O14815
PR
Gene name |
CAPN9 (NCL4) |
Protein name |
Calpain-9 |
Names |
Digestive tract-specific calpain, New calpain 4, nCL-4, Protein CG36 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10753 |
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
3 structures for O14815
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1ZIV | X-ray | 231 A | A | 28-347 | PDB |
| 2P0R | X-ray | 250 A | A/B | 10-340 | PDB |
| AF-O14815-F1 | Predicted | AlphaFoldDB |
644 variants for O14815
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1361599257 CA345212928 |
2 | P>L | No |
ClinGen gnomAD |
|
|
CA1448440 rs754568420 |
6 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1448441 rs754568420 |
6 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1448439 rs199941171 |
6 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1448443 rs573553589 |
7 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1448442 rs573553589 |
7 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1399684265 CA345212984 |
9 | G>R | No |
ClinGen TOPMed |
|
|
CA345213004 rs1309215748 |
12 | A>T | No |
ClinGen Ensembl |
|
|
CA1448446 rs189454297 |
14 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1427124740 CA345213030 |
16 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1448450 rs182226726 |
18 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1448449 rs182226726 |
18 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1448453 rs540099468 |
19 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147360179 CA1448452 |
19 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1448451 rs147360179 |
19 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs980040631 CA1448454 |
20 | R>G | No |
ClinGen TOPMed |
|
|
CA1448457 rs762312745 |
20 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1448455 rs980040631 |
20 | R>W | No |
ClinGen TOPMed |
|
|
rs770265135 CA1448458 |
23 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345213088 rs773793654 |
26 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487899257 CA345213089 |
26 | G>D | No |
ClinGen gnomAD |
|
|
rs773793654 CA1448459 |
26 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345213098 rs763331519 |
27 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA38902673 CA345213137 rs930312098 |
32 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA38902666 rs920247498 |
32 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 35 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178350010 CA345213158 |
35 | E>G | No |
ClinGen gnomAD |
|
|
rs1435739486 CA345213154 |
35 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1386252848 CA345213164 |
36 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 37 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1051092790 CA38902684 |
39 | R>G | No |
ClinGen TOPMed |
|
|
CA345213193 rs1162277300 |
40 | G>A | No |
ClinGen gnomAD |
|
|
CA345213194 rs1162277300 |
40 | G>V | No |
ClinGen gnomAD |
|
|
CA345213195 rs1571996883 |
41 | T>P | No |
ClinGen Ensembl |
|
|
CA1448463 rs767064309 |
43 | F>S | No |
ClinGen ExAC |
|
|
CA1448465 rs752205148 |
47 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345213235 rs752205148 |
47 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345213239 rs1299994724 |
47 | D>V | No |
ClinGen gnomAD |
|
|
CA345213236 rs752205148 |
47 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs76778781 CA38902752 |
48 | F>S | No |
ClinGen gnomAD |
|
|
rs1330422248 CA345213258 |
50 | A>D | No |
ClinGen gnomAD |
|
|
CA1448467 rs763772832 |
51 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA345213266 rs1390533158 |
51 | S>R | No |
ClinGen TOPMed |
|
|
CA345213287 rs1185879370 |
54 | S>F | No |
ClinGen TOPMed |
|
|
CA1448468 rs753465995 |
55 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1047487830 CA38902777 |
57 | Y>C | No |
ClinGen Ensembl |
|
|
rs529848168 CA1448469 |
57 | Y>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345213320 rs1240431740 |
59 | E>D | No |
ClinGen TOPMed |
|
|
rs778638122 CA1448471 |
61 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1571997033 CA345213336 |
62 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 62 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780029795 CA1448474 |
63 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1448473 rs549990333 |
63 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1244106920 CA345213349 |
64 | P>S | No |
ClinGen gnomAD |
|
|
rs747124659 CA1448476 |
65 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1448477 rs200153629 |
65 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139545116 CA1448478 |
66 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1172542562 CA345213367 |
67 | W>* | No |
ClinGen gnomAD |
|
|
CA345213393 rs1443273037 |
69 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs202096741 CA1448479 |
69 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs944856824 CA38902834 |
70 | P>S | No |
ClinGen Ensembl |
|
|
rs1406499123 CA345213418 |
71 | G>W | No |
ClinGen gnomAD |
|
|
CA1448514 rs752889376 |
72 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1448515 rs756185479 |
73 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1448516 rs200358258 |
74 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs372061598 CA1448517 |
76 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 76 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1448519 rs779270065 |
81 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA1448520 rs146884450 |
82 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345200864 rs146884450 |
82 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1572013859 CA345200868 |
83 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 83 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772623558 CA1448521 |
85 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs775974367 CA1448522 |
86 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA345200902 rs1465955249 |
86 | R>S | No |
ClinGen TOPMed |
|
|
CA1448523 rs377009492 |
87 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345200921 rs1481750503 |
88 | D>N | No |
ClinGen gnomAD |
|
|
rs1180210132 CA345200938 |
89 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA38858243 rs199497674 |
89 | I>T | No |
ClinGen Ensembl |
|
|
CA38858242 rs775051989 |
89 | I>V | No |
ClinGen Ensembl |
|
|
CA345200977 rs1438995172 |
92 | G>E | No |
ClinGen gnomAD |
|
|
rs1415449055 CA345200983 |
93 | E>K | No |
