Q6MZZ7
PR
Gene name |
CAPN13 |
Protein name |
Calpain-13 |
Names |
Calcium-activated neutral proteinase 13, CANP 13 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:92291 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q6MZZ7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2I7A | X-ray | 180 A | A | 515-669 | PDB |
| AF-Q6MZZ7-F1 | Predicted | AlphaFoldDB |
648 variants for Q6MZZ7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1596588 rs201284844 |
2 | A>V | Variant assessed as Somatic; 4.685e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346487803 rs1572872440 |
4 | Y>C | No |
ClinGen Ensembl |
|
|
rs113799528 CA346487785 |
6 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747810444 CA1596585 |
7 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780731866 CA1596584 |
7 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs747810444 CA346487782 |
7 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768091357 CA1596583 |
8 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA346487770 rs1572872381 |
9 | V>A | No |
ClinGen Ensembl |
|
|
rs1357436125 CA346487766 |
10 | E>* | No |
ClinGen gnomAD |
|
|
CA44715699 rs985438406 |
11 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1596580 rs771867886 |
12 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596579 rs369605199 |
13 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1596578 rs778915813 |
14 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326367226 CA346487718 |
17 | K>R | No |
ClinGen gnomAD |
|
|
rs754158764 CA1596576 |
18 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764412221 CA1596575 |
19 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs186665118 CA1596574 |
20 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1558340192 CA346487700 |
20 | D>Y | No |
ClinGen Ensembl |
|
|
CA1596572 rs767847976 |
22 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1596571 rs760103981 |
22 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346487676 rs1448786148 |
23 | T>I | No |
ClinGen gnomAD |
|
|
rs776108151 CA1596567 |
24 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs202194043 COSM1020073 CA1596564 |
25 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs746445685 CA1596565 |
25 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs868453676 CA44715560 |
26 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1339294833 CA346487662 |
26 | D>V | No |
ClinGen gnomAD |
|
|
CA346487654 rs1261675309 |
27 | H>L | No |
ClinGen TOPMed |
|
|
rs1338138106 CA346487646 |
28 | C>F | No |
ClinGen gnomAD |
|
|
CA1596558 rs777803907 |
30 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1409206785 CA346487626 |
31 | M>I | No |
ClinGen gnomAD |
|
|
CA1596556 rs752718146 |
31 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs756367275 CA1596557 |
31 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1182841214 CA346487622 |
32 | G>D | No |
ClinGen TOPMed |
|
|
CA1596555 rs767643739 |
32 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1596553 rs370626547 |
33 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1596554 rs755456873 |
33 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA1596552 rs368344942 |
34 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1558339968 CA346487607 |
35 | F>S | No |
ClinGen Ensembl |
|
|
CA346487583 rs1254319729 |
38 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 38 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 39 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1596550 rs773638218 |
40 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1596548 rs760439805 |
44 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1230466145 CA346487536 |
45 | S>Y | No |
ClinGen gnomAD |
|
|
CA1596546 rs200978819 |
47 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1465612536 CA346487521 |
48 | G>C | No |
ClinGen gnomAD |
|
|
CA1596544 rs555164868 |
48 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1596543 rs771009234 |
49 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297441812 CA346487515 |
49 | Q>R | No |
ClinGen TOPMed |
|
|
CA1596542 rs748972295 |
50 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 51 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325298008 CA346487497 |
52 | L>F | No |
ClinGen gnomAD |
|
|
rs1403472230 CA346487495 |
52 | L>P | No |
ClinGen gnomAD |
|
|
CA1596540 rs756279873 |
53 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA1596539 rs535176898 |
54 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1596536 COSM1199514 rs370459102 |
56 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP TOPMed gnomAD |
|
CA1596535 rs150413415 |
56 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150413415 CA346487468 |
56 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346487465 rs1226252834 |
57 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 57 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1596534 rs755011156 |
59 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs751660208 CA346487452 |
59 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751660208 CA1596533 |
59 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346487439 rs1572871875 |
61 | I>T | No |
ClinGen Ensembl |
|
|
rs200365307 CA346487431 |
62 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200365307 CA1596531 |
62 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1596532 rs572596980 |
62 | W>R | No |
ClinGen ExAC |
|
|
CA346487419 rs370539000 |
64 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370539000 CA1596529 |
64 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1596530 rs750746660 |
64 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA44715273 rs377693321 |
65 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA346487416 rs1208776768 |
65 | P>S | Variant assessed as Somatic; 5.741e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1285939862 CA346487409 |
66 | Q>R | No |
ClinGen gnomAD |
|
|
rs904625989 CA44707028 |
67 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA44707017 rs918149380 |
68 | L>V | No |
ClinGen Ensembl |
|
|
rs553262545 CA1596504 |
71 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762769811 CA1596503 |
73 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1596502 rs773161614 |
74 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1596501 rs376296265 |
75 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761610827 CA346487328 |
78 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs761610827 CA1596500 |
78 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA346487320 rs1396566505 |
