rs782817229 |
397 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA337239545 rs983976559 |
397 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA10547688 rs201209579 |
399 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000422370 CA16609135 rs1057522935 |
400 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10547689 rs782458081 |
400 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
COSM6118198 COSM6118199 COSM6118197 COSM6118196 |
402 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10547690 rs781840461 |
402 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415081982 rs1557009908 |
406 | C>G | No |
ClinGen gnomAD |
|
|
CA415081980 rs1557009908 |
406 | C>R | No |
ClinGen gnomAD |
|
|
CA10547691 rs782497346 |
407 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM6118194 COSM6118193 COSM6118195 COSM6118192 |
408 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs782210278 COSM1466502 COSM1466504 CA10547696 COSM1466503 COSM1466505 |
415 | V>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs782353306 CA10547697 |
421 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs782618407 CA10547698 RCV000519105 |
422 | V>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs782266208 CA10547699 |
423 | T>I | No |
ClinGen ExAC gnomAD |
|
| VAR_084697 | 425 | L>del | an aldosterone-producing adenoma sample; somatic mutation; increases intracellular calcium concentration that leads to autonomous aldosterone secretion [UniProt] | No | UniProt |
| TCGA novel | 428 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1603069958 CA415082317 |
432 | G>V | No |
ClinGen Ensembl |
|
| TCGA novel | 436 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415082388 rs1557010015 |
438 | T>I | No |
ClinGen TOPMed |
|
|
COSM6186183 COSM6186186 COSM6186184 COSM6186185 |
451 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10547721 rs782363742 |
451 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10547722 rs781989417 |
456 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782266895 CA10547723 |
457 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM6186179 COSM6186180 COSM6186182 COSM6186181 |
458 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10547726 rs201200020 |
459 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM5576431 CA10547728 COSM5576430 COSM5576433 COSM5576432 rs781959495 |
462 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
CA10547729 rs781959495 |
462 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1557010390 CA415083629 |
464 | M>T | No |
ClinGen gnomAD |
|
|
rs1557010395 CA415083644 |
465 | G>D | No |
ClinGen gnomAD |
|
|
CA415083639 rs1469213900 |
465 | G>S | No |
ClinGen TOPMed |
|
|
rs138121365 CA10547731 |
467 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10547733 rs782696034 |
475 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
COSM1466508 CA415083921 rs1359406924 COSM1466506 COSM1466509 COSM1466507 |
482 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA10547737 rs782249887 |
485 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA10547738 rs782522972 |
487 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1557010461 CA415083991 |
487 | Q>R | No |
ClinGen gnomAD |
|
|
rs782682184 CA337240119 |
488 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA10547739 rs782682184 |
488 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM1117349 COSM1117347 COSM1117351 COSM1117348 |
489 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1557010490 CA415084055 |
493 | T>I | No |
ClinGen gnomAD |
|
|
CA415084064 rs1557010492 |
494 | H>L | No |
ClinGen gnomAD |
|
|
CA10547741 rs782322637 |
496 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10547742 rs143273384 |
497 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA337240138 rs932627686 |
500 | A>V | No |
ClinGen Ensembl |
|
|
rs782221177 CA10547743 |
501 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA337240143 rs891150954 |
503 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1171198707 CA415084191 |
507 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 509 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557010548 CA415084227 |
510 | D>E | No |
ClinGen gnomAD |
|
|
rs782427304 CA10547747 |
510 | D>H | No |
ClinGen ExAC gnomAD |
|
|
COSM4107728 COSM4107729 COSM4107726 CA415084218 rs782427304 COSM4107727 |
510 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
CA415084241 rs1557010556 |
512 | L>M | No |
ClinGen gnomAD |
|
|
COSM1117353 COSM1117354 COSM1117352 COSM1117356 |
513 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 515 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148354266 CA10547750 |
516 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10547752 rs781840514 |
518 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA415084304 rs1557010570 |
518 | I>T | No |
ClinGen gnomAD |
|
|
CA10547751 rs781840514 |
518 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA415084310 rs1557010572 |
519 | N>D | No |
ClinGen gnomAD |
|
|
CA10547753 rs782779068 |
521 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA415084345 rs1557010583 |
522 | Y>C | No |
ClinGen gnomAD |
|
|
CA415084366 rs1252750416 |
525 | K>R | No |
ClinGen TOPMed |
|
|
rs781818476 CA10547770 |
528 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs947514649 CA337240376 |
533 | G>D | No |
ClinGen TOPMed |
|
|
COSM1117357 COSM1117358 CA10547772 COSM1117361 COSM1117359 rs782080544 |
534 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10547773 rs782742360 |
537 | R>C | No |
ClinGen ExAC TOPMed |
|
|
CA337240384 rs782601191 |
537 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA415084529 rs1288628380 |
538 | Q>K | No |
ClinGen TOPMed |
|
|
rs1557010780 CA415084535 |
538 | Q>R | No |
ClinGen gnomAD |
|
|
COSM6186178 COSM6186175 COSM6186176 COSM6186177 |
539 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 539 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781847026 CA10547774 |
541 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM85254 COSM85253 |
543 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3559442 COSM3559443 COSM3559441 COSM3559444 |
544 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 546 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415084665 rs1557010813 |
550 | F>L | No |
ClinGen gnomAD |
|
|
rs1428716008 CA415084678 |
551 | V>L | No |