ClinGen gnomAD |
|
|
rs777274221 CA1448544 |
95 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs578209556 CA345201012 CA38858254 |
95 | G>R | No |
ClinGen 1000Genomes TOPMed |
|
|
CA345201270 rs1470480286 |
96 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 96 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1448545 rs748908964 |
96 | D>Y | Variant assessed as Somatic; 9.288e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 97 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345201274 rs372966497 |
97 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372966497 CA1448546 |
97 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1448548 rs146559174 |
98 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345201291 rs1219629724 |
98 | W>G | No |
ClinGen gnomAD |
|
|
CA345201318 rs1270836258 |
100 | L>* | No |
ClinGen gnomAD |
|
|
rs376185582 CA1448551 |
102 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1448552 VAR_022188 rs12562749 |
102 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1430763750 CA345201363 |
103 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 103 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434464956 CA345201375 |
104 | A>D | No |
ClinGen TOPMed |
|
|
CA1448554 rs142931612 |
104 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1448556 rs750623492 |
105 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370370799 CA1448559 |
107 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA38861251 rs1048809170 |
108 | L>F | No |
ClinGen Ensembl |
|
|
rs1480562781 CA345201425 |
108 | L>P | No |
ClinGen gnomAD |
|
|
rs189554570 CA1448560 |
110 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 112 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778727847 CA1448564 |
113 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1347499598 CA345201501 |
114 | A>T | No |
ClinGen gnomAD |
|
|
rs1478556405 CA345201514 |
115 | R>G | No |
ClinGen gnomAD |
|
|
CA345201551 rs1277658834 |
117 | I>M | No |
ClinGen gnomAD |
|
|
CA345201570 rs1558087128 |
119 | Q>* | No |
ClinGen Ensembl |
|
| rs777676239 | 119 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345201583 rs1346309907 |
120 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 121 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA38861314 rs866485282 |
121 | Q>R | No |
ClinGen Ensembl |
|
|
CA1448566 VAR_022189 rs28359608 |
122 | S>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345201631 rs1430900240 |
123 | F>L | No |
ClinGen gnomAD |
|
|
rs1276380773 CA345201636 |
123 | F>S | No |
ClinGen gnomAD |
|
|
CA38861349 rs1005441620 |
124 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1448567 rs771996294 |
126 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489239065 CA345201689 |
127 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA38861364 rs997783910 |
129 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs995530212 CA38861376 |
130 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345201720 rs150539773 |
130 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1448571 rs149818978 |
131 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1448572 rs149818978 |
131 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 134 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345201747 rs1382638556 |
134 | Q>R | No |
ClinGen gnomAD |
|
|
CA1448597 rs201142601 |
135 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345202037 rs1479223513 |
136 | W>G | No |
ClinGen gnomAD |
|
|
rs753250144 CA38863389 |
137 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs753250144 CA1448598 |
137 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs756630561 CA1448599 |
138 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1448600 rs764683351 |
140 | E>G | No |
ClinGen ExAC |
|
|
rs1456746443 CA345202136 |
140 | E>K | No |
ClinGen gnomAD |
|
|
rs1482443521 CA345202163 |
141 | W>R | No |
ClinGen TOPMed |
|
| TCGA novel | 142 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572027463 CA345202210 |
143 | D>G | No |
ClinGen Ensembl |
|
|
rs373142698 CA38863411 |
144 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373142698 CA1448602 |
144 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572027495 CA345202264 |
145 | V>G | No |
ClinGen Ensembl |
|
|
CA38863417 rs967896567 |
146 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1572027505 CA345202270 |
146 | I>V | No |
ClinGen Ensembl |
|
|
rs146533603 CA1448604 |
147 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1448603 rs146533603 |
147 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1448605 rs151280259 |
149 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1448606 rs201859022 |
149 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA345202365 rs1572027561 |
152 | T>P | No |
ClinGen Ensembl |
|
|
rs769783400 CA1448608 |
152 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1419062333 CA345202405 |
154 | R>G | No |
ClinGen TOPMed |
|
|
rs115689529 CA1448610 |
156 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770863143 CA1448611 |
156 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770863143 CA345202463 |
156 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1448609 rs115689529 |
156 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345202481 rs1339412778 |
157 | L>S | No |
ClinGen gnomAD |
|
|
rs759608534 CA1448613 |
159 | F>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 160 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304690442 CA345202563 |
161 | H>Y | No |
ClinGen gnomAD |
|
|
CA345202582 rs1315705295 |
162 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1448615 rs28359632 VAR_022190 |
164 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1448617 rs572206186 |
165 | H>D | No |
ClinGen ExAC |
|
|
CA345202662 rs1199296023 |
165 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA345202656 rs1484517978 |
165 | H>R | No |
ClinGen gnomAD |
|
|
rs1038136541 CA38863483 |
166 | N>D | No |
ClinGen Ensembl |
|
|
rs553669650 CA1448618 |
166 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345202698 rs1195967092 |
167 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA345202702 rs1195967092 |
167 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA38863503 rs1047298071 |
168 | F>I | No |
ClinGen TOPMed |
|
|
rs1047298071 CA345202728 |
168 | F>L | No |
ClinGen TOPMed |
|
|
CA345202766 rs1169684609 |
169 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA38863511 rs868757603 |