79 | D>H | No |
ClinGen gnomAD |
|
|
rs1379923277 CA346487316 |
79 | D>V | No |
ClinGen gnomAD |
|
|
CA346487307 rs1304673913 |
80 | I>M | No |
ClinGen gnomAD |
|
|
CA346487305 rs1413093451 |
81 | S>G | No |
ClinGen gnomAD |
|
|
rs1375142612 CA346487303 |
81 | S>N | No |
ClinGen gnomAD |
|
|
rs1309006884 CA346487298 |
82 | R>G | No |
ClinGen gnomAD |
|
|
rs1432070578 CA346487294 |
82 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1432070578 CA346487296 |
82 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA44706962 rs865832803 |
88 | G>E | No |
ClinGen Ensembl |
|
|
rs1170315822 CA346487245 |
89 | G>C | No |
ClinGen gnomAD |
|
|
rs1170315822 CA346487247 |
89 | G>S | No |
ClinGen gnomAD |
|
|
CA1596498 rs768860698 |
89 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596496 rs780083368 |
90 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346487242 rs780083368 |
90 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44706894 rs571015176 |
90 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA346487238 rs1252149307 |
91 | A>T | No |
ClinGen gnomAD |
|
|
rs745897253 CA1596475 |
95 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1596473 rs771458397 |
96 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs778253507 CA1596471 |
101 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346487148 rs1192193003 |
103 | T>A | No |
ClinGen gnomAD |
|
|
rs748545670 CA1596468 |
109 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1596467 rs776290359 |
110 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 113 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1596466 rs757990075 |
114 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA346487069 rs1465304423 |
114 | M>K | No |
ClinGen gnomAD |
|
|
CA346487072 rs1228964717 |
114 | M>V | No |
ClinGen TOPMed |
|
|
rs1207027861 CA346487064 |
115 | V>I | No |
ClinGen gnomAD |
|
|
rs1260399421 CA346487043 |
117 | S>R | No |
ClinGen gnomAD |
|
|
rs1234277715 CA346487033 |
119 | S>P | No |
ClinGen gnomAD |
|
|
CA1596464 rs764710395 |
120 | H>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776005882 CA44705095 |
120 | H>Y | No |
ClinGen gnomAD |
|
|
CA1596463 rs757163085 |
122 | Y>F | No |
ClinGen ExAC |
|
|
CA346487004 rs1440727609 |
123 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA346487002 rs1440727609 |
123 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753810774 CA1596462 |
124 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380078563 CA346486985 |
126 | F>S | No |
ClinGen gnomAD |
|
|
rs368030414 CA1596461 |
127 | R>C | No |
ClinGen ESP ExAC TOPMed |
|
|
CA1596460 rs572384133 |
127 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202118896 CA44705013 |
129 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202118896 CA1596457 |
129 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1596458 rs767779434 |
129 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596432 rs777028941 |
131 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596431 rs200944264 |
132 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346486927 rs1292243076 |
133 | C>* | No |
ClinGen gnomAD |
|
|
rs922616737 CA44699733 |
133 | C>S | No |
ClinGen TOPMed |
|
|
rs1402096682 CA346486930 |
133 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 136 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572849237 CA346486897 |
137 | V>G | No |
ClinGen Ensembl |
|
|
rs1426303657 CA346486900 |
137 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201908854 CA1596428 |
140 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201908854 CA1596429 |
140 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777325764 CA1596426 |
141 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752620159 CA1596425 |
143 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1596423 rs199637269 |
144 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1596421 rs374775173 COSM1407696 |
144 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374775173 CA1596422 |
144 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1596420 rs763334134 |
145 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1195477930 CA346486844 |
147 | V>F | No |
ClinGen TOPMed |
|
|
rs1234898102 CA346486837 |
148 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 148 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437749362 CA346486815 |
151 | K>E | No |
ClinGen gnomAD |
|
|
rs1291289949 CA346486802 |
152 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA346486798 rs1216126935 |
153 | L>F | No |
ClinGen gnomAD |
|
|
CA346486799 rs1216126935 |
153 | L>V | No |
ClinGen gnomAD |
|
|
rs1228564212 CA346486788 |
154 | F>L | No |
ClinGen gnomAD |
|
|
CA1596415 rs762348286 |
154 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs776962302 CA1596414 |
155 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1596413 rs769225286 |
156 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs376824805 CA1596412 |
156 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1596410 rs770560180 |
157 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596409 rs748992413 |
158 | R>C | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1596408 rs200822198 |
158 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769149921 CA1596406 |
160 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769149921 CA346486758 |
160 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469906412 CA346486710 |
166 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1469906412 CA346486708 |
166 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA346486713 rs1175830450 |
166 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs977815506 CA346486703 |
167 | C>F | No |
ClinGen TOPMed |
|
|
rs977815506 CA44699592 |
167 | C>S | No |
ClinGen TOPMed |
|
|
CA346486698 rs1254058403 |
168 | L>P | No |
ClinGen gnomAD |
|
|
rs966316262 CA44699570 |
168 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 170 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1596403 rs780935684 |
172 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1357090057 CA346486652 |
175 | K>R | No |
ClinGen TOPMed |
|
|
rs370470261 CA1596380 |
178 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200327194 CA1596377 |
182 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1596378 rs200327194 |
182 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756549997 CA1596376 |
183 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346486587 rs1394877979 |
184 | H>R | No |
ClinGen gnomAD |
|
|