ClinGen TOPMed |
|
|
rs782218503 CA10547780 |
552 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782218503 CA415084688 |
552 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415084711 rs868926842 |
554 | L>M | No |
ClinGen Ensembl |
|
|
COSM4107732 COSM4107731 COSM4107733 COSM4107730 |
554 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA337240421 rs371278810 |
556 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs782493693 CA10547781 |
556 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs373429243 CA10547782 |
557 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415084768 rs1557010857 |
559 | Q>L | No |
ClinGen gnomAD |
|
|
CA10547783 rs782261423 |
560 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371089124 CA10547785 |
561 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229764234 CA415084794 |
562 | R>H | No |
ClinGen TOPMed |
|
|
rs782199372 CA10547786 |
562 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA415084806 rs1557010897 |
563 | E>G | No |
ClinGen gnomAD |
|
|
rs183616032 CA10547789 |
563 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10547790 rs782772934 |
564 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs782009124 CA415084833 |
565 | I>M | No |
ClinGen ExAC gnomAD |
|
|
COSM1165162 rs1433263793 COSM1165164 CA415084841 COSM1165163 COSM1165165 |
566 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA10547793 rs782700739 |
568 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM383688 CA10547794 COSM383689 rs781812464 COSM383690 COSM383687 |
570 | L>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs868929435 CA415084901 |
571 | Y>* | No |
ClinGen Ensembl |
|
| TCGA novel | 574 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461373030 CA415084948 |
575 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 577 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557010927 CA415084970 |
577 | N>S | No |
ClinGen gnomAD |
|
|
COSM1176562 COSM1176561 COSM1176560 COSM1176563 |
578 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10547795 rs782478996 |
579 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782478996 CA415084991 |
579 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557010945 CA415084996 |
580 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10547796 RCV000584941 rs782753613 |
584 | S>G | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs781860414 CA10547797 |
588 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10547798 RCV000935842 rs201731964 |
588 | R>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA415085064 rs201731964 |
588 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10547802 rs144084270 |
591 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10547800 rs782292148 |
591 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1466514 COSM1466516 COSM1466517 COSM1466515 |
595 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA415085138 rs1192851599 |
597 | F>L | No |
ClinGen TOPMed |
|
|
COSM3559452 COSM3559451 COSM3559449 COSM3559450 |
600 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 601 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 601 | A>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557010991 CA415085179 |
601 | A>P | No |
ClinGen gnomAD |
|
|
CA415085212 rs1557011000 |
605 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 608 | K>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782674402 CA10547823 |
615 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA10547824 rs782179068 |
616 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM3913613 COSM3913616 rs782615379 CA10547826 COSM3913614 COSM3913615 |
618 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
CA10547827 rs782232214 |
619 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs943411634 CA337241585 COSM4107735 COSM4107737 COSM4107736 COSM4107734 |
620 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed |
|
rs1569534813 CA415085734 |
620 | R>W | No |
ClinGen Ensembl |
|
|
CA415085752 COSM3559456 rs1569534815 COSM3559455 COSM3559454 COSM3559453 |
621 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA |
| TCGA novel | 621 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371381747 CA415085781 |
623 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138987562 CA415085785 |
623 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10547829 rs138987562 |
623 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371381747 CA10547828 |
623 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA337241587 rs1039062529 |
624 | P>L | No |
ClinGen Ensembl |
|
|
rs199524794 CA10547831 |
625 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM206449 COSM206450 rs199524794 COSM206448 CA10547832 |
625 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10547830 COSM4107739 COSM4107741 rs782151825 COSM4107740 COSM4107738 |
625 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
rs149908812 CA10547833 |
627 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA415085834 rs1557012168 |
627 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10547834 rs782735370 |
628 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM1117363 CA10547835 rs144964812 COSM1117366 COSM1117362 COSM1117364 |
629 | D>N | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10547836 rs782125984 |
630 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782559125 CA10547837 |
630 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415085881 rs782125984 |
630 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 632 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1485866899 CA415085933 |
633 | K>N | No |
ClinGen TOPMed |
|
|
rs781896349 CA10547838 |
634 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557012226 CA415085950 |
635 | I>L | No |
ClinGen gnomAD |
|
|
rs782579777 CA10547840 |
635 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs781827206 COSM1117368 COSM1117371 CA10547841 COSM1117367 COSM1117369 |
636 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium skin [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA337241634 rs1042544082 |
637 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 638 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10547844 rs139853349 |
641 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782404794 CA10547845 |
