Q9H8L6
PR
Gene name |
MMRN2 (EMILIN3) |
Protein name |
Multimerin-2 |
Names |
EMILIN-3, Elastin microfibril interface located protein 3, Elastin microfibril interfacer 3, EndoGlyx-1 p125/p140 subunit |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79812 |
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
1 structures for Q9H8L6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H8L6-F1 | Predicted | AlphaFoldDB |
843 variants for Q9H8L6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA211189581 rs376559654 |
5 | L>W | No |
ClinGen Ensembl |
|
|
CA377453791 rs1309418089 |
8 | S>G | No |
ClinGen TOPMed |
|
|
TCGA novel CA377453681 rs1344455602 |
11 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA377453682 rs1344455602 |
11 | G>D | No |
ClinGen gnomAD |
|
|
CA377453658 rs1292902679 |
12 | P>L | No |
ClinGen TOPMed |
|
|
rs1406546186 CA377453608 |
14 | G>V | No |
ClinGen gnomAD |
|
|
CA377453577 rs1391097837 |
15 | W>* | No |
ClinGen gnomAD |
|
|
CA377453553 rs1203590709 |
16 | G>E | No |
ClinGen TOPMed |
|
|
CA377453523 rs1251789995 |
17 | L>P | No |
ClinGen TOPMed |
|
|
rs765548952 CA5586469 |
20 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs768776155 CA5586466 |
21 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs919867294 CA377453383 |
23 | Q>* | No |
ClinGen gnomAD |
|
|
CA211189504 rs919867294 |
23 | Q>E | No |
ClinGen gnomAD |
|
|
CA377453369 rs1197796448 |
23 | Q>R | No |
ClinGen gnomAD |
|
|
CA5586464 rs774130561 |
26 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5586463 rs770772378 |
27 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA377453256 rs770772378 |
27 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA211189469 rs112554066 |
28 | S>I | No |
ClinGen Ensembl |
|
| TCGA novel | 28 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747625024 CA5586459 |
30 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA377453084 rs1322478171 |
34 | S>C | No |
ClinGen gnomAD |
|
|
rs1589310025 CA377453031 |
35 | S>F | No |
ClinGen Ensembl |
|
|
CA5586456 rs751311690 |
36 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs780540982 CA5586455 |
36 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA377452914 rs1402935604 |
40 | V>I | No |
ClinGen gnomAD |
|
|
CA211189427 rs866222300 |
41 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs750916661 CA5586453 |
41 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA5586452 rs765689483 |
42 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586451 rs761899030 |
43 | A>V | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 44 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427640032 CA377452765 |
45 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 46 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377452707 rs1307327090 |
48 | T>A | No |
ClinGen TOPMed |
|
|
CA5586449 rs753870982 |
48 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586447 rs3750823 |
49 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5586445 rs573069934 |
49 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
VAR_019801 CA5586446 rs3750823 |
49 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5586444 rs573069934 |
49 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769622805 CA5586442 |
50 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427322060 CA377452658 |
50 | K>R | No |
ClinGen gnomAD |
|
|
CA377452646 rs1564736457 |
51 | D>N | No |
ClinGen Ensembl |
|
|
rs748182011 CA5586441 |
51 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs200500870 CA5586438 |
53 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA377452461 rs1564736417 |
55 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs758783725 CA5586436 |
55 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA377475268 rs1564733106 |
59 | P>R | No |
ClinGen Ensembl |
|
|
CA377475261 rs1233878892 |
60 | Y>F | No |
ClinGen TOPMed |
|
|
rs141761713 CA5586396 |
62 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749686962 CA5586397 |
62 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201306617 CA5586398 |
62 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148062644 CA5586395 |
64 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs895297621 CA211227994 |
68 | L>* | No |
ClinGen TOPMed |
|
|
rs781225520 CA5586393 |
69 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755121347 CA5586392 |
70 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1276934269 CA377475205 |
70 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs760503574 CA211227984 |
72 | C>R | No |
ClinGen Ensembl |
|
|
rs529216746 CA5586391 |
75 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377475167 rs1318019353 |
76 | K>E | No |
ClinGen gnomAD |
|
|
CA5586390 rs756939977 |
79 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs753693538 CA377475139 |
80 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377475136 rs1589303567 |
80 | H>P | No |
ClinGen Ensembl |
|
|
CA5586388 rs753693538 |
80 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586387 rs764051825 |
81 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5586385 rs747863038 |
82 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA377475124 rs767106615 |
82 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA5586384 rs767106615 |
82 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1475078344 CA377475118 |
83 | Q>* | No |
ClinGen gnomAD |
|
|
rs377532626 CA5586382 |
84 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759119179 CA5586383 |
84 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377475107 rs1194528297 |
85 | C>R | No |
ClinGen gnomAD |
|
|
rs1268794996 CA377475105 |
85 | C>Y | No |
ClinGen gnomAD |
|
|
CA5586380 rs762579403 |
86 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770191818 CA5586378 |
87 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA377475064 rs1220162686 |
91 | D>E | No |
ClinGen gnomAD |
|
|
CA377475065 rs1589303523 |
91 | D>G | No |
ClinGen Ensembl |
|
|
rs1415130672 CA377475070 |
91 | D>N | No |
ClinGen TOPMed |
|
|
CA5586377 rs748622088 |
93 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1296064771 CA377475039 |
94 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437841620 CA377475038 |
95 | V>I | No |
ClinGen gnomAD |
|
|
rs1365333979 CA377475029 |
96 | K>* | No |
ClinGen gnomAD |
|
|
CA5586376 rs781684937 |
98 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1589303444 CA377474994 |
99 | Y>S | No |
ClinGen Ensembl |
|
|
CA377474988 rs1265377951 |
100 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs765862328 CA211227879 |
100 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765862328 CA5586364 |
100 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762572395 CA5586363 |
101 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1382255609 CA377474982 |
101 | M>T | No |
ClinGen gnomAD |
|
|
rs1292096672 CA377474985 |
101 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1222888069 CA377474977 |
102 | A>P | No |
ClinGen gnomAD |
|
|
rs770100249 CA5586361 |
103 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211227840 rs866515921 |
105 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 107 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377474917 rs1327133691 |
108 | Q>* | No |
ClinGen TOPMed |
|
|
CA377474908 rs1364655727 |
109 | V>I | No |
ClinGen gnomAD |
|
|
rs1291739693 CA377474886 |
110 | K>T | No |
ClinGen gnomAD |
|
|
CA377474876 rs1459345190 |
111 | Q>E | No |
ClinGen gnomAD |
|
|
CA377474848 rs1351728448 |
112 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA377474839 rs1165546005 |
113 | V>L | No |
ClinGen gnomAD |
|
|
rs11202271 CA211227836 |
114 | L>M | No |
ClinGen gnomAD |
|
|
CA377474829 rs11202271 |
114 | L>V | No |
ClinGen gnomAD |
|
|
rs969969419 CA211227830 |
115 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5586359 rs777062067 |
118 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190010443 CA377474747 |
119 | W>C | No |
ClinGen gnomAD |
|
|
rs1489733571 CA377474734 |
120 | R>S | No |
ClinGen gnomAD |
|
|
rs1351936738 CA377474686 |
123 | P>S | No |
ClinGen TOPMed |
|
|
CA377474663 rs1286694366 |
125 | Y>H | No |
ClinGen gnomAD |
|
|
CA5586357 rs141174803 |
126 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141174803 CA5586356 |
126 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs867141071 CA211227819 |
128 | P>H | No |
ClinGen gnomAD |
|
|