rs768038578 CA1596374 |
184 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA44694062 COSM1130801 rs893474111 |
185 | Y>C | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA346486574 rs1171686520 |
186 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs749405991 CA44694055 |
186 | G>R | No |
ClinGen Ensembl |
|
|
CA346486572 rs1171686520 |
186 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA44694043 rs1019603761 |
189 | E>D | No |
ClinGen Ensembl |
|
|
COSM3748736 rs774702807 CA1596371 |
189 | E>K | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 190 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761586224 CA1596370 |
191 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs761586224 CA1596369 |
191 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346486536 rs1259225973 |
192 | L>P | No |
ClinGen gnomAD |
|
|
rs377374907 CA44693988 |
192 | L>V | No |
ClinGen ESP |
|
|
rs1208431255 CA346486535 |
193 | V>M | No |
ClinGen gnomAD |
|
|
rs372734949 CA1596367 |
194 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346486520 rs1391799892 |
195 | L>F | No |
ClinGen TOPMed |
|
|
CA346486522 rs1391799892 |
195 | L>V | No |
ClinGen TOPMed |
|
|
rs746548636 CA1596366 |
196 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 197 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1596365 rs775518365 |
197 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs536128767 CA346486499 |
199 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1596363 rs536128767 |
199 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1295298586 CA346486491 |
200 | I>T | No |
ClinGen gnomAD |
|
|
rs778833317 CA1596362 |
201 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44693966 rs778833317 |
201 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375149941 CA346486486 |
201 | T>S | No |
ClinGen gnomAD |
|
|
rs1299111569 CA346486483 |
202 | N>D | No |
ClinGen gnomAD |
|
|
CA346486480 rs1463965443 |
202 | N>S | No |
ClinGen gnomAD |
|
|
COSM4164507 rs1461549868 CA346486467 |
204 | H>Y | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs777890278 CA1596359 |
205 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1327105 CA44693949 rs758394541 |
206 | H>Q | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA346486446 rs1558320437 |
207 | S>F | No |
ClinGen Ensembl |
|
|
rs756141668 CA1596358 |
207 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767946543 CA1596356 |
208 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs755546217 CA1596355 |
209 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1596352 rs751858084 |
211 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596350 rs553760647 |
213 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776304293 CA1596348 |
214 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346486408 rs1371776929 |
214 | K>R | No |
ClinGen gnomAD |
|
|
CA1596347 rs372495959 |
215 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395967483 CA346486401 |
215 | A>V | No |
ClinGen gnomAD |
|
|
rs1460593249 CA346486388 |
217 | K>N | No |
ClinGen gnomAD |
|
|
rs145281928 CA1596346 |
219 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145281928 CA1596345 |
219 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1596343 rs759601763 |
221 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1572840297 CA346486367 |
221 | K>T | No |
ClinGen Ensembl |
|
|
rs1572840290 CA346486354 |
223 | G>V | No |
ClinGen Ensembl |
|
|
rs777772415 CA44693808 |
224 | S>P | No |
ClinGen gnomAD |
|
|
rs758356042 CA1596342 |
226 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1596341 rs770722391 |
227 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs867121758 CA44693780 |
229 | A>V | No |
ClinGen Ensembl |
|
|
rs373980456 CA1596340 |
230 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346486313 rs373980456 |
230 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1596339 rs777997513 |
233 | G>A | No |
ClinGen ExAC |
|
|
rs1211972938 CA346486298 CA346486297 |
233 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1373414740 CA346486281 |
234 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1373414740 CA346486283 |
234 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA346486273 rs892479510 |
235 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA346486274 rs892479510 |
235 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs892479510 CA44692830 |
235 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1373707773 CA346486270 |
236 | D>Y | No |
ClinGen gnomAD |
|
|
CA1596314 rs750792760 |
237 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA346486260 rs750792760 |
237 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs779474697 CA1596313 |
239 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1596312 rs139514952 |
239 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs946319949 CA44692792 |
240 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs201933766 CA1596311 |
240 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1054617758 CA44692759 |
241 | M>I | No |
ClinGen Ensembl |
|
|
CA1596308 rs371549970 |
242 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA346486217 rs1223180039 |
244 | G>E | No |
ClinGen gnomAD |
|
|
rs1461075337 CA346486213 |
245 | L>V | No |
ClinGen TOPMed |
|
|
rs1293472046 CA346486209 |
246 | V>M | No |
ClinGen gnomAD |
|
|
rs1374576 CA1596305 |
247 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44692741 rs986582298 |
249 | H>L | No |
ClinGen TOPMed |
|
|
rs17010210 CA1596304 VAR_028964 COSM148827 |
249 | H>Y | stomach [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA346486184 rs1398602406 |
250 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1451358093 CA346486159 |
253 | V>G | No |
ClinGen TOPMed |
|
|
CA346486164 rs1169705314 |
253 | V>M | No |
ClinGen gnomAD |
|
|
rs1188842339 CA346486149 |
255 | G>E | No |
ClinGen gnomAD |
|
|
rs768879251 CA1596300 |
256 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747042374 CA1596299 |
257 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596277 rs745973751 |
259 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 260 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA44682846 rs903572556 |
260 | Q>R | No |
ClinGen TOPMed |
|
|
rs1371722910 CA346486094 |
261 | Y>* | No |
ClinGen gnomAD |
|
|
CA1596276 rs774943394 |
262 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1199513 CA1596275 rs771573266 |
262 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 264 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571560428 CA44682824 |
