Q8IV33
PR
Gene name |
KIAA0825 (C5orf36) |
Protein name |
Uncharacterized protein KIAA0825 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:285600 |
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 Q8IV33
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IV33-F1 | Predicted | AlphaFoldDB |
906 variants for Q8IV33
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA123355193 RCV001261807 RCV000787312 RCV000787051 rs956457873 |
725 | K>* | Polydactyly, postaxial, type a10 Polydactyly, postaxial, type A1 Autosomal recessive nonsyndromic postaxial polydactyly [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_083052 | 725 | K>del | PAPA10 [UniProt] | Yes | UniProt |
|
rs999375561 CA123362645 |
4 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 5 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561282087 CA360541708 |
5 | D>Y | No |
ClinGen Ensembl |
|
|
rs1345761155 CA360541700 |
6 | E>* | No |
ClinGen TOPMed |
|
|
CA3344372 rs780471786 |
6 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA123362644 rs1047908011 |
9 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360541660 COSM1246878 COSM1246879 rs1264353147 |
11 | S>F | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA360541665 rs1367016038 |
11 | S>T | No |
ClinGen TOPMed |
|
|
CA3344369 rs746227253 |
12 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA123362643 rs867447937 |
12 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1211750626 CA360541642 |
14 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA360541637 rs1347246464 |
15 | H>P | No |
ClinGen gnomAD |
|
|
rs1239940017 CA360541620 |
17 | L>W | No |
ClinGen TOPMed |
|
| TCGA novel | 21 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360541570 rs1279925547 |
24 | D>E | No |
ClinGen gnomAD |
|
|
rs781565572 CA3344367 |
24 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360541574 rs1226614979 |
24 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3344366 rs757686725 |
29 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1467641834 CA360541532 |
29 | Q>H | No |
ClinGen TOPMed |
|
|
rs1313083655 CA360541536 |
29 | Q>P | No |
ClinGen gnomAD |
|
|
rs751900176 CA3344365 |
32 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs758601966 CA3344363 |
34 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs764382862 CA3344364 |
34 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs752774197 CA3344362 |
35 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3344361 rs766258085 |
38 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1254551713 CA360541343 |
43 | A>S | No |
ClinGen TOPMed |
|
|
CA360541338 rs1257196601 |
43 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760594712 CA3344360 |
44 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778165468 CA3344344 |
45 | I>L | No |
ClinGen ExAC gnomAD |
|
|
COSM4160056 rs2044909 CA3344343 COSM4160057 VAR_038391 |
46 | K>E | thyroid [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3344342 rs752724463 |
47 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348179704 CA360540795 |
48 | C>R | No |
ClinGen gnomAD |
|
|
rs1239256647 CA360540768 |
51 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs778992998 CA3344340 |
51 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1038453187 CA123361253 |
52 | I>L | No |
ClinGen Ensembl |
|
|
rs1562592440 CA360540760 |
52 | I>M | No |
ClinGen Ensembl |
|
|
CA3344339 rs754999256 |
53 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs371283025 CA3344338 |
54 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371283025 CA360540749 |
54 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147120237 CA3344335 |
55 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA3344334 rs763764474 |
56 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047373713 CA123361252 |
58 | K>E | No |
ClinGen TOPMed gnomAD |
|
| rs747417969 | 58 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360540716 rs1158231743 |
59 | Q>R | No |
ClinGen gnomAD |
|
|
CA360540710 rs1227670867 |
60 | C>R | No |
ClinGen gnomAD |
|
|
CA3344331 rs774995963 |
60 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1247209001 CA360540688 |
63 | V>A | No |
ClinGen gnomAD |
|
|
CA3344329 rs758940038 |
66 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758940038 CA123361251 |
66 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA123361250 rs992023315 |
67 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs771517902 CA3344328 |
69 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs747410892 CA3344326 |
69 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3344327 rs771517902 |
69 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs747410892 CA360540655 |
69 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360540606 rs1316867566 |
74 | W>C | No |
ClinGen gnomAD |
|
|
rs1300705769 CA360540610 |
74 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 74 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778216775 CA3344325 |
78 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1370963723 CA360540574 |
78 | Y>N | No |
ClinGen gnomAD |
|
|
CA3344322 rs748460068 |
80 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3344321 rs115330730 |
81 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3344320 rs199896373 |
87 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3344319 rs753836652 |
88 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA123361249 rs201057978 |
89 | S>P | No |
ClinGen 1000Genomes |
|
|
CA360540441 rs1584772473 |
89 | S>Y | No |
ClinGen Ensembl |
|
|
rs1434149173 CA360540431 |
90 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3344318 rs781126845 |
90 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA360540421 rs1328813537 |
91 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3344317 rs576867368 |
92 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360540391 rs1232972664 |
94 | I>V | No |
ClinGen TOPMed |
|
|
COSM1439190 CA3344315 rs763938596 COSM1439189 |
95 | K>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3344314 rs758127035 |
98 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA123361248 rs530953555 |
99 | T>I | No |
ClinGen Ensembl |
|
|
CA3344313 rs752438607 |
100 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA360539431 rs1483332261 |
102 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 102 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360539412 rs1306336149 |
103 | L>F | No |
ClinGen gnomAD |
|
|
CA360539414 rs1201807252 |
103 | L>W | No |
ClinGen gnomAD |
|
|
rs764973749 CA3344294 |
106 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3344295 rs752387330 |
106 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 108 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 108 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360539342 rs1442358772 |
108 | Q>R | No |
ClinGen TOPMed |
|
|
CA3344293 rs754520391 |
110 | Q>P | No |
ClinGen ExAC |
|
|
CA3344292 rs753412276 |
112 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3344291 rs766044682 |
114 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs760256326 CA3344290 |
117 | L>I | No |
ClinGen ExAC |
|
|
CA3344289 rs773894648 |
119 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1024730703 CA123360968 |
120 | D>A | No |
ClinGen gnomAD |
|
|
rs1024730703 CA360539219 |
120 | D>G | No |
ClinGen gnomAD |
|
|
rs762258188 CA3344287 |
121 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3344288 rs767886828 |
121 | L>V | No |
ClinGen ExAC |
|
|
rs1179101210 CA360539207 |
122 | S>F | No |
ClinGen gnomAD |
|
|
rs77880276 CA3344286 |
122 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs768924526 CA3344285 |
123 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768924526 CA360539196 |
123 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 124 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749450467 CA3344284 |
126 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3766852 CA3344281 rs186554892 COSM3766853 |
127 | V>I | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3344282 rs186554892 |
127 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360539090 rs1562587914 |
129 | F>L | No |
ClinGen Ensembl |
|
|
CA360539086 rs1424089915 |
130 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 131 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360539052 rs1415503077 |
132 | T>I | No |
ClinGen gnomAD |
|
|
CA3344279 rs758230934 |
135 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1238212334 CA360538986 |
137 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs919437728 CA123360966 |
137 | S>P | No |
ClinGen gnomAD |
|
|
CA360538969 rs1199830031 |
