Q9HC56
PR
Gene name |
PCDH9 |
Protein name |
Protocadherin-9 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5101 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q9HC56
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2EE0 | NMR | - | A | 246-352 | PDB |
| AF-Q9HC56-F1 | Predicted | AlphaFoldDB |
882 variants for Q9HC56
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1413365526 CA388303047 |
2 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs74852547 CA6998994 |
5 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 5 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 6 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 6 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 7 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364761703 CA388302999 |
9 | L>S | No |
ClinGen gnomAD |
|
|
CA6998993 rs769272344 |
10 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6998992 rs763542819 |
14 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA388302968 rs1166291287 |
14 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA388302964 rs1475127289 |
15 | C>Y | No |
ClinGen gnomAD |
|
|
CA388302945 rs1480629311 |
18 | L>M | No |
ClinGen TOPMed |
|
| TCGA novel | 19 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388302938 rs1171827945 |
19 | D>Y | No |
ClinGen TOPMed |
|
|
rs868294906 CA388302926 |
21 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs868294906 CA388302925 |
21 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs868294906 COSM948322 CA251082440 |
21 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs746689405 CA6998989 |
21 | A>V | No |
ClinGen ExAC |
|
|
CA388302916 rs1359267988 |
22 | I>M | No |
ClinGen TOPMed |
|
|
rs771600934 CA6998987 |
24 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA388302876 rs1304565661 |
28 | Y>F | No |
ClinGen TOPMed |
|
|
rs1169209275 CA388302872 |
29 | T>A | No |
ClinGen gnomAD |
|
|
COSM1742192 rs939047587 CA251082438 |
29 | T>S | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs747730169 CA6998986 |
30 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA388302868 rs1271501092 |
30 | I>V | No |
ClinGen gnomAD |
|
|
rs1339497187 CA388302859 |
31 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 33 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs908213102 CA251082432 |
34 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs778278899 CA6998985 |
36 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 36 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs879032498 CA251082428 |
37 | N>H | No |
ClinGen Ensembl |
|
|
CA388302817 rs1283747246 |
37 | N>S | No |
ClinGen gnomAD |
|
|
CA388302809 rs1273402806 |
38 | V>A | No |
ClinGen TOPMed |
|
|
rs754998480 CA6998984 |
39 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA388302798 rs1353305279 |
40 | I>T | No |
ClinGen TOPMed |
|
|
CA388302801 rs1352474615 |
40 | I>V | No |
ClinGen gnomAD |
|
|
rs1328112066 CA388302777 |
43 | I>T | No |
ClinGen gnomAD |
|
|
rs371298560 CA6998982 |
44 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750200847 CA6998980 |
48 | N>I | No |
ClinGen ExAC |
|
|
rs1172867806 CA388302738 |
49 | I>N | No |
ClinGen gnomAD |
|
|
rs1468477984 CA388302729 |
50 | S>F | No |
ClinGen gnomAD |
|
|
CA388302719 rs1269835217 |
52 | I>V | No |
ClinGen TOPMed |
|
|
rs1490237351 CA388302710 COSM416325 |
53 | N>S | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs139621323 CA6998978 |
56 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763561092 CA6998975 |
59 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6998972 rs760026989 |
60 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6998974 rs576031337 |
60 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576031337 CA6998973 |
60 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA388302663 rs1159068236 |
61 | S>N | No |
ClinGen TOPMed |
|
|
rs776826720 CA6998971 |
61 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388302658 rs1177998832 |
62 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs771820009 CA6998970 |
64 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs747739380 CA6998969 |
65 | R>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 65 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 68 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388302598 rs1278691695 |
71 | G>V | No |
ClinGen gnomAD |
|
|
rs201671728 CA6998968 |
73 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388302589 rs1593660525 |
73 | A>T | No |
ClinGen Ensembl |
|
|
CA388302582 rs1304471772 |
74 | P>S | No |
ClinGen TOPMed |
|
|
rs768118142 CA6998967 |
75 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA388302570 rs1405359057 |
76 | V>L | No |
ClinGen gnomAD |
|
|
rs1405359057 CA388302572 |
76 | V>M | No |
ClinGen gnomAD |
|
|
rs1365692497 CA388302563 |
77 | K>T | No |
ClinGen TOPMed |
|
|
CA388302554 rs1177440816 |
78 | V>A | No |
ClinGen gnomAD |
|
|
rs1321183187 CA388302540 |
80 | S>R | No |
ClinGen TOPMed |
|
|
rs371889718 CA6998963 |
81 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs780837555 CA6998962 |
82 | T>I | No |
ClinGen ExAC |
|
|
rs1337899166 CA388302529 |
82 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 84 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593660342 CA388302519 |
84 | E>Q | No |
ClinGen Ensembl |
|
|
rs751667422 CA6998960 |
85 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388302512 rs751667422 |
85 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 87 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 89 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs570086719 CA251082244 |
90 | N>D | No |
ClinGen TOPMed |
|
|
rs758502742 CA6998958 |
90 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205204628 CA388302471 |
91 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA388302410 rs1224114943 |
99 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 99 | A>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998954 rs777108306 |
100 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA388302401 rs1451757420 |
101 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1451757420 CA388302402 |
101 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1451757420 CA388302400 |
101 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 102 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768278012 CA6998950 |
102 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA251082192 rs1003759004 |
103 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs371982321 CA6998949 |
103 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 103 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774980648 CA6998948 |
104 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998945 rs144650014 |
106 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770593291 CA6998944 |
107 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 110 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388302304 rs1457029819 |
115 | V>L | No |
ClinGen TOPMed |
|
|
CA6998942 rs747275305 |
117 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 118 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998939 rs752887585 |
120 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6998940 rs758663163 |
120 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs902457317 CA251082106 |
121 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6998937 rs554026094 |
122 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6998933 rs750772569 |
130 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1269836867 CA388302196 |
131 | I>L | No |
ClinGen gnomAD |
|
|
CA388302191 rs1431687271 |
132 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA388302173 rs1301640504 |
134 | D>G | No |
ClinGen gnomAD |
|
|
CA6998930 rs774995119 COSM1157932 COSM3384944 |
139 | A>S | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA388302120 rs1166377441 |
141 | M>I | No |
ClinGen gnomAD |
|
|
rs769228787 CA6998929 |
144 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 146 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1055319862 CA251082033 |
146 | V>I | No |
ClinGen Ensembl |
|
|
rs1198285711 CA388302067 |
150 | S>T | No |
ClinGen TOPMed |
|
|
rs1418095655 CA388302059 |
151 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 152 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1257136349 CA388302030 |
155 | T>A | No |
ClinGen TOPMed |
|
|
rs868455922 CA251082020 |
156 | L>V | No |
ClinGen Ensembl |
|
|
CA251082013 rs80247246 |
158 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 158 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998927 rs150583751 |
160 | R>C | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1478576410 CA388301996 |
160 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs777706573 CA6998924 |
