Q8N5H7
PR
Gene name |
SH2D3C (NSP3, UNQ272/PRO309/PRO34088) |
Protein name |
SH2 domain-containing protein 3C |
Names |
Cas/HEF1-associated signal transducer, Chat-H, Novel SH2-containing protein 3, SH2 domain-containing Eph receptor-binding protein 1, SHEP1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10044 |
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 Q8N5H7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3T6G | X-ray | 250 A | A/C | 539-860 | PDB |
| AF-Q8N5H7-F1 | Predicted | AlphaFoldDB |
676 variants for Q8N5H7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA5251500 rs775420934 |
3 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1436120055 CA374993028 |
3 | E>V | No |
ClinGen gnomAD |
|
|
CA5251498 rs377346890 |
6 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 6 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374993003 rs1365414271 |
7 | K>T | No |
ClinGen gnomAD |
|
|
CA5251472 rs749750726 |
14 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA200310108 rs944755041 |
15 | F>C | No |
ClinGen TOPMed |
|
|
COSM3779647 COSM3779646 rs1564426824 CA374992040 |
17 | F>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA200310104 rs963355094 |
17 | F>S | No |
ClinGen gnomAD |
|
|
CA374992011 rs1261783947 |
21 | G>V | No |
ClinGen gnomAD |
|
|
CA374992014 rs1292213730 |
21 | G>W | No |
ClinGen gnomAD |
|
|
CA200310093 rs986417429 |
22 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs10760500 CA5251469 VAR_051352 |
23 | L>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5251468 rs199653045 |
25 | N>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs201637826 CA200310082 COSM1554379 COSM1554380 |
28 | R>G | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs996412194 CA374991973 |
28 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA200310077 rs996412194 |
28 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs201637826 CA5251466 |
28 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA374991943 rs764175116 |
33 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs764175116 CA5251465 |
33 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA5251464 rs370538234 |
34 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs536578808 CA5251463 |
34 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370394015 CA5251461 |
35 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5251462 rs367733901 |
35 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5251460 rs776471382 |
38 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770570265 CA200310062 |
39 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA5251459 rs770570265 |
39 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1236271823 CA374991903 |
41 | R>G | No |
ClinGen TOPMed |
|
|
COSM1145232 CA374991897 rs1588527794 COSM607600 |
41 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA374991895 rs891768121 |
42 | Q>* | No |
ClinGen gnomAD |
|
|
rs891768121 CA200310058 |
42 | Q>K | No |
ClinGen gnomAD |
|
|
CA374991871 rs1334604318 |
45 | L>W | No |
ClinGen gnomAD |
|
|
rs139943112 CA200310055 |
46 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 46 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139943112 CA5251458 |
46 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1230175015 CA374991850 |
48 | D>E | No |
ClinGen gnomAD |
|
|
rs1588527764 CA374991848 |
49 | T>P | No |
ClinGen Ensembl |
|
|
rs1210856680 CA374991842 |
50 | F>I | No |
ClinGen TOPMed |
|
|
COSM607601 COSM1145231 CA5251456 rs771568554 |
51 | E>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs150394069 CA5251455 |
52 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201475022 CA5251454 |
53 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5251453 rs770261827 |
54 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1327761563 CA374991814 |
54 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 55 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 56 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5251452 rs746229819 |
57 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs781633475 CA5251451 |
59 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5251449 rs751784225 |
60 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs777890166 CA5251448 |
61 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5251447 rs758473365 |
63 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs752769485 CA5251446 |
64 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs1364520640 CA374991749 |
64 | P>S | No |
ClinGen TOPMed |
|
|
rs865860533 CA200310031 |
65 | P>S | No |
ClinGen TOPMed |
|
|
CA5251444 rs765210365 |
66 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5251443 rs759539615 |
68 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5251442 rs753783234 |
69 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1636031 rs766107803 COSM1636030 CA5251441 |
69 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA374991711 rs948887368 |
71 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA200310019 rs948887368 |
71 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA374991694 rs1213482725 |
73 | M>T | No |
ClinGen gnomAD |
|
|
CA5251438 rs571377254 |
75 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768284351 CA5251434 |
77 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs773799062 CA5251435 |
77 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs761369659 CA5251436 |
77 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 79 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781769938 CA5251432 |
80 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA374991634 rs1328427044 |
81 | P>L | No |
ClinGen gnomAD |
|
|
rs771383125 CA5251431 COSM1133838 COSM421959 |
82 | R>C | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs551544668 CA5251430 |
84 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778794210 CA5251425 |
93 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5251424 rs755068294 |
94 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs766339295 CA5251422 |
95 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5251423 rs753731308 |
95 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760438916 CA5251421 |
97 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs201683320 CA200309977 |
97 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA5251420 rs750240841 |
98 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 99 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372890268 CA5251419 |
100 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191778854 CA374991461 |
104 | P>H | No |
ClinGen TOPMed |
|
|
rs1191778854 CA374991458 |
104 | P>L | No |
ClinGen TOPMed |
|
|
CA374991455 rs1311166686 |
105 | N>D | No |
ClinGen gnomAD |
|
|
CA5251415 rs762584265 |