138 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3344278 rs540707459 |
141 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360538909 rs1399710429 |
142 | S>F | No |
ClinGen TOPMed |
|
|
CA123360965 rs112664167 |
142 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 143 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1244516850 CA360538892 |
144 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3344276 rs754807072 |
144 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3344275 rs753610670 |
146 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3344274 rs779820982 |
147 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1357499195 CA360538811 |
151 | D>H | No |
ClinGen TOPMed |
|
|
CA3344273 rs755731897 |
151 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360538747 rs1292794632 |
155 | M>T | No |
ClinGen gnomAD |
|
|
rs766860269 CA123360964 |
155 | M>V | No |
ClinGen gnomAD |
|
|
rs1420079643 CA360538720 |
157 | V>I | No |
ClinGen Ensembl |
|
|
CA123360963 rs942705001 |
158 | K>R | No |
ClinGen TOPMed |
|
|
rs911225446 CA123360961 |
160 | M>I | No |
ClinGen TOPMed |
|
|
CA123360962 rs746604995 |
160 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3344269 rs751963006 |
161 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs762157138 CA3344270 |
161 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA3344271 rs768097038 |
161 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3344268 rs578008576 |
163 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769958395 CA3344266 |
164 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3344265 rs769958395 |
164 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3344267 rs763275807 |
164 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 165 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776509719 CA3344263 |
165 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA360538573 rs1209675831 |
167 | H>N | No |
ClinGen gnomAD |
|
|
CA360538566 rs772061121 |
167 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772061121 CA3344262 |
167 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267561696 CA360538546 |
168 | L>R | No |
ClinGen gnomAD |
|
|
rs368289292 COSM274296 CA3344261 COSM274297 |
169 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3344260 rs537807885 |
169 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3344259 rs768612779 |
170 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs953710325 CA123360960 |
170 | R>H | No |
ClinGen Ensembl |
|
|
rs923144867 CA123360959 |
171 | F>S | No |
ClinGen TOPMed |
|
|
rs1465339881 CA360538484 |
173 | V>G | No |
ClinGen TOPMed |
|
|
rs148359969 CA3344258 |
173 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200604282 CA123360958 |
174 | S>N | No |
ClinGen gnomAD |
|
|
rs74459955 CA123360957 |
174 | S>R | No |
ClinGen Ensembl |
|
|
CA123360956 rs75956029 |
177 | Q>K | No |
ClinGen Ensembl |
|
| TCGA novel | 178 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360538400 rs1562587294 |
178 | S>R | No |
ClinGen Ensembl |
|
|
rs1360762952 CA360538390 |
179 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 181 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779873863 CA3344256 |
181 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1377187786 CA360538364 |
181 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 183 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749952108 CA123360955 CA3344254 |
185 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs749952108 CA3344255 |
185 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 187 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756775204 CA3344252 |
189 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1439186 CA3344251 COSM1439187 rs752050086 |
189 | I>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3344250 rs764566593 |
190 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA360538195 rs1488122817 |
192 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 194 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753023728 CA360538119 |
197 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753023728 CA3344248 |
197 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3344246 rs759699024 |
198 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776899694 CA3344245 |
199 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1399134689 CA360538044 |
205 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3344242 rs373822700 |
208 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs896604968 CA360538014 |
209 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs896604968 CA123360953 |
209 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1056949893 CA123360952 |
212 | Y>C | No |
ClinGen Ensembl |
|
|
CA3344240 CA360537930 rs768664005 |
215 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379873731 CA360537919 |
215 | I>M | No |
ClinGen gnomAD |
|
|
rs769580583 CA3344237 |
221 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3344236 rs745561249 |
222 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360537769 rs1255629738 |
225 | W>* | No |
ClinGen gnomAD |
|
|
CA360537767 rs1255629738 |
225 | W>C | No |
ClinGen gnomAD |
|
|
CA360537737 rs1201106172 |
226 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3344235 rs780889364 |
229 | P>R | No |
ClinGen ExAC |
|
|
rs1417823697 CA360537682 |
229 | P>S | No |
ClinGen TOPMed |
|
|
CA3344233 rs746483535 |
230 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1157926871 CA360537642 |
231 | Y>* | No |
ClinGen TOPMed |
|
|
rs926599994 CA360537614 |
232 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3344232 rs778286784 |
232 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3344231 rs143278447 |
233 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1584762080 CA360537569 |
234 | D>G | No |
ClinGen Ensembl |
|
|
CA123360950 rs930897667 |
236 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360537525 rs930897667 |
236 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA360537484 rs1334315362 |
238 | D>G | No |
ClinGen gnomAD |
|
|
rs753075274 CA3344230 |
239 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360537391 rs1441848385 |
243 | G>E | No |
ClinGen TOPMed |
|
|
rs773471565 CA3344229 |
244 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3344228 rs755366411 |
245 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465526692 CA360537325 |
246 | S>T | No |
ClinGen gnomAD |
|
|
rs754046124 CA3344227 |
247 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA123360949 rs971523641 |
247 | T>I | No |
ClinGen TOPMed |
|
|
rs536104847 CA3344226 |
248 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536104847 CA360537283 |
248 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360537239 rs1368086296 |
250 | K>* | No |
ClinGen gnomAD |
|
| TCGA novel | 251 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA123360947 rs1010843110 |
252 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA360537199 rs1010843110 |
252 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs760690674 CA3344225 |
254 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs919468829 CA123360946 |
258 | D>G | No |
ClinGen Ensembl |
|
|
CA3344223 rs148504794 |
260 | N>D | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs966602407 CA123360945 |
261 | T>A | No |
ClinGen Ensembl |
|
|
CA360536992 rs1467761895 |
261 | T>I | No |
ClinGen TOPMed |
|
|
CA3344222 rs773383908 |
262 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3344219 rs762923929 |
267 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA360536905 rs762923929 |
267 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3344215 rs370128539 |
271 | M>I | No |
ClinGen ESP ExAC TOPMed |
|
|
CA3344216 rs745657731 |
271 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs145613351 CA3344214 |
277 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1446770825 CA360536726 |
279 | Y>* | No |
ClinGen gnomAD |
|
|
CA360536705 rs1408627289 |
281 | D>G | No |
ClinGen TOPMed |
|
|
CA360536662 rs1401656817 |
284 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs373122360 CA123360944 |
286 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1223043855 CA360536639 |
286 | E>K | No |
ClinGen gnomAD |
|
|
CA3344212 rs76005206 |
287 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1390409259 CA360536554 |
291 | L>F | No |
ClinGen gnomAD |
|
|
CA3344211 rs369647041 |
292 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 292 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 293 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398621209 CA360536517 |
293 | N>I | No |
ClinGen TOPMed |
|
|