166 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA6998923 rs772476967 |
167 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 168 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998922 rs748318819 |
169 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA388301928 rs1422708848 |
171 | T>A | No |
ClinGen TOPMed |
|
|
rs779136351 CA6998921 |
171 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA388301924 rs1215419684 |
172 | G>S | No |
ClinGen gnomAD |
|
|
CA6998919 rs555876403 |
174 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6998918 rs780469632 |
175 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1374331217 CA388301899 |
175 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 177 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388301882 rs1346471278 |
178 | H>N | No |
ClinGen gnomAD |
|
|
CA388301880 rs1593659690 |
178 | H>R | No |
ClinGen Ensembl |
|
|
rs750849560 CA6998916 |
183 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1170498360 CA388301839 |
184 | G>R | No |
ClinGen gnomAD |
|
|
CA6998915 rs767813090 |
185 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1593659610 CA388301820 |
186 | S>R | No |
ClinGen Ensembl |
|
|
CA6998914 rs78015009 |
186 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1198509973 CA388301812 |
188 | F>L | No |
ClinGen gnomAD |
|
|
CA6998910 rs776175155 |
193 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA6998909 rs766292780 |
197 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 200 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388301730 rs1250875436 |
200 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA388301724 rs1199332491 |
201 | W>R | No |
ClinGen gnomAD |
|
|
rs1261502327 CA388301702 |
204 | L>M | No |
ClinGen gnomAD |
|
|
CA388301678 rs1313177235 |
207 | Q>H | No |
ClinGen gnomAD |
|
|
CA6998906 rs771922856 |
208 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA388301674 rs1593659449 |
208 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 210 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388301644 rs1390209440 |
212 | R>K | No |
ClinGen gnomAD |
|
|
CA388301627 rs1417079669 |
214 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA251081939 rs939930273 |
217 | T>I | No |
ClinGen TOPMed |
|
|
rs1327124782 CA388301601 |
218 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6998904 rs774765551 |
220 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1403186944 CA388301565 |
223 | K>Q | No |
ClinGen gnomAD |
|
|
CA388301535 rs1175285868 |
227 | G>R | No |
ClinGen gnomAD |
|
|
rs749398485 CA6998902 |
229 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532929496 CA251081909 |
230 | P>S | No |
ClinGen TOPMed |
|
|
rs1178234112 CA388301502 |
232 | K>I | No |
ClinGen gnomAD |
|
|
CA251081899 rs374639492 |
235 | T>A | No |
ClinGen Ensembl |
|
|
rs780173733 CA6998901 |
235 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA388301449 rs1482865110 |
240 | V>A | No |
ClinGen TOPMed |
|
|
rs1251148273 CA388301446 |
241 | T>A | No |
ClinGen gnomAD |
|
|
rs746308292 CA6998899 |
241 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781569809 CA6998898 |
243 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192469627 CA388301421 |
245 | V>I | No |
ClinGen TOPMed |
|
|
rs377084770 CA251081864 |
249 | R>S | No |
ClinGen ESP gnomAD |
|
|
rs764837009 CA6998895 |
253 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1237319949 CA388301355 |
254 | E>A | No |
ClinGen gnomAD |
|
|
rs754653968 CA6998894 |
254 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998893 rs753346051 |
255 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA388301347 rs1481609363 |
255 | G>V | No |
ClinGen TOPMed |
|
|
rs760690872 CA388301336 |
257 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760690872 CA6998891 |
257 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146986160 CA251081826 |
257 | V>M | No |
ClinGen ESP |
|
| TCGA novel | 258 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 259 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388301326 rs1464939313 |
259 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 260 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773240376 CA6998890 |
261 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998889 rs767439919 |
264 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 265 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 266 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403883434 CA388301277 |
266 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs749473483 CA6998885 |
267 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs567809264 CA6998886 |
267 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6998887 rs567809264 |
267 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1160407639 CA388301266 |
268 | G>D | No |
ClinGen gnomAD |
|
|
CA6998884 rs775437834 |
269 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 269 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183041683 CA388301254 |
270 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769878419 CA6998883 |
271 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6998880 rs757729104 |
277 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA251081766 rs955496511 |
279 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA388301196 rs955496511 |
279 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs959748851 CA251081761 |
280 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1219479957 CA388301184 |
281 | I>T | No |
ClinGen gnomAD |
|
|
rs928149918 CA251081757 |
283 | S>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 285 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998878 rs778185688 |
288 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs978086573 CA251081755 |
288 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754599954 CA6998877 |
289 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 291 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 291 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308102870 CA388301121 |
291 | F>V | No |
ClinGen gnomAD |
|
|
CA6998876 rs377631463 |
292 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388301105 rs1436241310 |
293 | A>G | No |
ClinGen Ensembl |
|
|
rs1299776210 CA388301093 |
295 | V>I | No |
ClinGen gnomAD |
|
|
CA6998874 rs545745634 |
296 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6998873 rs749923448 |
296 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs767631721 CA6998872 |
297 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA388301040 rs761830398 |
303 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 303 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 303 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388301044 rs1191337201 |
303 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998870 rs751325438 |
306 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs959425975 CA251081701 |
307 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs958059834 CA251081690 |
309 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6998868 rs763120077 |
309 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA388300980 rs769888767 |
313 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998866 rs769888767 |
313 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419137376 CA388300973 |
315 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA388300968 rs1340722225 |
315 | Q>L | No |
ClinGen gnomAD |
|
|
COSM283775 CA6998865 rs374072267 |
318 | L>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA388300924 rs150268494 |
321 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388300919 rs1367551365 |
322 | E>G | No |
ClinGen TOPMed |
|
|
rs747454053 CA6998862 |
323 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs747454053 CA6998863 |
323 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA388300910 rs1324144749 |
324 | A>P | No |
ClinGen gnomAD |
|
|
rs778004717 CA6998861 |
324 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA388300903 rs1393014470 |
325 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 326 | H>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA251081644 rs755342927 |
328 | V>M | No |
ClinGen TOPMed |
|
|
rs1479668047 CA388300838 |
335 | G>S | No |
ClinGen gnomAD |
|
|
CA388300829 rs1384925339 |
336 | S>T | No |
ClinGen TOPMed |
|
|
rs750013135 CA6998857 |
339 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs750013135 CA6998856 |
339 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6998855 rs780792153 |
340 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6998854 rs757265687 |
341 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs574725808 CA6998853 |
341 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1309034735 CA388300801 |
342 | A>T | No |