642 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 644 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344012929 CA415086033 |
644 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs782329879 CA10547848 |
649 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA415086101 rs1359853432 |
650 | Y>C | No |
ClinGen TOPMed |
|
|
rs781963458 CA10547849 |
650 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA415086109 rs1302799610 |
651 | R>Q | No |
ClinGen TOPMed |
|
|
COSM3406100 COSM3406099 CA415086107 COSM3406101 COSM3406102 rs1438705735 |
651 | R>W | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 653 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10547850 rs782107116 |
656 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782393648 CA10547851 |
659 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM5366985 COSM5366987 COSM5366986 CA415086209 rs1428385982 COSM5366988 |
660 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs376277138 CA10547853 |
660 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1428385982 CA415086212 |
660 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 661 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782456914 CA10547854 |
662 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200802886 CA415086261 |
663 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782078554 CA10547856 |
664 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 666 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557012333 CA415086294 |
666 | E>K | No |
ClinGen gnomAD |
|
|
CA415086307 rs1557012339 |
667 | V>I | No |
ClinGen gnomAD |
|
|
CA10547858 rs781859748 |
668 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782752200 CA10547857 |
668 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219758740 CA415086392 |
674 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 676 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1315314 COSM1315313 COSM1315316 COSM1315315 |
683 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1026134252 CA337241726 |
684 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10547864 rs782226811 |
686 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA415072082 rs1557013296 |
687 | V>F | No |
ClinGen gnomAD |
|
|
COSM139259 rs1300677291 COSM139258 CA415072088 COSM139260 |
688 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1432541405 CA415072108 |
691 | I>L | No |
ClinGen TOPMed |
|
|
CA10547881 rs143426870 |
692 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA415072137 rs1557013316 |
695 | Q>L | No |
ClinGen gnomAD |
|
|
COSM4107744 COSM4107745 rs782459941 CA415072142 COSM4107743 COSM4107742 |
696 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
CA10547885 rs782459941 |
696 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10547883 rs782683285 |
696 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415072178 rs1557013327 |
702 | R>C | No |
ClinGen gnomAD |
|
|
RCV000996033 rs782587313 CA10547886 |
702 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM1557155 COSM6186174 CA415072209 COSM6186173 COSM6186172 COSM6186171 COSM1557158 COSM1557157 rs1603089313 COSM1557156 |
707 | D>Y | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic Ensembl |
|
CA415072253 rs1557013353 |
713 | R>Q | No |
ClinGen gnomAD |
|
|
COSM755799 COSM755801 COSM755802 COSM755800 |
713 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10547889 rs782009437 |
716 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs782009437 COSM1117377 COSM1117381 CA415072269 COSM1117379 COSM1117378 |
716 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM3843962 COSM3843961 COSM3843959 COSM3843960 |
717 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3559467 COSM3559466 CA10547891 COSM3559465 COSM3559468 rs782081961 |
720 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA415072321 rs1557013383 |
723 | Q>H | No |
ClinGen gnomAD |
|
|
rs1557013381 CA415072319 |
723 | Q>P | No |
ClinGen gnomAD |
|
|
rs781920920 CA10547892 |
724 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352079404 CA415072329 |
725 | G>E | No |
ClinGen TOPMed |
|
|
CA10547895 CA10547894 rs782748732 |
725 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10547896 rs144123627 |
726 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782796114 CA10547897 |
727 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1557013411 CA415072357 |
729 | L>P | No |
ClinGen gnomAD |
|
|
COSM4877502 COSM4877500 COSM4877499 COSM4877501 |
730 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA337211839 rs926474873 |
732 | E>* | No |
ClinGen Ensembl |
|
|
CA415072382 rs1557013418 |
733 | G>E | No |
ClinGen gnomAD |
|
|
rs782360934 CA10547898 |
734 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000996034 rs781815591 CA10547901 |
738 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA10547900 rs782700360 |
738 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337211858 COSM1117383 COSM1117384 COSM1117386 COSM1117382 rs199607295 |
739 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA gnomAD |
| TCGA novel | 740 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415072432 COSM1466518 COSM1466520 rs1215901845 COSM1466521 COSM1466519 |
741 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs782648942 CA10547903 |
741 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1117388 COSM1117391 COSM1117389 COSM1117387 |
742 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10547905 rs782543638 |
743 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA337211865 rs140919016 |
745 | G>A | No |
ClinGen ESP |
|
|
rs111453122 CA337211871 |
746 | E>G | No |
ClinGen Ensembl |
|
|
rs782691057 CA10547906 |
746 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415072486 rs1301738420 |
747 | I>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 749 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557013543 CA415072500 |
749 | Q>K | No |
ClinGen gnomAD |
|
|
rs1557013548 CA415072511 |
750 | E>V | No |
ClinGen gnomAD |
|
|
rs782550835 CA337211944 |
751 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA415072515 rs782550835 |
751 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10547928 rs782655482 |
751 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA10547929 rs782271589 |
753 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1557013587 CA415072540 |
755 | V>G | No |
ClinGen gnomAD |
|
|