rs748722114 CA3344210 |
294 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3344209 rs779362508 |
295 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360536485 rs1562586049 |
295 | C>Y | No |
ClinGen Ensembl |
|
|
rs1027963660 CA123360942 |
301 | E>G | No |
ClinGen Ensembl |
|
|
rs1227044645 CA360536355 |
303 | A>G | No |
ClinGen TOPMed |
|
|
COSM224673 rs934109207 CA123360941 COSM224674 |
305 | R>C | large_intestine Variant assessed as Somatic; impact. skin [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
COSM3141379 COSM3141378 CA3344207 rs376801374 |
305 | R>H | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1584761299 CA360536308 |
307 | V>A | No |
ClinGen Ensembl |
|
|
CA360536295 rs1277427538 |
308 | K>R | No |
ClinGen gnomAD |
|
|
CA123360940 rs768867502 |
309 | T>I | No |
ClinGen TOPMed |
|
|
CA3344205 rs766538587 |
311 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450842077 CA360536251 |
312 | S>G | No |
ClinGen gnomAD |
|
|
CA360536240 rs1203542355 |
312 | S>R | No |
ClinGen TOPMed |
|
|
CA123360939 rs1021283825 |
314 | S>G | No |
ClinGen Ensembl |
|
|
CA123360938 rs1033508458 |
314 | S>R | No |
ClinGen Ensembl |
|
|
rs767760894 CA3344202 |
318 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750540664 CA3344203 |
318 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs775605893 CA3344200 |
320 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs775605893 CA360536145 |
320 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA360536130 rs1378358233 |
321 | H>R | No |
ClinGen gnomAD |
|
|
rs1009443536 CA123360937 |
321 | H>Y | No |
ClinGen Ensembl |
|
|
rs149370841 CA3344199 |
323 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1283442888 CA360536109 |
323 | L>S | No |
ClinGen gnomAD |
|
|
CA3344198 rs759285616 |
324 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA360541502 rs1338775965 |
325 | T>I | No |
ClinGen gnomAD |
|
|
CA360541467 rs1358975803 |
328 | C>G | No |
ClinGen gnomAD |
|
|
CA360541450 rs1389590561 |
329 | P>R | No |
ClinGen TOPMed |
|
|
rs1362541626 CA360541438 |
330 | Q>R | No |
ClinGen gnomAD |
|
|
rs574704910 CA3344182 |
331 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1030935863 CA123357375 |
331 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1230034810 CA360541382 |
334 | N>I | No |
ClinGen TOPMed |
|
|
rs1425747609 CA360541379 |
334 | N>K | No |
ClinGen gnomAD |
|
|
rs999815336 CA123357373 |
335 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA123357374 rs762738734 |
335 | F>V | No |
ClinGen Ensembl |
|
|
rs1476731960 CA360541353 |
336 | S>C | No |
ClinGen gnomAD |
|
|
rs903521968 CA123357372 |
337 | L>P | No |
ClinGen TOPMed |
|
|
CA360541321 rs1234171673 |
339 | L>S | No |
ClinGen TOPMed |
|
|
CA360541324 rs1471078969 |
339 | L>V | No |
ClinGen gnomAD |
|
|
CA123357371 rs938625855 |
342 | V>I | No |
ClinGen gnomAD |
|
|
COSM3828613 CA123357369 rs754099690 |
343 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1279921623 CA360541278 |
344 | F>L | No |
ClinGen gnomAD |
|
|
CA360541277 rs1484588419 |
345 | L>I | No |
ClinGen Ensembl |
|
|
CA3344178 rs766264737 |
345 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3344177 rs760433102 |
346 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA123357367 rs756404720 |
347 | Q>* | No |
ClinGen Ensembl |
|
|
rs1040545205 CA123357366 |
348 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1188238846 CA360541256 |
348 | L>P | No |
ClinGen gnomAD |
|
|
CA123357365 rs920084151 |
350 | K>R | No |
ClinGen TOPMed |
|
|
CA123357364 rs944896452 |
352 | F>S | No |
ClinGen TOPMed |
|
|
rs1301211657 CA360541203 |
356 | E>* | No |
ClinGen gnomAD |
|
|
CA3344175 rs753068254 |
357 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA123357363 rs973160312 |
358 | G>R | No |
ClinGen TOPMed |
|
|
rs761342402 CA3344174 |
358 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360541186 rs1460027492 |
359 | V>I | No |
ClinGen TOPMed |
|
|
CA3344173 rs773844639 |
361 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA3344172 rs181134801 |
363 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1014587351 CA123357362 |
364 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3344171 rs749860439 |
365 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360541132 rs1396768062 |
366 | I>T | No |
ClinGen TOPMed |
|
|
CA360541128 rs1472852298 |
367 | L>V | No |
ClinGen gnomAD |
|
|
CA360541117 rs1206125356 |
368 | L>F | No |
ClinGen gnomAD |
|
|
rs1305800629 CA360541112 |
369 | S>* | No |
ClinGen TOPMed |
|
|
rs1201381176 CA360541114 |
369 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3344170 rs559071539 |
374 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1028942040 CA123357360 |
374 | R>S | No |
ClinGen Ensembl |
|
|
CA360541078 rs1199657486 |
375 | D>Y | No |
ClinGen gnomAD |
|
|
CA360541058 CA123357359 rs980089697 |
378 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360541021 rs1481842272 |
381 | E>V | No |
ClinGen gnomAD |
|
|
rs930705078 CA123356681 |
384 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA360541003 rs930705078 |
384 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA360540997 rs1584618817 |
385 | R>G | No |
ClinGen Ensembl |
|
|
rs919787601 CA123356680 |
385 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1294133136 CA360540991 |
386 | E>K | No |
ClinGen gnomAD |
|
|
rs1298856713 CA360540939 |
393 | R>* | No |
ClinGen TOPMed |
|
|
rs1376126348 CA360540933 |
394 | A>T | No |
ClinGen gnomAD |
|
|
CA123356678 rs969227472 |
396 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs753856325 CA3344162 |
396 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1261394819 CA360540877 |
402 | E>G | No |
ClinGen TOPMed |
|
|
CA3344160 COSM1439176 rs760484118 |
402 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs760484118 CA360540880 |
402 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 402 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360540850 rs1418587574 |
406 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3344159 rs750177962 |
406 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA123356677 rs868747249 |
407 | G>* | No |
ClinGen Ensembl |
|
|
CA360540845 rs1380335139 |
407 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA360540835 rs1429052466 |
409 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA360540134 rs1360624460 |
410 | A>V | No |
ClinGen gnomAD |
|
|
rs762336835 CA3344153 |
412 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA360540092 rs1455869707 |
414 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA360540059 rs1175860527 |
417 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA360540055 rs1480978819 |
417 | W>* | No |
ClinGen gnomAD |
|
|
CA360540064 rs1376400333 |
417 | W>R | No |
ClinGen gnomAD |
|
|
rs1431848011 CA360540044 |
418 | R>G | No |
ClinGen gnomAD |
|
|
rs182195388 CA123356253 |
418 | R>I | No |
ClinGen 1000Genomes |
|
|
CA360540021 rs1584605034 |
419 | S>R | No |
ClinGen Ensembl |
|
|
CA360539980 rs1488051676 |
423 | E>K | No |
ClinGen gnomAD |
|
|
CA360539970 rs1264065232 |
423 | E>V | No |
ClinGen gnomAD |
|
|
rs116699061 CA123356252 |
426 | L>F | No |
ClinGen 1000Genomes TOPMed |
|
|
CA360539911 rs1255319257 |
428 | M>T | No |
ClinGen gnomAD |
|
|
rs1482259393 CA360539915 |
428 | M>V | No |
ClinGen gnomAD |
|
|
rs1470749859 CA360539903 |
429 | A>T | No |
ClinGen TOPMed |
|
|
CA123356251 rs374186567 |
429 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1217699850 CA360539878 |
431 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360539867 rs1340737438 |
431 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1040693306 CA123356250 |
432 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1393764270 CA360539842 |
434 | T>I | No |
ClinGen gnomAD |
|
|
rs1302812318 CA360539829 |
435 | A>V | No |
ClinGen gnomAD |
|
|
rs770387818 CA3344151 |
436 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1408780547 CA360539819 |
436 | I>T | No |
ClinGen gnomAD |
|
|
rs1470553049 CA360539825 |
436 | I>V | No |
ClinGen gnomAD |
|
|
rs1477657727 CA360539766 |
441 | T>I | No |
ClinGen gnomAD |
|
|
rs1195479918 COSM1071272 CA360539741 |
444 | L>I | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA360539730 rs1422167998 |
445 | Q>* | No |
ClinGen gnomAD |
|
|
CA123356248 rs911112473 |
445 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1049598759 CA360539718 |
446 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1049598759 CA123356247 |
446 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA360539715 rs1200976294 |
446 | Q>R | No |
ClinGen gnomAD |
|
|
rs1462585201 CA360539649 |
451 | R>S | No |
ClinGen gnomAD |
|
|