105 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA5251416 rs763648538 |
105 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs777246941 CA5251414 |
108 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1176311983 CA374991388 |
109 | G>E | No |
ClinGen gnomAD |
|
|
rs375857347 CA5251412 |
109 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 110 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372348878 CA374991374 |
110 | G>D | No |
ClinGen TOPMed |
|
|
CA374991369 rs1372348878 |
110 | G>V | No |
ClinGen TOPMed |
|
|
CA5251410 rs772492265 |
113 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374991313 rs1261297543 |
114 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1261297543 CA374991317 |
114 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5251407 rs372714580 |
116 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5251408 rs372714580 |
116 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374991270 rs1314951101 |
117 | L>F | No |
ClinGen gnomAD |
|
|
rs1306059729 CA374991254 |
118 | E>D | No |
ClinGen gnomAD |
|
|
CA5251406 rs749413979 |
121 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5251405 rs779951056 |
121 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 122 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251641854 CA374991176 |
123 | V>G | No |
ClinGen gnomAD |
|
|
CA5251402 rs756107019 |
124 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA374991113 rs1295472154 |
127 | A>V | No |
ClinGen TOPMed |
|
|
rs1021729628 CA200309924 |
129 | G>D | No |
ClinGen Ensembl |
|
|
rs1012047104 CA200309921 |
130 | P>L | No |
ClinGen Ensembl |
|
|
CA374991080 rs1362737810 |
130 | P>S | No |
ClinGen gnomAD |
|
|
CA5251401 rs767156845 |
132 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5251400 rs767156845 |
132 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757096843 CA5251399 |
134 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA200309909 rs778994654 |
135 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1463293658 CA374991005 |
135 | P>L | No |
ClinGen gnomAD |
|
|
CA374991010 rs778994654 |
135 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5251398 rs751131267 |
136 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763880186 CA5251397 |
137 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5251396 rs762529728 |
138 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs868578728 CA200309899 |
139 | P>L | No |
ClinGen Ensembl |
|
|
CA374990935 rs1468957507 |
140 | N>K | No |
ClinGen TOPMed |
|
|
rs908026894 CA200309897 |
140 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA374990929 rs1588527410 |
141 | P>S | No |
ClinGen Ensembl |
|
|
rs1261772999 CA374990905 |
143 | A>T | No |
ClinGen gnomAD |
|
|
rs1187722508 CA374990879 |
145 | E>D | No |
ClinGen gnomAD |
|
|
CA374990873 rs1484864550 |
146 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 146 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs982563864 CA200309895 |
147 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs775200627 CA5251395 |
148 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374990851 rs1172193041 |
150 | R>G | No |
ClinGen TOPMed |
|
|
CA5251392 rs773785331 |
151 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs144450318 CA5251391 |
153 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1460654796 CA374990823 |
154 | V>F | No |
ClinGen TOPMed |
|
|
COSM1554381 CA5251390 rs748580820 COSM1554382 |
155 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA374990813 rs1361890268 |
156 | T>A | No |
ClinGen gnomAD |
|
|
rs768922033 CA5251388 |
158 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA5251386 rs149254119 |
159 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374990793 rs149254119 |
159 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370316653 CA5251387 |
159 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370316653 CA374990794 |
159 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1564426524 CA374990778 |
161 | E>V | No |
ClinGen Ensembl |
|
|
rs745743332 CA5251384 |
163 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1171921395 CA374990750 |
165 | P>L | No |
ClinGen gnomAD |
|
|
CA5251381 rs79510013 |
168 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758191915 CA5251379 |
169 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763827012 CA5251380 |
169 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764785438 CA5251377 |
170 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147338057 CA5251378 |
170 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759112889 CA5251376 |
171 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169885154 CA374989316 |
172 | R>S | No |
ClinGen gnomAD |
|
|
CA5251375 rs750858835 |
172 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260766030 CA374989315 |
173 | A>T | No |
ClinGen TOPMed |
|
|
CA374989310 rs1346467275 |
173 | A>V | No |
ClinGen TOPMed |
|
|
CA5251314 rs753151452 |
174 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1194041627 CA374989286 |
177 | P>Q | No |
ClinGen gnomAD |
|
|
rs755324244 CA5251312 |
179 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5251313 rs565646089 |
179 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1588516336 CA374989268 |
180 | G>D | No |
ClinGen Ensembl |
|
|
rs754055457 CA5251311 |
180 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5251310 rs35019975 |
181 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5251308 rs773488124 |
182 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767705738 CA5251307 |
184 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs770390338 COSM1460131 COSM1105402 CA5251277 |
186 | F>L | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA374987321 rs1449470693 |
187 | S>F | No |
ClinGen gnomAD |
|
|
rs1288569517 CA374987316 |
188 | K>E | No |
ClinGen gnomAD |
|
|
CA374987299 rs1205169040 |
189 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs746543925 CA5251276 |
190 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5251275 rs779456864 |
190 | K>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1597984 COSM1105398 CA200296739 rs865979565 |
194 | D>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA5251274 rs769105159 |
196 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA200296733 rs962916135 |
200 | L>F | No |
ClinGen TOPMed |
|
|
CA374987112 rs1276882241 |
201 | H>R | No |
ClinGen gnomAD |
|
|
CA374987120 rs1177958298 |
201 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA374987101 rs1166876462 |
202 | K>E | No |
ClinGen Ensembl |
|
|
rs1330699288 CA374987084 |
203 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750630588 CA5251270 |
206 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374986998 rs1168478749 |
208 | L>V | No |
ClinGen gnomAD |
|
|