ClinGen TOPMed |
|
|
rs369636479 CA6998852 |
342 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141436710 COSM1261217 CA6998851 |
343 | T>M | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6998848 rs759738050 |
344 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998849 rs759738050 |
344 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388300777 rs1221762881 |
346 | I>T | No |
ClinGen TOPMed |
|
|
rs1275182297 CA388300766 |
348 | V>I | No |
ClinGen gnomAD |
|
|
CA388300755 rs1438580022 |
349 | T>I | No |
ClinGen gnomAD |
|
|
CA6998845 rs371798743 |
351 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388300712 rs1239202722 |
355 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 357 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446133070 CA388300701 |
357 | N>S | No |
ClinGen gnomAD |
|
|
rs934051000 CA251081599 |
358 | I>V | No |
ClinGen TOPMed |
|
|
CA388300668 rs1177325633 |
362 | Y>D | No |
ClinGen TOPMed |
|
|
rs542334913 CA6998844 |
364 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs922738099 CA251081593 |
365 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA251081589 rs144424467 |
367 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144424467 CA6998843 |
367 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6998842 rs748615430 |
368 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs779133888 CA6998841 |
369 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs780884346 CA251081571 |
371 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998838 rs780884346 |
371 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756782039 CA6998837 |
379 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1201425744 CA388300552 |
380 | N>D | No |
ClinGen gnomAD |
|
|
rs777808609 CA6998835 |
380 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs758261698 CA6998834 |
381 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs188545786 CA6998833 |
389 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 392 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 392 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998830 rs754020196 |
393 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388300463 rs1593657973 |
393 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 402 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388300396 rs1377781576 COSM1367597 |
403 | I>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA388300365 rs1566513203 |
407 | V>F | No |
ClinGen Ensembl |
|
|
rs773132480 CA6998827 |
410 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs142366619 CA6998825 |
411 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388300332 rs1406168855 |
412 | K>Q | No |
ClinGen gnomAD |
|
|
rs774861554 CA6998824 |
412 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6998823 rs148716657 COSM3722953 COSM1261228 |
413 | A>V | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. oesophagus [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 414 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998819 rs746598383 |
416 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 416 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA251081452 rs374449603 |
418 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA388300270 rs1593657758 |
421 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 422 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754719709 CA6998816 |
425 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998815 rs754719709 |
425 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998814 COSM948309 rs754719709 |
425 | S>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs753607531 CA6998813 |
426 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 430 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430474976 CA388300199 |
431 | G>V | No |
ClinGen TOPMed |
|
|
CA388300194 rs1243869360 |
432 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 438 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766625874 CA6998812 |
439 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 443 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998810 rs750531573 |
444 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 444 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370380679 CA251081347 |
448 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6998809 rs370380679 |
448 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs995450188 CA251081325 |
450 | N>S | No |
ClinGen TOPMed |
|
|
CA388300065 rs1420635635 |
451 | Q>* | No |
ClinGen gnomAD |
|
|
rs774953649 CA6998807 |
452 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA388300054 rs1436348249 |
453 | A>T | No |
ClinGen gnomAD |
|
|
CA251081311 rs970873120 |
454 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs375678760 CA251081263 |
456 | R>K | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 460 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 461 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746582576 CA6998801 |
464 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1593657439 CA388299970 |
465 | N>T | No |
ClinGen Ensembl |
|
|
CA6998799 rs528894154 |
466 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs748105287 CA6998798 |
469 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 469 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388299933 rs1359978365 |
470 | N>K | No |
ClinGen gnomAD |
|
|
rs1593657365 CA388299937 |
470 | N>T | No |
ClinGen Ensembl |
|
|
CA6998796 rs754877356 |
474 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370830471 CA251081205 |
481 | N>K | No |
ClinGen ESP gnomAD |
|
|
CA388299850 rs1343002178 |
483 | R>P | No |
ClinGen gnomAD |
|
|
CA388299849 rs1343002178 |
483 | R>Q | No |
ClinGen gnomAD |
|
|
rs756365307 CA6998794 |
484 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756365307 CA6998795 |
484 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756365307 CA6998793 |
484 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477355008 CA388299827 |
487 | Y>F | No |
ClinGen TOPMed |
|
|
rs781354891 CA6998791 |
487 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6998789 rs751661836 |
491 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764767362 CA6998788 |
492 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998787 rs763543069 |
494 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 495 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478754032 CA388299764 |
497 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 501 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs531453082 CA6998785 |
504 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1050336484 CA251081127 |
504 | I>V | No |
ClinGen gnomAD |
|
|
rs1316370345 CA388299704 |
505 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1316370345 CA388299705 |
505 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1224060166 CA388299708 |
505 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 507 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388299693 rs1219382284 |
507 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 507 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772687324 CA6998783 |
510 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA251081111 rs772687324 |
510 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773845076 CA6998780 |
511 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs774082391 CA251081071 |
512 | A>S | No |
ClinGen gnomAD |
|
|
rs1212135499 CA388299643 |
515 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388299628 rs1294854201 |
517 | L>V | No |
ClinGen gnomAD |
|
|
rs768595393 CA6998779 |
519 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 521 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277809954 CA388299603 |
521 | T>P | No |
ClinGen gnomAD |
|
|
CA251081068 rs914080131 |
521 | T>R | No |
ClinGen TOPMed |
|
| TCGA novel | 523 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs552203602 CA251081066 |
528 | R>G | No |
ClinGen 1000Genomes |
|
|
rs756033191 CA6998778 |
529 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA251081053 rs763581685 |
533 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 536 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs532190108 CA6998777 |
536 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388299496 COSM1685097 rs1276928919 |
537 | R>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA388299491 rs1427062858 |
538 | F>L | No |
ClinGen gnomAD |
|
|
CA6998776 rs769428017 |
539 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs745657830 CA6998775 |
542 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781314715 CA6998774 |
544 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 547 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs879182916 CA388299416 |