rs544678234 COSM483165 CA3344150 |
452 | S>P | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA360539633 rs1298877850 |
453 | S>L | No |
ClinGen gnomAD |
|
|
rs1197742824 CA360539620 |
455 | V>M | No |
ClinGen gnomAD |
|
|
rs371059997 CA3344149 |
459 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA360539560 rs1584604437 |
460 | N>T | No |
ClinGen Ensembl |
|
|
CA3344147 rs141130352 |
461 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3344148 rs757654746 |
461 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 465 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408940115 CA360539520 |
466 | Q>K | No |
ClinGen gnomAD |
|
|
rs1329781291 CA360539512 |
467 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA360539511 rs1329781291 |
467 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM3947811 rs1562532683 CA360539500 |
468 | W>C | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1465414127 CA360539494 |
469 | Q>P | No |
ClinGen gnomAD |
|
|
CA360539485 rs1584604301 |
470 | D>A | No |
ClinGen Ensembl |
|
|
CA3344146 rs777826554 |
472 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1161630897 CA360539463 |
473 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1016237532 CA123356242 |
474 | F>L | No |
ClinGen TOPMed |
|
|
CA360539448 rs1446181691 |
474 | F>L | No |
ClinGen gnomAD |
|
|
rs978571154 CA123356241 |
475 | P>H | No |
ClinGen gnomAD |
|
|
CA360539427 rs978571154 |
475 | P>L | No |
ClinGen gnomAD |
|
|
rs1184279944 CA360539425 |
476 | E>K | No |
ClinGen gnomAD |
|
|
rs758556874 CA3344145 |
477 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360539380 rs1562532555 |
478 | E>D | No |
ClinGen Ensembl |
|
|
rs1005565602 CA123356240 |
480 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360539348 rs1274778204 |
481 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA123356075 rs764842913 |
486 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360539175 rs1390246473 |
487 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA360539177 rs1390246473 |
487 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360539178 rs1390246473 |
487 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1376912202 CA360539145 |
490 | I>V | No |
ClinGen TOPMed |
|
|
rs1164346742 CA360539121 |
492 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763425385 CA123356074 |
493 | K>N | No |
ClinGen Ensembl |
|
|
rs750231459 CA3344141 |
494 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA360539064 rs1157981827 |
496 | T>R | No |
ClinGen gnomAD |
|
|
rs1378506707 CA360539066 |
496 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360539057 rs1470440523 |
497 | M>V | No |
ClinGen gnomAD |
|
|
rs1234455760 CA360539039 |
498 | L>F | No |
ClinGen gnomAD |
|
|
rs1196480961 CA360539034 |
498 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 503 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201085397 CA3344140 |
507 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360538894 rs761348238 |
510 | Q>P | No |
ClinGen TOPMed |
|
|
CA123356072 rs761348238 |
510 | Q>R | No |
ClinGen TOPMed |
|
|
CA360538885 rs1350905126 |
511 | E>Q | No |
ClinGen gnomAD |
|
|
CA360538863 rs1239029762 |
512 | I>T | No |
ClinGen TOPMed |
|
|
CA123356071 rs921048340 |
512 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360538824 rs1459104346 |
515 | N>H | No |
ClinGen TOPMed |
|
|
rs776484034 CA3344139 |
517 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 518 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763628911 CA3344137 |
523 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA123356070 rs568787926 |
526 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1584598225 CA360538659 |
529 | Q>K | No |
ClinGen Ensembl |
|
|
rs946430769 CA123356069 |
530 | R>K | No |
ClinGen Ensembl |
|
|
rs1445745515 CA360538603 |
533 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 536 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360538553 rs1406920554 CA360538555 |
537 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA360538549 rs548960954 |
538 | V>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA123356068 rs548960954 |
538 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs79996980 CA3344135 |
543 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360538496 rs79996980 |
543 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360538470 rs1337806654 |
545 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3344134 rs765856016 |
546 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1157945 CA360538455 rs1410035422 |
547 | L>M | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1170648156 CA360538448 |
547 | L>W | No |
ClinGen gnomAD |
|
|
CA360538361 rs553124125 |
554 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA123356066 rs553124125 |
554 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3344131 rs771463015 |
555 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA123356065 rs866947678 |
562 | K>E | No |
ClinGen Ensembl |
|
|
CA360538260 rs1215840074 |
562 | K>R | No |
ClinGen gnomAD |
|
|
CA360538250 rs1448126421 |
563 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1562530545 CA360538246 |
563 | R>Q | No |
ClinGen Ensembl |
|
|
rs905397545 CA123356064 |
565 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs369374605 CA3344129 CA360538190 |
567 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360538176 rs1468260080 |
568 | M>I | No |
ClinGen gnomAD |
|
|
rs774776313 CA123356063 |
572 | T>I | No |
ClinGen Ensembl |
|
|
rs1562530471 CA360538105 |
573 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 574 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360538092 rs1225647547 |
574 | K>R | No |
ClinGen gnomAD |
|
|
rs1179257136 CA360537994 |
575 | P>A | No |
ClinGen TOPMed |
|
|
rs1409805619 CA360537979 |
576 | I>L | No |
ClinGen TOPMed |
|
|
rs1008907708 CA123355916 |
581 | V>G | No |
ClinGen TOPMed |
|
|
rs1019178732 CA123355917 |
581 | V>I | No |
ClinGen TOPMed |
|
|
CA123355915 rs1003427597 |
582 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1461255822 CA360537899 |
583 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs745869321 CA360537894 |
583 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs745869321 CA3344124 |
583 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1376339218 CA360537871 |
585 | Q>R | No |
ClinGen TOPMed |
|
|
rs886399358 CA123355914 |
588 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360537788 rs1215346407 |
590 | T>I | No |
ClinGen gnomAD |
|
|
CA360537802 rs1272591087 |
590 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs748404947 CA123355913 |
592 | Q>R | No |
ClinGen gnomAD |
|
|
rs776935393 CA123355912 |
596 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1383395981 CA360537666 |
597 | N>Y | No |
ClinGen gnomAD |
|
|
CA123355910 rs530737956 |
600 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA123355908 rs61733075 |
602 | V>A | No |
ClinGen Ensembl |
|
|
rs1411233925 CA360537550 |
603 | C>R | No |
ClinGen gnomAD |
|
|
rs1411072900 CA360537515 |
604 | A>V | No |
ClinGen gnomAD |
|
|
rs1444607520 CA360537491 |
606 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1321927333 CA360537476 |
606 | S>R | No |
ClinGen TOPMed |
|
|
rs781212248 CA123355907 |
609 | Q>R | No |
ClinGen gnomAD |
|
|
rs781071936 CA3344123 |
610 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360537378 rs781071936 |
610 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360537371 rs1251044229 |
611 | A>S | No |
ClinGen gnomAD |
|
|
CA360537360 rs1309478599 |
612 | E>K | No |
ClinGen gnomAD |
|
|
CA360537287 rs1287864280 |
615 | H>L | No |
ClinGen gnomAD |
|
|
CA360537291 rs1287864280 |
615 | H>R | No |
ClinGen gnomAD |
|
|
rs1245307571 CA360537268 |
616 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA360537266 rs1245307571 |
616 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs751260071 CA3344121 |
619 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 622 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444393694 CA360537101 |
624 | E>K | No |
ClinGen gnomAD |
|
|
rs1267862189 CA360535894 |
625 | G>A | No |
ClinGen TOPMed |
|
|
rs1237938061 CA360535886 |
626 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 626 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3344116 rs759087301 |
627 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA360535883 rs1307496999 |
627 | R>K | No |
ClinGen gnomAD |
|
|
rs1225239883 CA360535875 |
628 | C>Y | No |
ClinGen gnomAD |
|
|
CA360535870 rs1365167818 |
629 | S>T | No |
ClinGen gnomAD |
|
|
CA360535860 rs1302184133 |
630 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM1165645 CA123355418 rs760254979 |