264 | G>V | No |
ClinGen 1000Genomes |
|
|
rs746682809 CA1596271 |
265 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA44682811 rs946029200 |
266 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 268 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1596270 rs779788854 |
269 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779788854 CA44682809 |
269 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757795783 CA1596269 |
270 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1596268 rs749948607 |
272 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346486028 rs749948607 |
272 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765092556 CA1596267 |
273 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1245630208 CA346486014 |
274 | P>H | No |
ClinGen gnomAD |
|
|
rs1245630208 CA346486012 |
274 | P>L | No |
ClinGen gnomAD |
|
|
rs1238009296 CA346486016 |
274 | P>T | No |
ClinGen TOPMed |
|
|
rs537848823 CA1596266 |
275 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs537848823 CA1596265 |
275 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1201362252 CA346486002 |
276 | G>C | No |
ClinGen TOPMed |
|
|
CA346485991 rs1247346916 |
277 | W>C | No |
ClinGen TOPMed |
|
|
rs1448432319 CA346485997 |
277 | W>R | No |
ClinGen gnomAD |
|
|
rs1281877198 CA346485994 |
277 | W>S | No |
ClinGen gnomAD |
|
|
rs569402825 CA346485982 |
279 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1427063246 CA346485981 |
279 | E>A | No |
ClinGen TOPMed |
|
|
rs1305470695 CA346485977 |
279 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1596263 rs569402825 |
279 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs990140207 CA44682770 |
280 | A>D | No |
ClinGen Ensembl |
|
|
CA346485975 rs508405 |
280 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_028965 CA1596262 rs508405 |
280 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA346485970 rs774642902 |
281 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596259 rs774642902 |
281 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759626011 CA1596260 |
281 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346485963 rs1419434175 |
282 | W>* | Variant assessed as Somatic; 0.0001399 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1596258 CA44682728 rs771555028 |
282 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376480091 CA346485952 |
284 | G>R | No |
ClinGen gnomAD |
|
|
CA1596256 rs773595409 |
285 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765043713 COSM1020071 CA1596254 |
285 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs765043713 CA346485944 |
285 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596255 rs765043713 |
285 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346485926 rs1186668907 |
288 | D>N | No |
ClinGen gnomAD |
|
|
CA346485918 rs1476171008 |
289 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 290 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 294 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 294 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 295 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1596229 rs748850491 |
296 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA346485850 rs748850491 |
296 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1596228 rs777507466 |
297 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA44678605 rs927994133 |
298 | D>E | No |
ClinGen Ensembl |
|
|
rs754043302 CA44678613 |
298 | D>G | No |
ClinGen Ensembl |
|
|
COSM1020069 rs369616026 CA1596226 |
299 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1596227 rs369616026 |
299 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1596223 rs751792504 |
300 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs565060477 CA1596224 |
300 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 302 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162288786 CA346485805 |
304 | L>I | No |
ClinGen gnomAD |
|
|
rs1027993781 CA44678548 |
305 | H>Y | No |
ClinGen Ensembl |
|
|
CA1596220 rs372130291 |
308 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1596221 rs538889974 |
308 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346485764 rs1456433998 |
310 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA346485753 rs1236431219 |
311 | G>D | No |
ClinGen gnomAD |
|
|
rs1469057300 CA346485752 |
312 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1242921780 CA346485744 |
313 | F>L | No |
ClinGen gnomAD |
|
|
rs1262752487 CA346485718 |
314 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA346485711 rs1227202238 |
315 | M>I | No |
ClinGen TOPMed |
|
|
CA1596190 rs776656004 |
315 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA346485705 rs1316584552 |
316 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA346485703 rs1316584552 |
316 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 316 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346485685 rs1285774318 |
319 | D>Y | No |
ClinGen gnomAD |
|
|
CA1596188 rs746793788 |
320 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 320 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346485643 rs1272567146 |
324 | F>S | No |
ClinGen TOPMed |
|
|
rs370602522 CA1596186 |
326 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1596185 rs746138160 |
326 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346485610 rs1326531240 |
329 | I>V | No |
ClinGen gnomAD |
|
|
rs1041677723 CA44677268 |
330 | C>R | No |
ClinGen Ensembl |
|
|
rs1010251663 CA44677253 |
330 | C>Y | No |
ClinGen Ensembl |
|
|
rs368397722 CA1596184 |
331 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1596181 rs373913163 |
332 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1596182 rs373913163 |
332 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1596180 rs756673236 |
337 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1596179 rs753038476 |
338 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs767909947 CA346485540 |
340 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596178 rs767909947 |
340 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1596177 rs759849852 |
342 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1173023286 CA346485517 |
343 | L>R | No |
ClinGen gnomAD |
|
|
CA346485514 rs1262915983 |
344 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
COSM274376 rs542792832 CA1596175 |
345 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1596173 rs776345286 |
347 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA1596172 rs62142192 |