169 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 170 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345202791 rs751230944 |
170 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 171 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141682829 CA1448623 |
171 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1448624 rs780887105 |
172 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1448625 rs752559809 |
175 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 176 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1448628 rs146158165 |
178 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 181 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177152969 CA345203632 |
181 | N>S | No |
ClinGen TOPMed |
|
|
rs1383376895 CA345203654 |
183 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1448650 rs199946717 |
183 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345203678 rs1427789942 |
184 | Y>S | No |
ClinGen TOPMed |
|
|
CA345203714 rs1558093050 |
186 | A>G | No |
ClinGen Ensembl |
|
|
CA345203723 rs1418510508 |
187 | L>P | No |
ClinGen gnomAD |
|
|
rs1164884144 CA345203754 |
189 | G>E | No |
ClinGen gnomAD |
|
|
CA345203772 rs1183766776 |
190 | G>D | No |
ClinGen TOPMed |
|
|
COSM905389 COSM1584228 CA1448653 rs536743386 |
192 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA345203858 rs372361365 |
193 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345203868 rs1449609220 |
194 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs556429467 CA1448655 |
195 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1289241143 CA345203897 |
196 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751244678 CA38866082 |
197 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA1448656 rs751244678 |
197 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA345203940 rs1209152193 |
198 | D>G | No |
ClinGen TOPMed |
|
|
CA1448657 rs148953435 |
198 | D>Y | No |
ClinGen ESP ExAC |
|
|
rs1003354168 CA38866116 |
199 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345203975 rs1292121249 |
200 | T>I | No |
ClinGen gnomAD |
|
|
rs1558093190 CA345203979 |
201 | G>R | No |
ClinGen Ensembl |
|
|
rs1221175390 CA345203988 |
201 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs962765916 CA38866121 |
202 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs773742359 CA1448660 |
202 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759021638 CA1448661 |
203 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1469569838 CA345204054 |
207 | F>S | No |
ClinGen gnomAD |
|
|
CA345204097 rs1558093226 |
210 | K>I | No |
ClinGen Ensembl |
|
|
CA345204107 rs1181938438 |
211 | E>Q | No |
ClinGen gnomAD |
|
|
CA1448663 rs752347458 |
212 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs375577407 CA1448666 |
214 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757044891 CA1448668 |
217 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1448667 rs757044891 |
217 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA38866159 rs984018565 |
218 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs758439855 CA1448670 |
220 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1448669 rs147002278 |
220 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1377121442 CA345204241 |
221 | E>G | No |
ClinGen gnomAD |
|
|
rs909510246 CA38866171 |
221 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs780217323 CA1448671 |
222 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1025761017 COSM1660975 CA345204270 COSM1660976 |
223 | A>D | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1025761017 CA38866181 |
223 | A>V | No |
ClinGen TOPMed |
|
|
rs1410595521 CA345204303 |
226 | R>G | No |
ClinGen TOPMed |
|
|
rs747249590 CA1448672 |
227 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345204322 rs1425251489 |
227 | G>D | No |
ClinGen TOPMed |
|
|
rs747249590 CA345204317 |
227 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38866183 rs950560110 |
228 | S>C | No |
ClinGen Ensembl |
|
|
rs1200227825 CA345204348 |
230 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs755310866 CA1448673 |
230 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1448674 rs781562865 |
231 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs748504285 CA1448675 |
233 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1181106696 CA345204390 |
233 | F>Y | No |
ClinGen TOPMed |
|
|
rs28359644 COSM1582916 COSM1582917 CA1448676 VAR_022191 |
234 | I>T | meninges [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA345204398 rs1248316408 |
234 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1436858184 CA345204962 |
236 | T>I | No |
ClinGen gnomAD |
|
|
CA1448702 rs768105875 |
238 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1448703 VAR_022192 rs28359647 |
239 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1448704 rs191041783 |
239 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764955805 CA1448705 |
240 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1448707 rs762838827 |
245 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773118500 CA1448706 |
245 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766462539 CA1448708 |
246 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1448710 rs201934852 |
247 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376744861 CA345205049 |
249 | G>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1448712 rs752871765 |
249 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376744861 CA38867864 |
249 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs144186744 CA1448714 |
251 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1448713 rs144186744 |
251 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345205066 rs1279336989 |
252 | K>T | No |
ClinGen TOPMed |
|
|
CA345205074 rs1238863534 |
253 | G>D | No |
ClinGen gnomAD |
|
|
CA1448716 rs144353051 |
254 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144353051 CA1448715 |
254 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345205093 rs1290939282 |
256 | Y>C | No |
ClinGen Ensembl |
|
|
CA345205103 rs779417250 CA1448717 |
257 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA345205105 rs1391635182 CA345205106 |
258 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746333029 CA1448718 |
259 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1407051847 CA345205138 |
263 | Q>* | No |
ClinGen TOPMed |
|
|
rs1398972122 CA345205304 |
264 | V>I | No |