rs782432226 CA10547931 |
755 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs782432226 CA10547930 |
755 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA415072544 rs1557013593 |
756 | W>* | No |
ClinGen gnomAD |
|
|
RCV000523289 CA337211958 rs1053368023 |
757 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1557013612 CA415072578 |
761 | V>A | No |
ClinGen gnomAD |
|
|
rs1557013612 CA415072579 |
761 | V>G | No |
ClinGen gnomAD |
|
|
rs782335545 CA10547933 |
761 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415072595 rs1557013622 |
764 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1557013618 CA415072592 |
764 | R>W | No |
ClinGen gnomAD |
|
|
CA415072600 rs1557013632 |
765 | S>W | No |
ClinGen gnomAD |
|
|
CA10547936 rs782390562 |
769 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1009252448 CA337211967 |
771 | H>R | No |
ClinGen gnomAD |
|
|
rs1603090621 RCV000856694 CA415072643 |
772 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA16608724 RCV000428917 rs1057521610 |
772 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA10547937 rs372585557 |
773 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557013672 CA415072651 |
774 | V>I | No |
ClinGen gnomAD |
|
|
rs782646851 CA10547954 |
779 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 780 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337212121 rs868983941 |
780 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 781 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782439615 CA10547956 |
783 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA415072745 rs201426629 |
786 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10547957 rs201426629 |
786 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782223358 CA337212126 |
786 | R>W | No |
ClinGen Ensembl |
|
| TCGA novel | 787 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10547959 rs782338651 |
788 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA415072755 rs1557013987 |
788 | V>M | No |
ClinGen gnomAD |
|
|
CA10547961 rs782120481 |
789 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs868951244 CA415072787 |
793 | G>W | No |
ClinGen Ensembl |
|
|
COSM1466523 COSM1466522 COSM1466524 COSM1466525 |
795 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1557014020 CA415072827 |
799 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 800 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557014022 CA415072834 |
800 | P>S | No |
ClinGen gnomAD |
|
|
RCV000493460 rs1131691269 CA415072865 |
804 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415072870 rs1057522147 |
805 | A>E | No |
ClinGen gnomAD |
|
|
RCV000420729 rs1057522147 CA16608762 |
805 | A>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA10547968 rs782757603 |
810 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10547990 rs375216567 |
814 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782503234 CA10547993 |
817 | D>N | No |
ClinGen ExAC |
|
|
CA10547994 rs782632247 |
818 | V>M | No |
ClinGen ExAC gnomAD |
|
|
COSM1117398 COSM1117397 COSM1117399 COSM1117401 |
819 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 821 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10547995 rs781876929 |
822 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA415073474 COSM3424596 COSM3424598 COSM3424597 COSM3424595 rs1467233293 |
824 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
rs1240230690 CA415073502 |
828 | T>S | No |
ClinGen TOPMed |
|
|
COSM5186265 CA10547997 rs141644369 |
829 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM4107754 COSM4107757 COSM4107756 rs1221371446 COSM4107755 CA415073560 |
836 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs1557014721 CA415073589 |
840 | M>L | No |
ClinGen gnomAD |
|
|
rs147099080 CA10547999 |
840 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA337212540 rs931050005 |
841 | W>* | No |
ClinGen Ensembl |
|
|
CA415073604 rs1557014736 |
842 | G>C | No |
ClinGen gnomAD |
|
|
CA10548001 rs200820256 |
845 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 846 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 847 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 847 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1466528 COSM1466529 COSM1466526 COSM1466527 |
854 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 863 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557014776 CA415073760 |
864 | V>A | No |
ClinGen gnomAD |
|
|
rs781935902 CA10548006 |
865 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415073767 rs1557014796 |
866 | V>M | No |
ClinGen gnomAD |
|
|
rs1557014803 CA415073773 |
867 | A>T | No |
ClinGen gnomAD |
|
|
COSM5412281 COSM5412279 COSM5412280 COSM5412282 |
867 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4107761 COSM4107760 COSM4107758 COSM4107759 |
870 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs782755399 CA10548008 |
871 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10548009 rs782067627 |
873 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs945968594 CA337212579 |
874 | T>S | No |
ClinGen TOPMed |
|
|
CA415073851 rs1207372412 |
876 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 876 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM6118180 COSM6118183 COSM6118182 COSM6118181 |
882 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs200009523 COSM3235548 COSM3235547 CA10548025 COSM3235546 COSM3235545 |
882 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD |
|
TCGA novel CA415073943 rs1284497748 |
889 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
| TCGA novel | 892 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4838352 COSM4838354 COSM4838351 COSM4838353 |
897 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 899 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 900 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348321658 CA415074020 |
901 | T>M | No |
ClinGen TOPMed |
|
|
CA415074036 rs1557015399 |
904 | P>T | No |
ClinGen gnomAD |
|
|
CA415074061 rs1301057285 COSM1245734 COSM1245733 COSM1245736 COSM1245735 |
907 | S>L | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
CA415074057 rs1354715365 |
907 | S>P | No |
ClinGen TOPMed |
|
|
rs1160033001 CA415074081 |
911 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1557015441 COSM1466536 COSM1466535 CA415074093 COSM1466537 COSM1466534 |