rs757336002 CA5251268 |
212 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs751647039 CA5251267 |
212 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764088170 CA5251266 |
213 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764088170 CA374986917 |
213 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5251263 rs764964824 |
216 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5251262 rs759359849 |
216 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 217 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204319643 CA374986844 |
218 | H>Q | No |
ClinGen gnomAD |
|
|
CA5251261 rs776237326 |
218 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369775951 CA5251259 |
224 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5251258 rs772668891 |
224 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA374986769 rs1344589910 |
225 | I>M | No |
ClinGen gnomAD |
|
|
CA5251257 rs771621637 |
227 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766055901 CA5251243 |
230 | S>* | No |
ClinGen ExAC |
|
|
rs1248447877 CA374986707 |
233 | L>F | No |
ClinGen gnomAD |
|
|
rs1297206906 CA374986700 |
235 | Q>K | No |
ClinGen TOPMed |
|
|
CA5251241 rs772902295 |
236 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540690550 CA5251240 |
236 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374986689 rs540690550 |
236 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867759735 CA200295295 |
238 | G>C | No |
ClinGen Ensembl |
|
|
rs1222490590 CA374986678 |
238 | G>D | No |
ClinGen gnomAD |
|
|
rs770369098 CA5251237 |
239 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228273556 CA374986658 |
241 | L>F | No |
ClinGen gnomAD |
|
|
CA200295267 rs916800869 |
242 | I>V | No |
ClinGen Ensembl |
|
|
rs746239964 COSM1265475 COSM1265476 CA5251236 |
243 | R>W | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA374986614 rs1216271069 |
248 | S>T | No |
ClinGen TOPMed |
|
|
rs771313157 CA374986607 |
249 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs771313157 CA5251234 |
249 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA374986609 rs1261330355 |
249 | L>V | No |
ClinGen TOPMed |
|
|
rs1564414981 CA374986603 |
250 | G>D | No |
ClinGen Ensembl |
|
|
COSM3788176 rs778023989 COSM3788178 COSM3788177 COSM3788179 CA5251232 |
251 | D>N | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs201703040 CA5251231 |
253 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5251228 rs754838736 |
257 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5251227 rs372007710 |
257 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372007710 CA374986557 |
257 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5251225 rs755910926 |
259 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA374986547 rs755910926 |
259 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs575748112 CA5251224 |
259 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575748112 CA374986545 |
259 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5251226 rs755910926 |
259 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1489559295 CA374986535 |
261 | Q>K | No |
ClinGen gnomAD |
|
|
CA5251223 rs767151940 |
262 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458266364 CA374986524 |
262 | A>V | No |
ClinGen Ensembl |
|
|
CA374986519 rs1343515365 CA374986518 |
263 | L>F | No |
ClinGen gnomAD |
|
|
CA5251222 rs761424066 |
263 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA374986497 rs1226731334 |
266 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763693572 CA5251220 |
268 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs777173608 CA5251218 |
270 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA200295188 rs754296143 |
275 | G>V | No |
ClinGen Ensembl |
|
|
rs570813230 CA200295171 |
276 | E>K | No |
ClinGen gnomAD |
|
|
rs1372313711 CA374986383 |
277 | S>I | No |
ClinGen gnomAD |
|
|
CA374986391 rs1384118821 |
277 | S>R | No |
ClinGen TOPMed |
|
|
CA374986375 rs1176467104 |
278 | Y>H | No |
ClinGen gnomAD |
|
|
rs1588501088 CA374986351 |
279 | T>I | No |
ClinGen Ensembl |
|
|
rs1284373068 CA374986342 |
280 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 282 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367773100 CA374986157 |
288 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367773100 CA5251213 |
288 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5251211 rs768705294 |
289 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1564414827 CA374986057 |
292 | H>Y | No |
ClinGen Ensembl |
|
|
CA200295116 rs982557076 |
293 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA374986036 rs982557076 |
293 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA374985997 rs1235813564 |
295 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA374986002 rs1235813564 |
295 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA374985967 rs1378310052 |
297 | V>M | No |
ClinGen TOPMed |
|
|
CA5251205 COSM1460130 rs143231219 COSM1460129 |
298 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5251204 rs570129981 |
298 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763746623 CA5251203 |
300 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs976404199 CA200295070 |
302 | G>R | No |
ClinGen Ensembl |
|
|
rs756130268 CA5251201 |
304 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766859565 CA5251200 |
304 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5251202 rs756130268 |
304 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5251199 rs760958717 |
306 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA200295009 rs942638263 |
310 | Q>K | No |
ClinGen TOPMed |
|
|
rs909763467 CA200295008 |
312 | G>V | No |
ClinGen TOPMed |
|
|
CA5251197 rs576796086 |
314 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379665611 CA374985603 |
315 | I>F | No |
ClinGen TOPMed |
|
|
CA374985567 rs1180024814 |
317 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs562363066 CA200295006 |
317 | C>R | No |
ClinGen Ensembl |
|
|
rs1180024814 CA374985569 |
317 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1437777105 CA374985542 |
318 | P>L | No |
ClinGen gnomAD |
|
|
rs1202624718 CA374985506 |
321 | R>C | No |
ClinGen gnomAD |
|
|
rs1482463796 CA374985504 |
321 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA374985498 rs1260922177 |
322 | T>P | No |
ClinGen gnomAD |
|
|
CA200294999 rs749855816 |
323 | F>L | No |
ClinGen Ensembl |
|
|
CA374985455 rs1588500857 |
325 | L>V | No |
ClinGen Ensembl |
|
|
rs200833376 CA5251194 |
326 | R>C | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs749342635 CA5251193 |
326 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749342635 CA374985441 |
326 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374985411 rs1263880480 |
328 | L>R | No |
ClinGen TOPMed |
|
|
CA5251191 rs769707691 |
