Q8IZA0
PR
Gene name |
KIAA0319L |
Protein name |
Dyslexia-associated protein KIAA0319-like protein |
Names |
Adeno-associated virus receptor, AAVR |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79932 |
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
10 structures for Q8IZA0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2YRL | NMR | - | A | 600-688 | PDB |
| 6IHB | EM | 284 A | R | 404-497 | PDB |
| 6JCQ | EM | 330 A | R | 407-497 | PDB |
| 6JCS | EM | 318 A | R | 305-401 | PDB |
| 6NZ0 | EM | 240 A | Z | 311-597 | PDB |
| 7KPN | EM | 190 A | Z | 311-500 | PDB |
| 7TI5 | EM | 240 A | Z | 311-597 | PDB |
| 7WJX | EM | 323 A | R | 403-497 | PDB |
| 7WQP | EM | 376 A | R | 405-496 | PDB |
| AF-Q8IZA0-F1 | Predicted | AlphaFoldDB |
731 variants for Q8IZA0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs142411848 CA759953 |
3 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 4 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA759952 rs376111599 |
5 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774510433 CA759950 |
6 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 6 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA20629736 rs969627818 |
7 | V>I | No |
ClinGen Ensembl |
|
|
CA339342383 rs1232649199 |
10 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1299014059 CA339342375 |
11 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339342376 rs1299014059 |
11 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1024879953 CA20629722 |
11 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1024879953 CA339342379 |
11 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1228408337 CA339342370 |
12 | A>G | No |
ClinGen gnomAD |
|
|
rs1286706480 CA339342362 |
14 | W>R | No |
ClinGen gnomAD |
|
|
CA20629721 rs1012601103 |
15 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA759947 rs776599568 |
17 | S>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 19 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324573611 CA339342321 |
20 | Y>H | No |
ClinGen TOPMed |
|
|
CA759946 rs768626101 |
24 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs374190673 CA20629674 |
25 | A>S | No |
ClinGen ESP TOPMed |
|
|
rs746566616 CA759945 |
25 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20629633 rs962004095 |
26 | K>R | No |
ClinGen Ensembl |
|
|
CA339342240 rs1558692024 |
31 | L>P | No |
ClinGen Ensembl |
|
|
rs1417441241 CA339342233 |
32 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1469832754 CA339342229 |
33 | L>V | No |
ClinGen TOPMed |
|
|
rs1005559870 CA20629616 |
36 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 37 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 37 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339342185 rs1183713786 |
38 | F>S | No |
ClinGen gnomAD |
|
|
rs1014901352 CA20629601 |
39 | C>F | No |
ClinGen TOPMed |
|
|
rs1209104916 CA339342145 |
41 | S>T | No |
ClinGen gnomAD |
|
|
CA339342134 rs1275924295 |
42 | V>I | No |
ClinGen gnomAD |
|
|
CA339342125 rs1306317451 |
43 | L>Q | No |
ClinGen gnomAD |
|
|
CA759940 rs757733842 |
43 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs952296449 CA20629560 |
46 | S>L | No |
ClinGen Ensembl |
|
|
rs545217767 CA759939 |
47 | T>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA339342083 rs1194268433 |
48 | D>N | No |
ClinGen TOPMed |
|
|
rs1447961292 CA339349459 |
49 | A>V | No |
ClinGen gnomAD |
|
|
rs555469513 CA20639459 |
50 | S>G | No |
ClinGen 1000Genomes |
|
|
CA339349398 rs1376545473 |
51 | E>D | No |
ClinGen gnomAD |
|
|
rs41307898 CA20639455 |
55 | Q>H | No |
ClinGen Ensembl |
|
|
CA759916 rs748886892 |
56 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1351995991 CA339349220 |
58 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 60 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371019793 CA339349094 |
63 | V>I | No |
ClinGen gnomAD |
|
|
rs138793194 CA20639437 |
64 | G>D | No |
ClinGen 1000Genomes |
|
|
CA759913 rs753281189 |
64 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA759912 rs781521479 |
66 | R>K | No |
ClinGen ExAC |
|
|
CA759911 rs755101301 |
69 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA339348867 rs1570878356 |
72 | H>P | No |
ClinGen Ensembl |
|
|
CA759909 rs766656209 |
74 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759908 rs763166203 |
74 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs751625505 CA759910 |
74 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339348800 rs1458988046 |
75 | L>F | No |
ClinGen gnomAD |
|
|
CA20639385 rs759117879 |