ClinGen TOPMed |
|
|
rs1195780373 CA345205332 |
265 | S>R | No |
ClinGen gnomAD |
|
|
rs1456815550 CA345205325 |
265 | S>T | No |
ClinGen gnomAD |
|
|
CA1448744 rs774342227 |
267 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1192153 CA1448745 rs375897039 COSM1192154 |
267 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1448746 rs772083829 |
268 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 269 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1448748 rs148793642 |
271 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs547694110 CA1448749 |
272 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1341824813 CA345205437 |
273 | L>I | No |
ClinGen TOPMed |
|
|
CA345205454 rs1242005720 |
274 | I>F | No |
ClinGen TOPMed |
|
|
CA1448750 rs559454208 |
275 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs370295873 COSM1199536 CA1448751 COSM1199535 |
275 | R>Q | large_intestine stomach [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs145410369 CA1448753 |
277 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1448752 rs28359655 VAR_022193 |
277 | R>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs375003971 CA345205521 |
279 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375003971 CA1448754 |
279 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345205518 rs375003971 |
279 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1448756 rs751949984 |
282 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA1448757 rs755650989 |
283 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1448758 rs755650989 |
283 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1448759 rs145028426 |
284 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1448760 rs757014743 |
285 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs200742141 CA38870236 |
286 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143186556 CA1448762 |
287 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1448764 rs561870258 |
288 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768804089 CA1448766 |
289 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1572044615 CA345205644 |
289 | W>G | No |
ClinGen Ensembl |
|
|
rs776740536 CA1448768 |
290 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200448422 CA1448769 |
291 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA38870309 rs1054784013 |
292 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs972328168 CA38870310 |
292 | S>N | No |
ClinGen Ensembl |
|
|
rs996278420 CA38872372 |
294 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1448789 rs371287169 COSM1584226 |
294 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs771345731 CA1448790 |
295 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA345206268 rs1265781289 |
296 | W>* | No |
ClinGen gnomAD |
|
|
rs774623830 CA1448791 |
296 | W>R | No |
ClinGen ExAC |
|
|
CA1448792 rs759944848 |
297 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200084465 CA1448793 |
297 | R>H | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200084465 CA1448794 |
297 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1448795 rs761414207 |
298 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252226656 CA345206295 |
298 | S>P | No |
ClinGen gnomAD |
|
|
CA38872397 rs954040519 |
301 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 304 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558099848 CA345206428 |
306 | R>C | No |
ClinGen Ensembl |
|
|
CA1448798 rs758036641 |
306 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779725253 CA1448799 |
307 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 309 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751376490 CA1448800 |
309 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs988845505 CA38872458 |
313 | D>G | No |
ClinGen TOPMed |
|
|
rs781118732 CA1448802 |
313 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748009160 CA345206563 |
314 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs748009160 CA1448804 |
314 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA345209172 rs767130719 |
318 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1448837 rs767130719 |
318 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1448806 rs374762116 |
318 | W>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752525122 CA1448838 |
321 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1933631 CA1448839 VAR_022194 |
322 | K>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345209291 rs1250539749 |
325 | K>R | No |
ClinGen Ensembl |
|
|
rs763956045 CA1448840 |
326 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs28359684 VAR_022195 CA1448841 |
327 | H>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 329 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1448842 rs373024313 |
329 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377433609 CA1448843 |
330 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1448844 rs745922166 |
331 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1448847 rs747435521 |
335 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs143810036 CA1448846 |
335 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143810036 CA345209455 |
335 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140805668 CA1448848 |
336 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345209518 rs370629822 |
339 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1448851 rs770366418 |
339 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1393828497 CA345209524 |
340 | A>G | No |
ClinGen gnomAD |
|
|
CA345209520 rs759012112 |
340 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA1448853 rs759012112 |
340 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1448856 rs760395648 |
342 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs16852652 CA1448855 VAR_022196 |
342 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs16852652 CA38876526 |
342 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145648359 CA345209551 |
345 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145648359 COSM210308 CA1448857 |
345 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs753743813 CA1448858 |
345 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449126193 CA345209577 |
348 | K>N | No |
ClinGen TOPMed |
|
|
rs1305474176 CA345209599 |
351 | V>A | No |
ClinGen gnomAD |
|
|
COSM1340020 rs145226005 COSM1340021 CA1448859 |
352 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA345209617 rs1309438760 |