CA5586354 rs746060973 |
129 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298881627 CA377474598 |
129 | N>S | No |
ClinGen gnomAD |
|
|
rs779310237 CA5586353 |
130 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377474581 rs1294266337 |
130 | C>Y | No |
ClinGen gnomAD |
|
|
CA211227804 rs145900392 |
131 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1161673291 CA377474558 |
131 | E>G | No |
ClinGen gnomAD |
|
|
CA5586351 rs145900392 |
131 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145900392 CA377474568 |
131 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377474522 rs1469400177 |
133 | H>Y | No |
ClinGen TOPMed |
|
|
rs1197168352 CA377474505 |
134 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1197168352 CA377474503 |
134 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5586324 rs534748112 |
136 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5586323 rs534748112 |
136 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764492051 CA5586322 |
139 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA377474351 rs1461995667 |
140 | E>Q | No |
ClinGen TOPMed |
|
|
CA5586320 rs370208014 |
142 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5586321 rs374953838 |
142 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA211227714 rs374953838 |
142 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5586319 rs768151767 |
143 | D>E | No |
ClinGen ExAC |
|
|
CA211227711 rs981214919 |
143 | D>Y | No |
ClinGen Ensembl |
|
|
CA5586318 rs759624092 |
144 | P>S | No |
ClinGen ExAC |
|
|
CA5586317 rs774569445 |
147 | S>C | No |
ClinGen ExAC |
|
|
CA5586316 rs771182905 |
147 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs149063682 CA211227701 |
147 | S>R | No |
ClinGen ESP gnomAD |
|
|
CA5586315 rs749493877 |
149 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1022802614 CA211227693 |
150 | E>G | No |
ClinGen Ensembl |
|
|
rs1391183134 CA377474207 |
150 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs768448464 CA5586313 |
151 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586312 rs200625227 |
153 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 153 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5586310 rs758325850 |
154 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs778376517 CA5586308 |
157 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756803271 CA5586307 |
159 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA377474052 rs756803271 |
159 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1220746642 CA377473935 |
161 | G>D | No |
ClinGen Ensembl |
|
|
rs1280475121 CA377473919 |
162 | H>R | No |
ClinGen gnomAD |
|
|
rs745777245 CA5586288 |
164 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1189236287 CA377473897 |
164 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 165 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770430000 CA5586286 |
167 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586285 rs748761896 |
168 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586284 rs777417600 |
170 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5586283 rs528405277 |
172 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377473804 rs185423584 |
173 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5586282 rs185423584 |
173 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781661473 CA5586281 |
174 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs752063792 CA5586279 |
176 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA377473764 rs1589302916 |
176 | Q>H | No |
ClinGen Ensembl |
|
|
CA5586278 rs373110131 |
177 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1171599776 CA377473740 |
178 | E>D | No |
ClinGen TOPMed |
|
|
rs1032301215 CA211227392 |
178 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5586277 rs139390664 |
179 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 180 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5586273 rs61736566 |
182 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61736566 CA5586274 |
182 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377473687 rs1397073015 |
183 | D>N | No |
ClinGen gnomAD |
|
|
CA377473600 rs1269845841 |
188 | V>M | No |
ClinGen TOPMed |
|
|
rs1589302881 CA377473578 |
189 | H>P | No |
ClinGen Ensembl |
|
|
rs1362996623 CA377473582 |
189 | H>Y | No |
ClinGen TOPMed |
|
|
rs374898130 CA211227382 |
190 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5586271 rs374898130 |
190 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776882013 CA5586272 |
190 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211227380 rs1012555374 |
191 | V>A | No |
ClinGen TOPMed |
|
|
rs563085631 CA5586270 |
192 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs941153079 CA377473520 |
193 | D>E | No |
ClinGen Ensembl |
|
|
CA377473527 rs1345413699 |
193 | D>G | No |
ClinGen gnomAD |
|
|
CA5586269 rs774220628 |
193 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770779227 CA5586268 |
194 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs371388182 CA5586265 |
198 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1389687341 CA377473422 |
200 | K>E | No |
ClinGen gnomAD |
|
|
CA211227359 rs933925849 |
201 | A>V | No |
ClinGen TOPMed |
|
|
rs755337097 CA5586262 |
205 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA377473344 rs1242916899 |
205 | N>Y | No |
ClinGen gnomAD |
|
|
rs1441069481 CA377473311 |
207 | T>I | No |
ClinGen gnomAD |
|
|
CA5586261 rs1873808 |
208 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5586260 rs780628704 |
213 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs143561077 CA5586259 |
216 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs140040286 | 218 | H>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146064149 COSM1967871 CA5586256 |
219 | E>K | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5586257 rs146064149 |
219 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1355227960 CA377473158 COSM3665934 |
221 | P>S | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1403870964 CA377473149 |
222 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA211227242 rs532518866 |
222 | D>G | No |
ClinGen TOPMed |
|
|
rs766059395 CA5586232 |
223 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA211227238 rs1042276707 |
224 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA377473115 rs1324151686 |
227 | Q>H | No |
ClinGen TOPMed |
|
|
CA377473113 rs1393935987 |
228 | V>L | No |
ClinGen TOPMed |
|
|
CA377473097 rs1326016119 |
231 | P>S | No |
ClinGen TOPMed |
|
|
rs765224698 CA5586229 |
232 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586230 rs765224698 |
232 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586228 rs761904292 |
232 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA5586226 rs199678139 |
233 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5586225 rs746626361 |
235 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5586224 rs775242577 |
235 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5586223 rs772279359 |
237 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs746261001 CA5586222 |
238 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779225957 CA5586221 |
238 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586220 rs757757789 |
239 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA377473051 rs1391943486 |
239 | V>M | No |
ClinGen gnomAD |
|
|
rs928111014 CA211227225 |
243 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA377473018 rs928111014 |
243 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs982608887 CA211227222 |
244 | I>V | No |
ClinGen TOPMed |
|
|
CA377472996 rs1182465101 |
246 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 247 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396727796 CA377472992 |
247 | S>N | No |
ClinGen gnomAD |
|
|
CA377472948 rs1589302629 |
253 | H>P | No |
ClinGen Ensembl |
|
|
CA5586218 rs777809489 |
253 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756227622 CA5586217 |
255 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs773239184 CA211227210 |
259 | I>V | No |
ClinGen gnomAD |
|
|
rs1420278294 CA377472522 |
261 | N>D | No |
ClinGen gnomAD |
|
|
rs1189921736 CA377472510 |
262 | L>M | No |
ClinGen gnomAD |
|
|
CA377472506 rs1469434939 |
262 | L>P | No |
ClinGen gnomAD |
|
|
rs908550954 CA211227203 |
264 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA377472492 rs1564732462 |