329 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745790230 CA5251190 |
332 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA5251189 rs781191281 |
335 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1564414629 CA374985309 |
336 | Q>E | No |
ClinGen Ensembl |
|
|
CA5251188 rs757096056 |
336 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs200412602 CA200294911 |
337 | G>R | No |
ClinGen Ensembl |
|
|
rs1391037081 CA374985251 |
339 | S>R | No |
ClinGen gnomAD |
|
|
rs149146405 CA5251186 |
340 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5251184 rs146755904 |
341 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1177516300 CA374985226 |
341 | P>L | No |
ClinGen TOPMed |
|
|
CA5251183 rs146755904 |
341 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146755904 CA5251185 |
341 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5251182 rs143526802 |
342 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374985184 rs1190196297 |
344 | P>L | No |
ClinGen gnomAD |
|
|
rs199532954 COSM1460128 COSM1460127 CA5251180 |
345 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA374985145 rs1338707015 |
347 | P>L | No |
ClinGen gnomAD |
|
|
CA374985128 rs1465077257 |
348 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA374985139 rs1209677797 |
348 | S>T | No |
ClinGen gnomAD |
|
|
rs1297418049 CA374985122 |
349 | G>D | No |
ClinGen gnomAD |
|
|
CA374985113 rs1329915469 |
350 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 351 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1349289760 CA374985092 |
351 | K>R | No |
ClinGen gnomAD |
|
|
rs774581895 CA5251177 |
353 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246925561 CA374985059 |
354 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs764245494 CA5251176 |
354 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs146487344 CA5251175 |
355 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775707255 CA5251174 |
355 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA5251172 rs745868179 |
357 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5251173 rs149897538 |
357 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5251171 rs776678290 |
358 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs373936140 CA200294854 |
358 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA374984986 rs1456846067 |
359 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5251169 rs61754496 |
360 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 361 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374984940 rs1190545898 |
362 | M>T | No |
ClinGen gnomAD |
|
|
CA5251167 rs758000416 |
362 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200294846 rs868715534 |
363 | T>I | No |
ClinGen gnomAD |
|
|
CA374984906 rs1487374466 |
364 | D>E | No |
ClinGen TOPMed |
|
|
rs142059103 CA5251165 |
364 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5251166 rs142059103 |
364 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5251164 rs754420080 |
367 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929711989 CA200294845 |
368 | A>P | No |
ClinGen TOPMed |
|
|
CA374984799 rs1588500511 |
372 | T>P | No |
ClinGen Ensembl |
|
|
rs1367072826 CA374984784 |
373 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM338884 rs767967113 CA5251162 |
373 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs767967113 CA200294832 |
373 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374984772 rs1323455435 |
374 | S>N | No |
ClinGen TOPMed |
|
|
rs751858191 CA5251160 |
375 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368780382 CA5251158 |
376 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374984740 rs1365575523 |
376 | G>V | No |
ClinGen gnomAD |
|
|
rs546135106 CA5251157 |
377 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1167660899 CA374984705 |
378 | P>L | No |
ClinGen gnomAD |
|
|
CA374984695 rs1564414323 |
379 | T>S | No |
ClinGen Ensembl |
|
|
CA374984678 rs1246915042 |
380 | S>N | No |
ClinGen gnomAD |
|
|
CA5251135 rs766559784 |
381 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766559784 CA374984073 |
381 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773258288 CA5251133 |
382 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA200293327 rs1036536192 |
384 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5251130 rs774070559 |
385 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs140336739 CA5251129 |
385 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5251127 rs61761895 |
387 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1298897169 CA374984045 |
387 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1298897169 CA374984047 |
387 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs61761895 CA5251128 |
387 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 388 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769273736 CA5251126 |
390 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA374984023 rs1386182046 |
391 | R>C | No |
ClinGen gnomAD |
|
|
rs374525455 CA5251125 |
391 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5251122 rs752945163 |
395 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA374983986 rs1312613057 |
396 | S>R | No |
ClinGen TOPMed |
|
|
rs779198576 CA5251121 |
397 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1210715613 CA374983982 |
397 | M>L | No |
ClinGen gnomAD |
|
|
CA200293292 rs915593071 |
399 | Q>H | No |
ClinGen TOPMed |
|
|
CA374983964 rs1203524679 |
399 | Q>R | No |
ClinGen TOPMed |
|
|
CA5251120 rs755314918 |
401 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 401 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267563689 CA374983945 |
402 | D>G | No |
ClinGen TOPMed |
|
|
rs754097500 CA5251119 |
403 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs200319475 CA200293276 |
404 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5251117 rs760802114 |
405 | S>T | No |
ClinGen ExAC |
|
|
rs1381671769 CA374983921 |
406 | P>R | No |
ClinGen gnomAD |
|
|
rs1332864658 CA374983918 |
407 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA374983905 rs1320771163 |
408 | S>L | No |
ClinGen gnomAD |
|
|
rs767303936 CA5251115 |
409 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168815688 CA374983894 |
410 | I>T | No |
ClinGen TOPMed |
|
|
CA374983888 rs866561738 |
411 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA200293258 rs866561738 |
411 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs144096462 CA5251112 |
412 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1727378 COSM1727379 CA5251113 rs774083450 |
412 | E>K | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5251111 rs762645874 |
413 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5251110 rs775092961 |