913 | P>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 915 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM300400 COSM300401 COSM300399 COSM300398 |
915 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10548032 rs782760804 |
915 | G>S | No |
ClinGen ExAC gnomAD |
|
|
COSM390944 rs781869837 COSM390946 COSM390945 COSM390947 CA10548033 |
916 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1557015474 COSM206456 COSM206455 COSM5087403 CA415074111 COSM206454 |
916 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs782817367 CA10548035 |
917 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781793743 CA10548036 |
919 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs782457643 CA415074133 |
919 | P>H | No |
ClinGen gnomAD |
|
|
rs782457643 CA415074132 |
919 | P>L | No |
ClinGen gnomAD |
|
|
CA415074142 rs1256059107 |
921 | I>F | No |
ClinGen TOPMed |
|
|
CA10548037 rs141643926 |
923 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201753621 COSM3235557 COSM3235559 COSM3235560 COSM3235558 CA10548038 |
923 | R>H | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201753621 CA415074156 |
923 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201753621 CA415074155 |
923 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415074153 rs141643926 |
923 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782230669 CA10548039 |
924 | T>N | No |
ClinGen ExAC gnomAD |
|
|
COSM3559476 COSM3559473 COSM3559475 COSM3559474 |
925 | M>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 927 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782511452 CA10548040 |
928 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs376398205 CA10548044 |
933 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10548045 rs782150935 |
934 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10548047 rs781981776 |
938 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10548046 rs201639064 |
938 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782760482 CA10548049 |
942 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10548051 rs369243201 |
946 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370982310 CA10548071 |
949 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 951 | F>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782056910 CA10548074 |
952 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs150508362 CA415074356 |
952 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10548073 rs150508362 |
952 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415074363 rs1168494832 |
953 | I>V | No |
ClinGen TOPMed |
|
|
CA337213192 rs924205905 |
954 | D>N | No |
ClinGen gnomAD |
|
|
CA415074379 rs1450158740 |
955 | S>N | No |
ClinGen TOPMed |
|
|
CA415074386 rs1557015903 |
956 | G>W | No |
ClinGen gnomAD |
|
|
rs782488590 CA10548077 |
958 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10548078 COSM755791 rs782653125 COSM755792 COSM755794 COSM755793 |
959 | A>V | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 963 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557015924 CA415074475 |
965 | P>S | No |
ClinGen gnomAD |
|
|
rs781796492 CA10548082 |
971 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 973 | F>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415074609 rs1557015933 |
974 | N>T | No |
ClinGen gnomAD |
|
|
CA415074626 rs1340760256 |
976 | F>V | No |
ClinGen TOPMed |
|
|
rs782620859 CA10548084 |
978 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10548085 rs782243512 |
981 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 984 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10548089 rs782166942 |
987 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415074809 rs782166942 |
987 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10548090 rs370079824 |
987 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201851726 CA337213229 |
992 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1166768623 CA415074895 |
993 | E>Q | No |
ClinGen TOPMed |
|
|
CA10548094 rs781863241 |
996 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA415074942 rs782715889 |
996 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782715889 COSM4664382 COSM4664379 COSM4664381 COSM4664380 CA10548093 |
996 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
CA10548096 rs782143371 |
997 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10548097 rs781787078 |
998 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs143225013 CA337213246 |
999 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs782732063 CA10548099 |
1000 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA415075000 rs1557016044 |
1000 | I>V | No |
ClinGen gnomAD |
|
|
rs1569535335 CA415075026 |
1001 | F>L | No |
ClinGen Ensembl |
|
|
rs782293771 CA415075029 |
1002 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782293771 CA10548100 |
1002 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1557016057 CA415075138 |
1008 | T>S | No |
ClinGen gnomAD |
|
|
CA10548101 rs782506527 |
1010 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557016071 CA415075169 |
1011 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 1012 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10548102 rs782651837 |
1013 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA337213255 COSM6118174 COSM6118172 COSM611768 rs181539158 COSM6118173 COSM6118175 COSM611770 COSM611769 COSM611767 |
1014 | F>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs782571816 CA10548104 |
1016 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1557016587 CA415076398 |
1020 | I>V | No |
ClinGen gnomAD |
|
|
CA10548120 rs781795852 |
1021 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1557016601 CA415076470 |
1023 | F>C | No |
ClinGen gnomAD |
|
|
CA415076524 rs1211748776 |
1027 | P>L | No |
ClinGen TOPMed |
|
|
CA415076541 rs1557016615 |
1029 | S>G | No |
ClinGen gnomAD |
|
|
rs1569535421 CA415076634 |
1035 | T>K | No |
ClinGen Ensembl |
|
| TCGA novel | 1036 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782241469 CA10548123 |
1039 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM457036 CA415076787 COSM457037 rs1557016627 COSM457039 COSM457038 |
1041 | C>Y | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 1042 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415076889 rs1557016639 |
1046 | V>I | No |
ClinGen gnomAD |