549 | T>N | No |
ClinGen gnomAD |
|
|
rs879182916 CA251081040 |
549 | T>S | No |
ClinGen gnomAD |
|
|
CA6998770 COSM696315 rs753210691 |
556 | A>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs753210691 COSM169093 CA6998769 |
556 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs754198935 CA6998766 |
557 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1303845104 CA388299360 |
558 | V>G | No |
ClinGen gnomAD |
|
|
rs1238489844 CA388299356 |
559 | I>V | No |
ClinGen gnomAD |
|
|
CA388299339 rs1375654865 COSM302870 |
561 | T>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6998765 rs540566516 |
562 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 562 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 562 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773857322 CA6998763 |
563 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 567 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377412868 CA6998761 |
568 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA251080986 rs370852230 |
569 | S>C | No |
ClinGen ESP |
|
|
CA6998760 rs115196172 |
569 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6998759 rs115196172 |
569 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745720767 CA388299287 |
569 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA251080928 rs937909026 |
573 | T>S | No |
ClinGen TOPMed |
|
|
rs1179513391 CA388299241 |
575 | N>K | No |
ClinGen gnomAD |
|
|
rs747157918 CA6998755 |
579 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6998752 rs748233297 |
581 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6998753 rs143447169 |
581 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6998754 rs143447169 |
581 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 582 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998751 rs780652457 |
584 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 585 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755504388 CA6998750 |
586 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6998748 rs561156017 |
588 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6998746 rs751164794 |
589 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs769741092 CA251080830 |
590 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 590 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388299131 rs1396150648 |
592 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 593 | V>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593656337 CA388299105 |
596 | V>A | No |
ClinGen Ensembl |
|
|
CA6998744 rs376567304 |
597 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388299070 rs1366990333 |
602 | G>R | No |
ClinGen gnomAD |
|
|
CA6998743 rs775065084 |
603 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765148376 CA6998742 |
606 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 607 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998741 rs759463134 |
607 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6998740 rs372418470 |
608 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 609 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998739 rs770806897 |
611 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA388298999 rs1241533691 |
613 | N>S | No |
ClinGen TOPMed |
|
|
rs772391774 CA6998736 |
614 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs748242548 CA6998735 |
615 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA6998734 rs779035670 |
615 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA251080802 rs748242548 |
615 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs146006048 CA6998733 |
616 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1323015292 CA388298981 |
616 | D>Y | No |
ClinGen gnomAD |
|
|
rs1211851890 CA388298950 |
620 | L>W | No |
ClinGen TOPMed |
|
|
rs1566511760 CA388298946 |
621 | D>H | No |
ClinGen Ensembl |
|
|
CA6998732 rs749764642 |
622 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388298938 rs749764642 |
622 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388298930 rs1299785389 |
623 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 624 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388298911 rs1566511713 |
626 | V>D | No |
ClinGen Ensembl |
|
|
rs995728647 CA251080766 |
627 | I>T | No |
ClinGen TOPMed |
|
|
rs1197950131 CA388298908 |
627 | I>V | No |
ClinGen TOPMed |
|
|
CA251080761 rs894421910 |
628 | K>M | No |
ClinGen TOPMed |
|
|
CA251080756 rs745753576 |
629 | S>A | No |
ClinGen gnomAD |
|
|
rs1370272575 CA388298882 |
631 | V>I | No |
ClinGen gnomAD |
|
|
rs138487255 CA6998728 |
633 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6998727 rs758060018 |
635 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA388298851 rs1264584887 |
635 | R>S | No |
ClinGen gnomAD |
|
|
rs752164624 CA6998726 |
636 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 638 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 638 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998725 rs759420554 |
639 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs759420554 CA6998724 |
639 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs776580060 CA6998721 |
641 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998722 rs145913527 |
641 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 642 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs906879137 CA251080704 |
644 | D>Y | No |
ClinGen TOPMed |
|
|
CA388298783 rs766393138 |
645 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766393138 CA6998720 |
645 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358112099 CA388298781 |
646 | K>E | No |
ClinGen gnomAD |
|
|
CA6998719 rs760583171 |
648 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6998717 rs140653679 |
652 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs892852771 CA251080652 |
653 | P>Q | No |
ClinGen TOPMed |
|
|
CA388298726 rs1280052764 |
654 | P>L | No |
ClinGen gnomAD |
|
|
CA6998715 rs376583062 |
655 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6998716 rs376583062 |
655 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768734539 CA6998714 |
656 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1284967258 CA388298708 |
658 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 660 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749305576 CA6998713 |
662 | T>P | No |
ClinGen ExAC |
|
|
CA6998710 rs746294017 |
664 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114529152 CA6998709 |
665 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 671 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs936819765 CA251080616 |
674 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 675 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 676 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757994017 CA6998708 |
679 | P>L | No |
ClinGen ExAC |
|
| TCGA novel | 680 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA251080613 rs938062350 |
682 | T>N | No |
ClinGen gnomAD |
|
|
CA388298524 rs1274669414 |
685 | K>N | No |
ClinGen gnomAD |
|
|
rs778305811 CA388298509 |
688 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778305811 CA6998706 |
688 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754561903 CA388298504 |
689 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs754561903 CA6998705 |
689 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1193611987 CA388298487 |
692 | I>V | No |
ClinGen gnomAD |
|
|
rs866206562 CA251080583 |
695 | S>F | No |
ClinGen Ensembl |
|
|
rs766490363 CA6998703 |
696 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA251080541 rs879013388 |
697 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 699 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 701 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1373424286 CA388298405 |
705 | V>I | No |
ClinGen gnomAD |
|
|
CA388298389 rs1331233552 |
707 | T>I | No |
ClinGen TOPMed |
|
|
rs949336917 CA251080523 |
711 | A>T | No |
ClinGen Ensembl |
|
|
rs768729240 CA6998697 |
712 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 714 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770302609 CA6998694 |
716 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA388298325 rs771033139 |
717 | I>L | No |
ClinGen gnomAD |
|
|
CA251080505 rs771033139 |
717 | I>V | No |
ClinGen gnomAD |
|
|
rs971913449 CA251080485 |
719 | S>N | No |
ClinGen Ensembl |
|
|
CA6998692 rs781571797 |
721 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1207481018 CA388298284 |
723 | K>E | No |
ClinGen gnomAD |
|
|
CA388298281 rs1280410518 |
723 | K>R | No |
ClinGen TOPMed |
|
|
CA6998691 rs771274467 |
724 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 724 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998689 rs778665733 |
727 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs778665733 CA388298255 |