77 | E>K | No |
ClinGen Ensembl |
|
|
CA759907 rs750553258 |
79 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1570878213 CA339348693 |
79 | T>P | No |
ClinGen Ensembl |
|
|
rs763969655 CA759906 |
80 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553214972 CA759904 |
82 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1570878043 CA339348608 |
82 | L>P | No |
ClinGen Ensembl |
|
|
rs760346376 CA759902 |
83 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759901 rs775535308 |
83 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs971728945 CA20639370 |
84 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339348487 rs1479537089 |
88 | A>V | No |
ClinGen TOPMed |
|
|
rs1366643744 CA339348384 |
92 | D>A | No |
ClinGen gnomAD |
|
|
CA339348381 rs1366643744 |
92 | D>G | No |
ClinGen gnomAD |
|
|
rs1268388616 CA339348343 |
94 | A>P | No |
ClinGen gnomAD |
|
|
CA759898 rs557771050 |
98 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs961707038 CA20639364 |
99 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs750327559 CA759897 |
103 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs900320247 CA20639334 |
103 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA759894 rs190988144 |
104 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748974862 CA759895 |
104 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs748440748 CA759892 |
106 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs748440748 CA759893 |
106 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA20639306 rs1008610233 |
107 | Q>R | No |
ClinGen TOPMed |
|
|
CA339348005 rs1389581028 |
108 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 114 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339347934 rs1278494812 |
116 | C>F | No |
ClinGen TOPMed |
|
|
rs866481057 CA20639287 |
117 | R>Q | No |
ClinGen TOPMed |
|
|
rs144745631 CA759889 |
117 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1177307639 CA339347909 |
118 | A>P | No |
ClinGen gnomAD |
|
|
CA759888 rs780120294 |
120 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758422917 CA759887 |
120 | R>S | No |
ClinGen ExAC |
|
|
rs765342779 CA759885 |
122 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA759886 rs765009216 |
122 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA759883 rs752417742 CA759884 |
125 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs767625823 CA759882 |
127 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA339347739 rs1204210021 |
128 | L>P | No |
ClinGen gnomAD |
|
|
rs774385527 CA759880 |
130 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA759879 rs766020293 |
131 | L>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA759878 rs41310436 COSM1255551 |
131 | L>F | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 133 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1383796563 | 134 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA20639244 rs764884120 |
134 | F>L | No |
ClinGen Ensembl |
|
|
rs772967420 CA759877 |
138 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA339347481 rs1469495379 |
143 | L>Q | No |
ClinGen gnomAD |
|
|
CA759875 rs748613412 |
147 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1317837929 CA339347425 |
147 | D>G | No |
ClinGen gnomAD |
|
|
CA759876 rs568227582 |
147 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776864360 CA759874 |
148 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA339347416 rs1303780717 |
149 | P>A | No |
ClinGen gnomAD |
|
|
CA20639222 rs867386786 |
149 | P>L | No |
ClinGen Ensembl |
|
|
rs1339010568 CA339347404 |
151 | L>I | No |
ClinGen TOPMed |
|
|
CA759871 rs780497193 |
155 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs780497193 CA759872 |
155 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA339347374 rs1393741357 |
156 | W>* | No |
ClinGen gnomAD |
|
|
rs758512516 CA759870 |
157 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757412818 CA759867 |
159 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA759868 rs779251390 |
159 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs779251390 CA339347353 |
159 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA759866 rs754022734 |
161 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20639182 rs754022734 |
161 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 162 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1485224542 CA339347325 |
163 | Q>R | No |
ClinGen gnomAD |
|
|
rs1261982562 CA339347320 |
164 | S>G | No |
ClinGen gnomAD |
|
|
rs142639527 CA759864 |