|
|
CA415076904 rs1603104997 |
1047 | G>R | No |
ClinGen Ensembl |
|
|
CA415076986 rs1557016649 |
1050 | V>A | No |
ClinGen gnomAD |
|
|
CA10548127 rs782310004 |
1050 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM457042 COSM457040 COSM457043 COSM457041 |
1053 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1224464353 CA415077364 |
1054 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10548143 rs782567031 |
1056 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1057 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415077569 rs868995068 |
1062 | Q>H | No |
ClinGen Ensembl |
|
|
rs1557017584 CA415077600 |
1064 | K>R | No |
ClinGen gnomAD |
|
|
CA415077668 rs1557017597 |
1068 | E>G | No |
ClinGen gnomAD |
|
|
CA337214074 rs1036959875 |
1070 | G>E | No |
ClinGen Ensembl |
|
|
CA10548145 rs782461133 |
1070 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1071 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1302738555 CA415077725 CA415077729 |
1072 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
| TCGA novel | 1073 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557017618 CA415077762 COSM5096060 |
1074 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs782583671 CA415077833 |
1076 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10548149 rs782666209 |
1077 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782299678 CA10548150 |
1078 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs199835911 CA10548152 |
1080 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782360314 CA415077951 |
1081 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782360314 CA10548154 |
1081 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1084 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372612153 CA337214098 |
1085 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA415078058 rs1557017660 |
1086 | G>D | No |
ClinGen gnomAD |
|
|
COSM1292956 CA337214102 rs897119876 COSM1292955 COSM1292954 COSM1292953 |
1087 | E>K | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
rs1242701343 CA415078102 |
1088 | E>G | No |
ClinGen TOPMed |
|
|
COSM2157107 COSM2157108 COSM2157106 COSM2157105 |
1088 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs782814925 CA10548157 |
1091 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868971762 CA415078194 |
1094 | E>* | No |
ClinGen TOPMed |
|
|
COSM1625669 COSM1625666 CA415078192 COSM1625667 COSM1625668 rs868971762 |
1094 | E>K | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
CA337214107 rs782067205 |
1095 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA415078218 rs1557017695 |
1095 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 1096 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415078262 rs1312425588 |
1098 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA415078270 rs868906106 |
1098 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 1101 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781839744 CA10548161 |
1101 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1557017720 CA415078408 |
1105 | F>L | No |
ClinGen gnomAD |
|
|
COSM1466545 COSM1466544 CA415078419 rs1557017728 COSM1466543 COSM1466542 |
1106 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
CA415078454 rs1557017734 |
1108 | L>P | No |
ClinGen gnomAD |
|
|
CA10548162 rs782643695 |
1110 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1364688584 CA415078498 |
1111 | I>V | No |
ClinGen TOPMed |
|
|
rs368215361 CA337214111 |
1113 | T>R | No |
ClinGen gnomAD |
|
|
rs1398786256 CA415078556 |
1114 | Q>R | No |
ClinGen TOPMed |
|
|
CA10548240 rs147050282 |
1116 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1603140118 CA415082745 |
1116 | R>W | No |
ClinGen Ensembl |
|
|
CA415082752 rs1557022258 |
1117 | V>L | No |
ClinGen gnomAD |
|
|
rs368275760 CA10548241 |
1120 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782589482 CA337219929 |
1122 | R>G | No |
ClinGen Ensembl |
|
|
rs142573189 CA10548243 COSM1117421 COSM1117422 COSM1117425 COSM1117423 |
1122 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| COSM5086388 | 1123 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs372310083 CA415082813 |
1124 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10548244 rs372310083 |
1124 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557022275 CA415082824 |
1126 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10548246 rs782508286 |
1128 | G>D | No |
ClinGen ExAC |
|
|
COSM1117426 COSM1117427 |
1129 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10548247 rs782558698 |
1130 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1557022296 CA415082866 |
1132 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1132 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1135 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557022311 CA415082905 |
1138 | I>T | No |
ClinGen gnomAD |
|
|
CA415082938 rs1335518201 |
1142 | M>I | No |
ClinGen TOPMed |
|
|
COSM5877349 COSM5877350 |
1143 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10548249 rs782443802 |
1144 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415082951 rs782443802 |
1144 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1146 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364282837 CA415082958 |
1146 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 1147 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337219977 rs376270541 |
1148 | L>M | No |
ClinGen ESP |
|
|
rs1557022345 CA415082975 |
1148 | L>Q | No |
ClinGen gnomAD |
|
|
rs1434826955 CA415083000 |
1151 | D>E | No |
ClinGen TOPMed |
|
|
rs1557022358 CA415083002 |
1152 | Y>H | No |
ClinGen gnomAD |
|
|
rs782211467 CA10548251 |
1153 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000424604 rs1057522613 CA16608296 |
1156 | I>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1569536326 CA415083041 |
1157 | P>L | No |
ClinGen Ensembl |
|
|
CA415083052 rs1462387207 |
1159 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs782631785 CA10548253 |
1160 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs782400729 CA10548255 |
1161 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA415083062 rs782400729 |
1161 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA415083085 rs1419783906 |
1164 | V>E | No |
ClinGen TOPMed |
|
|
rs1005616822 CA337220066 COSM1184065 COSM1184064 |