349 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346485478 rs1156493350 |
349 | Q>R | No |
ClinGen gnomAD |
|
|
rs760740473 CA1596171 |
350 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346485460 rs1316991941 CA346485462 |
351 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs775389575 CA1596170 |
351 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596168 rs745671756 |
353 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1044942085 CA44677150 |
356 | V>A | No |
ClinGen Ensembl |
|
|
CA346485427 rs1473323199 |
356 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA44677131 rs763926063 |
361 | T>A | No |
ClinGen TOPMed |
|
|
CA346485395 rs1391910216 |
361 | T>I | No |
ClinGen gnomAD |
|
|
rs749358669 CA1596165 |
362 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346485371 rs1572815433 |
363 | G>E | No |
ClinGen Ensembl |
|
|
rs748244216 CA1596145 |
364 | G>R | No |
ClinGen ExAC |
|
|
rs866646904 CA44675590 |
365 | P>H | No |
ClinGen TOPMed |
|
|
rs866646904 CA44675596 |
365 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1596143 rs182081324 |
366 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781678089 CA1596144 |
366 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1435852734 CA346485346 |
368 | D>A | No |
ClinGen TOPMed |
|
|
CA1596142 rs780328724 |
368 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756935226 CA1596140 |
370 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1223296999 CA346485317 |
372 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346485302 rs1338669021 |
374 | S>C | No |
ClinGen gnomAD |
|
|
CA346485293 rs1465735433 |
376 | Q>K | No |
ClinGen TOPMed |
|
|
CA1596137 rs552208992 |
377 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1596135 rs375378227 |
378 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371678034 CA44675464 |
379 | M>V | No |
ClinGen ESP TOPMed |
|
|
COSM1531755 CA44675462 rs866317100 |
380 | E>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs201335752 CA1596134 |
381 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201335752 CA346485255 |
381 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1596133 rs759442975 |
382 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 383 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1596132 rs375332401 |
383 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1420638628 CA346485235 |
385 | V>I | No |
ClinGen gnomAD |
|
|
rs770011599 CA346485228 |
386 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770011599 CA1596128 |
386 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1596126 rs200602450 |
388 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs549414350 CA44675369 |
393 | T>P | No |
ClinGen TOPMed |
|
|
rs1196811900 CA346485182 |
394 | P>S | No |
ClinGen TOPMed |
|
|
rs1245723760 CA346485161 |
397 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs747506933 CA1596124 |
399 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA346485125 rs1283642774 |
402 | A>T | No |
ClinGen gnomAD |
|
|
rs370249872 CA1596120 |
407 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370249872 CA1596119 |
407 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1596118 rs377435812 |
408 | F>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346485076 rs1397173745 |
409 | Q>P | No |
ClinGen Ensembl |
|
|
CA44675234 rs921343273 |
410 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs375975478 CA1596117 |
410 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346485059 rs1296809853 |
412 | L>V | No |
ClinGen gnomAD |
|
|
rs372257495 CA1596100 |
413 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44670232 rs1035623156 |
413 | A>V | No |
ClinGen Ensembl |
|
|
rs199664439 CA1596061 |
417 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201062209 CA1596063 |
417 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA1596059 rs768174907 |
419 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596058 rs768174907 |
419 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596060 rs368104197 |
419 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1448467274 CA346484975 |
422 | F>C | No |
ClinGen TOPMed |
|
|
CA346484971 rs1457836604 |
423 | P>T | No |
ClinGen gnomAD |
|
|
CA346484965 rs374768590 |
424 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1596057 rs374768590 |
424 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771518743 CA346484960 |
425 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596055 rs771518743 |
425 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596053 rs377694077 |
426 | F>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1596052 rs377694077 |
426 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346484956 rs377694077 |
426 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1596049 rs201525970 |
428 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
| rs1479139254 | 428 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1596050 rs749023212 |
428 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs374598820 CA346484934 |
429 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs374598820 CA44668351 |
429 | S>W | No |
ClinGen ESP gnomAD |
|
|
rs1333546552 CA346484925 |
431 | R>G | No |
ClinGen gnomAD |
|
|
CA1596046 rs767867553 |
431 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346484910 rs1572801576 |
433 | T>A | No |
ClinGen Ensembl |
|
|
rs755042744 CA1596045 |
433 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596044 rs751757530 |
434 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs766785918 CA1596043 |
435 | Q>E | No |
ClinGen ExAC |
|
|
CA346484898 rs1383873052 |
435 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs113891539 CA1596042 |
436 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346484890 rs113891539 |
436 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1439701491 CA346484879 |
438 | N>Y | No |
ClinGen gnomAD |
|
|
rs200153872 CA1596039 |
441 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1596038 rs140029412 CA346484853 |
441 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200153872 CA1596040 |
441 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775062145 CA1596037 |
442 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596036 COSM3372758 rs771712940 |
442 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1596035 rs565169959 COSM392978 |
443 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs773969358 CA1596034 COSM1020059 |
443 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM395971 CA346484845 rs773969358 |