164 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs990981721 CA20639177 |
167 | R>S | No |
ClinGen gnomAD |
|
|
rs373389519 CA759863 |
168 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766401196 CA759862 |
169 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA339347284 rs1225415227 |
170 | L>F | No |
ClinGen gnomAD |
|
|
CA339347270 rs1342431523 |
172 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 173 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1445075002 CA339347252 |
175 | S>F | No |
ClinGen TOPMed |
|
|
CA339347254 rs1313713196 |
175 | S>P | No |
ClinGen gnomAD |
|
|
CA759861 rs762583371 |
176 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs772595264 CA759860 |
176 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1244571047 CA339347237 |
178 | D>N | No |
ClinGen TOPMed |
|
|
rs1310293981 CA339347209 |
181 | S>N | No |
ClinGen gnomAD |
|
|
rs546658081 CA759858 |
182 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA759859 rs764738213 |
182 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA339347160 rs1307466607 |
188 | K>R | No |
ClinGen gnomAD |
|
|
CA20639137 rs376726048 |
190 | G>R | No |
ClinGen ESP TOPMed |
|
|
CA759856 rs769040605 |
192 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | P>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA759855 rs747341998 |
193 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA759853 rs371840955 |
195 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA20639118 rs1027545167 |
197 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1027545167 CA339347101 |
197 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs964909346 CA20639117 |
198 | P>L | No |
ClinGen gnomAD |
|
|
rs367669384 CA759852 |
198 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1266210412 CA339347092 |
199 | I>T | No |
ClinGen gnomAD |
|
|
rs1358606760 CA339347095 |
199 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339347082 rs1353845169 |
201 | T>A | No |
ClinGen gnomAD |
|
|
rs778859579 CA759851 |
202 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs775859218 CA759850 |
202 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs749508547 CA759849 |
203 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1327440558 CA339347068 |
203 | H>R | No |
ClinGen gnomAD |
|
|
rs1407672420 CA339347058 |
205 | K>Q | No |
ClinGen gnomAD |
|
|
CA759848 rs778112571 |
206 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339347044 rs1460561349 |
207 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA339347045 rs1460561349 |
207 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA759847 rs754872250 |
207 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA759846 rs751387415 |
208 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1184013458 CA339347036 |
208 | D>Y | No |
ClinGen gnomAD |
|
|
CA339347027 rs1323222404 |
209 | S>F | No |
ClinGen gnomAD |
|
|
CA759845 rs780209166 |
209 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA759843 rs148323343 |
210 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs890576386 CA20639050 |
211 | E>K | No |
ClinGen gnomAD |
|
|
rs1270263931 CA339346973 |
213 | G>D | No |
ClinGen gnomAD |
|
|
CA759840 rs533080996 |
214 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 215 | L>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs796777327 CA20639044 |
218 | S>I | No |
ClinGen Ensembl |
|
|
rs1053597730 CA20639037 |
219 | G>D | No |
ClinGen Ensembl |
|
|
CA759838 rs763731551 |
219 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA339346831 rs1298891987 |
221 | A>V | No |
ClinGen gnomAD |
|
|
rs1401659273 CA339342188 |
223 | V>I | No |
ClinGen TOPMed |
|
|
CA339342164 rs1349210943 |
224 | H>R | No |
ClinGen gnomAD |
|
|
CA339342135 rs1173373218 |
226 | A>T | No |
ClinGen TOPMed |
|
|
rs201085308 CA759829 |
226 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA339342062 rs1425753835 |
231 | S>R | No |
ClinGen TOPMed |
|
|
CA759825 rs141822215 |
232 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141822215 CA759826 |
232 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339342054 rs1254399074 |
232 | P>T | No |
ClinGen TOPMed |
|
|
rs756766016 CA759824 |
233 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA759823 rs144951042 RCV000953423 |
234 | T>A | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA759822 rs763799325 |
234 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20619296 rs763773390 |
235 | T>A | No |
ClinGen gnomAD |
|
|
CA339342035 rs1317250829 |
236 | D>Y | No |
ClinGen TOPMed |
|
|