354 | H>L | No |
ClinGen gnomAD |
|
|
CA1448862 rs750599570 |
358 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1448863 rs750599570 |
358 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780436701 CA1448864 |
360 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA345209657 rs1354483285 |
360 | R>H | No |
ClinGen TOPMed |
|
|
CA345209660 rs575112353 |
361 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs575112353 CA1448868 |
361 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1448870 rs148341318 |
363 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1448872 rs745399830 |
364 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1448873 rs771508321 |
366 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 366 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572060292 CA345209694 |
367 | C>R | No |
ClinGen Ensembl |
|
|
CA345209699 rs1572060304 |
367 | C>W | No |
ClinGen Ensembl |
|
| TCGA novel | 367 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150463113 CA1448874 |
368 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150463113 CA345209701 |
368 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1448875 rs144137595 |
368 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144137595 CA1448876 |
368 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144137595 CA345209702 |
368 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1448893 rs201808100 |
373 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746472399 CA1448894 |
375 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1448895 rs768422026 |
376 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1319810317 CA345209778 |
378 | P>T | No |
ClinGen TOPMed |
|
|
CA1448896 rs776135067 |
379 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 379 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769645755 CA1448898 |
380 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs934430454 COSM390721 CA38877902 |
383 | S>F | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs182130430 CA38877908 |
384 | L>P | No |
ClinGen 1000Genomes |
|
|
rs766393368 CA1448901 |
386 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1448902 rs751697584 |
388 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA345209861 rs1343143540 |
390 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA38877921 rs372235071 |
391 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA345209863 rs1391128428 |
391 | Q>K | No |
ClinGen TOPMed |
|
|
CA1448904 rs144741428 |
392 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 392 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144741428 CA1448903 |
392 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1044694229 CA38877967 |
394 | C>R | No |
ClinGen TOPMed |
|
|
rs756505577 CA1448906 |
394 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1448907 rs142155278 |
395 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757802876 CA1448909 |
397 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs938632446 CA38878020 |
398 | V>A | No |
ClinGen TOPMed |
|
|
rs374679358 CA1448912 |
399 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA38878046 rs982917219 |
400 | L>V | No |
ClinGen Ensembl |
|
|
rs907684890 CA38878047 |
402 | Q>* | No |
ClinGen gnomAD |
|
|
rs769732536 CA1448915 |
402 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA1448914 rs542860265 |
402 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1448916 rs773189093 |
403 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA345209948 rs1373095167 |
404 | D>G | No |
ClinGen TOPMed |
|
|
CA1448917 rs749058390 |
404 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771056282 CA1448918 |
408 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs774138533 CA1448919 |
409 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA345209986 rs1437300752 |
410 | R>G | No |
ClinGen TOPMed |
|
|
CA1448920 rs367743072 |
411 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 413 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201994230 CA1448921 |
414 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1448922 rs775807562 |
414 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1395641188 CA345210018 |
415 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs79844715 CA1448923 |
416 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764273878 CA1448924 |
417 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1374471754 CA345210035 |
418 | I>N | No |
ClinGen gnomAD |
|
|
rs921847843 CA38878141 |
418 | I>V | No |
ClinGen Ensembl |
|
|
CA1448925 rs377218570 |
419 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371892131 CA1448926 |
420 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM905392 COSM1584224 rs765787380 CA345210067 |
423 | Y>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs765787380 CA1448927 |
423 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA1448928 rs750828113 |
424 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345210071 rs750828113 |
424 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345210126 rs28359687 |
429 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345210128 rs750960558 |
430 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA345210133 rs1337249277 |
430 | E>D | No |
ClinGen Ensembl |
|
|
CA1448950 rs750960558 |
430 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1227555669 CA345210135 |
431 | H>Y | No |
ClinGen gnomAD |
|
|
CA345210143 rs1273644274 |
432 | L>V | No |
ClinGen gnomAD |
|
|
CA345210168 rs1469747753 |
435 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 436 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345210180 rs1303765321 |
437 | F>L | No |
ClinGen TOPMed |
|
|
rs548167059 CA1448952 |
438 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1176452892 CA345210193 |
439 | Y>H | No |
ClinGen gnomAD |
|
|
rs373035598 CA1448954 |
441 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777579811 CA1448955 |
442 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757100698 CA345210220 |
443 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs757100698 CA1448957 |
443 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1448956 rs753471492 |
443 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745649541 CA1448959 |
444 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 444 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1448958 rs778624600 |
444 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs771973044 CA1448960 |