413 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 414 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5251109 rs769325057 |
415 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374983852 rs1564413099 |
417 | P>R | No |
ClinGen Ensembl |
|
|
rs778357310 CA5251106 |
418 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 419 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374983836 rs1478791978 |
420 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 420 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200293182 rs887437042 |
420 | S>N | No |
ClinGen Ensembl |
|
|
rs781179615 CA5251076 |
424 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1597985 rs560290474 CA5251075 COSM1105396 |
424 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA374983322 rs560290474 |
424 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA374983300 rs1253962386 |
426 | H>R | No |
ClinGen TOPMed |
|
|
COSM2156950 CA5251073 COSM3413351 rs763971193 COSM2156949 |
428 | A>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA200291831 rs1016330774 |
429 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1460275618 CA374983240 |
433 | S>F | No |
ClinGen gnomAD |
|
|
rs752422850 CA5251071 |
435 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177026651 CA374983222 |
435 | T>I | No |
ClinGen gnomAD |
|
|
CA5251070 rs534443657 |
436 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5251068 rs765844909 |
437 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1483675136 CA374983199 |
438 | P>A | No |
ClinGen gnomAD |
|
|
rs1483675136 CA374983198 |
438 | P>S | No |
ClinGen gnomAD |
|
|
CA374983188 rs1253270433 |
439 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA374983175 rs1334210726 |
440 | S>C | No |
ClinGen gnomAD |
|
|
rs1588494897 CA374983180 |
440 | S>P | No |
ClinGen Ensembl |
|
|
rs1327683388 CA374983155 |
442 | V>A | No |
ClinGen TOPMed |
|
|
rs61761896 CA374983153 |
443 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61761896 CA5251065 |
443 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5251064 COSM3699435 COSM3699433 rs61761896 COSM3699434 |
443 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5251063 rs368075724 |
444 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1210425457 CA374983140 |
444 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA200291782 rs948789968 |
445 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5251062 rs776057887 |
445 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA374983118 rs1351105195 |
447 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1351105195 CA374983120 |
447 | S>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 448 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777457171 CA200291762 |
449 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1389506719 CA374983060 |
452 | C>R | No |
ClinGen gnomAD |
|
|
rs1564411804 CA374983042 |
453 | P>L | No |
ClinGen Ensembl |
|
|
rs2233510 CA374983037 |
454 | G>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs978473227 CA200291739 |
454 | G>E | No |
ClinGen TOPMed |
|
|
CA5251057 rs2233510 |
454 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374982999 rs1175866720 |
457 | P>L | No |
ClinGen gnomAD |
|
|
rs1588494721 CA374982985 |
459 | T>P | No |
ClinGen Ensembl |
|
|
rs777690834 CA5251054 |
460 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374982975 rs1472955243 |
460 | H>Y | No |
ClinGen gnomAD |
|
|
rs1418966252 CA374982964 |
462 | E>K | No |
ClinGen gnomAD |
|
|
CA5251051 rs778726095 |
463 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1260866941 CA374982925 |
467 | P>R | No |
ClinGen gnomAD |
|
|
rs1462425610 CA374982927 |
467 | P>S | No |
ClinGen gnomAD |
|
|
CA374982915 rs1588494630 |
469 | T>P | No |
ClinGen Ensembl |
|
|
rs987005618 CA200291670 |
472 | S>Y | No |
ClinGen TOPMed |
|
|
rs766004467 CA374982860 |
474 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766004467 CA5251047 |
474 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5251046 rs760111430 |
478 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1028428206 CA200291653 |
479 | S>A | No |
ClinGen TOPMed |
|
|
rs559861860 CA200291651 |
480 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs559861860 CA374982799 |
480 | P>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs559861860 CA374982798 |
480 | P>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs776110834 CA5251042 |
484 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759898004 CA5251040 |
485 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294418607 CA374982704 |
489 | D>N | No |
ClinGen TOPMed |
|
|
rs2233511 CA374982689 |
490 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5251038 rs771116868 |
490 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2233511 CA5251039 |
490 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1443134640 CA374982669 CA374982670 |
491 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 491 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5251036 rs777888111 |
492 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA200291610 rs1021351506 |
493 | G>S | No |
ClinGen Ensembl |
|
|
rs375317237 CA5251034 |
494 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374982647 rs1286722827 |
494 | H>Y | No |
ClinGen TOPMed |
|
|
rs754749096 CA5251032 |
495 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs200983289 CA374982551 |
502 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200983289 CA5251030 |
502 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755856279 CA5251029 |
503 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5251028 COSM3745836 COSM1472169 COSM1472170 rs200786276 |
503 | R>H | liver prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA374982538 rs200786276 |
503 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374982532 rs767180121 |
504 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1003205338 CA200291581 |
504 | G>S | No |
ClinGen gnomAD |
|
|
CA5251027 rs767180121 |
504 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374982523 rs1314059760 |
505 | S>N | No |
ClinGen gnomAD |
|
|
CA374982513 rs1156611883 |
506 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM1554385 CA5251026 rs761368464 COSM1554386 |
506 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA374982500 rs1316388460 |
507 | E>K | No |
ClinGen gnomAD |
|
|
CA374982485 rs1588494362 |
508 | W>G | No |
ClinGen Ensembl |
|
|
rs765719751 CA5251024 |
508 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA5251023 rs759824989 |
509 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142472912 CA5251022 |
510 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA374982394 rs1385036333 |
512 | E>G | No |
ClinGen gnomAD |
|
|
CA374982367 rs1338124046 |
513 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1169545324 CA374982350 |