rs1293647532 CA339342020 |
238 | T>S | No |
ClinGen TOPMed |
|
|
VAR_042644 rs1635712 CA759820 RCV000953422 |
243 | G>D | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM1211888 CA339341993 rs1392071310 |
243 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs141065700 CA759819 |
244 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1311654487 CA339341978 |
245 | P>L | No |
ClinGen TOPMed |
|
|
rs1047961561 CA20619234 COSM908709 |
246 | K>N | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs759916433 CA759818 |
246 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA339341966 rs1212606019 |
247 | N>S | No |
ClinGen gnomAD |
|
|
CA20619222 rs769753959 |
248 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA20619218 rs769753959 |
248 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1209331808 CA339341949 |
250 | V>A | No |
ClinGen gnomAD |
|
|
CA339341953 rs1328717844 |
250 | V>M | No |
ClinGen TOPMed |
|
|
CA20619207 rs920745651 |
252 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA759816 rs771460145 |
253 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759815 rs763193321 |
254 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339341921 rs1459826245 |
255 | S>P | No |
ClinGen TOPMed |
|
|
rs773430729 CA759814 |
256 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA759812 rs748404749 |
257 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA759811 rs376586052 RCV000914828 |
259 | A>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA339341892 rs534099974 |
260 | T>A | No |
ClinGen gnomAD |
|
|
rs534099974 CA20619187 |
260 | T>S | No |
ClinGen gnomAD |
|
|
CA759810 rs771801175 COSM227407 |
261 | T>A | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs745653778 CA759809 |
261 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745653778 CA339341884 |
261 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759808 rs368546533 |
262 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA759807 rs757179337 |
263 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA759806 rs749152633 |
267 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 269 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3386111 rs947849772 CA20619152 |
270 | S>C | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1570751946 CA339341807 |
273 | T>P | No |
ClinGen Ensembl |
|
|
CA339341786 rs1484315810 |
276 | A>P | No |
ClinGen gnomAD |
|
|
CA759805 rs777276368 |
276 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759804 rs755568833 |
277 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1270383276 CA339341772 |
278 | P>L | No |
ClinGen gnomAD |
|
|
rs267598576 CA759803 |
278 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs767178702 CA759802 |
279 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 282 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558416096 CA339341739 |
284 | S>P | No |
ClinGen Ensembl |
|
|
rs1412765528 CA339341731 |
285 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA339341701 rs1298713077 |
289 | T>N | No |
ClinGen gnomAD |
|
|
CA339341696 rs1441507454 |
290 | P>S | No |
ClinGen gnomAD |
|
|
CA759799 rs34372241 RCV000964401 |
291 | T>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs143992851 CA759797 |
292 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143992851 CA20619108 |
292 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143992851 CA759798 |
292 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761951323 CA759795 |
293 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761951323 CA759796 |
293 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759793 rs180971356 |
294 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1399532460 CA339341653 |
297 | Q>H | No |
ClinGen gnomAD |
|
|
CA759792 rs539332530 |
297 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375193133 CA759791 |
299 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774197191 CA759790 |
301 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA339341632 rs774197191 |
301 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1359794060 CA339341629 |
301 | A>V | No |
ClinGen gnomAD |
|
|
CA759789 rs376096202 |
302 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1420573870 CA339341618 |
303 | Y>* | No |
ClinGen TOPMed |
|
|
CA759788 rs144648761 |
303 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769619947 CA759769 |
306 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA20615983 COSM1502749 rs769619947 |
306 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs151103704 CA759768 |