443 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1596031 rs146046431 |
447 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749286523 CA1596032 |
447 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA346484812 rs1281712201 |
448 | T>I | No |
ClinGen TOPMed |
|
|
rs1281712201 CA346484810 |
448 | T>S | No |
ClinGen TOPMed |
|
|
rs183530235 CA1596030 |
450 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346484795 rs1364103116 |
450 | H>Q | No |
ClinGen gnomAD |
|
|
rs1324487447 CA346484799 |
450 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA346484793 rs1163438877 |
451 | L>V | No |
ClinGen gnomAD |
|
|
rs1420893449 CA346484783 |
452 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346484768 rs1309244155 |
455 | N>H | No |
ClinGen gnomAD |
|
|
rs1175014563 CA346484757 |
456 | Y>C | No |
ClinGen gnomAD |
|
|
CA1596028 rs376096002 |
457 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 457 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1596027 rs755312743 |
458 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 459 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372490936 CA1596025 |
463 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751671773 CA1596026 |
463 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777410396 CA44668229 |
464 | R>G | No |
ClinGen Ensembl |
|
|
CA346484703 rs1355820523 |
465 | K>N | No |
ClinGen gnomAD |
|
|
CA44668225 rs200218073 |
465 | K>Q | No |
ClinGen Ensembl |
|
|
rs80066698 CA1596022 |
467 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346484659 rs1438891666 |
472 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1596019 rs762095086 |
472 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761622375 CA1596018 |
474 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 476 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767142883 CA1596017 |
479 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148271074 CA1596016 |
480 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346484570 rs1572799543 |
483 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 485 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262702893 CA346484552 |
486 | S>G | No |
ClinGen gnomAD |
|
|
rs560584489 CA1595997 |
486 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1595996 rs765952749 |
486 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346484504 rs1286493296 |
492 | M>I | No |
ClinGen gnomAD |
|
|
CA1595993 rs769835029 |
492 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs764127658 CA1595973 |
495 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs942773700 CA44666899 |
496 | P>L | No |
ClinGen Ensembl |
|
|
CA346484448 rs1490954511 |
499 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 500 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 501 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs529599215 CA44666892 |
502 | Q>* | No |
ClinGen 1000Genomes TOPMed |
|
|
rs367755924 CA1595971 |
503 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772314695 CA1595970 |
504 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772314695 CA346484412 |
504 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746115123 CA1595969 |
505 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs75691612 CA1595968 |
506 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346484395 rs1301108089 |
507 | N>D | No |
ClinGen gnomAD |
|
|
rs1373773793 CA346484391 |
507 | N>S | No |
ClinGen TOPMed |
|
|
CA346484386 rs1391044979 |
508 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1404236039 CA531480219 |
509 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs1051096866 CA44666864 |
509 | Y>* | No |
ClinGen TOPMed |
|
|
CA1595967 rs371046550 |
510 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA44666858 rs371046550 |
510 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346484357 rs1300000400 |
512 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA346484336 rs1182587946 |
513 | R>S | No |
ClinGen gnomAD |
|
|
CA346484335 rs1007090386 |
514 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA346484310 rs1347499987 |
517 | D>V | No |
ClinGen TOPMed |
|
|
CA346484304 rs891325827 |
518 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA346484303 rs891325827 |
518 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA44664743 rs891325827 |
518 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1595943 rs747386499 |
519 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265889682 CA346484287 |
521 | L>F | No |
ClinGen gnomAD |
|
|
CA346484285 rs1248099728 |
521 | L>H | No |
ClinGen gnomAD |
|
|
rs1361665330 CA346484269 |
524 | L>I | No |
ClinGen gnomAD |
|
|
CA346484252 rs1452162778 |
526 | N>I | No |
ClinGen gnomAD |
|
|
rs1438428341 CA346484248 |
527 | Q>K | No |
ClinGen TOPMed |
|
|
CA1595941 rs780084903 |
528 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44664728 COSM229916 rs866528018 |
528 | E>K | NS Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1396239729 CA346484233 |
529 | L>F | No |
ClinGen gnomAD |
|
|
CA346484226 rs1164754341 |
530 | L>Q | No |
ClinGen gnomAD |
|
|
rs753373607 CA1595940 |
532 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753373607 CA346484217 |
532 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203578501 CA346484198 |
533 | P>L | No |
ClinGen gnomAD |
|
|
CA1595921 rs770673708 |
533 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1350299305 CA346484193 |
534 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA44664611 rs949929798 |
535 | G>W | No |
ClinGen TOPMed |
|
|
rs748907531 CA1595920 |
536 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283142588 CA346484175 |
537 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA346484177 rs1344032714 |
537 | M>V | No |
ClinGen gnomAD |
|
|
rs755521219 TCGA novel CA346484164 CA1595918 |
538 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA346484163 rs1346452549 |
539 | S>A | No |
ClinGen gnomAD |
|
|
CA346484152 rs780978906 |
540 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406303208 CA346484147 |
541 | D>G | No |
ClinGen gnomAD |
|
|
rs769831293 CA44664575 |
542 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs558727209 CA1595915 |
543 | C>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1479299497 CA346484132 |
543 | C>Y | No |
ClinGen gnomAD |
|
|
rs376232176 CA1595914 |
544 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376232176 CA1595913 |
544 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745335171 CA1595912 |
544 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750555469 CA1595911 |