727 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1284070033 CA388298221 |
732 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 739 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998686 rs779651140 |
740 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 741 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998685 rs756125563 |
743 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1335474966 CA388298130 |
746 | V>G | No |
ClinGen gnomAD |
|
|
rs767336340 COSM163294 CA6998683 |
746 | V>M | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA388298129 rs1436906746 |
747 | G>R | No |
ClinGen gnomAD |
|
|
CA388298117 rs1257312372 |
748 | L>F | No |
ClinGen TOPMed |
|
|
rs1359030093 CA388298105 |
750 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs751309112 CA6998681 |
753 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998680 rs764438580 |
754 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763106926 CA6998679 |
755 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388298029 rs1425385758 |
762 | K>E | No |
ClinGen TOPMed |
|
|
CA251080386 rs140996034 |
762 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 764 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388298012 rs1170358834 |
764 | L>F | No |
ClinGen TOPMed |
|
|
rs1237931468 CA388297997 |
766 | T>M | No |
ClinGen gnomAD |
|
|
CA6998676 rs760054864 COSM1367589 |
767 | L>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs747234063 CA6998674 |
769 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs747234063 CA388297984 |
769 | L>I | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1566510765 CA388297979 |
770 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
rs1286650971 COSM948301 CA388297937 |
776 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1394426464 CA388297922 |
778 | A>G | No |
ClinGen TOPMed |
|
|
CA6998671 rs768366733 |
778 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs748882780 CA6998670 |
779 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6998668 rs779741198 |
783 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401031210 CA388297881 |
784 | I>M | No |
ClinGen gnomAD |
|
|
CA388297883 rs1297943268 |
784 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 786 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755735756 CA6998667 |
786 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1341406078 CA388297862 |
787 | L>S | No |
ClinGen TOPMed |
|
|
CA6998666 rs745340186 |
789 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6998665 rs777965493 |
789 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA251080336 rs901450591 |
790 | R>G | No |
ClinGen gnomAD |
|
|
CA388297846 rs1166546410 |
790 | R>K | No |
ClinGen gnomAD |
|
|
rs568528255 CA6998664 |
791 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388297835 rs555154692 |
792 | M>L | No |
ClinGen 1000Genomes |
|
|
CA388297833 rs1277269748 |
792 | M>T | No |
ClinGen TOPMed |
|
|
CA251080332 rs555154692 |
792 | M>V | No |
ClinGen 1000Genomes |
|
|
CA6998663 rs751386251 |
793 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1009720950 CA251080331 |
794 | T>N | No |
ClinGen Ensembl |
|
| TCGA novel | 795 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388297795 rs1486737303 |
798 | R>G | No |
ClinGen gnomAD |
|
|
CA388297774 rs1235319152 |
800 | I>M | No |
ClinGen TOPMed |
|
|
rs1219651539 CA388297770 |
801 | G>E | No |
ClinGen gnomAD |
|
|
rs763732734 CA6998662 |
802 | D>E | No |
ClinGen ExAC |
|
|
rs1470698268 CA388297763 |
802 | D>G | No |
ClinGen gnomAD |
|
|
CA251080310 rs1034105190 |
804 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA388297734 rs1264738536 |
806 | P>H | No |
ClinGen TOPMed |
|
|
rs1488383665 CA388297728 |
807 | Y>S | No |
ClinGen TOPMed |
|
| TCGA novel | 808 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998660 rs752870755 |
811 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs971257618 CA251080295 |
811 | D>G | No |
ClinGen TOPMed |
|
|
CA388297675 rs1316559336 |
814 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765419683 CA6998659 |
815 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA388297667 rs1260009752 |
816 | M>V | No |
ClinGen TOPMed |
|
|
CA6998658 rs367921918 |
817 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 818 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998656 rs766964204 |
819 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388297647 rs766964204 |
819 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 820 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 821 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998654 rs773628149 |
824 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA388297594 rs1456953533 |
827 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 828 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 831 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998651 rs775323783 |
831 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769566064 CA6998650 |
832 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998649 rs745431782 |
833 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6998648 rs200554725 |
833 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6998646 rs375314712 |
834 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1367587 rs375314712 CA6998647 |
834 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA388297550 rs1593654075 |
835 | L>M | No |
ClinGen Ensembl |
|
|
CA388297543 rs1456517097 |
836 | V>L | No |
ClinGen gnomAD |
|
|
CA388297536 rs1359585436 |
837 | R>H | No |
ClinGen TOPMed |
|
|
rs949260894 CA251080234 |
839 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs949260894 CA251080237 |
839 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1309846642 CA388297511 |
841 | A>S | No |
ClinGen gnomAD |
|
|
CA388297512 rs1309846642 |
841 | A>T | No |
ClinGen gnomAD |
|
|
rs77495585 CA388297496 |
843 | R>S | No |
ClinGen 1000Genomes |
|
|
rs371486234 CA6998643 |
847 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371486234 CA6998644 |
847 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA251080209 rs201726103 |
850 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998641 rs201726103 |
850 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753963373 CA6998640 |
851 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1352549852 CA388297401 |
857 | M>L | No |
ClinGen gnomAD |
|
|
rs773541762 CA6998637 |
858 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998636 rs768106816 |
859 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1175047076 CA388297379 |
860 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 860 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762335291 CA6998635 |
863 | N>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6998634 rs774845137 |
865 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA388297334 rs1192179183 |
866 | N>S | No |
ClinGen TOPMed |
|
|
CA6998631 rs776238756 |
870 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs770302790 COSM3722954 CA6998630 COSM3722955 |
871 | R>G | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs746510170 CA6998629 |
871 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566499992 CA6998628 |
872 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1349066039 CA388297286 |
873 | K>E | No |
ClinGen gnomAD |
|
|
CA388297261 rs1181055816 |
876 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 876 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998624 rs778618114 |
876 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6998623 rs755195441 |
880 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6998621 rs371380403 |
883 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs753965572 CA6998622 |
883 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs139732295 CA6998619 |
885 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147427572 COSM194511 CA6998618 |
888 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA388297157 rs1377046533 |
892 | P>T | No |
ClinGen gnomAD |
|
|
CA388297152 rs751978162 |
893 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751978162 CA6998616 COSM1289278 |
893 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs751978162 CA388297151 |
893 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998614 rs759258822 |
894 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6998615 rs764515906 |
894 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 895 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199828489 COSM1666243 CA6998613 |
895 | A>T | eye [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6998611 rs760164850 |
897 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593653460 CA388297117 |
898 | E>A | No |
ClinGen Ensembl |
|
|
CA6998609 rs375788972 |