514 | S>A | No |
ClinGen gnomAD |
|
|
CA5251021 rs771184088 |
515 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA200291544 rs1055335921 |
517 | Q>E | No |
ClinGen TOPMed |
|
|
rs1374417967 CA374982262 |
517 | Q>H | No |
ClinGen gnomAD |
|
|
rs760935914 CA5251020 |
518 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs138224789 CA5251018 |
524 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA200291491 rs903894910 |
524 | R>K | No |
ClinGen TOPMed |
|
|
rs138224789 CA374982129 |
524 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1290777607 CA374982108 |
525 | L>V | No |
ClinGen gnomAD |
|
|
CA5251016 rs778726656 |
530 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs749172322 CA5251014 |
533 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs755945078 CA200291429 |
541 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755945078 CA5251012 |
541 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374981713 rs1309077930 |
546 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA374981712 rs1309077930 |
546 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1482692100 CA374981705 |
547 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs756843099 CA374981675 |
549 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA5251009 rs756843099 |
549 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs751047994 CA5251008 |
551 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200291385 rs867565330 |
552 | S>F | No |
ClinGen Ensembl |
|
|
COSM1569422 rs370528837 CA5251006 COSM1569421 |
555 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5251007 rs375337324 |
555 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5251004 rs766806440 |
557 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766806440 CA374981558 |
557 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5251002 rs773440667 |
559 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA374981414 rs774551766 |
568 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA5250999 rs774551766 |
568 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs376156609 CA5251000 |
568 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1324450555 CA374981407 |
569 | P>L | No |
ClinGen gnomAD |
|
|
CA374981410 rs1408783264 |
569 | P>S | No |
ClinGen TOPMed |
|
|
CA5250998 rs574180679 |
570 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1588494075 CA374981389 |
572 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 573 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374981388 rs1331435122 |
573 | G>S | No |
ClinGen TOPMed |
|
|
rs1345508908 CA374981380 |
574 | L>F | No |
ClinGen gnomAD |
|
|
rs749292590 CA5250997 |
576 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141136835 CA5250995 |
576 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141136835 CA5250996 |
576 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758781808 CA200291299 |
577 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA374981330 rs2233513 |
579 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757039251 CA5250992 |
587 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA5250991 rs142604139 |
588 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs552881453 CA5250989 |
588 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs142604139 CA5250990 |
588 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5250988 rs571887895 |
589 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 590 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372881875 CA5250986 |
592 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148888927 CA5250987 |
592 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5250985 rs750716746 |
593 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5250983 rs538164583 |
594 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs774410116 CA5250982 |
597 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs191866782 CA5250954 |
604 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374980278 rs1485564826 |
605 | L>P | No |
ClinGen TOPMed |
|
|
rs1188401290 CA374980258 |
607 | V>I | No |
ClinGen gnomAD |
|
|
CA5250952 rs772926498 |
608 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140246171 CA200289950 |
611 | M>T | No |
ClinGen ESP TOPMed |
|
|
CA5250951 rs771555665 |
612 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374980191 rs771555665 |
612 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747830158 CA5250950 |
612 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374980169 rs1290066297 |
613 | T>I | No |
ClinGen gnomAD |
|
|
rs1245680938 CA374980152 |
615 | M>T | No |
ClinGen gnomAD |
|
|
rs1166444689 CA374980123 |
617 | V>A | No |
ClinGen TOPMed |
|
|
CA5250949 rs536814228 |
618 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1215863553 CA374980110 |
618 | R>L | No |
ClinGen gnomAD |
|
|
CA200289908 rs1047279080 |
619 | W>C | No |
ClinGen Ensembl |
|
|
CA200289903 rs374235995 |
620 | G>S | No |
ClinGen Ensembl |
|
|
rs781631366 CA5250946 |
621 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA374980031 rs1342941418 |
625 | T>A | No |
ClinGen TOPMed |
|
|
CA374980033 rs1342941418 |
625 | T>P | No |
ClinGen TOPMed |
|
|
CA374980001 rs1588491641 |
627 | P>S | No |
ClinGen Ensembl |
|
|
rs751806041 CA5250944 |
628 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA374979978 rs1588491627 |
628 | H>Q | No |
ClinGen Ensembl |
|
|
CA374979959 rs1457191573 |
630 | R>Q | No |
ClinGen gnomAD |
|
|
CA5250942 rs758608953 |
631 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA5250941 rs752942885 |
635 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA374979882 rs1423017596 |
636 | L>Q | No |
ClinGen gnomAD |
|
|
rs1172002487 CA374979744 |
640 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 641 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5250920 rs753898347 |
642 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs994067813 CA200289123 |
643 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA374979670 rs1157427362 |
646 | M>L | No |
ClinGen gnomAD |
|
|
rs756061052 CA5250918 |
649 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750346642 CA5250917 |
650 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5250916 rs767250604 |
651 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs774010131 CA5250914 |
652 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 652 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374979584 rs774010131 |
652 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5250915 rs761551007 |
652 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5250913 rs763670465 |
653 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5250911 rs775040036 |
654 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA374979488 rs1315423913 |