264 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 265 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377472478 rs1207756978 |
265 | D>V | No |
ClinGen gnomAD |
|
|
CA211227194 rs200581114 |
266 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5586215 rs200581114 |
266 | V>M | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5586214 rs758061462 |
267 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5586213 rs536767309 |
268 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 268 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765178051 CA5586212 |
269 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586211 rs761816310 |
270 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586210 rs79370279 |
270 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761816310 CA377472431 |
270 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377472410 rs1250374455 |
271 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA377472407 rs975588816 |
272 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs975588816 CA211227169 |
272 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1386727152 CA377472397 |
273 | I>V | No |
ClinGen gnomAD |
|
|
CA5586209 rs146372752 |
274 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5586207 rs760286876 |
276 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs774951001 CA5586206 |
278 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1455939544 CA377472332 |
279 | S>G | No |
ClinGen gnomAD |
|
|
CA211227133 rs867896930 |
281 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA377472298 rs1263427281 |
282 | A>G | No |
ClinGen gnomAD |
|
|
rs1463319146 CA377472304 |
282 | A>T | No |
ClinGen gnomAD |
|
|
CA5586205 rs771764748 |
285 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1589302522 CA377472252 |
286 | F>L | No |
ClinGen Ensembl |
|
|
rs759182831 CA377472243 |
287 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA5586204 rs759182831 |
287 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs771334698 CA377472216 |
290 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570773399 CA5586203 |
290 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771334698 CA5586202 |
290 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211227112 rs373702337 |
291 | A>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5586201 rs749765361 |
294 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1189907012 CA377472186 |
295 | A>T | No |
ClinGen TOPMed |
|
|
rs1324697738 CA377472183 |
295 | A>V | No |
ClinGen gnomAD |
|
|
rs769805644 CA5586199 |
296 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377472169 rs1346768608 |
297 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211227100 rs966379200 |
299 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5586196 rs149520787 |
302 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA211227086 rs1021062847 |
305 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs755210826 CA5586195 |
306 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1374255699 CA377472110 |
306 | Q>R | No |
ClinGen gnomAD |
|
|
CA5586194 rs751775360 |
308 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA377472100 rs376011130 |
308 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376011130 CA5586193 |
308 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377472084 rs1253891636 |
310 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA377472090 rs1325557097 |
310 | D>N | No |
ClinGen TOPMed |
|
|
CA5586192 rs757147151 |
311 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs764143716 CA5586189 |
314 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586188 rs368943839 |
314 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766994960 CA5586187 CA377472046 |
316 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586185 COSM296850 rs138085924 |
317 | A>T | pancreas large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 318 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564732328 CA377472025 |
319 | H>Q | No |
ClinGen Ensembl |
|
|
rs1356448386 CA377472030 |
319 | H>Y | No |
ClinGen gnomAD |
|
|
rs1357439618 CA377472022 |
320 | F>V | No |
ClinGen gnomAD |
|
|
CA377472016 rs935018998 |
321 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA211227017 rs935018998 |
321 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs763318289 CA5586181 |
322 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA377472007 rs1434317247 |
323 | H>N | No |
ClinGen gnomAD |
|
|
rs1167979151 CA377472001 |
323 | H>Q | No |
ClinGen gnomAD |
|
|
rs376575577 CA211227004 |
324 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA211227007 rs376575577 |
324 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA377471998 rs1457155695 |
324 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs773640792 CA5586179 |
325 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA377471978 rs1475423403 |
327 | S>L | No |
ClinGen gnomAD |
|
|
rs781305769 CA5586176 |
330 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1196452824 CA377471951 |
331 | A>V | No |
ClinGen gnomAD |
|
|
rs777780619 CA377471945 |
332 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5586172 COSM921007 rs749102637 |
332 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5586171 rs749102637 |
332 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452006900 CA377471935 |
334 | D>G | No |
ClinGen gnomAD |
|
|
rs756070358 CA5586169 |
334 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5586168 rs752626400 |
335 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA377471926 rs1277404428 |
336 | K>Q | No |
ClinGen Ensembl |
|
|
rs767025550 CA5586167 |
338 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs754481215 CA5586166 |
338 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762656559 CA5586163 |
342 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs371928522 CA211226966 |
343 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5586162 rs371928522 |
343 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377471859 rs1233222636 |
345 | E>D | No |
ClinGen TOPMed |
|
|
CA377471862 rs1411027218 |
345 | E>G | No |
ClinGen gnomAD |
|
|
rs765570330 CA5586161 |
346 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5586160 rs762350147 |
349 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5586158 rs768730692 |
350 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5586157 rs747075259 |
352 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA5586155 rs772420435 |
354 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772420435 CA377471807 |
354 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267966103 CA377471799 |
356 | A>T | No |
ClinGen gnomAD |
|
|
CA5586153 rs147017508 |
357 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5586151 rs142689484 |
359 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1233116808 CA377471771 |
360 | A>G | No |
ClinGen gnomAD |
|
|
CA377471759 rs1327307792 |
362 | A>T | No |
ClinGen gnomAD |
|
|
rs1441370757 CA377471728 |
365 | E>K | No |
ClinGen gnomAD |
|
|
CA5586148 rs751062543 |
366 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586149 rs751062543 |
366 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1725905 rs750115078 CA5586145 |
367 | D>E | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1564732238 CA377471679 |
369 | L>P | No |
ClinGen Ensembl |
|
|
rs765596426 CA5586144 |
370 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA5586143 rs762105803 |
371 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586142 rs764514943 CA5586141 |
372 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529808922 CA5586139 |
375 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5586135 rs774749115 |
381 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746061083 CA5586136 |
381 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377471547 rs1234390952 |
382 | E>G | No |
ClinGen gnomAD |
|
|
CA377471540 rs769585175 |
383 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268070044 CA377471528 |
384 | H>Y | No |
ClinGen gnomAD |
|
|
rs138621439 CA5586133 |
385 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1270087130 CA377471501 |
386 | T>I | No |
ClinGen TOPMed |
|
|
rs1345619293 CA377471503 |
386 | T>S | No |
ClinGen gnomAD |
|
|
rs768461387 CA5586131 |
387 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779507287 CA5586129 |