899 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375788972 CA251080046 |
899 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748010956 CA6998608 |
900 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA388297099 rs1260973125 |
901 | N>S | No |
ClinGen gnomAD |
|
|
CA251080034 rs981216201 |
903 | T>K | No |
ClinGen TOPMed |
|
| TCGA novel | 905 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388297056 rs1296086275 |
908 | A>P | No |
ClinGen gnomAD |
|
|
rs113365656 CA388297044 |
909 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 911 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388297038 rs1439130225 |
911 | E>K | No |
ClinGen TOPMed |
|
|
rs1455353119 CA388297014 |
914 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA251080007 rs199997470 |
915 | I>M | No |
ClinGen Ensembl |
|
|
rs370177996 CA251080008 |
915 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1164239967 CA388297001 CA388297000 |
916 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1475807432 CA388296995 |
917 | R>G | No |
ClinGen gnomAD |
|
|
rs750485571 CA6998602 |
917 | R>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 919 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998600 rs199964981 |
922 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781356179 CA6998601 |
922 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs752066005 CA6998599 |
923 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487335969 CA388296944 |
924 | P>L | No |
ClinGen gnomAD |
|
|
rs1333265363 CA388296914 |
929 | K>T | No |
ClinGen TOPMed |
|
|
rs958161385 COSM125175 CA388296896 |
931 | N>K | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1400993032 CA388296899 |
931 | N>S | No |
ClinGen TOPMed |
|
|
rs1438627020 CA388296891 |
932 | S>N | No |
ClinGen gnomAD |
|
|
CA6998598 rs764679552 |
933 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA388296877 rs1320118266 |
934 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 934 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758733769 CA6998596 |
934 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753097240 CA6998595 |
935 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6998594 rs766001816 |
936 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6998591 rs766972988 |
938 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA388296856 rs1397259182 |
938 | H>Y | No |
ClinGen gnomAD |
|
|
CA388296837 rs1228529889 |
940 | K>N | No |
ClinGen TOPMed |
|
|
CA251079970 rs1002265648 |
940 | K>R | No |
ClinGen Ensembl |
|
|
CA251079968 rs957266665 |
942 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA251079961 rs867182677 |
943 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 945 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388296813 rs1266276251 |
945 | Q>E | No |
ClinGen gnomAD |
|
|
CA388296797 rs774320823 |
947 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998589 rs774320823 |
947 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 947 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754344961 CA6998588 |
948 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388296788 rs1259143412 |
949 | H>N | No |
ClinGen TOPMed |
|
| TCGA novel | 950 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388296768 rs1256003677 |
951 | K>N | No |
ClinGen gnomAD |
|
|
rs1457669813 CA388296765 |
952 | P>A | No |
ClinGen TOPMed |
|
|
rs1046379749 CA251079944 |
954 | T>I | No |
ClinGen Ensembl |
|
|
rs768683640 CA6998586 |
956 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 957 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746048951 CA6998584 |
958 | V>E | No |
ClinGen ExAC gnomAD |
|
|
COSM3356413 COSM3356414 CA388296730 rs1230844933 |
958 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA388296722 rs1302974105 |
959 | K>R | No |
ClinGen gnomAD |
|
|
CA6998583 rs148661381 |
960 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 962 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs192811737 CA6998582 |
962 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 963 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 964 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409876894 CA388296671 |
966 | E>A | No |
ClinGen gnomAD |
|
|
rs758921979 CA6998579 |
969 | L>S | No |
ClinGen ExAC gnomAD |
|
|
COSM72089 rs1424100939 CA388296641 |
970 | D>E | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1566509298 CA388296629 |
972 | T>N | No |
ClinGen Ensembl |
|
|
rs1448554287 CA388296622 |
973 | F>S | No |
ClinGen gnomAD |
|
|
rs1193884503 CA388296616 |
974 | V>F | No |
ClinGen gnomAD |
|
|
rs753014669 CA6998578 |
976 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1036240867 CA251079909 |
976 | G>R | No |
ClinGen Ensembl |
|
|
rs753014669 CA388296604 |
976 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6998577 rs765568223 |
977 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1438292290 CA388296590 |
978 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6998576 rs755751696 |
978 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA388296581 rs1281804219 |
980 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 982 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198461208 CA388296558 |
983 | R>H | No |
ClinGen gnomAD |
|
|
rs1198461208 CA388296559 |
983 | R>L | No |
ClinGen gnomAD |
|
|
CA6998575 rs750028316 |
985 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998572 rs773838866 |
992 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763952338 CA6998571 |
992 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1593652417 CA388296493 |
993 | A>S | No |
ClinGen Ensembl |
|
|
rs1593652417 CA388296495 |
993 | A>T | No |
ClinGen Ensembl |
|
|
rs1441611997 CA388296492 |
993 | A>V | No |
ClinGen gnomAD |
|
|
CA251079867 rs868323502 |
994 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 996 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998570 rs762884013 |
997 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1331475439 CA388296464 |
997 | S>T | No |
ClinGen gnomAD |
|
|
rs576798095 CA6998569 |
1001 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA388296401 rs1279170500 |
1006 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1007 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373547205 CA6998568 |
1008 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1011 | R>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772139181 CA6998543 |
1013 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA388361038 rs1338906695 |
1013 | C>R | No |
ClinGen gnomAD |
|
|
rs1231375731 CA388361029 |
1014 | N>Y | No |
ClinGen TOPMed |
|
|
rs779514058 CA6998541 |
1016 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201867032 CA251929978 CA6998540 |
1016 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1208558694 CA388361011 |
1017 | S>G | No |
ClinGen TOPMed |
|
|
CA6998539 rs749667017 |
1017 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998538 rs149470963 |
1017 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388361009 rs749667017 |
1017 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388360996 rs1266076752 |
1019 | S>C | No |
ClinGen TOPMed |
|
|
CA388360994 rs1430914548 |
1019 | S>N | No |
ClinGen TOPMed |
|
|
CA6998537 rs756936058 |
1020 | D>Y | No |
ClinGen ExAC |
|
|
CA388360978 rs1566280279 |
1021 | N>I | No |
ClinGen Ensembl |
|
|
rs751177488 CA6998536 |
1022 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA6998535 rs201847271 |
1023 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6998533 rs771977712 |
1026 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6998534 rs573916317 |
1026 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
TCGA novel CA388360942 rs1475845515 |
1027 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA388360929 rs1594235002 |
1029 | C>Y | No |
ClinGen Ensembl |
|
|
CA251929976 rs948307854 |
1030 | P>S | No |
ClinGen Ensembl |
|
|
rs369628880 CA6998531 |
1032 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376721149 CA6998530 |
1033 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760998507 CA6998529 |
1033 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760998507 CA6998528 |
1033 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998526 rs772152735 |
1035 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998524 rs111628197 |
1036 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6998525 rs111628197 |
1036 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1037 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363577369 CA388360882 |
1037 | I>V | No |
ClinGen gnomAD |
|
|
rs1272732155 CA388360866 |
1039 | E>V | No |
ClinGen gnomAD |
|
|
rs867271469 CA251929975 |
1041 | E>K | No |
ClinGen Ensembl |
|
|
rs749756952 CA6998522 |