1164 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM1490635 COSM1490634 |
1166 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10548260 rs199650999 |
1166 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782153343 CA10548263 |
1168 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs782008053 COSM3235616 COSM3235617 CA10548262 |
1168 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs782683797 CA10548264 |
1169 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10548265 COSM3973426 COSM206472 rs368530977 |
1170 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10548266 rs111317380 |
1170 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10548267 rs111317380 |
1170 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10548268 rs781851504 |
1171 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs782518890 CA10548269 |
1172 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337220131 rs267606393 |
1172 | R>W | No |
ClinGen gnomAD |
|
|
CA10548274 rs149428057 |
1173 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA415083143 rs1569536335 |
1173 | A>T | No |
ClinGen Ensembl |
|
|
rs1340340303 CA415083154 |
1174 | P>T | No |
ClinGen TOPMed |
|
|
rs1306016972 CA415083165 |
1175 | P>A | No |
ClinGen TOPMed |
|
|
rs782212787 CA10548276 |
1175 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415083167 rs782212787 |
1175 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782513834 COSM1466549 COSM1466550 |
1175 | P>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
CA10548279 rs782268203 |
1176 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM3559485 COSM3559486 |
1177 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA415083196 rs371663081 |
1178 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782054473 CA10548283 |
1178 | S>P | No |
ClinGen ExAC TOPMed |
|
|
CA10548284 RCV000431881 rs371663081 |
1178 | S>Y | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1396531907 CA415083208 |
1180 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA415083216 rs1557022488 |
1180 | N>T | No |
ClinGen gnomAD |
|
|
CA415083229 rs1432395107 |
1181 | Q>L | No |
ClinGen TOPMed |
|
|
rs782774793 CA10548288 |
1183 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA415083273 rs1557022509 |
1185 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1185 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1187 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782699499 CA10548292 |
1188 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782466704 CA10548294 |
1189 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10548295 RCV000886464 rs782246277 |
1189 | G>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs782466704 COSM4107772 COSM4107773 CA10548293 |
1189 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs782536019 COSM3424599 CA10548296 COSM3424600 |
1194 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA415083436 rs1282740743 |
1195 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1282740743 CA415083437 |
1195 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10548299 rs782319100 |
1198 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs782221144 CA10548301 |
1202 | S>F | No |
ClinGen ExAC gnomAD |
|
|
COSM5916927 COSM5916926 rs1226016643 CA415083653 |
1206 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed |
| TCGA novel | 1208 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781999260 CA415083691 |
1208 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781999260 CA10548303 |
1208 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000597253 CA10548305 rs200805504 |
1209 | P>H | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs782028460 CA10548304 |
1209 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782068233 CA10548307 |
1210 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1117429 COSM1117428 |
1213 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000996037 CA415083832 rs1557022577 |
1216 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1557022577 CA10548308 COSM86826 |
1216 | V>M | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
|
rs782730090 CA10548310 |
1218 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA415083922 rs868910751 |
1220 | L>P | No |
ClinGen Ensembl |
1 associated diseases with Q16720
[MIM: 302500]: Spinocerebellar ataxia, X-linked 1 (SCAX1)
Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAX1 is characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAX1 is characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia. . Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 7.2.2.10 | Linked to the hydrolysis of a nucleoside triphosphate |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR24093 | CATION TRANSPORTING ATPASE |
| PANTHER Subfamily | PTHR24093:SF284 | PLASMA MEMBRANE CALCIUM-TRANSPORTING ATPASE 3 |
| PANTHER Protein Class |
primary active transporter
transporter |
|
| PANTHER Pathway Category | No pathway information available | |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular vesicle | Any vesicle that is part of the extracellular region. |
| GABA-ergic synapse | A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| parallel fiber | A parallel fiber results from the bifurcation of a cerebellar granule cell axon in the molecular layer into two diametrically opposed branches, that are oriented parallel to the long axis of the folium. |
| parallel fiber to Purkinje cell synapse | An excitatory synapse formed by the parallel fibers of granule cells synapsing onto the dendrites of Purkinje cells. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynaptic membrane | A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction |
| calcium ion transmembrane transporter activity | Enables the transfer of calcium (Ca) ions from one side of a membrane to the other. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| metal ion binding | Binding to a metal ion. |
| P-type calcium transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction |
| P-type calcium transporter activity involved in regulation of presynaptic cytosolic calcium ion concentration | A calcium-transporting P-type ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration. |
| PDZ domain binding | Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium ion export across plasma membrane | The directed movement of calcium ions from inside of a cell, across the plasma membrane and into the extracellular region. |