389 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs757933768 CA5586128 |
389 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA5586127 rs750028252 |
390 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1033563788 CA211226902 |
394 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5586125 rs145792105 |
395 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370311170 CA5586124 |
396 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 396 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764579456 CA5586123 |
397 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs140752811 CA5586121 |
399 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377471336 rs1460644485 |
401 | M>T | No |
ClinGen TOPMed |
|
|
rs1270245592 CA377471325 |
402 | R>K | No |
ClinGen gnomAD |
|
|
rs924666260 CA211226871 |
404 | T>I | No |
ClinGen Ensembl |
|
|
CA211226869 rs374823181 |
405 | L>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs767668651 CA5586120 |
405 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs374823181 CA211226866 |
405 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs759713989 CA5586119 |
406 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA377471281 rs200264249 |
407 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5586118 rs200264249 |
407 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5586117 rs771051131 |
408 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586116 rs763290902 |
409 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377471268 rs763290902 |
409 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1004290020 CA211226838 |
411 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5586112 rs779988022 |
417 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377471190 rs1589302111 |
417 | S>F | No |
ClinGen Ensembl |
|
|
rs771512296 CA5586111 COSM197913 |
418 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1259999856 CA377471177 |
419 | S>L | No |
ClinGen gnomAD |
|
|
rs756847926 CA377471170 |
420 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377471166 rs1483703839 |
421 | E>* | No |
ClinGen TOPMed |
|
|
CA377471168 rs1483703839 |
421 | E>K | No |
ClinGen TOPMed |
|
|
rs867442471 CA377471147 |
423 | F>L | No |
ClinGen gnomAD |
|
|
CA5586107 rs753576513 |
424 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM282838 rs753576513 CA377471145 |
424 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA377471137 rs1254832034 |
425 | Q>* | No |
ClinGen TOPMed |
|
|
CA377471127 rs1307505629 |
426 | I>T | No |
ClinGen gnomAD |
|
|
rs1288726135 CA377471119 |
427 | S>I | No |
ClinGen gnomAD |
|
|
rs777969805 CA5586106 |
428 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA211226804 rs959013650 |
428 | K>R | No |
ClinGen Ensembl |
|
|
rs1336720997 CA377471106 |
429 | V>A | No |
ClinGen gnomAD |
|
|
rs1564732123 CA377471103 |
430 | E>Q | No |
ClinGen Ensembl |
|
|
CA5586104 rs753210428 |
431 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA211226791 rs1017626235 |
431 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA377471093 rs200940554 |
432 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951032642 CA211226775 |
432 | Q>H | No |
ClinGen Ensembl |
|
|
CA5586103 rs200940554 |
432 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759625830 CA5586102 |
433 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA377471087 rs1299751015 |
433 | V>L | No |
ClinGen gnomAD |
|
|
rs201945179 CA211226757 |
434 | E>G | No |
ClinGen Ensembl |
|
|
rs1355141274 CA377471081 |
434 | E>Q | No |
ClinGen gnomAD |
|
|
CA5586101 rs751575440 |
435 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA377471058 rs1472142557 |
437 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5586100 rs538271725 |
437 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA211226753 rs921275178 |
438 | V>G | No |
ClinGen TOPMed |
|
|
CA5586099 rs763050868 |
439 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586098 rs773511262 |
440 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs148010690 CA5586097 COSM1215307 |
441 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5586093 rs745876720 |
442 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586094 rs745876720 |
442 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586092 rs773713134 |
442 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA377471027 rs1211489684 |
443 | L>F | No |
ClinGen gnomAD |
|
|
rs544108974 CA5586090 |
444 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5586089 rs777594379 |
445 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs143759935 CA5586088 |
446 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377471006 rs1309090662 |
447 | R>C | No |
ClinGen gnomAD |
|
|
CA377471001 rs748531029 |
448 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM32667 VAR_036362 CA5586087 rs748531029 |
448 | V>M | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
rs1439067471 CA377470968 |
452 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 454 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377470952 rs1469674827 |
455 | L>V | No |
ClinGen gnomAD |
|
|
rs1396964301 CA377470939 |
457 | M>L | No |
ClinGen gnomAD |
|
|
CA5586084 rs752144509 |
458 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA377470928 rs755516197 |
458 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA377470931 TCGA novel rs1589301994 |
458 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA5586085 rs755516197 |
458 | E>V | No |
ClinGen ExAC gnomAD |
|
| rs756368217 | 459 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766325326 CA5586082 |
459 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA377470910 rs1447312176 |
461 | K>E | No |
ClinGen TOPMed |
|
|
rs1018135443 CA377470907 |
461 | K>M | No |
ClinGen TOPMed |
|
|
CA211226700 rs1018135443 |
461 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 462 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381704206 CA377470895 |
463 | E>K | No |
ClinGen TOPMed |
|
|
CA5586080 rs148994068 |
464 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377470888 rs148994068 |
464 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765448448 CA5586078 |
466 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1484789946 CA377470862 |
468 | L>F | No |
ClinGen gnomAD |
|
|
CA377470863 rs1484789946 |
468 | L>V | No |
ClinGen gnomAD |
|
|
rs76587880 CA211226679 |
470 | E>G | No |
ClinGen Ensembl |
|
|
CA5586073 rs555019898 |
470 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555019898 CA5586074 |
470 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377470845 rs1278736873 |
471 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 472 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5586071 rs770301024 |
474 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586070 rs748848456 |
475 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs143864810 CA211226674 |
477 | H>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA377470800 rs1360368773 |
478 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5586069 rs371610334 |
479 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1171699857 CA377470791 |
480 | G>S | No |
ClinGen TOPMed |
|
|
CA5586068 rs572508111 |
481 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377470776 rs1394335124 |
482 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 484 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781660082 CA5586066 |
485 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1000113071 CA211226655 |
488 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1426346526 CA377470729 |
489 | V>A | No |
ClinGen gnomAD |
|
|
CA211226652 CA377470731 rs755397034 |
489 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5586065 rs755397034 |
489 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA5586064 rs747421080 |
490 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377470712 rs1186892256 |
492 | C>S | No |
ClinGen gnomAD |
|
|
CA5586061 rs553974396 |
497 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377470659 rs1256638366 |
498 | Y>* | No |
ClinGen gnomAD |
|
|
CA377470665 rs1350195404 |
498 | Y>N | No |
ClinGen gnomAD |
|
|
CA377470656 rs1325737175 |
499 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1564731972 CA377470646 |
500 | D>A | No |
ClinGen Ensembl |
|
|
rs750511243 CA5586060 |
503 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757450771 CA5586058 |