658 | A>E | No |
ClinGen gnomAD |
|
|
CA5250908 rs773727966 |
659 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5250905 rs779277705 |
663 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145622720 CA5250906 |
663 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5250903 rs140177554 |
667 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA200288971 rs140177554 |
667 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750353441 CA5250900 |
669 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1366352596 CA374979261 |
670 | Q>K | No |
ClinGen gnomAD |
|
|
rs1412638047 CA374979248 |
670 | Q>R | No |
ClinGen TOPMed |
|
|
rs1447052933 CA374979197 |
673 | A>T | No |
ClinGen gnomAD |
|
|
CA5250898 rs757053855 |
674 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA5250897 rs751422671 |
676 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1487882253 CA374979122 |
676 | R>W | No |
ClinGen gnomAD |
|
|
CA374979114 rs1224423417 |
677 | G>R | No |
ClinGen gnomAD |
|
|
rs1354596639 CA374979095 |
679 | M>V | No |
ClinGen gnomAD |
|
|
rs200951769 CA200288913 |
684 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1293443058 CA374978910 |
686 | A>V | No |
ClinGen gnomAD |
|
|
rs1477034866 CA374978877 |
689 | M>I | No |
ClinGen gnomAD |
|
|
rs923458630 CA200288885 |
689 | M>T | No |
ClinGen TOPMed |
|
|
CA5250896 rs763864739 |
690 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366721982 CA374978865 |
691 | A>T | No |
ClinGen gnomAD |
|
|
CA200288866 rs910736683 |
693 | D>G | No |
ClinGen gnomAD |
|
|
rs1162304118 CA374978814 |
694 | M>V | No |
ClinGen gnomAD |
|
|
rs1588489905 CA374978773 |
695 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 696 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5250882 rs773273538 |
699 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200394968 CA5250883 |
699 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1588487918 CA374977718 |
700 | L>R | No |
ClinGen Ensembl |
|
|
CA374977685 rs1588487916 |
701 | E>G | No |
ClinGen Ensembl |
|
|
CA374977658 rs1429320212 |
702 | Q>E | No |
ClinGen gnomAD |
|
|
rs939094512 CA200286485 |
703 | T>I | No |
ClinGen Ensembl |
|
|
rs1588487874 CA374977454 |
706 | T>P | No |
ClinGen Ensembl |
|
|
rs777586690 CA5250878 |
708 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751477696 CA5250879 |
708 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5250877 rs758148043 |
710 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752313584 CA5250876 |
710 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752313584 CA374977349 |
710 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764884922 CA374977220 |
714 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374977242 rs1181884159 |
714 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5250875 rs764884922 |
714 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217985916 CA374977191 |
715 | A>V | No |
ClinGen gnomAD |
|
|
rs774862408 CA200286432 |
719 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774862408 CA5250873 |
719 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762455991 CA5250871 |
722 | L>F | No |
ClinGen ExAC |
|
|
rs762455991 CA374977003 |
722 | L>V | No |
ClinGen ExAC |
|
|
CA374976904 rs1378708178 |
724 | P>A | No |
ClinGen gnomAD |
|
|
CA374976901 rs1378708178 |
724 | P>T | No |
ClinGen gnomAD |
|
|
CA200286414 rs930342327 |
726 | L>V | No |
ClinGen Ensembl |
|
|
CA374976733 rs1445529794 |
728 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5250870 rs774965690 |
728 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374976716 rs1177530492 |
729 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs769167149 CA5250869 |
730 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs144265648 CA5250867 |
731 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs968291881 CA200286021 |
735 | G>A | No |
ClinGen gnomAD |
|
|
CA5250847 rs201758152 |
736 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201758152 CA374976269 |
736 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771018053 CA5250844 |
737 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752517768 CA374976190 |
739 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs890301085 CA200285978 |
741 | T>I | No |
ClinGen TOPMed |
|
|
CA374976149 rs1351887434 |
741 | T>S | No |
ClinGen gnomAD |
|
|
rs773135283 CA5250842 |
742 | T>M | No |
ClinGen ExAC TOPMed |
|
|
CA374976054 rs1285897657 |
745 | H>R | No |
ClinGen TOPMed |
|
|
rs772110368 CA5250841 |
745 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374976038 rs1477165261 |
746 | V>M | No |
ClinGen gnomAD |
|
|
CA374976022 rs1200658622 |
747 | L>V | No |
ClinGen gnomAD |
|
|
rs370907369 CA5250839 |
748 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370907369 CA374975985 |
748 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374975946 rs1588486914 |
751 | T>P | No |
ClinGen Ensembl |
|
|
CA200285928 rs913235933 |
751 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5250836 rs779796508 |
755 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779796508 CA374975893 |
755 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200285899 rs543836044 |
756 | D>E | No |
ClinGen TOPMed |
|
|
CA5250834 rs201649998 |
757 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765668544 CA374975822 |
761 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765668544 CA5250830 |
761 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5250829 rs759773535 |
762 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1355329669 CA374975792 |
763 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA374975766 rs1464106984 |
765 | P>T | No |
ClinGen gnomAD |
|
|
CA5250828 rs373114224 |
769 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1334908219 CA374975689 |
771 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 772 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5250825 rs138189803 |
772 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5250823 rs748155808 |
773 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1200038354 CA374975601 |
778 | A>V | No |
ClinGen gnomAD |
|
|
rs970636647 CA200285840 |
781 | E>A | No |
ClinGen Ensembl |
|
| TCGA novel | 782 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747442330 COSM1460122 COSM1460121 CA200285833 |
783 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM3699432 rs1304844231 COSM3699431 CA374975531 COSM3699430 |
784 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs749026095 CA5250820 |
784 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5250821 rs749026095 |
784 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs995010680 CA200285826 |
790 | G>R | No |
ClinGen gnomAD |
|
|
rs779992338 CA5250819 |
791 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374975462 rs779992338 |