631 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA360535847 rs1452308066 |
632 | I>T | No |
ClinGen gnomAD |
|
|
rs1190117022 CA360535850 |
632 | I>V | No |
ClinGen TOPMed |
|
|
rs1160403894 CA360535830 |
634 | M>I | No |
ClinGen gnomAD |
|
|
rs1363704133 CA360535833 |
634 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA360535831 rs1363704133 |
634 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs908768089 CA123355417 |
636 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA123355416 rs938212176 |
639 | C>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA360535794 rs1156902119 |
639 | C>R | No |
ClinGen TOPMed |
|
|
CA360535761 rs1158727582 |
643 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1386894963 CA360535763 |
643 | H>R | No |
ClinGen gnomAD |
|
|
CA123355415 rs926793309 |
644 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA123355414 rs565529285 |
645 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA360535734 rs1261265984 |
647 | W>L | No |
ClinGen gnomAD |
|
|
CA360535700 rs1226689417 |
653 | K>E | No |
ClinGen TOPMed |
|
|
rs1288222594 CA360535661 |
658 | I>F | No |
ClinGen TOPMed |
|
|
CA360535656 COSM1198880 rs1481032674 |
659 | L>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs538200851 CA123355411 |
664 | E>D | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1381183123 CA360535604 |
667 | L>V | No |
ClinGen gnomAD |
|
|
CA360535578 rs761999530 |
671 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761999530 CA3344110 |
671 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455750752 CA360535575 |
671 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3344109 rs201212314 |
674 | Y>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360535559 rs1584572988 |
674 | Y>S | No |
ClinGen Ensembl |
|
|
rs1019656654 CA123355409 |
675 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1431693627 CA360535550 |
675 | A>V | No |
ClinGen gnomAD |
|
|
CA123355408 rs535654614 |
676 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3344107 rs535654614 |
676 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360535549 rs1428031731 |
676 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA3344106 rs781127133 |
677 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA360535543 rs1562523717 |
677 | A>V | No |
ClinGen Ensembl |
|
|
CA3344104 rs200083421 |
678 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA3344105 rs566697635 |
678 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1325355746 CA360535534 |
679 | P>A | No |
ClinGen gnomAD |
|
|
rs1411419492 CA360535525 |
680 | S>T | No |
ClinGen TOPMed |
|
|
CA123355407 rs953934543 |
681 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs145267585 CA3344103 |
681 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3344102 rs145267585 |
681 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3344101 rs752441863 |
682 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 683 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA123355405 rs999869364 |
685 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA123355404 rs879181600 |
686 | Q>R | No |
ClinGen Ensembl |
|
|
rs1252594499 CA360535458 |
689 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs191923841 CA3344093 |
696 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187593405 CA3344092 |
696 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566779174 CA123355198 |
703 | W>* | No |
ClinGen 1000Genomes |
|
|
CA3344090 rs768814085 |
703 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs770609944 CA123355197 |
705 | V>A | No |
ClinGen TOPMed |
|
|
rs546528367 CA123355196 |
707 | T>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1327254055 CA360535324 |
709 | V>L | No |
ClinGen gnomAD |
|
|
CA3344089 rs533172243 |
710 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1281621459 CA360535317 |
710 | Q>R | No |
ClinGen TOPMed |
|
|
CA360535300 rs1169821120 |
711 | K>N | No |
ClinGen gnomAD |
|
|
CA360535307 rs1397445321 |
711 | K>R | No |
ClinGen gnomAD |
|
|
CA3344088 rs570521743 |
712 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1584564675 CA360535267 |
714 | N>T | No |
ClinGen Ensembl |
|
|
CA360535258 rs1316040839 |
715 | P>T | No |
ClinGen TOPMed |
|
|
CA3344086 rs769906802 |
716 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360535246 rs769906802 |
716 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446353245 CA360535212 |
718 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA360535197 rs1361911922 |
719 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1180782708 CA360535191 |
720 | D>Y | No |
ClinGen gnomAD |
|
|
CA360535157 rs1198544095 |
722 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 723 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360535142 rs1252262575 |
723 | I>M | No |
ClinGen gnomAD |
|
|
CA360535138 rs1247235698 |
724 | F>L | No |
ClinGen TOPMed |
|
|
rs947707682 CA123355192 |
728 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 729 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360535067 rs1490046367 |
729 | H>Y | No |
ClinGen gnomAD |
|
|
CA123355190 rs894894042 |
730 | C>Y | No |
ClinGen TOPMed |
|
|
CA123355189 rs1031107835 |
731 | N>S | No |
ClinGen gnomAD |
|
|
CA360535025 rs1362216708 |
732 | N>H | No |
ClinGen gnomAD |
|
|
CA3344085 rs180852937 |
732 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1045000377 CA123355187 |
735 | T>I | No |
ClinGen Ensembl |
|
|
rs1333335996 CA360534977 |
736 | T>S | No |
ClinGen TOPMed |
|
|
CA360534966 rs1279395651 |
737 | L>V | No |
ClinGen TOPMed |
|
|
rs899012777 CA123355185 |
741 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360534874 rs1240468881 |
744 | L>S | No |
ClinGen TOPMed |
|
|
CA360534855 rs1365098482 |
745 | T>K | No |
ClinGen gnomAD |
|
|
rs1037516639 CA123355184 |
746 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs749724901 CA123355183 |
748 | Y>C | No |
ClinGen gnomAD |
|
|
CA360534028 rs1316866271 |
750 | T>P | No |
ClinGen TOPMed |
|
|
CA123354228 rs933501921 |
753 | H>R | No |
ClinGen TOPMed |
|
|
rs561651078 CA3344077 |
754 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360533997 rs1401165789 |
754 | G>D | No |
ClinGen gnomAD |
|
|
CA123354226 rs950157177 |
755 | L>P | No |
ClinGen Ensembl |
|
|
CA360533987 rs1562511526 |
756 | D>A | No |
ClinGen Ensembl |
|
|
rs895842456 CA123354224 |
757 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs962585061 CA123354225 |
757 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1016273962 CA123354223 |
766 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360533920 rs1248262264 |
766 | F>S | No |
ClinGen TOPMed |
|
|
CA360533911 rs1429530798 |
767 | F>C | No |
ClinGen gnomAD |
|
|
rs1439039462 CA360533906 |
768 | K>E | No |
ClinGen TOPMed |
|
|
CA360533891 rs1474142887 |
770 | P>T | No |
ClinGen gnomAD |
|
|
CA3344076 rs541875989 |
772 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768041816 CA3344074 |
773 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA3344075 rs750934253 |
773 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs910132796 CA123354220 |
774 | V>I | No |
ClinGen Ensembl |
|
|
CA3344071 rs757477693 |
779 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145468813 CA3344072 |
779 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1264027839 CA360533824 |
780 | F>S | No |
ClinGen gnomAD |
|
|
CA123354219 rs182850074 |
780 | F>V | No |
ClinGen 1000Genomes |
|
|
CA360533819 rs1459464474 |
781 | Y>H | No |
ClinGen TOPMed |
|
|
CA360533802 rs1221091727 |
783 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA360533751 rs1451753849 |
790 | A>T | No |
ClinGen gnomAD |
|
|
rs1350669079 CA360533742 |
791 | G>E | No |
ClinGen TOPMed |
|
|
rs1033819260 CA123352976 |
795 | A>D | No |
ClinGen Ensembl |
|
|
rs1033819260 CA123352975 |
795 | A>V | No |
ClinGen Ensembl |
|
|
CA123352974 rs566581427 |
796 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 796 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184372127 CA360533707 |
797 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 798 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA123352973 rs772006270 |
798 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA123352972 rs546600856 |
803 | L>F | No |
ClinGen 1000Genomes |
|
|
rs933779993 CA123352971 |
804 | S>Y | No |
ClinGen TOPMed |
|
|
CA123352970 rs777459977 |
806 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774228087 CA3344063 |
807 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371747852 CA3344062 |
807 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs749015521 CA3344061 |