545 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA44664539 rs866155628 |
546 | L>F | No |
ClinGen Ensembl |
|
|
CA346484101 rs1488044944 |
548 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs765506409 CA1595910 |
549 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373175442 CA1595909 |
550 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346484085 rs1263919611 |
551 | E>A | No |
ClinGen gnomAD |
|
|
CA346484069 rs1307196239 |
552 | L>M | No |
ClinGen gnomAD |
|
|
rs1478447997 CA346484056 |
554 | V>M | No |
ClinGen TOPMed |
|
|
rs758392112 CA1595876 |
555 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44662939 rs573891525 |
556 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 556 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs564349108 CA346484036 |
557 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564349108 CA1595872 |
557 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376923988 CA1595874 |
557 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422758510 CA346484024 |
559 | D>E | No |
ClinGen gnomAD |
|
|
rs764423600 CA346484027 |
559 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1595871 rs764423600 |
559 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA1595870 rs756195307 |
561 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs752891629 CA346484004 |
562 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1595869 rs752891629 |
562 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs368117047 CA44662882 |
564 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1181845824 CA346483991 |
564 | A>S | No |
ClinGen gnomAD |
|
|
rs368117047 CA1595867 |
564 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1595865 rs374855001 |
565 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371921384 CA1595864 |
565 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371921384 CA346483988 |
565 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776202493 CA1595863 |
568 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA1595862 rs768367872 |
569 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1595861 rs368618651 COSM174817 |
569 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA346483958 rs1260950490 |
570 | L>P | No |
ClinGen Ensembl |
|
|
rs1223856636 CA346483945 |
572 | H>R | No |
ClinGen gnomAD |
|
|
CA346483939 rs1324479840 |
573 | Y>H | No |
ClinGen TOPMed |
|
|
rs147172126 CA1595859 |
574 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147172126 CA1595858 |
574 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781285960 CA1595833 |
577 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208545898 CA346483891 |
578 | Q>P | No |
ClinGen TOPMed |
|
|
rs751659231 CA44661676 |
579 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1595830 rs780601074 |
580 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA1595829 rs758882913 |
584 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs973534053 CA44661661 |
586 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA346483839 rs1199620232 |
586 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 587 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1595827 rs765542829 |
589 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1595825 rs752286084 |
590 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759080388 CA1595823 |
591 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs773790910 CA1595822 |
593 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1397729870 CA531479497 |
595 | A>* | No |
ClinGen gnomAD |
|
| TCGA novel | 595 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_028966 rs2276568 CA1595821 |
596 | I>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 597 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762944470 CA1595820 |
598 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA346483758 rs1357118644 |
598 | N>K | No |
ClinGen gnomAD |
|
|
CA346483760 rs1185033113 |
598 | N>S | No |
ClinGen Ensembl |
|
|
rs773305922 CA1595819 |
599 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA346483735 rs369462045 |
600 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346483736 rs369462045 |
600 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369462045 CA1595796 |
600 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1595794 rs775807399 |
601 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1595793 rs772084845 |
601 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 601 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213993752 CA346483724 |
602 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 602 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447658166 CA346483709 |
604 | G>A | No |
ClinGen gnomAD |
|
|
CA346483713 rs1198201516 |
604 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346483706 rs1558607808 |
605 | I>F | No |
ClinGen Ensembl |
|
|
CA346483690 rs1328899985 |
607 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs779390889 CA1595791 |
607 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1595790 rs757821105 |
609 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346483678 rs757821105 |
609 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1595788 rs779096381 |
609 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1274811370 CA346483647 |
614 | L>V | No |
ClinGen gnomAD |
|
|
CA346483643 rs1430738351 |
615 | V>M | No |
ClinGen gnomAD |
|
|
rs1327697822 CA346483629 |
617 | L>F | No |
ClinGen gnomAD |
|
|
CA1595786 rs778039868 |
617 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1289480345 CA346483622 |
618 | R>M | No |
ClinGen TOPMed |
|
| TCGA novel | 619 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1595784 rs377634748 |
619 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757975134 CA346483604 |
621 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757975134 CA1595782 |
621 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369279197 CA1595780 |
623 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776657667 CA1595778 |
624 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346483581 rs1163544659 |
624 | G>V | No |
ClinGen Ensembl |
|
|
CA1595777 rs763751505 |
625 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs775511562 CA1595775 |
626 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1595776 rs760535738 |
626 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA346483561 rs1558607607 |
627 | S>R | No |
ClinGen Ensembl |
|
|
CA346483557 rs1310814059 |
628 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs550957766 CA1595773 |