1042 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6998523 rs769157058 |
1042 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6998521 rs780419910 |
1043 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388360839 rs780419910 |
1043 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353903178 CA388360821 |
1045 | Y>C | No |
ClinGen gnomAD |
|
|
rs746190262 CA6998519 |
1046 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs776019485 | 1047 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763000199 CA6998502 COSM948294 |
1047 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6998500 rs770284088 |
1048 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776798396 COSM948292 CA6998498 |
1049 | R>C | Variant assessed as Somatic; 4.699e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs747718825 CA6998496 |
1049 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747718825 CA6998497 |
1049 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6998499 rs776798396 |
1049 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs368726260 CA6998495 |
1050 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM948291 rs754586265 CA388358707 |
1050 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs754586265 CA6998494 |
1050 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs909528695 CA251898936 |
1051 | V>I | No |
ClinGen TOPMed |
|
|
CA388358696 rs150709677 |
1052 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6998493 rs150709677 COSM258613 |
1052 | T>M | Variant assessed as Somatic; 4.655e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773761461 CA6998490 |
1054 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs773761461 CA251898935 |
1054 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA388358672 rs1376233100 |
1056 | P>L | No |
ClinGen gnomAD |
|
|
rs1415200898 CA388358673 |
1056 | P>S | No |
ClinGen gnomAD |
|
|
rs1258364224 CA388358661 |
1058 | G>S | No |
ClinGen TOPMed |
|
|
rs1316893285 CA388358652 |
1059 | S>Y | No |
ClinGen TOPMed |
|
|
CA388358602 rs1256550039 |
1065 | D>E | No |
ClinGen TOPMed |
|
|
rs1182953003 CA388358574 |
1070 | D>Y | No |
ClinGen TOPMed |
|
|
CA388358566 rs1363289737 |
1071 | H>Y | No |
ClinGen gnomAD |
|
|
rs573894407 COSM1706830 CA6998486 |
1073 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1187617603 CA388358543 |
1074 | V>A | No |
ClinGen gnomAD |
|
|
rs765783243 CA6998483 |
1075 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs985770533 CA251898933 |
1078 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA388358497 rs1593808037 |
1082 | H>P | No |
ClinGen Ensembl |
|
|
CA388358494 rs968632127 |
1082 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs759888918 CA6998482 |
1082 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777089757 CA6998481 |
1086 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs771155159 CA6998480 |
1088 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA6998479 rs747379637 |
1089 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA388358455 rs1466327246 |
1089 | P>S | No |
ClinGen TOPMed |
|
|
rs1302215900 CA388358449 |
1090 | Q>* | No |
ClinGen TOPMed |
|
|
CA6998478 rs372281341 |
1091 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1367584 rs1233605724 CA388358442 |
1091 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs761915056 CA388358435 |
1092 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761915056 CA6998476 |
1092 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6998475 rs779653307 COSM948289 |
1093 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs1384579298 CA388358420 |
1094 | Y>D | No |
ClinGen gnomAD |
|
|
rs745743281 CA6998473 |
1096 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1164836962 CA388358396 |
1097 | A>S | No |
ClinGen gnomAD |
|
|
rs781165816 CA6998472 |
1097 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs145894829 CA6998471 |
1099 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA251898930 rs1010987405 |
1099 | P>S | No |
ClinGen gnomAD |
|
|
CA251898931 rs1010987405 |
1099 | P>T | No |
ClinGen gnomAD |
|
|
rs1262028716 CA388358384 |
1100 | D>N | No |
ClinGen gnomAD |
|
|
CA388358362 rs1314338545 |
1102 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA388358356 rs1466754652 |
1103 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758555321 CA6998468 |
1107 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388358313 rs1249376108 |
1110 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1111 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378077622 CA388358248 |
1115 | G>V | No |
ClinGen gnomAD |
|
|
CA6998449 rs752872478 |
1116 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6998450 rs758646449 |
1116 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1117 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs185353148 CA251862150 |
1119 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
COSM1367583 rs779176155 CA6998448 |
1119 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
CA388358225 rs1397643244 |
1120 | R>* | No |
ClinGen gnomAD |
|
|
CA6998447 rs755054889 |
1120 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753950672 CA6998446 |
1121 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766854336 CA6998445 |
1121 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1455204760 CA388358196 |
1125 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA388358192 rs1226634747 |
1125 | A>V | No |
ClinGen TOPMed |
|
|
CA388358174 rs1361928570 |
1128 | M>T | No |
ClinGen gnomAD |
|
|
rs1208512453 CA388358121 |
1135 | V>F | No |
ClinGen gnomAD |
|
|
CA388358095 rs1279904477 |
1139 | S>P | No |
ClinGen gnomAD |
|
|
CA388358085 rs1593771527 |
1140 | D>V | No |
ClinGen Ensembl |
|
|
rs1235038355 CA388358067 |
1142 | C>W | No |
ClinGen gnomAD |
|
|
CA251862149 rs915330961 |
1143 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1146 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277916717 CA388358033 |
1147 | G>D | No |
ClinGen gnomAD |
|
|
CA388358022 rs750822481 |
1149 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA388358021 rs1336069735 |
1149 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6998443 rs750822481 |
1149 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1413351065 CA388358014 |
1150 | P>L | No |
ClinGen gnomAD |
|
|
rs377435544 CA6998442 |
1150 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA251862148 rs867111477 |
1152 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs950904973 CA251862147 |
1152 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1153 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998440 rs542497668 |
1154 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs576808775 CA6998439 |
1154 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6998438 rs576808775 |
1154 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA251862146 rs1030292855 |
1156 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1414131880 CA388357957 |
1159 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA388357961 rs1470451992 |
1159 | S>P | No |
ClinGen gnomAD |
|
|
rs373439145 CA251862145 |
1160 | T>A | No |
ClinGen ESP |
|
|
rs776146493 CA6998437 |
1161 | F>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1161 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140741234 CA251862144 |
1162 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA388357938 rs1461872545 |
1163 | P>A | No |
ClinGen TOPMed |
|
|
rs980487804 CA251862143 |
1163 | P>L | No |
ClinGen Ensembl |
|
|
CA388357937 rs1461872545 |
1163 | P>S | No |
ClinGen TOPMed |
|
|
CA388357914 rs1211852737 |
1166 | E>A | No |
ClinGen gnomAD |
|
|
rs770856234 CA6998436 |
1167 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs369769235 CA6998434 |
1171 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs773016933 CA6998432 |
1173 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA251862142 rs556941096 |
1173 | L>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 1174 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1231775204 CA388357859 |
1174 | V>L | No |
ClinGen gnomAD |
|
|
CA6998431 rs771906985 |
1177 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1352559771 CA388357833 |
1178 | T>A | No |
ClinGen TOPMed |
|
|
CA251862141 rs1024478906 |
1179 | L>M | No |
ClinGen Ensembl |
|
|
CA388357825 rs1378885601 |
1179 | L>R | No |
ClinGen Ensembl |
|
|
CA6998428 rs755217062 |
1181 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA388357810 rs1162504464 |
1182 | A>T | No |
ClinGen gnomAD |
|
|
rs1316969588 CA388357790 |
1184 | K>N | No |
ClinGen gnomAD |
|
|
rs1400805056 CA388357788 |
1185 | E>Q | No |
ClinGen gnomAD |
|
|
CA251862140 rs961522135 |
1186 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6998427 CA388357760 rs749341936 |
1188 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422992212 CA388357762 |