809 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA360533620 rs1221672180 |
810 | W>C | No |
ClinGen gnomAD |
|
|
CA3344060 rs779725311 |
810 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs901828178 CA123352968 |
811 | N>K | No |
ClinGen Ensembl |
|
|
CA360533616 rs1186104078 |
811 | N>T | No |
ClinGen TOPMed |
|
| TCGA novel | 816 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424514188 CA360533546 |
822 | G>R | No |
ClinGen TOPMed |
|
|
rs745331154 CA3344058 |
824 | L>F | No |
ClinGen ExAC |
|
|
CA123352966 rs943422475 |
824 | L>V | No |
ClinGen Ensembl |
|
|
CA360533522 rs1562498316 |
826 | R>K | No |
ClinGen Ensembl |
|
|
CA3344056 rs757692342 |
828 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs781578487 CA3344057 |
828 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282143949 CA360542145 |
833 | K>R | No |
ClinGen gnomAD |
|
|
CA360542135 rs1295808134 |
834 | Q>H | No |
ClinGen gnomAD |
|
|
rs1452242444 CA360542133 |
835 | V>I | No |
ClinGen gnomAD |
|
|
rs1160321879 CA360542119 |
837 | D>N | No |
ClinGen gnomAD |
|
|
rs768880390 CA123350831 |
839 | E>A | No |
ClinGen gnomAD |
|
|
rs866425014 CA123350832 |
839 | E>K | No |
ClinGen Ensembl |
|
|
rs149155524 CA123350830 |
840 | N>D | No |
ClinGen 1000Genomes |
|
|
rs926733516 CA123350829 |
844 | Q>K | No |
ClinGen Ensembl |
|
|
rs1261604498 CA360542046 |
848 | L>M | No |
ClinGen TOPMed |
|
|
CA360542023 rs1427483483 |
850 | E>D | No |
ClinGen gnomAD |
|
|
CA3344051 rs29910 |
851 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360542012 rs1480805508 |
852 | I>T | No |
ClinGen gnomAD |
|
|
rs1179192409 CA360542009 |
853 | F>L | No |
ClinGen gnomAD |
|
|
CA360541985 rs1184772790 |
856 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 856 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1026880655 CA123350827 |
857 | Y>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 859 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs190282534 CA123350825 |
862 | S>T | No |
ClinGen 1000Genomes |
|
| TCGA novel | 862 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210340626 CA360541930 |
864 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1210340626 CA360541929 |
864 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA360541917 rs1321088459 |
865 | T>I | No |
ClinGen gnomAD |
|
|
rs1223677831 CA360541893 |
869 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs759567627 CA3344050 |
871 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 872 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360541863 rs1381060501 |
873 | Y>C | No |
ClinGen gnomAD |
|
|
rs1198592768 CA360541856 |
874 | M>T | No |
ClinGen gnomAD |
|
|
rs776707462 CA3344049 |
874 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1489855154 CA360541834 |
877 | E>Q | No |
ClinGen gnomAD |
|
|
CA3344048 rs767371294 |
878 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1361155576 CA360541800 |
881 | D>G | No |
ClinGen TOPMed |
|
|
CA360541794 rs1404277924 |
882 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA360541777 rs1466730961 |
884 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA360541763 rs1302245620 |
886 | I>L | No |
ClinGen TOPMed |
|
|
rs1584432185 CA360541759 |
886 | I>M | No |
ClinGen Ensembl |
|
| TCGA novel | 887 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs888727541 CA123349592 |
889 | S>* | No |
ClinGen Ensembl |
|
|
CA360540584 rs1364905697 |
890 | T>A | No |
ClinGen gnomAD |
|
|
rs753994926 CA3344031 |
890 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs376255027 CA3344029 |
892 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 895 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA123349590 rs944161603 |
895 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA360540507 rs1253398964 |
895 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA123349589 rs911725533 |
898 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs751596225 CA3344028 |
900 | R>* | No |
ClinGen ExAC |
|
|
rs528483323 CA3344027 |
900 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 901 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1032939760 CA123349588 |
901 | C>R | No |
ClinGen Ensembl |
|
|
rs978808165 CA123349587 |
902 | L>F | No |
ClinGen Ensembl |
|
|
CA360540359 rs1358928934 |
904 | L>P | No |
ClinGen gnomAD |
|
|
CA123349585 rs879668826 |
908 | D>N | No |
ClinGen Ensembl |
|
|
CA360540288 rs1238690515 |
911 | K>M | No |
ClinGen gnomAD |
|
|
CA360540269 rs1351313885 |
914 | V>I | No |
ClinGen gnomAD |
|
|
rs1290391415 CA360540261 |
915 | Q>* | No |
ClinGen gnomAD |
|
|
CA360540258 rs1403210972 |
915 | Q>L | No |
ClinGen gnomAD |
|
|
rs1403210972 CA360540260 |
915 | Q>P | No |
ClinGen gnomAD |
|
|
CA360540244 rs1562463395 |
917 | I>T | No |
ClinGen Ensembl |
|
|
CA360540238 rs1344883523 |
918 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM450190 CA3344025 rs775286023 |
919 | S>C | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1324141769 CA360540233 |
919 | S>P | No |
ClinGen gnomAD |
|
|
rs1382596598 CA360540208 |
922 | S>R | No |
ClinGen gnomAD |
|
|
CA360540200 rs1330807724 |
924 | R>G | No |
ClinGen TOPMed |
|
|
rs1157747299 CA360540194 |
924 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 925 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360540188 rs1457490285 |
925 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769342268 CA3344024 |
926 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1272118820 CA360540176 |
927 | C>Y | No |
ClinGen TOPMed |
|
|
rs1196788464 CA360540158 |
929 | T>I | No |
ClinGen gnomAD |
|
|
rs1034648419 CA123349584 |
931 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs981868583 CA123349583 |
933 | K>E | No |
ClinGen TOPMed |
|
|
CA360540095 rs1248408183 |
934 | H>N | No |
ClinGen TOPMed |
|
|
CA360540063 rs1437106331 |
935 | I>M | No |
ClinGen TOPMed |
|
|
CA360540068 rs1246727636 |
935 | I>T | No |
ClinGen gnomAD |
|
|
rs1200272710 CA360540053 |
936 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA360539998 rs1413854838 |
940 | L>S | No |
ClinGen TOPMed |
|
|
rs1260142682 CA360539973 |
942 | E>K | No |
ClinGen gnomAD |
|
|
rs1562463220 CA360539946 |
943 | S>I | No |
ClinGen Ensembl |
|
|
rs1584391360 CA360539910 |
946 | K>E | No |
ClinGen Ensembl |
|
|
rs1330189799 CA360539870 |
948 | W>R | No |
ClinGen gnomAD |
|
|
rs1369265789 CA360539841 |
949 | N>S | No |
ClinGen TOPMed |
|
|
rs759301787 CA3344023 |
951 | S>N | No |
ClinGen ExAC |
|
|
rs1221852318 CA360539782 |
952 | P>L | No |
ClinGen gnomAD |
|
|
CA360539760 rs1322994680 |
953 | K>I | No |
ClinGen gnomAD |
|
|
rs533600069 CA360539652 |
959 | E>* | No |
ClinGen gnomAD |
|
|
CA3344022 CA360539637 rs776118780 |
959 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533600069 CA123349581 |
959 | E>K | No |
ClinGen gnomAD |
|
|
CA360539615 rs966422301 |
961 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA123349580 rs966422301 |
961 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360539579 rs1392434803 |
962 | K>N | No |
ClinGen TOPMed |
|
|
CA360537760 rs1216447193 |
964 | F>L | No |
ClinGen Ensembl |
|
|
CA123348932 rs933870916 |
965 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA360537747 rs1335003001 |
965 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1340040627 CA360537714 |
967 | L>F | No |
ClinGen TOPMed |
|
|
CA360537711 rs1216236007 |
967 | L>P | No |
ClinGen TOPMed |
|
|
rs1276319225 CA360537637 |
970 | Q>K | No |
ClinGen TOPMed |
|
|
CA123348931 rs918275324 |
971 | A>G | No |
ClinGen TOPMed |
|
|
rs772502509 CA3344017 |
974 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs972790575 CA123348930 |
974 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360537574 rs1487360185 |
975 | V>L | No |
ClinGen TOPMed |
|
|
rs1584369777 CA360537545 |
977 | S>G | No |
ClinGen Ensembl |
|
|
rs1192990247 CA360537496 |
978 | K>N | No |
ClinGen TOPMed |
|
|
rs572231781 CA3344016 |
981 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360537440 rs1392458885 |
982 | V>L | No |
ClinGen gnomAD |
|
|
CA123348929 rs909983346 |
983 | I>T | No |
ClinGen TOPMed |
|
|
rs1415345999 CA360537411 |
984 | A>S | No |
ClinGen TOPMed |
|
|
CA360537387 rs1472647055 |
985 | C>F | No |
ClinGen gnomAD |
|
|
CA123348928 rs555576331 |
985 | C>R | No |
ClinGen Ensembl |
|
|
rs1359928740 CA360537366 |
986 | L>* | No |
ClinGen Ensembl |
|
|
CA3344014 rs764917077 |
987 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360537327 rs1436167751 |
988 | P>L | No |
ClinGen gnomAD |
|
|
rs199544884 CA123348927 |
988 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199544884 CA3344013 |
988 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360537254 rs1344189818 |