629 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774465296 CA1595772 |
630 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572781115 CA346483545 |
630 | S>R | No |
ClinGen Ensembl |
|
|
CA1595771 rs771397879 |
631 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs747160084 CA44660201 |
631 | L>V | No |
ClinGen gnomAD |
|
|
CA346483532 rs1572781084 |
632 | V>G | No |
ClinGen Ensembl |
|
|
rs748611344 CA1595767 |
636 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758171090 CA1595765 |
637 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA44660167 rs779837148 |
637 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346483494 rs1451716398 |
638 | L>P | No |
ClinGen TOPMed |
|
|
CA1595763 rs778523144 |
639 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA1595761 rs753664288 |
641 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756818209 CA1595762 |
641 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767261292 CA1595738 |
644 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346483445 rs1572778773 |
644 | T>P | No |
ClinGen Ensembl |
|
|
rs1349448385 CA346483434 |
645 | F>L | No |
ClinGen gnomAD |
|
|
CA1595736 rs186986609 |
646 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1020049 rs766688300 CA1595735 |
646 | R>H | endometrium Variant assessed as Somatic; 4.665e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762927415 CA1595734 |
647 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA346483420 rs1481077002 |
648 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1476301227 CA346483418 |
648 | L>H | No |
ClinGen TOPMed |
|
|
CA346483419 rs1481077002 |
648 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA346483411 rs1270125438 |
649 | S>C | No |
ClinGen gnomAD |
|
|
rs267599339 CA44659223 |
651 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 652 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1595733 rs558380156 |
654 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1572778651 CA346483368 |
656 | Y>H | No |
ClinGen Ensembl |
|
|
rs370062947 CA1595732 |
656 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1166622015 CA346483361 |
657 | L>V | No |
ClinGen TOPMed |
|
|
rs1326810299 CA346483356 |
658 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA346483351 rs1394634458 |
659 | E>K | No |
ClinGen TOPMed |
|
|
rs777295849 CA1595730 |
660 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs377016735 CA1595731 |
660 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346483312 rs1311643340 |
662 | W>* | No |
ClinGen gnomAD |
|
|
CA346483297 rs1281103601 |
664 | S>N | No |
ClinGen TOPMed |
|
|
rs764769112 CA1595711 |
665 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346483276 rs1404876251 |
667 | M>I | No |
ClinGen gnomAD |
|
|
rs761110822 CA1595710 |
667 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1396917660 CA346483279 |
667 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1481667990 CA346483260 |
669 | N>K | No |
ClinGen TOPMed |
|
|
rs1028894553 CA44658831 |
669 | N>S | No |
ClinGen Ensembl |
No associated diseases with Q6MZZ7
No regional properties for Q6MZZ7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q6MZZ7 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| calcium-dependent cysteine-type endopeptidase activity | Catalysis of the hydrolysis of nonterminal peptide bonds in a polypeptide chain by a mechanism using a cysteine residue at the enzyme active center, and requiring the presence of calcium. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
23 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q27970 | CAPN1 | Calpain-1 catalytic subunit | Bos taurus (Bovine) | PR |
| Q27971 | CAPN2 | Calpain-2 catalytic subunit | Bos taurus (Bovine) | PR |
| P00789 | Calpain-1 catalytic subunit | Gallus gallus (Chicken) | PR | |
| Q9VXH6 | CalpC | Calpain-C | Drosophila melanogaster (Fruit fly) | PR |
| Q9UBV8 | PEF1 | Peflin | Homo sapiens (Human) | PR |
| P28676 | GCA | Grancalcin | Homo sapiens (Human) | PR |
| P07384 | CAPN1 | Calpain-1 catalytic subunit | Homo sapiens (Human) | PR |
| O14815 | CAPN9 | Calpain-9 | Homo sapiens (Human) | PR |
| Q9HC96 | CAPN10 | Calpain-10 | Homo sapiens (Human) | PR |
| Q8BFY6 | Pef1 | Peflin | Mus musculus (Mouse) | PR |
| O35350 | Capn1 | Calpain-1 catalytic subunit | Mus musculus (Mouse) | PR |
| Q9ESK3 | Capn10 | Calpain-10 | Mus musculus (Mouse) | PR |
| G3UZ78 | Adgb | Androglobin | Mus musculus (Mouse) | PR |
| O08529 | Capn2 | Calpain-2 catalytic subunit | Mus musculus (Mouse) | PR |
| Q9D805 | Capn9 | Calpain-9 | Mus musculus (Mouse) | PR |
| Q3UW68 | Capn13 | Calpain-13 | Mus musculus (Mouse) | PR |
| P35750 | CAPN1 | Calpain-1 catalytic subunit | Sus scrofa (Pig) | PR |
| P43367 | CAPN2 | Calpain-2 catalytic subunit | Sus scrofa (Pig) | PR |
| Q641Z8 | Pef1 | Peflin | Rattus norvegicus (Rat) | PR |
| O35920 | Capn9 | Calpain-9 | Rattus norvegicus (Rat) | PR |
| P97571 | Capn1 | Calpain-1 catalytic subunit | Rattus norvegicus (Rat) | PR |
| Q07009 | Capn2 | Calpain-2 catalytic subunit | Rattus norvegicus (Rat) | PR |
| Q5BK10 | Capn13 | Calpain-13 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAYYQEPSVE | TSIIKFKDQD | FTTLRDHCLS | MGRTFKDETF | PAADSSIGQK | LLQEKRLSNV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IWKRPQDLPG | GPPHFILDDI | SRFDIQQGGA | ADCWFLAALG | SLTQNPQYRQ | KILMVQSFSH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QYAGIFRFRF | WQCGQWVEVV | IDDRLPVQGD | KCLFVRPRHQ | NQEFWPCLLE | KAYAKLLGSY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SDLHYGFLED | ALVDLTGGVI | TNIHLHSSPV | DLVKAVKTAT | KAGSLITCAT | PSGPTDTAQA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MENGLVSLHA | YTVTGAEQIQ | YRRGWEEIIS | LWNPWGWGEA | EWRGRWSDGS | QEWEETCDPR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KSQLHKKRED | GEFWMSCQDF | QQKFIAMFIC | SEIPITLDHG | NTLHEGWSQI | MFRKQVILGN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TAGGPRNDAQ | FNFSVQEPME | GTNVVVCVTV | AVTPSNLKAE | DAKFPLDFQV | ILAGSQRFRE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KFPPVFFSSF | RNTVQSSNNK | FRRNFTMTYH | LSPGNYVVVA | QTRRKSAEFL | LRIFLKMPDS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DRHLSSHFNL | RMKGSPSEHG | SQQSIFNRYA | QQRLDIDATQ | LQGLLNQELL | TGPPGDMFSL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DECRSLVALM | ELKVNGRLDQ | EEFARLWKRL | VHYQHVFQKV | QTSPGVLLSS | DLWKAIENTD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FLRGIFISRE | LLHLVTLRYS | DSVGRVSFPS | LVCFLMRLEA | MAKTFRNLSK | DGKGLYLTEM |
| EWMSLVMYN |