308 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1315001120 CA339341566 |
310 | V>M | No |
ClinGen gnomAD |
|
|
CA20615977 COSM534768 rs1049644756 |
311 | V>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1235065752 CA339341551 |
312 | S>F | No |
ClinGen gnomAD |
|
|
rs749063735 CA759766 |
313 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 315 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384101769 CA339341503 |
319 | I>M | No |
ClinGen gnomAD |
|
|
CA339341486 rs1288641457 |
322 | P>L | No |
ClinGen gnomAD |
|
|
rs1288641457 CA339341487 |
322 | P>R | No |
ClinGen gnomAD |
|
|
rs1452098768 CA339341484 |
323 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA339341476 rs1377727063 |
324 | N>D | No |
ClinGen gnomAD |
|
|
rs868733844 CA20615963 |
330 | A>S | No |
ClinGen gnomAD |
|
|
rs868733844 CA339341432 |
330 | A>T | No |
ClinGen gnomAD |
|
|
rs1393923597 CA339341424 |
331 | Y>C | No |
ClinGen gnomAD |
|
|
CA759763 rs769722144 |
331 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747972700 CA759762 |
332 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1476536404 CA339341339 |
342 | Y>H | No |
ClinGen TOPMed |
|
|
CA339341333 rs1570720358 |
343 | T>P | No |
ClinGen Ensembl |
|
|
CA759742 rs776394136 |
345 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA339341318 rs776394136 |
345 | D>Y | No |
ClinGen ExAC TOPMed |
|
|
CA20613614 rs936773757 |
348 | L>P | No |
ClinGen TOPMed |
|
|
CA339341295 rs1464791256 |
348 | L>V | No |
ClinGen gnomAD |
|
|
rs746478332 CA759740 |
350 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs779908910 CA339341276 |
351 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs779908910 CA759739 |
351 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs771845209 CA759738 |
356 | S>G | No |
ClinGen ExAC |
|
|
rs536162442 CA20613570 |
356 | S>N | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 358 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA759736 rs745446472 |
359 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs902648447 CA20613536 |
363 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339341189 rs902648447 |
363 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1042570294 CA20613520 |
364 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs565665582 CA759733 |
365 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA20613494 rs267598575 |
367 | L>F | No |
ClinGen Ensembl |
|
|
rs1183128585 CA339341157 |
368 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM426163 rs767522854 CA759729 |
370 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA759728 rs759772487 |
371 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA339341117 rs1350511349 |
373 | T>A | No |
ClinGen gnomAD |
|
|
CA759710 rs751821493 |
374 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766489531 CA759709 |
376 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA759707 rs753569304 |
380 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763881799 CA759706 |
381 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA339341028 rs1401080876 |
385 | G>D | No |
ClinGen gnomAD |
|
|
rs556407266 CA20610535 |
388 | A>S | No |
ClinGen Ensembl |
|
|
CA339340969 rs1473204758 |
389 | H>Y | No |
ClinGen TOPMed |
|
|
CA20610528 rs866166397 |
390 | G>W | No |
ClinGen Ensembl |
|
|
CA20610521 rs1003011121 |
392 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1003011121 CA339340911 |
392 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs759083367 CA759702 |
392 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759701 rs573351038 |
393 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339340905 rs1283593271 |
393 | Y>H | No |
ClinGen gnomAD |
|
|
rs573351038 CA339340894 |
393 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA759699 rs748907663 |
394 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs770150318 CA759697 |
396 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770150318 CA339340830 |
396 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759696 rs748685550 |
397 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA339339986 rs556038840 |
402 | P>S | No |
ClinGen gnomAD |
|
|
rs556038840 CA20607665 |
402 | P>T | No |
ClinGen gnomAD |
|
|
COSM186427 rs538303265 CA20607651 |
403 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA759677 rs374148549 |
403 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA759674 rs772141064 |
406 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759673 rs190551485 |
406 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA759675 rs772141064 |