| monoatomic ion transmembrane transport | A process in which a monoatomic ion is transported across a membrane. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. |
| regulation of cardiac conduction | Any process that modulates the frequency, rate or extent of cardiac conduction. |
| regulation of cytosolic calcium ion concentration | Any process involved in the maintenance of an internal steady state of calcium ions within the cytosol of a cell or between the cytosol and its surroundings. |
31 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P38929 | PMC1 | Calcium-transporting ATPase 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| D3K0R6 | ATP2B4 | Plasma membrane calcium-transporting ATPase 4 | Bos taurus (Bovine) | SS |
| P23634 | ATP2B4 | Plasma membrane calcium-transporting ATPase 4 | Homo sapiens (Human) | EV |
| P20020 | ATP2B1 | Plasma membrane calcium-transporting ATPase 1 | Homo sapiens (Human) | SS |
| Q01814 | ATP2B2 | Plasma membrane calcium-transporting ATPase 2 | Homo sapiens (Human) | SS |
| G5E829 | Atp2b1 | Plasma membrane calcium-transporting ATPase 1 | Mus musculus (Mouse) | SS |
| Q6Q477 | Atp2b4 | Plasma membrane calcium-transporting ATPase 4 | Mus musculus (Mouse) | SS |
| Q9R0K7 | Atp2b2 | Plasma membrane calcium-transporting ATPase 2 | Mus musculus (Mouse) | SS |
| P23220 | ATP2B1 | Plasma membrane calcium-transporting ATPase 1 | Sus scrofa (Pig) | SS |
| Q64542 | Atp2b4 | Plasma membrane calcium-transporting ATPase 4 | Rattus norvegicus (Rat) | SS |
| P11505 | Atp2b1 | Plasma membrane calcium-transporting ATPase 1 | Rattus norvegicus (Rat) | SS |
| P11506 | Atp2b2 | Plasma membrane calcium-transporting ATPase 2 | Rattus norvegicus (Rat) | SS |
| Q64568 | Atp2b3 | Plasma membrane calcium-transporting ATPase 3 | Rattus norvegicus (Rat) | SS |
| Q2QMX9 | ACA10 | Calcium-transporting ATPase 10, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q2QY12 | ACA9 | Probable calcium-transporting ATPase 9, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q6ATV4 | ACA3 | Calcium-transporting ATPase 3, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q7X8B5 | ACA5 | Calcium-transporting ATPase 5, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q7XEK4 | ACA7 | Calcium-transporting ATPase 7, plasma membrane-type | Oryza sativa subsp japonica (Rice) | EV |
| Q8RUN1 | ACA1 | Calcium-transporting ATPase 1, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q65X71 | ACA6 | Probable calcium-transporting ATPase 6, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q2RAS0 | ACA8 | Probable calcium-transporting ATPase 8, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q9LY77 | ACA12 | Calcium-transporting ATPase 12, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9SZR1 | ACA10 | Calcium-transporting ATPase 10, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| O81108 | ACA2 | Calcium-transporting ATPase 2, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | EV |
| O22218 | ACA4 | Calcium-transporting ATPase 4, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9LF79 | ACA8 | Calcium-transporting ATPase 8, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | EV |
| Q9LU41 | ACA9 | Calcium-transporting ATPase 9, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9M2L4 | ACA11 | Putative calcium-transporting ATPase 11, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| O64806 | ACA7 | Putative calcium-transporting ATPase 7, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9LIK7 | ACA13 | Putative calcium-transporting ATPase 13, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q37145 | ACA1 | Calcium-transporting ATPase 1 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGDMANSSIE | FHPKPQQQRD | VPQAGGFGCT | LAELRTLMEL | RGAEALQKIE | EAYGDVSGLC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RRLKTSPTEG | LADNTNDLEK | RRQIYGQNFI | PPKQPKTFLQ | LVWEALQDVT | LIILEVAAIV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SLGLSFYAPP | GEESEACGNV | SGGAEDEGEA | EAGWIEGAAI | LLSVICVVLV | TAFNDWSKEK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QFRGLQSRIE | QEQKFTVIRN | GQLLQVPVAA | LVVGDIAQVK | YGDLLPADGV | LIQANDLKID |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ESSLTGESDH | VRKSADKDPM | LLSGTHVMEG | SGRMVVTAVG | VNSQTGIIFT | LLGAGGEEEE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KKDKKGKQQD | GAMESSQTKA | KKQDGAVAME | MQPLKSAEGG | EMEEREKKKA | NAPKKEKSVL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QGKLTKLAVQ | IGKAGLVMSA | ITVIILVLYF | VIETFVVEGR | TWLAECTPVY | VQYFVKFFII |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GVTVLVVAVP | EGLPLAVTIS | LAYSVKKMMK | DNNLVRHLDA | CETMGNATAI | CSDKTGTLTT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NRMTVVQSYL | GDTHYKEIPA | PSALTPKILD | LLVHAISINS | AYTTKILPPE | KEGALPRQVG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NKTECALLGF | VLDLKRDFQP | VREQIPEDKL | YKVYTFNSVR | KSMSTVIRMP | DGGFRLFSKG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ASEILLKKCT | NILNSNGELR | GFRPRDRDDM | VRKIIEPMAC | DGLRTICIAY | RDFSAGQEPD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| WDNENEVVGD | LTCIAVVGIE | DPVRPEVPEA | IRKCQRAGIT | VRMVTGDNIN | TARAIAAKCG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| IIQPGEDFLC | LEGKEFNRRI | RNEKGEIEQE | RLDKVWPKLR | VLARSSPTDK | HTLVKGIIDS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TTGEQRQVVA | VTGDGTNDGP | ALKKADVGFA | MGIAGTDVAK | EASDIILTDD | NFTSIVKAVM |
| 850 | 860 | 870 | 880 | 890 | 900 |
| WGRNVYDSIS | KFLQFQLTVN | VVAVIVAFTG | ACITQDSPLK | AVQMLWVNLI | MDTFASLALA |
| 910 | 920 | 930 | 940 | 950 | 960 |
| TEPPTESLLL | RKPYGRDKPL | ISRTMMKNIL | GHAVYQLAII | FTLLFVGELF | FDIDSGRNAP |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LHSPPSEHYT | IIFNTFVMMQ | LFNEINARKI | HGERNVFDGI | FSNPIFCTIV | LGTFGIQIVI |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| VQFGGKPFSC | SPLSTEQWLW | CLFVGVGELV | WGQVIATIPT | SQLKCLKEAG | HGPGKDEMTD |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| EELAEGEEEI | DHAERELRRG | QILWFRGLNR | IQTQIRVVKA | FRSSLYEGLE | KPESKTSIHN |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| FMATPEFLIN | DYTHNIPLID | DTDVDENEER | LRAPPPPSPN | QNNNAIDSGI | YLTTHVTKSA |
| 1210 | |||||
| TSSVFSSSPG | SPLHSVETSL |