506 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1355172453 CA377470592 |
509 | R>G | No |
ClinGen gnomAD |
|
|
rs534861482 CA5586057 |
509 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA211226614 rs750530032 |
511 | A>T | No |
ClinGen Ensembl |
|
|
CA377470568 rs1417130615 |
512 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA377470565 rs1166795049 |
513 | R>C | No |
ClinGen gnomAD |
|
|
rs1166795049 CA377470566 |
513 | R>G | No |
ClinGen gnomAD |
|
|
CA5586056 rs767261336 |
513 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA211226613 rs767261336 |
513 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA377470542 rs1280176233 |
517 | E>* | No |
ClinGen TOPMed |
|
|
CA5586055 rs759401753 |
518 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs759401753 CA377470532 |
518 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs774103474 CA5586054 |
520 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248199254 CA377470507 |
522 | L>P | No |
ClinGen TOPMed |
|
|
CA5586049 rs141447174 |
523 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5586051 rs772822797 |
523 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA377470499 rs1195310189 |
524 | E>K | No |
ClinGen gnomAD |
|
|
CA5586047 COSM396362 rs768843742 |
525 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1253323644 CA377470491 COSM1127987 |
525 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA377470484 rs1193900788 |
526 | R>L | No |
ClinGen gnomAD |
|
|
CA5586046 rs146533024 |
526 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377470479 rs1245901261 |
527 | Q>P | No |
ClinGen TOPMed |
|
|
rs980698473 CA211226579 |
529 | D>N | No |
ClinGen TOPMed |
|
|
rs746424798 CA5586043 |
530 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586044 rs772616939 |
530 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772616939 CA377470454 |
530 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586042 rs778934716 |
531 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA377470433 rs1397959596 |
532 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 537 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437528943 CA377470365 |
539 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs757358805 CA5586041 |
540 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5586038 rs754667172 |
542 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs778073215 CA5586039 |
542 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA377470325 rs1468195576 |
543 | V>M | No |
ClinGen gnomAD |
|
|
rs1589301757 CA377470302 |
545 | L>P | No |
ClinGen Ensembl |
|
|
rs1024803046 CA211226550 |
546 | A>T | No |
ClinGen TOPMed |
|
|
CA5586035 rs371708539 |
546 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1237478356 CA377470285 |
547 | V>A | No |
ClinGen gnomAD |
|
|
CA5586033 rs764787567 |
547 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227175606 CA377470271 |
548 | D>E | No |
ClinGen TOPMed |
|
|
rs1268206271 CA377470266 |
549 | A>T | No |
ClinGen TOPMed |
|
|
rs761418106 CA5586030 |
551 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA377470230 rs1275173130 |
552 | A>P | No |
ClinGen gnomAD |
|
|
rs768350317 CA5586027 |
555 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1383924199 CA377470185 |
556 | R>W | No |
ClinGen gnomAD |
|
|
CA211226488 rs899823811 |
558 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1471107925 CA377470167 |
558 | R>W | No |
ClinGen gnomAD |
|
|
CA5586025 rs775903300 |
559 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775903300 CA211226482 |
559 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377470153 rs1453809344 |
560 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA377470154 rs1453809344 |
560 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA377470147 rs1251393963 |
560 | A>V | No |
ClinGen gnomAD |
|
|
rs1215744568 CA377470144 |
561 | T>A | No |
ClinGen gnomAD |
|
|
CA211226478 rs944294419 |
561 | T>R | No |
ClinGen TOPMed |
|
|
CA377470129 rs1406260169 |
563 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 565 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772365182 CA5586024 |
565 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA377470097 rs1232951051 |
566 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA377470099 rs1232951051 |
566 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs746334829 CA5586023 |
568 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA377470052 rs1334582465 |
570 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 571 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377470037 rs1436717726 |
572 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5586022 rs536968071 |
572 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377470042 rs536968071 |
572 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs891410136 CA211226465 |
573 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA377470020 rs1315946968 |
574 | E>Q | No |
ClinGen gnomAD |
|
|
rs1361095241 CA377470007 |
575 | V>L | No |
ClinGen gnomAD |
|
|
rs1041975615 CA377469982 |
577 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA377469986 rs1434215341 |
577 | A>S | No |
ClinGen gnomAD |
|
|
rs1041975615 CA211226464 |
577 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 580 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs914758669 CA211226451 |
582 | A>T | No |
ClinGen TOPMed |
|
|
rs1589301610 CA377469936 |
582 | A>V | No |
ClinGen Ensembl |
|
|
CA377469932 rs1478469556 |
583 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1205742994 CA377469920 |
584 | E>K | No |
ClinGen TOPMed |
|
|
rs1369416152 CA377469875 |
588 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs936430041 CA211226441 |
589 | V>M | No |
ClinGen TOPMed |
|
|
CA5586016 rs200124789 COSM4144941 |
590 | R>H | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs752900066 CA5586017 |
590 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA5586015 rs758285858 |
592 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs757330570 CA5586012 |
594 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5586011 rs753383570 |
594 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 595 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5586010 rs763560295 |
595 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 596 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 598 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 601 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309128026 CA377469714 |
603 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA377469712 rs767874310 |
604 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1166324242 CA377469702 COSM1257842 |
605 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs375797182 CA5586006 |
605 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs951193053 CA211226383 |
606 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5586005 rs774776451 |
607 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA377469685 rs1234489479 |
607 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5586004 rs771428530 |
609 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211226373 rs771428530 |
609 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436667116 CA377469659 |
610 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 611 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1270483807 CA377469636 |
612 | A>E | No |
ClinGen gnomAD |
|
|
CA377469640 rs1281207137 |
612 | A>T | No |
ClinGen gnomAD |
|
|
CA5586003 rs565814756 |
615 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372410502 CA5586001 |
618 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377469590 rs1448873502 |
619 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 621 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745654101 CA5585996 |
622 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5585997 rs758197640 |
622 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585995 rs149985544 |
623 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1198869255 CA377469533 |
624 | E>K | No |
ClinGen TOPMed |
|
|
rs139300968 CA377469493 |
626 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5585993 rs139300968 |
626 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377469497 rs1255544601 |
626 | T>S | No |
ClinGen TOPMed |
|
|
COSM3686905 CA377469471 rs1230654470 |