446 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1448961 rs779954945 |
448 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1448963 rs768658275 |
449 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1277560406 CA345210264 |
450 | I>T | No |
ClinGen gnomAD |
|
|
CA38878660 rs751551134 |
451 | N>D | No |
ClinGen Ensembl |
|
|
rs143757720 CA1448965 |
451 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA38878666 rs1037828580 |
452 | L>M | No |
ClinGen TOPMed |
|
|
CA1448968 rs763367771 |
456 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 457 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1448969 rs766849862 |
457 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA345210310 rs28359688 |
458 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150832269 CA1448971 |
458 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1448970 rs28359688 VAR_022197 |
458 | R>W | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs763652570 CA1448972 COSM236378 |
459 | F>L | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs753379487 CA1448973 |
460 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38878726 rs377090700 |
461 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1448975 rs756904833 |
463 | P>L | No |
ClinGen ExAC gnomAD |
|
| rs778837710 | 463 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757797236 CA38878746 |
463 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 464 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs949561130 CA38878761 |
465 | E>K | No |
ClinGen Ensembl |
|
|
CA1448976 rs149599568 |
467 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs34548204 CA38878789 |
468 | L>R | No |
ClinGen Ensembl |
|
|
CA345210372 rs1440076107 |
469 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1168392273 CA345210390 |
471 | S>I | No |
ClinGen gnomAD |
|
|
CA1448978 rs758155703 |
472 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs779973457 COSM1601879 CA1448979 COSM1601880 |
474 | E>D | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA345210410 rs1558106933 |
474 | E>G | No |
ClinGen Ensembl |
|
|
CA1448980 rs746911125 |
475 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 476 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345210424 rs768744335 CA1448981 |
476 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362541277 CA345210431 |
477 | Q>H | No |
ClinGen gnomAD |
|
|
CA1448982 rs139309696 |
479 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749998999 CA38878845 |
481 | F>I | No |
ClinGen TOPMed |
|
|
CA1448983 rs748227345 |
482 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 483 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763236269 CA1448986 |
484 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345210478 rs1484526421 |
484 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 488 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA38878901 rs1048668429 |
488 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1448988 rs771257971 |
488 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 491 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1448989 rs146035889 |
491 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345210528 rs1476747121 |
492 | I>V | No |
ClinGen gnomAD |
|
|
rs371953997 CA345210540 |
494 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776351523 CA1448992 |
494 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1448991 rs371953997 |
494 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771333487 CA1449006 |
495 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771333487 CA1449007 |
495 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345210698 rs1558111237 |
496 | M>T | No |
ClinGen Ensembl |
|
|
rs772767491 CA1449008 |
496 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142051905 CA1449009 |
497 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA38885195 rs142051905 |
497 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs761233393 CA1449010 |
498 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299934374 CA345210709 |
498 | G>R | No |
ClinGen TOPMed |
|
|
rs764766593 CA1449011 |
499 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA38885206 rs1002454388 |
500 | V>I | No |
ClinGen TOPMed |
|
|
rs1393387004 CA345210731 |
501 | D>G | No |
ClinGen gnomAD |
|
|
rs1393387004 CA345210729 |
501 | D>V | No |
ClinGen gnomAD |
|
|
CA345210737 rs1477755895 |
502 | I>T | No |
ClinGen gnomAD |
|
|
CA38885212 rs781372296 |
502 | I>V | No |
ClinGen Ensembl |
|
|
rs1158727124 CA345210752 |
504 | L>R | No |
ClinGen TOPMed |
|
|
CA345210759 rs1399183942 |
505 | P>L | No |
ClinGen TOPMed |
|
|
CA345210761 rs1159311293 |
506 | E>K | No |
ClinGen gnomAD |
|
|
CA345210785 rs1558112672 |
507 | P>R | No |
ClinGen Ensembl |
|
|
CA38886414 rs976804002 |
510 | P>L | No |
ClinGen TOPMed |
|
|
rs762444881 COSM1320397 CA1449032 COSM1320398 |
510 | P>S | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs770627288 CA1449033 |
511 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1449034 rs773931201 |
512 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1660977 COSM1660978 rs200997303 CA38886443 |
517 | T>A | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA345210853 rs1386168995 |
518 | E>G | No |
ClinGen TOPMed |
|
|
rs1337135695 CA345210868 |
520 | E>A | No |
ClinGen gnomAD |
|
|
CA345210874 rs1439618017 |
521 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA345210875 rs1439618017 |
521 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1449038 rs760709990 |
522 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1449037 VAR_022198 rs12731961 |
522 | R>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs780593179 CA1449040 |
524 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1449039 rs570738654 |
524 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1449041 rs142552467 |
525 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 525 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345210902 rs750634517 |
526 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1449043 rs750634517 |
526 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA1449042 rs199898968 |
526 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1436261498 CA345210904 |
527 | F>L | No |
ClinGen gnomAD |
|
|
CA345210927 rs1181689476 |
530 | V>I | No |
ClinGen gnomAD |
|
|
rs139326872 CA1449045 |
531 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1189807153 CA345210937 |