406 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779161449 CA759672 |
409 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs775373228 | 409 | I>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 409 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756018620 CA759670 |
409 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs779161449 CA20607602 |
409 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20607590 rs962157220 |
412 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA20607583 rs1041638063 |
415 | Q>E | No |
ClinGen TOPMed |
|
|
rs143002588 CA20607552 |
416 | F>Y | No |
ClinGen ESP |
|
|
CA339339874 rs1171269759 |
420 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1409603046 CA339339828 |
423 | T>S | No |
ClinGen gnomAD |
|
|
CA759668 rs143411240 |
424 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222396068 CA339339786 |
425 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA759667 rs754983404 |
426 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1475756957 CA339339769 |
426 | T>I | No |
ClinGen gnomAD |
|
|
rs765842800 CA759665 |
428 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1558349258 CA339339686 |
431 | S>R | No |
ClinGen Ensembl |
|
|
rs762493548 CA759664 |
432 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759648 rs780019592 |
433 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs113191530 CA20606269 |
434 | T>I | No |
ClinGen Ensembl |
|
|
CA339339308 rs1262828930 |
436 | D>G | No |
ClinGen TOPMed |
|
|
CA759647 rs372075044 |
436 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1011827745 CA20606264 |
437 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 439 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA759645 rs145317796 |
440 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339339205 rs1264633370 |
441 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA339339214 rs1294998795 |
441 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1219177812 CA339339138 |
444 | W>C | No |
ClinGen gnomAD |
|
|
rs756913649 CA759644 |
447 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1031926671 CA20606236 |
447 | L>V | No |
ClinGen TOPMed |
|
|
CA339338993 rs764470211 |
454 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759642 rs764470211 |
454 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs906881714 CA20606174 |
459 | D>A | No |
ClinGen TOPMed |
|
|
CA20606193 rs929083480 |
459 | D>N | No |
ClinGen gnomAD |
|
|
rs761069262 CA759641 |
460 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761069262 CA339338948 |
460 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441913516 CA339338941 |
461 | A>V | No |
ClinGen gnomAD |
|
|
CA759640 rs775910041 |
464 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339338896 rs1438300189 |
465 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA759639 rs768053972 |
469 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA339338734 rs1472829427 |
475 | F>L | No |
ClinGen TOPMed |
|
|
rs1346262954 CA339338720 |
475 | F>L | No |
ClinGen gnomAD |
|
|
rs1427511625 CA339338716 |
476 | S>G | No |
ClinGen gnomAD |
|
|
rs756492587 CA759621 |
478 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA759619 rs767706293 |
483 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs201597603 CA759620 |
483 | D>N | No |
ClinGen 1000Genomes ExAC |
|
|
rs1173493067 CA339338348 |
485 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs370553807 CA759618 |
485 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs142034343 CA759616 |
487 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs377110749 CA759615 |
487 | N>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA339338302 rs1192747316 |
488 | S>Y | No |
ClinGen gnomAD |
|
|
CA339338285 rs1487237291 |
490 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1259540418 CA339338241 |
492 | N>K | No |
ClinGen gnomAD |
|
|
CA339338248 rs1570662203 |
492 | N>T | No |
ClinGen Ensembl |
|
|
CA759614 rs773630946 |
494 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs533008139 CA759613 |
494 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748254711 CA759612 |
498 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA339338112 rs1570662101 |
501 | Y>S | No |
ClinGen Ensembl |
|
|
CA759611 rs368938917 |
502 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368938917 CA20604117 |
502 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368938917 CA20604121 |
502 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA759608 rs778787484 |