627 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA377469442 rs1200203159 COSM231218 |
629 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs752336860 CA5585989 |
631 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA377469393 rs1313392501 |
632 | L>R | No |
ClinGen gnomAD |
|
|
rs1042334548 CA211226276 |
633 | S>G | No |
ClinGen TOPMed |
|
|
rs759255544 CA5585988 |
634 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1301801559 CA377469343 |
635 | E>D | No |
ClinGen TOPMed |
|
|
CA377469359 rs1589301429 |
635 | E>K | No |
ClinGen Ensembl |
|
|
CA377469336 rs1372761932 |
636 | Q>* | No |
ClinGen gnomAD |
|
|
rs1277845509 CA377469330 |
636 | Q>L | No |
ClinGen gnomAD |
|
|
rs374420750 CA5585986 |
639 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1325406704 CA377469277 |
640 | A>S | No |
ClinGen gnomAD |
|
|
rs1351951388 CA377469245 |
642 | Q>H | No |
ClinGen gnomAD |
|
|
rs1054658985 CA377469229 |
643 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1044824245 CA211226247 |
645 | A>G | No |
ClinGen TOPMed |
|
|
rs773611318 CA5585984 |
645 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585983 rs773611318 |
645 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211226246 rs1044824245 |
645 | A>V | No |
ClinGen TOPMed |
|
|
rs1439708604 CA377469164 |
648 | L>R | No |
ClinGen gnomAD |
|
|
CA5585980 rs748177171 |
649 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265791409 CA377469134 |
651 | Q>E | No |
ClinGen gnomAD |
|
|
rs1215058015 CA377469082 |
654 | G>R | No |
ClinGen gnomAD |
|
|
rs768986898 CA5585978 |
657 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768986898 CA211226231 |
657 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377468992 rs1464735940 |
659 | A>V | No |
ClinGen TOPMed |
|
|
CA377468991 rs747282226 |
660 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585977 rs747282226 |
660 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401020129 CA377468979 |
660 | A>V | No |
ClinGen gnomAD |
|
|
CA5585976 rs778817861 |
661 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302990648 CA377468972 |
661 | R>P | No |
ClinGen gnomAD |
|
|
rs1564731678 CA377468965 |
662 | V>L | No |
ClinGen Ensembl |
|
|
CA211226215 rs543998825 |
663 | T>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA377468948 rs1294485262 |
664 | A>T | No |
ClinGen gnomAD |
|
|
CA211226198 rs963847749 |
665 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201524576 CA5585973 |
668 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377468869 rs1419808712 |
670 | E>K | No |
ClinGen gnomAD |
|
|
CA377468822 rs1171422014 |
673 | R>W | No |
ClinGen gnomAD |
|
|
rs755586096 CA5585972 |
674 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1008325457 CA211226176 |
675 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 676 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211226152 rs955534413 |
679 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 681 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377468682 rs1266315023 |
682 | H>Q | No |
ClinGen TOPMed |
|
|
rs752147894 CA5585971 |
682 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258286036 CA377468676 |
683 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1354563146 CA377468656 |
684 | A>E | No |
ClinGen gnomAD |
|
|
rs1217200371 CA377468663 |
684 | A>T | No |
ClinGen gnomAD |
|
|
CA5585969 rs754607413 |
685 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585970 rs780740666 |
685 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA377468639 rs754607413 |
685 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585968 rs751256828 |
686 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751256828 CA377468636 |
686 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382030731 CA377468620 |
687 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA377468615 rs1484749260 |
687 | E>G | No |
ClinGen gnomAD |
|
|
CA377468624 rs1382030731 |
687 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA377468607 rs1300629197 |
688 | E>K | No |
ClinGen gnomAD |
|
|
CA377468601 rs1401123266 |
688 | E>V | No |
ClinGen gnomAD |
|
|
CA211226107 rs1010480626 |
689 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1467074904 CA377468579 |
689 | A>V | No |
ClinGen gnomAD |
|
|
CA5585966 rs763236264 |
690 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA377468542 rs1216789846 |
692 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1425470056 CA377468526 |
694 | L>P | No |
ClinGen gnomAD |
|
|
CA5585965 rs750872707 |
694 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA377468521 rs1194372112 |
695 | A>S | No |
ClinGen gnomAD |
|
|
rs1198810513 CA377468506 |
696 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA377468508 rs1198810513 |
696 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs776827575 CA5585963 |
696 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776827575 CA5585962 |
696 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779534804 CA5585961 |
698 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760938807 CA377468468 |
699 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1239453 rs760938807 CA5585960 |
699 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs770794429 CA5585958 |
700 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280479864 CA377468442 |
701 | L>F | No |
ClinGen gnomAD |
|
|
rs749043609 CA5585957 |
702 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1332704892 CA377468412 |
703 | S>G | No |
ClinGen gnomAD |
|
|
CA377468415 rs1332704892 |
703 | S>R | No |
ClinGen gnomAD |
|
|
rs1045189061 CA211226079 |
703 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5585956 rs777694013 |
704 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460138557 CA377468347 |
707 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs748170086 CA5585954 |
709 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 709 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754502843 CA5585952 |
711 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377468282 rs1415604960 |
711 | V>I | No |
ClinGen gnomAD |
|
|
rs1256923297 CA377468265 |
712 | G>R | No |
ClinGen gnomAD |
|
|
rs1195506883 CA377468248 |
713 | R>Q | No |
ClinGen gnomAD |
|
|
rs1260169150 CA377468231 |
714 | C>* | No |
ClinGen gnomAD |
|
|
rs1456609259 CA377468240 |
714 | C>Y | No |
ClinGen gnomAD |
|
|
CA377468223 rs1199682423 |
715 | C>Y | No |
ClinGen gnomAD |
|
|
CA211226006 rs976484597 |
716 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA377468166 rs1443850264 |
718 | E>G | No |
ClinGen gnomAD |
|
|
CA377468175 rs1305666172 |
718 | E>K | No |
ClinGen gnomAD |
|
|
CA377468158 rs1402038239 |
719 | A>T | No |
ClinGen gnomAD |
|
|
rs1460755879 CA377468141 |
720 | G>R | No |
ClinGen gnomAD |
|
|
CA5585944 rs963818658 |
721 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5585941 rs764221591 CA211225965 |
722 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA377468095 rs775790019 |
724 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5585939 rs775790019 |
724 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5585936 rs772181211 |
725 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1299962573 CA377468069 |
727 | N>D | No |
ClinGen TOPMed |
|
|
rs759863242 CA5585935 |
727 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5585934 rs200709835 |
728 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377468063 rs200709835 |
728 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA377468054 rs769674841 |
729 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585933 rs769674841 |
729 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377468051 rs1357673791 |
730 | L>F | No |
ClinGen gnomAD |
|
|
CA5585929 VAR_019802 rs4934281 |
731 | H>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA211225897 rs1001802359 |
732 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA211225896 rs1001802359 |
732 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5585926 rs757963441 |
733 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA377468034 rs1329191218 |
733 | L>R | No |
ClinGen gnomAD |
|
|
CA5585925 rs745572142 |
734 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384180649 CA377468014 |
736 | A>S | No |
ClinGen gnomAD |
|
|
rs757661512 CA5585923 |
737 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754340576 CA5585922 |
739 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377467987 rs1382218671 |