791 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780799126 CA5250816 |
792 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1298573982 CA374975427 |
796 | N>S | No |
ClinGen gnomAD |
|
|
CA374975388 rs1420029347 |
802 | Q>* | No |
ClinGen gnomAD |
|
|
CA374975358 rs1214177564 |
804 | F>L | No |
ClinGen gnomAD |
|
|
CA374975346 rs1353313899 |
806 | A>S | No |
ClinGen gnomAD |
|
|
CA374975342 rs780436209 |
807 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs756429820 CA374975340 |
807 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756429820 COSM1460119 COSM1460120 CA5250790 |
807 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs780436209 CA5250791 |
807 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1238916049 CA374975334 |
808 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1321158787 CA374975331 |
809 | E>* | No |
ClinGen TOPMed |
|
|
rs1314898069 CA374975288 |
815 | S>N | No |
ClinGen gnomAD |
|
|
rs762092671 CA5250787 |
816 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA5250785 rs764211868 |
821 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201353110 CA5250784 |
821 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374975185 rs1163510196 |
823 | L>I | No |
ClinGen gnomAD |
|
|
rs372346297 CA200285277 |
824 | W>* | No |
ClinGen ESP gnomAD |
|
|
CA374975119 rs1186204864 |
828 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA374975076 rs1265213776 |
829 | A>D | No |
ClinGen gnomAD |
|
|
rs769736734 CA5250782 |
831 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs759348342 CA374974990 |
833 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5250781 rs759348342 |
833 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770552465 CA374974953 |
835 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770552465 CA5250779 |
835 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776348537 CA5250780 |
835 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5250778 rs746657157 |
836 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200069549 CA5250777 |
836 | R>H | Variant assessed as Somatic; 0.0003052 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746657157 CA200285241 |
836 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5250776 rs771539092 |
837 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA374974875 rs1276878645 COSM3847696 COSM3847695 COSM3847697 |
838 | E>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1564407257 CA374974869 |
838 | E>A | No |
ClinGen Ensembl |
|
|
CA374974882 rs1276878645 |
838 | E>K | No |
ClinGen gnomAD |
|
|
CA374974844 rs1588485171 |
839 | K>R | No |
ClinGen Ensembl |
|
|
CA374974789 rs1388131537 |
841 | D>G | No |
ClinGen gnomAD |
|
|
CA5250773 rs780489062 |
841 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374974772 rs1588485136 |
842 | K>E | No |
ClinGen Ensembl |
|
|
rs756482792 CA5250772 |
842 | K>R | No |
ClinGen ExAC |
|
|
rs1162174355 CA374974757 |
843 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA200285218 rs1011506993 |
848 | S>C | No |
ClinGen Ensembl |
|
|
CA5250771 rs746286591 |
850 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA374974574 rs1465674388 |
850 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 851 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374974545 rs1168485910 |
851 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5250770 rs781610078 |
853 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA374974510 rs781610078 |
853 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1450126544 CA374974489 |
855 | V>I | No |
ClinGen gnomAD |
|
|
rs757470158 CA5250769 |
856 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5250768 rs751775128 |
856 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374974451 rs751775128 |
856 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256158471 CA374974393 |
859 | E>K | No |
ClinGen gnomAD |
No associated diseases with Q8N5H7
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
| phosphotyrosine residue binding | Binding to a phosphorylated tyrosine residue within a protein. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| JNK cascade | An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell. |
| positive regulation of peptidyl-serine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine. |
| small GTPase mediated signal transduction | The series of molecular signals in which a small monomeric GTPase relays a signal. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q58DL5 | BCAR3 | Breast cancer anti-estrogen resistance protein 3 homolog | Bos taurus (Bovine) | PR |
| Q9BRG2 | SH2D3A | SH2 domain-containing protein 3A | Homo sapiens (Human) | PR |
| O75815 | BCAR3 | Breast cancer anti-estrogen resistance protein 3 | Homo sapiens (Human) | PR |
| Q9QZK2 | Bcar3 | Breast cancer anti-estrogen resistance protein 3 homolog | Mus musculus (Mouse) | PR |
| Q9QZS8 | Sh2d3c | SH2 domain-containing protein 3C | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTEGTKKTSK | KFKFFKFKGF | GSLSNLPRSF | TLRRSSASIS | RQSHLEPDTF | EATQDDMVTV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PKSPPAYARS | SDMYSHMGTM | PRPSIKKAQN | SQAARQAQEA | GPKPNLVPGG | VPDPPGLEAA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KEVMVKATGP | LEDTPAMEPN | PSAVEVDPIR | KPEVPTGDVE | EERPPRDVHS | ERAAGEPEAG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SDYVKFSKEK | YILDSSPEKL | HKELEEELKL | SSTDLRSHAW | YHGRIPREVS | ETLVQRNGDF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LIRDSLTSLG | DYVLTCRWRN | QALHFKINKV | VVKAGESYTH | IQYLFEQESF | DHVPALVRYH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VGSRKAVSEQ | SGAIIYCPVN | RTFPLRYLEA | SYGLGQGSSK | PASPVSPSGP | KGSHMKRRSV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TMTDGLTADK | VTRSDGCPTS | TSLPRPRDSI | RSCALSMDQI | PDLHSPMSPI | SESPSSPAYS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TVTRVHAAPA | APSATALPAS | PVARRSSEPQ | LCPGSAPKTH | GESDKGPHTS | PSHTLGKASP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SPSLSSYSDP | DSGHYCQLQP | PVRGSREWAA | TETSSQQARS | YGERLKELSE | NGAPEGDWGK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TFTVPIVEVT | SSFNPATFQS | LLIPRDNRPL | EVGLLRKVKE | LLAEVDARTL | ARHVTKVDCL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VARILGVTKE | MQTLMGVRWG | MELLTLPHGR | QLRLDLLERF | HTMSIMLAVD | ILGCTGSAEE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RAALLHKTIQ | LAAELRGTMG | NMFSFAAVMG | ALDMAQISRL | EQTWVTLRQR | HTEGAILYEK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KLKPFLKSLN | EGKEGPPLSN | TTFPHVLPLI | TLLECDSAPP | EGPEPWGSTE | HGVEVVLAHL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EAARTVAHHG | GLYHTNAEVK | LQGFQARPEL | LEVFSTEFQM | RLLWGSQGAS | SSQARRYEKF |
| 850 | |||||
| DKVLTALSHK | LEPAVRSSEL |