503 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA20604108 rs778787484 |
503 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 504 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339338069 rs1357870475 |
504 | V>M | No |
ClinGen gnomAD |
|
|
rs140131597 CA339338025 |
506 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1400835551 CA339338031 |
506 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1400835551 CA339338033 |
506 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA759604 rs755794086 |
507 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752244391 CA759603 |
509 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476734326 CA339337967 |
510 | N>S | No |
ClinGen gnomAD |
|
|
CA339337935 rs1419875527 |
512 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1188136112 CA339337911 |
514 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs952287691 CA20604086 |
514 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA339337913 rs1188136112 |
514 | T>P | No |
ClinGen gnomAD |
|
|
rs1441808262 CA339337899 |
515 | L>V | No |
ClinGen gnomAD |
|
|
rs755267484 CA759600 |
516 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1451865299 CA339337886 |
517 | Q>P | No |
ClinGen TOPMed |
|
|
CA759599 rs752161698 |
519 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA759598 rs766983923 |
520 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA339337858 rs1361725209 |
521 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs763195469 CA759597 |
521 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199932879 CA20604064 |
526 | Q>E | No |
ClinGen gnomAD |
|
|
rs1244696319 CA339337721 |
530 | D>V | No |
ClinGen gnomAD |
|
|
rs147184109 CA20604062 |
531 | H>N | No |
ClinGen ESP |
|
|
CA339337699 rs1339289020 |
531 | H>R | No |
ClinGen gnomAD |
|
|
rs750538375 CA759595 |
532 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA339337664 rs1558321466 |
533 | I>V | No |
ClinGen Ensembl |
|
|
CA759593 rs762115154 |
536 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA339337561 rs1278182300 |
537 | E>V | No |
ClinGen TOPMed |
|
|
rs1361197184 CA339337496 |
540 | L>F | No |
ClinGen gnomAD |
|
|
rs974881333 CA20604050 |
541 | S>G | No |
ClinGen Ensembl |
|
|
CA20604045 rs963863402 |
543 | S>R | No |
ClinGen gnomAD |
|
|
CA759570 rs372822479 |
553 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs983303423 CA20634663 |
557 | P>S | No |
ClinGen Ensembl |
|
|
CA759568 rs762912068 |
558 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759567 rs772993349 |
561 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759566 rs769396668 |
562 | S>A | No |
ClinGen ExAC |
|
|
rs1263543571 CA339340925 |
563 | A>T | No |
ClinGen TOPMed |
|
|
CA759564 rs368729514 |
563 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1237339231 CA339340920 |
564 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339340904 rs1372636545 |
565 | Q>R | No |
ClinGen gnomAD |
|
|
CA339340896 rs1285939721 |
566 | E>K | No |
ClinGen TOPMed |
|
|
rs1435373912 CA339340885 |
567 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA339340881 rs1320122437 |
568 | D>N | No |
ClinGen gnomAD |
|
|
rs780590077 CA759560 |
574 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1303598070 CA339340797 |
576 | T>I | No |
ClinGen TOPMed |
|
|
rs1477183674 CA339340754 |
580 | G>A | No |
ClinGen gnomAD |
|
|
rs779262729 CA759557 |
583 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1194915990 CA339340704 |
586 | Q>R | No |
ClinGen gnomAD |
|
|
CA759556 rs757411550 |
587 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457736457 CA339340678 |
590 | I>T | No |
ClinGen TOPMed |
|
|
rs149346339 CA20634562 |
592 | Q>* | No |
ClinGen ESP TOPMed |
|
|
CA339340664 rs557623466 |
592 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1570653663 CA339340662 |
593 | P>A | No |
ClinGen Ensembl |
|
|
rs1418173687 CA339340658 |
593 | P>R | No |
ClinGen TOPMed |
|
|
rs762715699 CA759551 |
594 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs762715699 CA759550 |
594 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA759532 rs767713275 |
595 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20633860 rs924657118 |
596 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 600 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 604 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138483880 CA20633830 |
606 | D>E | No |
ClinGen ESP |
|
|
CA759529 rs370257605 |
606 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339340550 rs1280910832 |