992 | Y>H | No |
ClinGen gnomAD |
|
|
rs1312714530 CA360537222 |
993 | F>L | No |
ClinGen gnomAD |
|
|
CA123348926 rs919117628 |
993 | F>S | No |
ClinGen TOPMed |
|
|
CA360537230 rs919117628 |
993 | F>Y | No |
ClinGen TOPMed |
|
|
rs1227559952 CA360537180 |
995 | F>I | No |
ClinGen gnomAD |
|
|
CA360537167 rs1188101579 |
995 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360537112 rs1366659459 |
999 | R>T | No |
ClinGen TOPMed |
|
|
rs756285006 CA3344011 |
1000 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1285603530 CA360537089 |
1001 | M>V | No |
ClinGen gnomAD |
|
|
COSM1568160 CA3344010 rs750485559 |
1004 | K>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs533490768 CA123348925 |
1005 | F>C | No |
ClinGen 1000Genomes |
|
|
rs185381772 CA3344008 |
1005 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs776803745 | 1005 | F>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351833883 CA360536936 |
1011 | A>V | No |
ClinGen TOPMed |
|
|
CA360536927 rs1308081072 |
1012 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA360536920 rs1372968275 |
1013 | L>P | No |
ClinGen gnomAD |
|
|
rs1201399461 CA360536903 |
1015 | V>L | No |
ClinGen gnomAD |
|
|
CA123348923 rs779104903 |
1017 | N>H | No |
ClinGen gnomAD |
|
|
rs1414903608 CA360536863 |
1018 | L>V | No |
ClinGen gnomAD |
|
|
CA360536849 rs1246589602 |
1019 | I>F | No |
ClinGen TOPMed |
|
|
CA360536842 rs1455005063 |
1019 | I>M | No |
ClinGen TOPMed |
|
|
rs761742445 CA123348922 |
1019 | I>T | No |
ClinGen Ensembl |
|
|
rs1246589602 CA360536851 |
1019 | I>V | No |
ClinGen TOPMed |
|
|
CA123348921 rs762888155 |
1024 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762888155 CA3344006 |
1024 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360536788 rs1183878015 |
1024 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1584369112 CA360536777 |
1025 | I>T | No |
ClinGen Ensembl |
|
|
rs1562455783 CA360536780 |
1025 | I>V | No |
ClinGen Ensembl |
|
|
CA123348919 rs570837464 |
1028 | D>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA123348920 rs757800455 |
1028 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
COSM1198877 rs765122526 CA3344004 |
1029 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1220660252 CA360536643 |
1035 | L>F | No |
ClinGen gnomAD |
|
|
CA360536647 rs1382522912 |
1035 | L>S | No |
ClinGen gnomAD |
|
|
CA360536625 rs1322162646 |
1037 | G>D | No |
ClinGen gnomAD |
|
|
rs1321527354 CA360536614 |
1038 | A>D | No |
ClinGen TOPMed |
|
|
rs1401879192 CA360536617 |
1038 | A>S | No |
ClinGen TOPMed |
|
|
CA360536607 rs1349185130 |
1039 | S>P | No |
ClinGen TOPMed |
|
|
CA360536549 rs1288533262 |
1043 | W>* | No |
ClinGen gnomAD |
|
|
CA360536557 rs1349469651 |
1043 | W>R | No |
ClinGen gnomAD |
|
|
rs1411159542 CA360536538 |
1044 | S>I | No |
ClinGen gnomAD |
|
|
CA360536501 rs1343022814 |
1047 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1047 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292304797 CA360536489 |
1048 | L>M | No |
ClinGen gnomAD |
|
|
rs556550987 CA3344000 |
1049 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350901596 CA360536467 |
1049 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1399229677 CA360536452 |
1051 | I>V | No |
ClinGen gnomAD |
|
|
rs1406919997 CA360536431 |
1052 | C>F | No |
ClinGen gnomAD |
|
|
rs1160092670 CA360536438 |
1052 | C>S | No |
ClinGen gnomAD |
|
|
CA360536416 rs1473620340 |
1053 | M>R | No |
ClinGen gnomAD |
|
|
rs1020913883 CA123348918 |
1057 | S>N | No |
ClinGen gnomAD |
|
|
rs1190608791 CA360536312 |
1061 | D>N | No |
ClinGen gnomAD |
|
|
CA123348917 CA3343998 rs377546904 |
1062 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360536278 rs1248293575 |
1063 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3343997 rs370607205 |
1065 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014492677 CA123348916 |
1065 | I>T | No |
ClinGen TOPMed |
|
|
rs1328176251 CA360536231 |
1066 | H>Q | No |
ClinGen gnomAD |
|
|
rs748758683 CA3343996 |
1074 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs374256053 CA3343994 |
1076 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1386751196 CA360536067 |
1077 | I>T | No |
ClinGen gnomAD |
|
|
CA123348914 rs933945855 |
1079 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA123348913 rs1034284834 |
1080 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA360536046 rs1295755272 |
1080 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs769112721 CA3343993 |
1082 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360536024 rs1388286698 |
1083 | N>K | No |
ClinGen gnomAD |
|
|
CA123348912 rs897049424 |
1083 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1321531301 CA360536019 |
1084 | W>S | No |
ClinGen gnomAD |
|
|
CA3343992 rs749566055 |
1085 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA360536000 rs1376035303 |
1086 | E>D | No |
ClinGen gnomAD |
|
|
CA360535997 rs1175421668 |
1087 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA360535994 COSM1198885 rs1433793562 |
1087 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA360535995 rs1433793562 |
1087 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1427217388 CA360535988 |
1088 | Q>L | No |
ClinGen gnomAD |
|
|
CA360535989 rs1427217388 |
1088 | Q>R | No |
ClinGen gnomAD |
|
|
CA123348910 rs888492610 |
1095 | L>Q | No |
ClinGen Ensembl |
|
|
CA123348909 rs1048454466 |
1097 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1210281230 CA360535926 |
1097 | T>S | No |
ClinGen gnomAD |
|
|
rs1406120053 CA360535241 |
1103 | T>A | No |
ClinGen TOPMed |
|
|
CA3343979 rs767092689 |
1104 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1453661930 CA360535229 |
1104 | I>V | No |
ClinGen Ensembl |
|
|
CA123348480 rs935119954 |
1107 | S>N | No |
ClinGen Ensembl |
|
|
CA3343978 rs377748930 |
1108 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3343976 rs377748930 |
1108 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360535151 rs1203683106 |
1109 | A>D | No |
ClinGen gnomAD |
|
|
rs1249106866 CA360535158 |
1109 | A>P | No |
ClinGen gnomAD |
|
|
rs916834905 CA123348478 |
1113 | G>E | No |
ClinGen Ensembl |
|
|
CA123348479 rs970931815 |
1113 | G>R | No |
ClinGen gnomAD |
|
|
CA360535087 rs1280493572 |
1114 | D>H | No |
ClinGen TOPMed |
|
|
CA360535081 rs1298922246 |
1114 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360535060 rs1231115040 |
1116 | A>S | No |
ClinGen gnomAD |
|
|
CA123348477 rs867415084 |
1116 | A>V | No |
ClinGen Ensembl |
|
|
CA360534949 rs1358051922 |
1123 | K>N | No |
ClinGen TOPMed |
|
|
rs373480280 CA3343974 |
1124 | I>K | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs373480280 CA123348474 |
1124 | I>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs991063911 CA123348473 |
1125 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3343973 rs369988324 |
1126 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746157612 CA3343971 CA360534909 |
1127 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3343972 rs562568543 |
1127 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360534871 rs1456206917 |
1130 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1132 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360534787 rs1562450215 |
1136 | G>D | No |
ClinGen Ensembl |
|
|
rs1471288790 CA360534785 |
1137 | G>S | No |
ClinGen TOPMed |
|
|
CA360534780 rs1367659053 |
1137 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA123348471 rs975427890 |
1140 | Y>F | No |
ClinGen TOPMed |
|
|
rs1416729338 CA360534714 |
1147 | I>V | No |
ClinGen gnomAD |
|
|
CA123348468 rs983928919 |
1148 | M>R | No |
ClinGen Ensembl |
|
|
CA360534697 rs1180853559 |
1149 | Q>* | No |
ClinGen gnomAD |
|
|
CA3343970 rs75413171 |
1151 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360534676 rs1207843276 |
1152 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1354758709 CA360534673 |
1152 | E>V | No |
ClinGen gnomAD |
|
|
CA123347996 rs376619554 |
1153 | E>D | No |
ClinGen gnomAD |
|
|
rs1231038783 CA360534618 |
1158 | Q>* | No |
ClinGen gnomAD |
|
|
CA3343958 rs761412755 |
1162 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360534590 rs1309769783 |
1162 | M>T | No |
ClinGen TOPMed |
|
|
CA360534593 rs761412755 |
1162 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386108514 CA360534581 |
1163 | N>S | No |
ClinGen gnomAD |
|
|
rs1208522492 CA360534572 |
1164 | S>I | No |
ClinGen TOPMed |
|
|
CA360534571 rs1457439506 |
1164 | S>R | No |
ClinGen gnomAD |
|
|
rs934590787 CA360534543 |
1168 | K>M | No |
ClinGen gnomAD |
|
|
CA123347995 rs934590787 |
1168 | K>R | No |
ClinGen gnomAD |
|
|
CA3343957 rs773668274 |