740 | T>I | No |
ClinGen gnomAD |
|
|
CA211225867 rs370702596 CA5585919 |
741 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756753246 CA5585921 |
741 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756753246 CA5585920 |
741 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201477469 CA377467977 |
742 | R>L | No |
ClinGen gnomAD |
|
|
rs757377764 CA211225862 |
742 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200920884 CA5585918 |
743 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377467956 rs1215045810 |
745 | E>D | No |
ClinGen gnomAD |
|
|
rs759649804 CA5585917 |
745 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585916 rs142843241 |
746 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764879946 CA5585915 |
747 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5585914 rs776475051 |
749 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199807971 CA5585912 |
752 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA377467860 rs746996603 |
753 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585910 rs575935093 |
754 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771642481 CA5585909 |
755 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs745461923 CA5585908 |
758 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA377467782 rs1319405060 |
760 | G>E | No |
ClinGen gnomAD |
|
|
CA377467787 rs1401747820 |
760 | G>R | No |
ClinGen gnomAD |
|
|
CA377467766 rs1298885800 |
762 | M>V | No |
ClinGen gnomAD |
|
|
CA5585907 rs554439647 |
763 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs184131345 CA5585906 |
765 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749667808 CA377467700 |
767 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs749667808 CA5585905 |
767 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA211225829 rs1048630379 |
771 | G>E | No |
ClinGen Ensembl |
|
|
CA5585904 rs778341435 |
772 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs147130627 CA211225802 |
774 | Q>P | No |
ClinGen ESP gnomAD |
|
|
CA5585902 rs753300253 |
775 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs755111074 CA5585900 |
777 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5585901 rs767459365 |
777 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585899 rs751663012 |
778 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5585898 rs766614723 |
778 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377467584 rs766614723 |
778 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585897 rs374818538 CA5585896 |
778 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA211225798 rs766614723 |
778 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211225776 rs754142356 |
781 | G>R | No |
ClinGen gnomAD |
|
|
rs752890121 CA211225771 |
782 | K>R | No |
ClinGen Ensembl |
|
|
rs201324324 CA5585895 |
783 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276056343 CA377467483 |
787 | D>A | No |
ClinGen gnomAD |
|
|
rs1220469122 CA377467447 |
790 | A>V | No |
ClinGen gnomAD |
|
|
rs760563856 CA377467440 |
791 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585894 rs760563856 |
791 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771425042 CA5585892 |
792 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585893 rs771425042 |
792 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771425042 CA377467430 |
792 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377467432 rs1292543261 |
792 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745388723 CA5585891 |
794 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA5585889 rs770694559 |
795 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211225748 rs764326638 |
795 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 795 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5585890 rs773801041 |
795 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377467386 rs1434022667 |
796 | K>M | No |
ClinGen gnomAD |
|
| TCGA novel | 796 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5585888 rs749001193 |
798 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778253708 CA5585887 |
799 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs547343280 CA377467306 |
803 | V>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA211225732 rs547343280 |
803 | V>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA5585883 rs755499732 |
805 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377467277 rs1436860288 |
806 | R>Q | No |
ClinGen gnomAD |
|
|
rs1210460438 CA377467278 |
806 | R>W | No |
ClinGen gnomAD |
|
|
rs780044405 CA5585881 |
810 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA377467221 rs1292635437 |
812 | P>S | No |
ClinGen gnomAD |
|
|
CA377467202 rs1456389887 |
814 | A>S | No |
ClinGen gnomAD |
|
|
rs758587039 CA5585880 |
816 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs760475843 CA377467169 |
817 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585878 rs763827897 |
817 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5585877 rs760475843 |
817 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448476884 CA377467166 |
818 | A>S | No |
ClinGen TOPMed |
|
|
CA5585875 rs767487098 |
821 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs759451262 CA5585874 |
822 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs767266885 CA5585857 |
824 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749383922 CA211222511 |
825 | P>L | No |
ClinGen Ensembl |
|
|
rs150335178 CA5585856 |
826 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377466552 rs1309550333 |
826 | V>L | No |
ClinGen Ensembl |
|
|
rs762570476 CA5585853 |
828 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA211222490 rs910803771 |
830 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5585852 rs772919476 |
831 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA377466477 rs1247251171 |
831 | S>R | No |
ClinGen gnomAD |
|
|
VAR_053076 rs36073867 CA5585851 |
831 | S>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA377466419 rs1473047203 |
834 | E>V | No |
ClinGen TOPMed |
|
|
CA377466401 rs1589298226 |
835 | G>E | No |
ClinGen Ensembl |
|
|
rs761418927 CA5585850 |
836 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354692930 CA377466384 |
837 | A>T | No |
ClinGen gnomAD |
|
|
rs1408271225 CA377466341 |
840 | Q>P | No |
ClinGen TOPMed |
|
|
CA5585847 rs747499715 |
843 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370137978 CA377466261 |
845 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA377466252 rs1589298191 |
846 | T>P | No |
ClinGen Ensembl |
|
|
rs998946334 CA211222442 |
849 | I>S | No |
ClinGen Ensembl |
|
|
rs201470812 CA211222437 |
851 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201470812 CA5585844 |
851 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377466105 rs1384976518 |
852 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs757480907 CA5585842 |
853 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA5585841 rs749514966 |
855 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377466040 rs1434730687 |
857 | P>T | No |
ClinGen gnomAD |
|
|
CA377466018 rs1274932693 |
858 | E>G | No |
ClinGen TOPMed |
|
|
CA5585840 rs781003547 |
863 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA5585839 rs751487507 |
863 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585838 rs751487507 |
863 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585837 rs766427968 |
864 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA377465904 rs1564729537 |
865 | P>S | No |
ClinGen Ensembl |
|
|
rs758463929 CA5585835 |
866 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5585834 rs749927225 |
867 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5585832 rs202191624 |
867 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202191624 CA5585833 |
867 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776167844 CA5585831 |
868 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs760950750 CA5585829 |
869 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA377465832 rs1589298137 |
870 | Y>C | No |
ClinGen Ensembl |
|
|
CA5585828 rs775899067 |
870 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA377465769 rs1400115270 |
874 | V>L | No |
ClinGen gnomAD |
|
|
rs1400836687 CA377465733 |
875 | S>R | No |
ClinGen gnomAD |
|
|
rs377460418 CA5585825 |
876 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371372922 CA5585826 |