531 | A>V | No |
ClinGen gnomAD |
|
|
rs1029333603 CA38886512 |
532 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA345210941 rs1029333603 |
532 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1449046 rs143651583 |
533 | E>K | No |
ClinGen ESP ExAC |
|
|
CA345210992 rs752017982 |
536 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 537 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345211003 rs1572084682 |
538 | T>R | No |
ClinGen Ensembl |
|
|
rs781722724 CA1449067 |
539 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1227762872 CA345211011 |
540 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs748610124 CA1449068 |
542 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs201069206 CA345211029 |
542 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs201069206 CA38888229 |
542 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA345211030 rs1459220608 |
543 | E>K | No |
ClinGen TOPMed |
|
|
CA1449069 rs374496409 |
544 | Y>C | No |
ClinGen ESP ExAC TOPMed |
|
|
rs551933511 CA1449072 |
548 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551933511 CA1449071 |
548 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1449076 rs776733289 |
551 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1572088585 CA345211722 |
555 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 555 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1449103 rs756415562 |
555 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs764592952 CA1449104 |
559 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1449105 rs754262842 |
566 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs754262842 CA345211887 |
566 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs559171344 CA38889732 |
566 | C>Y | No |
ClinGen 1000Genomes TOPMed |
|
|
CA345211940 rs1218729771 |
569 | I>F | No |
ClinGen gnomAD |
|
|
rs948510720 CA38889736 |
569 | I>N | No |
ClinGen Ensembl |
|
|
CA1449110 rs140529301 |
573 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1449109 rs754745696 |
573 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1449108 rs541625770 |
573 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs995056082 | 574 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755991630 CA1449129 |
575 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 576 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345212055 rs1170016760 |
576 | S>T | No |
ClinGen TOPMed |
|
|
rs537600233 CA1449131 |
577 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1313232948 CA345212074 |
578 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs770838296 CA1449132 |
578 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs776577857 CA1449134 |
579 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs776577857 CA345212094 |
579 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA345212106 rs1572090052 |
580 | K>R | No |
ClinGen Ensembl |
|
|
rs148405103 COSM3746854 COSM138280 CA1449135 |
582 | E>K | liver skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs760940103 CA1449137 |
583 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA1449136 rs775712744 |
583 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA1449138 rs768838534 |
584 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs776929763 CA1449139 |
585 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776929763 CA38890191 |
585 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280325437 CA345212193 |
587 | K>E | No |
ClinGen gnomAD |
|
|
CA1449141 rs765673325 |
587 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576861799 CA1449140 |
587 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 589 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs896120286 CA38890240 |
590 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1449143 rs759144753 |
591 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs767082280 CA1449144 |
592 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs752233210 CA1449145 |
593 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs147594451 CA1449146 |
593 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370203510 CA1449147 |
597 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369207115 CA38890696 |
598 | N>D | No |
ClinGen ESP TOPMed |
|
|
CA38890699 rs865783415 |
598 | N>K | No |
ClinGen Ensembl |
|
|
rs1279806414 CA345212335 |
601 | L>F | No |
ClinGen gnomAD |
|
|
rs922168857 CA38890752 |
602 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1449168 rs140602848 |
602 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1449170 rs190359189 |
604 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1449171 rs779957130 |
605 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1287862562 CA345212358 |
605 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA345212369 rs1182739152 |
606 | D>E | No |
ClinGen gnomAD |
|
|
CA345212377 rs1445407222 |
607 | K>N | No |
ClinGen TOPMed |
|
|
CA1449172 rs747107303 |
608 | S>P | No |
ClinGen ExAC TOPMed |
|
|
rs769880929 CA1449176 |
609 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs749665472 CA1449178 |
610 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs16852683 VAR_022199 CA1449181 |
611 | M>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1449180 rs771622279 |
611 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1449182 rs760295039 |
612 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 612 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308186432 CA345212408 |
613 | T>A | No |
ClinGen gnomAD |
|
|
rs142078788 CA1449183 |
614 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1449184 rs775983601 |
616 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764796593 CA1449187 |
617 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764796593 CA1449186 |
617 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761567743 CA1449185 |
617 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758134139 CA1449188 |
618 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1226218954 COSM1340024 COSM1340025 CA345212441 |
619 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA345212461 rs1355658813 |
622 | A>S | No |
ClinGen gnomAD |
|
|
rs1197343375 CA345212501 |
624 | G>V | No |
ClinGen TOPMed |
|
|
rs1171252259 CA345212521 |
625 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 626 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345212562 rs1558119865 |
629 | S>R | No |
ClinGen Ensembl |
|