1169 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs763611790 CA3343955 |
1173 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969798883 CA360534514 |
1173 | R>P | No |
ClinGen gnomAD |
|
|
rs969798883 CA123347994 |
1173 | R>Q | No |
ClinGen gnomAD |
|
|
CA360534507 rs1259107653 |
1174 | P>L | No |
ClinGen TOPMed |
|
|
rs72771666 CA3343954 |
1177 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360534488 rs72771666 |
1177 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1217574265 CA360534481 |
1178 | T>I | No |
ClinGen gnomAD |
|
|
CA360534484 rs1286541821 |
1178 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1181 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275381177 CA360534454 |
1182 | I>T | No |
ClinGen gnomAD |
|
|
CA360534457 rs1353167814 |
1182 | I>V | No |
ClinGen gnomAD |
|
|
rs1235308346 CA360534451 |
1183 | E>K | No |
ClinGen gnomAD |
|
|
CA360534439 rs1374649885 |
1184 | D>G | No |
ClinGen TOPMed |
|
|
CA360534441 rs1362850194 |
1184 | D>Y | No |
ClinGen gnomAD |
|
|
rs1435426061 CA360534427 |
1186 | P>S | No |
ClinGen gnomAD |
|
|
rs73142965 CA3343952 |
1188 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1222936162 CA360534411 |
1188 | A>V | No |
ClinGen gnomAD |
|
|
rs1331747340 CA360534410 |
1189 | F>V | No |
ClinGen gnomAD |
|
|
rs1004440398 CA123347992 |
1190 | N>K | No |
ClinGen Ensembl |
|
|
rs776944748 CA3343951 |
1191 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA360534386 rs1173737040 |
1192 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1194 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA123347991 rs772560531 |
1195 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs528412872 CA3343949 |
1197 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs997264113 CA123347989 |
1200 | E>K | No |
ClinGen Ensembl |
|
|
rs1342131059 CA360534323 |
1201 | N>Y | No |
ClinGen TOPMed |
|
|
CA360534317 rs374930679 |
1202 | M>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1279417353 CA360534314 |
1202 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA123347988 rs374930679 |
1202 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372036051 CA3343947 |
1205 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360534264 rs1311353347 |
1206 | S>L | No |
ClinGen TOPMed |
|
|
rs1412434562 CA360534267 |
1206 | S>T | No |
ClinGen TOPMed |
|
|
CA3343939 rs763576864 |
1207 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762519299 CA3343938 |
1208 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360534246 rs1372844656 |
1209 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA360534231 rs1584330801 |
1211 | W>* | No |
ClinGen Ensembl |
|
|
rs1338511725 CA360534233 |
1211 | W>G | No |
ClinGen TOPMed |
|
|
CA360534205 rs1287469598 |
1214 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3343937 rs138900919 |
1219 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1356636995 CA360534160 |
1221 | N>D | No |
ClinGen gnomAD |
|
|
CA360534138 rs1349271039 |
1224 | R>K | No |
ClinGen gnomAD |
|
|
CA360534130 rs1308022062 |
1225 | L>R | No |
ClinGen gnomAD |
|
|
CA123347827 rs1022119084 |
1225 | L>V | No |
ClinGen TOPMed |
|
|
rs1356683989 CA360534125 |
1226 | D>G | No |
ClinGen gnomAD |
|
|
rs1443557039 CA360534127 |
1226 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1248823737 CA360534120 |
1227 | K>E | No |
ClinGen gnomAD |
|
|
CA360534099 rs1584330609 |
1229 | T>I | No |
ClinGen Ensembl |
|
|
CA360534098 rs1191666822 |
1230 | F>V | No |
ClinGen TOPMed |
|
|
rs1414842362 CA360534078 |
1232 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1240 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs912287284 CA123325732 |
1240 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs912287284 CA360533437 |
1240 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA123325733 rs889999748 |
1240 | M>V | No |
ClinGen Ensembl |
|
|
CA123325731 rs199863477 |
1241 | K>R | No |
ClinGen Ensembl |
|
|
CA360533425 rs1297801266 |
1242 | K>E | No |
ClinGen gnomAD |
|
|
CA360533423 rs1383340780 |
1242 | K>T | No |
ClinGen TOPMed |
|
|
CA3343929 rs772191114 |
1246 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs982588678 CA123325730 |
1246 | L>V | No |
ClinGen TOPMed |
|
|
CA360533391 rs1160024967 |
1247 | E>* | No |
ClinGen gnomAD |
|
|
CA123325729 rs769210988 |
1248 | E>K | No |
ClinGen gnomAD |
|
|
rs1190490905 CA360533376 |
1249 | E>* | No |
ClinGen gnomAD |
|
|
CA3343927 rs537612345 |
1250 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs748174533 CA3343928 |
1250 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360533370 rs748174533 |
1250 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360533351 rs1464145170 |
1252 | A>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1252 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745688608 CA3343925 |
1255 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3343926 rs769648904 |
1255 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA360533338 rs769648904 |
1255 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3343923 rs201666365 |
1256 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360533328 rs1372269522 |
1256 | H>Q | No |
ClinGen gnomAD |
|
|
CA3343924 rs376383241 |
1256 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1306049575 CA360533299 |
1260 | I>T | No |
ClinGen gnomAD |
|
|
rs199584476 CA3343922 |
1265 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3343921 rs777435686 |
1268 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1175356264 CA360533220 |
1272 | I>T | No |
ClinGen gnomAD |
|
|
rs574951491 CA123325725 |
1272 | I>V | No |
ClinGen 1000Genomes |
|
|
rs1451652924 CA360533210 |
1273 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA123325724 rs1042893506 |
1275 | Q>H | No |
ClinGen Ensembl |
No associated diseases with Q8IV33
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3UPC7 | Uncharacterized protein KIAA0825 homolog | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDWDDEYSHN | SFDLHCLLNS | FPGDLEFEQI | FSDIDEKIEQ | NAASIKHCIK | EIQSEINKQC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PGVQLQTTTD | CFEWLTNYNY | STSESSFISH | GDLIKFFKTL | QDLLKNEQNQ | EEMTLDLLWD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LSCHSSVSFP | STLSGTSFHF | LSRTSLHSVE | DNSSMDVKSM | WDDIRLHLRR | FLVSKLQSHN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EINNSQQKIL | LKKQCLQQLL | FLYPESEVII | KYQNIQNKLL | ANLLWNCFPS | YNRDSNLDVI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AHGYQSTMLK | LYSVIKEDFN | TLCEILAPSS | MVKFIKETYL | DTVTEEMAKF | LENFCELQFR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ENAVRVVKTS | KSSSKHRGAV | HALVTTECPQ | KGRNFSLPLD | KVEFLSQLIK | SFMKLEKGVQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ELFDEILLSL | KITRDTSGIL | EKSDREVVME | KPRANETNIP | SEQSLPGKEA | TLLDFGWRSA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FKEVSLPMAH | CVVTAIEGFS | TKILQQEQNE | RSSAVSYAMN | LVNVQQVWQD | SHMFPEEEQP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KKIGKFCSDI | MEKLDTMLPL | ALACRDDSFQ | EIRANLVEAC | CKVATAVLQR | LQERAKEVPS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KAPLKNLHTY | LSTAVYVFQH | FKRYDNLMKE | MTKKPIFLVL | VQRYQEFINT | LQFQVTNYCV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RVCATSILQD | AESHHWDDYK | AFYEGERCSF | SIQMWHYFCW | SLHYDLWTIL | PPKLAQEILV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EVLEKSLSLL | ASRYARAHPS | RKRTPQLRLD | VTTILICTEN | MLWSVCTSVQ | KLLNPHQHTD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DKIFKIHTHC | NNLFTTLVIL | TSPLTELYKT | FQHGLDESAS | DSLKSFFKQP | LYWVSCISHF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| YPSLLRTPSA | GGLKAEGQLK | LLLSQPRCNW | NLLLETLLHH | DGLLLRILLK | SSKQVSDTEN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| NLNQGPSLME | AIFKILYHCS | FSPQTFANVF | VSYMEEEQLW | DFLYNIPVST | CVEYELEVIR |
| 910 | 920 | 930 | 940 | 950 | 960 |
| CLRLALTDAI | KDTVQQIVSV | MSSRRNCETN | LNKHIVPDCL | LESMPKEWNY | SPKETNRKES |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| CKSFTRLTAQ | AVSIVISKLP | TVIACLPPPV | KYFFFLSERK | MSKKFVELKK | AGLLVWNLIV |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| IICRIFEDGN | TVELLTGASL | DRWSKEKLGL | ICMCLKSIMG | DQTSIHNQMI | QKVIQSIEQQ |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| KPNWIERQLL | KARKLSTECA | FMTIEKSTAL | QEGDVALELT | EQKINTMVLD | LCHKPGGREY |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| LRQIYHIMQL | NEEYLKEQLF | SMNSSEEKPL | PIRPLKTTLR | SIEDQPSAFN | PFHVYKAFSE |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| NMLDQSAITK | WNWNWAKLLP | NYLRLDKMTF | SVLLKNRWEM | KKDETLEEEE | KAILEHLKQI |
| 1270 | |||||
| CTPQNSSASD | NIEEQ |