1188 | N>S | No |
ClinGen gnomAD |
|
|
CA388357754 rs148340524 |
1189 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756720555 CA6998425 |
1191 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA388357733 rs1183421669 |
1192 | F>S | No |
ClinGen gnomAD |
|
|
CA6998424 rs751015864 |
1193 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs757762359 CA6998422 |
1193 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6998423 rs768106457 |
1193 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA251862139 rs751938464 |
1194 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199877381 CA6998420 |
1195 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1250642033 CA388357694 |
1198 | Y>C | No |
ClinGen TOPMed |
|
|
rs1018255084 CA251862138 |
1198 | Y>H | No |
ClinGen TOPMed |
|
|
rs759158219 CA6998419 |
1201 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA388357654 rs1472465521 |
1204 | H>L | No |
ClinGen TOPMed |
|
|
CA6998416 rs760160903 |
1204 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
| TCGA novel | 1205 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359367172 CA388357636 |
1206 | N>I | No |
ClinGen gnomAD |
|
|
CA388357639 rs1230415677 |
1206 | N>Y | No |
ClinGen gnomAD |
|
|
CA388357625 rs1168253091 |
1208 | G>S | No |
ClinGen TOPMed |
|
|
rs747952503 CA6998413 |
1209 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6998411 CA388357614 rs149158184 |
1209 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388357619 rs1372234481 |
1209 | S>R | No |
ClinGen TOPMed |
|
|
rs747952503 CA388357615 |
1209 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397796528 CA388357612 |
1210 | H>D | No |
ClinGen TOPMed |
|
|
CA251862135 rs201740302 |
1210 | H>Q | No |
ClinGen Ensembl |
|
|
CA251862136 rs1048736156 |
1210 | H>R | No |
ClinGen Ensembl |
|
|
rs749486001 CA6998410 |
1213 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1213 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780400010 CA251862134 |
1215 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200408330 CA6998408 |
1215 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6998409 rs780400010 |
1215 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1216 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA251862133 rs557204782 |
1216 | L>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1216 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998407 rs745936522 |
1218 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs781778618 CA6998406 |
1221 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1223 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM125174 rs757778716 CA6998405 |
1225 | A>E | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 1226 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6998402 rs746411543 |
1228 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6998403 rs746411543 |
1228 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA388357494 rs1306130039 COSM172147 |
1229 | T>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs765989023 CA6998400 |
1231 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1056768671 CA251862132 |
1232 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6998398 rs145257721 |
1234 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6998397 rs547985011 |
1235 | H>R | No |
ClinGen 1000Genomes ExAC |
|
|
CA388357446 rs1340417452 |
1236 | Q>E | No |
ClinGen TOPMed |
|
|
CA388357444 rs1439553328 |
1236 | Q>P | No |
ClinGen gnomAD |
|
|
CA388357438 rs1371571631 |
1237 | L>V | No |
ClinGen gnomAD |
No associated diseases with Q9HC56
11 regional properties for Q9HC56
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Cadherin-like | 33 - 142 | IPR002126-1 |
| domain | Cadherin-like | 143 - 252 | IPR002126-2 |
| domain | Cadherin-like | 253 - 358 | IPR002126-3 |
| domain | Cadherin-like | 365 - 469 | IPR002126-4 |
| domain | Cadherin-like | 469 - 675 | IPR002126-5 |
| domain | Cadherin-like | 687 - 784 | IPR002126-6 |
| domain | Cadherin, N-terminal | 27 - 117 | IPR013164 |
| domain | Protocadherin | 778 - 999 | IPR013585 |
| conserved_site | Cadherin conserved site | 240 - 250 | IPR020894-1 |
| conserved_site | Cadherin conserved site | 457 - 467 | IPR020894-2 |
| conserved_site | Cadherin conserved site | 663 - 673 | IPR020894-3 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell-cell contact zone | Extended zone of intimate apposition between two cells containing one or more types of intercellular junctions, e.g., the intercalated disk of muscle. |
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
2 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. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BZA8 | PCDH11Y | Protocadherin-11 Y-linked | Homo sapiens (Human) | PR |
| Q08174 | PCDH1 | Protocadherin-1 | Homo sapiens (Human) | PR |
| Q9P2E7 | PCDH10 | Protocadherin-10 | Homo sapiens (Human) | PR |
| Q9Y5H8 | PCDHA3 | Protocadherin alpha-3 | Homo sapiens (Human) | PR |
| Q9UN75 | PCDHA12 | Protocadherin alpha-12 | Homo sapiens (Human) | PR |
| Q9Y5I2 | PCDHA10 | Protocadherin alpha-10 | Homo sapiens (Human) | PR |
| Q9UN72 | PCDHA7 | Protocadherin alpha-7 | Homo sapiens (Human) | PR |
| Q9UN74 | PCDHA4 | Protocadherin alpha-4 | Homo sapiens (Human) | PR |
| Q9Y5I1 | PCDHA11 | Protocadherin alpha-11 | Homo sapiens (Human) | PR |
| Q9Y5H7 | PCDHA5 | Protocadherin alpha-5 | Homo sapiens (Human) | PR |
| Q9UN73 | PCDHA6 | Protocadherin alpha-6 | Homo sapiens (Human) | PR |
| Q9Y5H6 | PCDHA8 | Protocadherin alpha-8 | Homo sapiens (Human) | PR |
| Q9Y5I3 | PCDHA1 | Protocadherin alpha-1 | Homo sapiens (Human) | PR |
| Q9Y5H9 | PCDHA2 | Protocadherin alpha-2 | Homo sapiens (Human) | PR |
| Q9Y5H3 | PCDHGA10 | Protocadherin gamma-A10 | Homo sapiens (Human) | PR |
| O60330 | PCDHGA12 | Protocadherin gamma-A12 | Homo sapiens (Human) | PR |
| Q9Y5G4 | PCDHGA9 | Protocadherin gamma-A9 | Homo sapiens (Human) | PR |
| Q9Y5G0 | PCDHGB5 | Protocadherin gamma-B5 | Homo sapiens (Human) | PR |
| Q9Y5E3 | PCDHB6 | Protocadherin beta-6 | Homo sapiens (Human) | PR |
| Q9Y5F1 | PCDHB12 | Protocadherin beta-12 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDLRDFYLLA | ALIACLRLDS | AIAQELIYTI | REELPENVPI | GNIPKDLNIS | HINAATGTSA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SLVYRLVSKA | GDAPLVKVSS | STGEIFTTSN | RIDREKLCAG | ASYAEENECF | FELEVVILPN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DFFRLIKIKI | IVKDTNDNAP | MFPSPVINIS | IPENTLINSR | FPIPSATDPD | TGFNGVQHYE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLNGQSVFGL | DIVETPEGEK | WPQLIVQQNL | DREQKDTYVM | KIKVEDGGTP | QKSSTAILQV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TVSDVNDNRP | VFKEGQVEVH | IPENAPVGTS | VIQLHATDAD | IGSNAEIRYI | FGAQVAPATK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RLFALNNTTG | LITVQRSLDR | EETAIHKVTV | LASDGSSTPA | RATVTINVTD | VNDNPPNIDL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RYIISPINGT | VYLSEKDPVN | TKIALITVSD | KDTDVNGKVI | CFIEREVPFH | LKAVYDNQYL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LETSSLLDYE | GTKEFSFKIV | ASDSGKPSLN | QTALVRVKLE | DENDNPPIFN | QPVIELSVSE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NNRRGLYLTT | ISATDEDSGK | NADIVYQLGP | NASFFDLDRK | TGVLTASRVF | DREEQERFIF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TVTARDNGTP | PLQSQAAVIV | TVLDENDNSP | KFTHNHFQFF | VSENLPKYST | VGVITVTDAD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AGENKAVTLS | ILNDNDNFVL | DPYSGVIKSN | VSFDREQQSS | YTFDVKATDG | GQPPRSSTAK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VTINVMDVND | NSPVVISPPS | NTSFKLVPLS | AIPGSVVAEV | FAVDVDTGMN | AELKYTIVSG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NNKGLFRIDP | VTGNITLEEK | PAPTDVGLHR | LVVNISDLGY | PKSLHTLVLV | FLYVNDTAGN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ASYIYDLIRR | TMETPLDRNI | GDSSQPYQNE | DYLTIMIAII | AGAMVVIVVI | FVTVLVRCRH |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ASRFKAAQRS | KQGAEWMSPN | QENKQNKKKK | RKKRKSPKSS | LLNFVTIEES | KPDDAVHEPI |
| 910 | 920 | 930 | 940 | 950 | 960 |
| NGTISLPAEL | EEQSIGRFDW | GPAPPTTFKP | NSPDLAKHYK | SASPQPAFHL | KPDTPVSVKK |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| HHVIQELPLD | NTFVGGCDTL | SKRSSTSSDH | FSASECSSQG | GFKTKGPLHT | RQCNSHSKSD |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| NIPVTPQKCP | SSTGFHIQEN | EESHYESQRR | VTFHLPDGSQ | ESCSDSGLGD | HEPVGSGTLI |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| SHPLPLVQPQ | DEFYDQASPD | KRTEADGNSD | PNSDGPLGPR | GLAEATEMCT | QECLVLGHSD |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| NCWMPPGLGP | YQHPKSPLST | FAPQKEWVKK | DKLVNGHTLT | RAWKEDSNRN | QFNDRKQYGS |
| 1210 | 1220 | 1230 | |||
| NEGHFNNGSH | MTDIPLANLK | SYKQAGGATE | SPKEHQL |