|
rs759553237 CA1449212 |
630 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA1449213 rs767351079 |
630 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1449214 rs752878529 |
631 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA38892624 rs888018572 |
635 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1449215 rs370675670 |
636 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1449216 rs778143414 |
639 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs754066836 CA345212693 |
640 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1449217 rs754066836 |
640 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572096031 CA345212700 |
641 | D>N | No |
ClinGen Ensembl |
|
|
CA345212708 rs1377497758 |
641 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1449220 rs746214842 |
643 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs145939347 CA1449221 |
643 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1017873212 CA38892656 |
645 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 646 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA38892662 rs551802362 |
647 | D>G | No |
ClinGen 1000Genomes |
|
|
rs769257212 CA345212807 |
649 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345212809 rs769257212 |
649 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769257212 CA1449224 |
649 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377389208 CA345212864 |
653 | N>H | No |
ClinGen gnomAD |
|
|
rs1553265700 CA1449228 |
654 | C>F | No |
ClinGen Ensembl |
|
|
rs150802007 CA1449230 |
656 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs774266028 CA1449234 |
657 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1449235 rs376872376 |
657 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774266028 CA345212896 |
657 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1449236 rs752509711 |
658 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs760861305 CA1449238 |
659 | E>D | No |
ClinGen ExAC |
|
|
CA1449239 rs753939021 |
660 | N>I | No |
ClinGen ExAC |
|
|
rs757621315 CA1449241 |
660 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1449243 rs199590749 |
661 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1449242 rs750817495 |
661 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1449244 rs199590749 |
661 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs140393588 CA1449246 |
663 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746787858 CA1449271 |
664 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1449270 rs775216479 |
664 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1422127632 CA345213704 |
667 | A>P | No |
ClinGen gnomAD |
|
|
rs1422127632 CA345213702 |
667 | A>T | No |
ClinGen gnomAD |
|
|
rs1387123875 COSM1199533 COSM1199534 CA345213714 |
667 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA345213727 rs142958578 |
668 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1449273 rs142958578 |
668 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345213760 rs1461216128 |
670 | T>A | No |
ClinGen TOPMed |
|
|
rs762018423 CA1449274 |
670 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345213861 rs1303294461 |
674 | E>G | No |
ClinGen gnomAD |
|
|
rs1441228053 CA345213853 |
674 | E>K | No |
ClinGen gnomAD |
|
|
CA345213913 rs375166270 |
677 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1449277 rs144975337 |
677 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375166270 CA1449278 |
677 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1449279 rs775538016 |
682 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1449299 rs771067620 |
683 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345214361 rs1316735236 |
683 | F>S | No |
ClinGen TOPMed |
|
|
rs774489843 CA1449300 |
684 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs759924222 CA1449301 |
687 | T>K | No |
ClinGen ExAC gnomAD |
No associated diseases with O14815
No regional properties for O14815
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O14815 | |||
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 |
|---|---|
| digestion | The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
19 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 |
| P07384 | CAPN1 | Calpain-1 catalytic subunit | Homo sapiens (Human) | PR |
| Q6MZZ7 | CAPN13 | Calpain-13 | Homo sapiens (Human) | PR |
| Q9HC96 | CAPN10 | Calpain-10 | Homo sapiens (Human) | 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 |
| Q3UW68 | Capn13 | Calpain-13 | Mus musculus (Mouse) | PR |
| Q9D805 | Capn9 | Calpain-9 | Mus musculus (Mouse) | PR |
| P35750 | CAPN1 | Calpain-1 catalytic subunit | Sus scrofa (Pig) | PR |
| P43367 | CAPN2 | Calpain-2 catalytic subunit | Sus scrofa (Pig) | PR |
| P97571 | Capn1 | Calpain-1 catalytic subunit | Rattus norvegicus (Rat) | PR |
| Q5BK10 | Capn13 | Calpain-13 | Rattus norvegicus (Rat) | PR |
| Q07009 | Capn2 | Calpain-2 catalytic subunit | Rattus norvegicus (Rat) | PR |
| O35920 | Capn9 | Calpain-9 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPYLYRAPGP | QAHPVPKDAR | ITHSSGQSFE | QMRQECLQRG | TLFEDADFPA | SNSSLFYSER |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PQIPFVWKRP | GEIVKNPEFI | LGGATRTDIC | QGELGDCWLL | AAIASLTLNQ | KALARVIPQD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QSFGPGYAGI | FHFQFWQHSE | WLDVVIDDRL | PTFRDRLVFL | HSADHNEFWS | ALLEKAYAKL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NGSYEALKGG | SAIEAMEDFT | GGVAETFQTK | EAPENFYEIL | EKALKRGSLL | GCFIDTRSAA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ESEARTPFGL | IKGHAYSVTG | IDQVSFRGQR | IELIRIRNPW | GQVEWNGSWS | DSSPEWRSVG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PAEQKRLCHT | ALDDGEFWMA | FKDFKAHFDK | VEICNLTPDA | LEEDAIHKWE | VTVHQGSWVR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GSTAGGCRNF | LDTFWTNPQI | KLSLTEKDEG | QEECSFLVAL | MQKDRRKLKR | FGANVLTIGY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AIYECPDKDE | HLNKDFFRYH | ASRARSKTFI | NLREVSDRFK | LPPGEYILIP | STFEPHQEAD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FCLRIFSEKK | AITRDMDGNV | DIDLPEPPKP | TPPDQETEEE | QRFRALFEQV | AGEDMEVTAE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ELEYVLNAVL | QKKKDIKFKK | LSLISCKNII | SLMDTSGNGK | LEFDEFKVFW | DKLKQWINLF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LRFDADKSGT | MSTYELRTAL | KAAGFQLSSH | LLQLIVLRYA | DEELQLDFDD | FLNCLVRLEN |
| 670 | 680 | ||||
| ASRVFQALST | KNKEFIHLNI | NEFIHLTMNI |