876 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377465731 rs371372922 |
876 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 877 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756270817 CA211222351 |
880 | P>L | No |
ClinGen Ensembl |
|
|
rs1359599596 CA377465679 |
882 | P>L | No |
ClinGen gnomAD |
|
|
rs1425721526 CA377465666 |
885 | G>R | No |
ClinGen gnomAD |
|
|
rs1005494699 CA211222325 |
886 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs373201619 CA211222319 |
889 | F>L | No |
ClinGen ESP TOPMed |
|
|
CA5585822 rs371020260 |
894 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1255537836 CA377465606 |
894 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5585821 rs371020260 |
894 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754739852 CA5585820 |
895 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5585818 rs780039649 |
898 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780039649 CA377465582 |
898 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1745946 CA5585816 rs750415616 CA377465555 |
902 | Q>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA377465550 rs1260594129 |
903 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA377465548 rs1228766975 |
904 | S>G | No |
ClinGen gnomAD |
|
|
CA5585814 rs756729371 |
904 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA5585815 rs756729371 |
904 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5585812 rs763649093 |
906 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs760433536 CA5585811 |
906 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA211222285 rs957946481 |
908 | A>P | No |
ClinGen TOPMed |
|
|
CA5585809 rs570128351 |
909 | T>M | No |
ClinGen 1000Genomes ExAC |
|
|
VAR_053077 rs34587013 CA5585806 |
910 | V>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5585804 rs770988319 |
911 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA211222243 rs923339617 |
912 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA211222238 rs970525777 |
913 | M>I | No |
ClinGen TOPMed |
|
|
rs146646165 CA5585802 |
913 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5585803 rs762950255 |
913 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs376535800 CA211222232 |
914 | A>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5585801 rs568385595 |
915 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs74794209 CA211222211 |
919 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs74794209 CA5585800 |
919 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585799 rs372692050 |
920 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5585798 rs772012647 |
921 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546562967 CA5585797 |
921 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1478571986 CA377465425 |
924 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 925 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5585794 rs757284865 |
928 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1383439074 CA377465391 |
929 | G>E | No |
ClinGen TOPMed |
|
|
CA5585793 rs753274429 |
929 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs777392132 CA377465387 |
930 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777392132 CA5585792 |
930 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5585791 rs755734083 |
932 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs752380026 CA5585790 |
934 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA377465356 rs1385953755 |
935 | S>G | No |
ClinGen gnomAD |
|
|
rs767823427 CA5585789 |
935 | S>I | No |
ClinGen ExAC |
|
|
rs759909837 CA5585787 |
935 | S>R | No |
ClinGen ExAC |
|
|
CA211222099 rs778495517 |
937 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs374811108 CA5585783 |
938 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377465341 rs1385918587 |
938 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs374811108 CA5585782 |
938 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1438064382 CA377465332 |
939 | T>I | No |
ClinGen gnomAD |
|
|
rs372464092 CA5585781 |
940 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5585780 rs777003841 |
941 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs771924834 CA5585779 |
941 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA5585778 rs745652497 |
942 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA377465313 rs1277490154 |
943 | G>C | No |
ClinGen TOPMed |
|
|
CA211222059 rs1008431073 |
946 | M>K | No |
ClinGen TOPMed |
|
|
rs1284679791 CA377465264 |
950 | T>G | No |
ClinGen gnomAD |
No associated diseases with Q9H8L6
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| basement membrane | A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. |
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| cell migration involved in sprouting angiogenesis | The orderly movement of endothelial cells into the extracellular matrix in order to form new blood vessels involved in sprouting angiogenesis. |
| negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis | Any process that stops, prevents or reduces the frequency, rate or extent of blood vessel endothelial cell proliferation involved in sprouting angiogenesis. |
| negative regulation of cell migration | Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. |
| negative regulation of cell migration involved in sprouting angiogenesis | Any process that decreases the frequency, rate or extent of cell migration involved in sprouting angiogenesis. Cell migration involved in sprouting angiogenesis is the orderly movement of endothelial cells into the extracellular matrix in order to form new blood vessels contributing to the process of sprouting angiogenesis. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of vascular endothelial growth factor receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of vascular endothelial growth factor receptor signaling pathway activity. |
| positive regulation of defense response to bacterium | Any process that activates or increases the frequency, rate or extent of defense response to bacterium. |
| positive regulation of epithelial tube formation | Any process that activates or increases the frequency, rate or extent of epithelial tube formation. |
| positive regulation of morphogenesis of an epithelium | Any process that activates or increases the frequency, rate or extent of morphogenesis of an epithelium. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MILSLLFSLG | GPLGWGLLGA | WAQASSTSLS | DLQSSRTPGV | WKAEAEDTGK | DPVGRNWCPY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PMSKLVTLLA | LCKTEKFLIH | SQQPCPQGAP | DCQKVKVMYR | MAHKPVYQVK | QKVLTSLAWR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CCPGYTGPNC | EHHDSMAIPE | PADPGDSHQE | PQDGPVSFKP | GHLAAVINEV | EVQQEQQEHL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LGDLQNDVHR | VADSLPGLWK | ALPGNLTAAV | MEANQTGHEF | PDRSLEQVLL | PHVDTFLQVH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FSPIWRSFNQ | SLHSLTQAIR | NLSLDVEANR | QAISRVQDSA | VARADFQELG | AKFEAKVQEN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TQRVGQLRQD | VEDRLHAQHF | TLHRSISELQ | ADVDTKLKRL | HKAQEAPGTN | GSLVLATPGA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GARPEPDSLQ | ARLGQLQRNL | SELHMTTARR | EEELQYTLED | MRATLTRHVD | EIKELYSESD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ETFDQISKVE | RQVEELQVNH | TALRELRVIL | MEKSLIMEEN | KEEVERQLLE | LNLTLQHLQG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GHADLIKYVK | DCNCQKLYLD | LDVIREGQRD | ATRALEETQV | SLDERRQLDG | SSLQALQNAV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DAVSLAVDAH | KAEGERARAA | TSRLRSQVQA | LDDEVGALKA | AAAEARHEVR | QLHSAFAALL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EDALRHEAVL | AALFGEEVLE | EMSEQTPGPL | PLSYEQIRVA | LQDAASGLQE | QALGWDELAA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RVTALEQASE | PPRPAEHLEP | SHDAGREEAA | TTALAGLARE | LQSLSNDVKN | VGRCCEAEAG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| AGAASLNASL | HGLHNALFAT | QRSLEQHQRL | FHSLFGNFQG | LMEANVSLDL | GKLQTMLSRK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GKKQQKDLEA | PRKRDKKEAE | PLVDIRVTGP | VPGALGAALW | EAGSPVAFYA | SFSEGTAALQ |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TVKFNTTYIN | IGSSYFPEHG | YFRAPERGVY | LFAVSVEFGP | GPGTGQLVFG | GHHRTPVCTT |
| 910 | 920 | 930 | 940 | ||
| GQGSGSTATV | FAMAELQKGE | RVWFELTQGS | ITKRSLSGTA | FGGFLMFKT |