608 | E>K | No |
ClinGen TOPMed |
|
|
rs1570650828 CA339340537 |
610 | T>P | No |
ClinGen Ensembl |
|
|
CA339340520 rs1413706431 |
612 | P>L | No |
ClinGen gnomAD |
|
|
CA20633797 rs1044702151 |
617 | T>A | No |
ClinGen TOPMed |
|
|
rs1220276994 CA339340484 |
618 | L>P | No |
ClinGen TOPMed |
|
|
rs1198845714 CA339340472 |
620 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 624 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457097266 CA339340441 |
624 | S>A | No |
ClinGen gnomAD |
|
|
rs775336331 CA759524 |
624 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759523 rs375652027 |
626 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
TCGA novel rs745457141 CA759522 |
628 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA759521 rs774591450 |
629 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20633752 rs1013196998 |
630 | I>V | No |
ClinGen Ensembl |
|
|
rs550612871 CA759519 |
633 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA339340371 rs1310128225 |
634 | W>* | No |
ClinGen gnomAD |
|
|
rs1446307808 CA339340364 |
635 | E>G | No |
ClinGen gnomAD |
|
|
rs145385440 CA759518 |
636 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1570650508 CA339340351 |
637 | T>A | No |
ClinGen Ensembl |
|
|
rs769922078 CA759517 |
638 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA339340324 rs1344570882 |
639 | G>E | No |
ClinGen TOPMed |
|
|
CA339340318 rs1367301241 |
640 | P>L | No |
ClinGen gnomAD |
|
|
CA759499 rs771251256 |
640 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1176757406 CA339340312 |
641 | D>V | No |
ClinGen TOPMed |
|
|
rs763365466 CA759498 |
642 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs748599916 CA759495 |
646 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA759494 rs781276509 |
647 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA20632651 rs929808055 |
650 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs747238907 CA759492 |
650 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 652 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339340230 rs1485234934 |
654 | T>A | No |
ClinGen TOPMed |
|
|
CA759490 rs140862132 |
657 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1380968985 CA339340198 |
659 | Q>R | No |
ClinGen gnomAD |
|
|
CA759488 rs777641299 |
663 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756133769 CA759487 |
664 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234226123 CA339340152 |
666 | T>S | No |
ClinGen gnomAD |
|
|
CA339340138 rs1299575489 |
668 | T>I | No |
ClinGen gnomAD |
|
|
COSM464500 rs766966340 CA759485 |
673 | R>K | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA759483 rs751229477 |
677 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs41267249 CA759481 |
680 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339340054 rs1304146091 |
680 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs41267249 CA759480 |
680 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773581374 CA759479 |
681 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA759478 rs541700984 |
682 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1173936582 CA339340037 |
683 | V>A | No |
ClinGen gnomAD |
|
|
rs1478692445 CA339340034 |
684 | I>V | No |
ClinGen gnomAD |
|
|
CA759477 rs762342725 |
685 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA339340019 rs1192811026 |
686 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs78757559 CA20631576 |
689 | I>K | No |
ClinGen Ensembl |
|
|
rs758072640 CA759462 |
689 | I>M | No |
ClinGen ExAC |
|
|
rs76022655 CA20631567 |
690 | N>K | No |
ClinGen Ensembl |
|
|
rs1423345410 CA339339803 |
694 | I>V | No |
ClinGen gnomAD |
|
|
CA759460 rs374032312 |
697 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1180712196 CA339339756 |
699 | G>R | No |
ClinGen gnomAD |
|
|
CA339339737 rs1458437866 |
701 | V>M | No |
ClinGen gnomAD |
|
|
rs762146389 CA759459 |
702 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762146389 CA339339725 |
702 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197149082 CA339339700 |
705 | L>I | No |
ClinGen gnomAD |
|
|
rs1197149082 CA339339699 |
705 | L>V | No |
ClinGen gnomAD |
|
|
rs764655401 CA759457 |
707 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20631520 rs866922336 |
708 | S>G | No |
ClinGen Ensembl |
|
|
CA339339649 rs1339333765 |
710 | A>V | No |
ClinGen gnomAD |
|
|
CA339339628 rs1448511777 |
713 | D>G | No |
ClinGen gnomAD |
|
|
CA339339619 rs1377198071 |
714 | G>V | No |
ClinGen gnomAD |
|
|
rs1330352747 CA339339616 |
715 | S>A | No |
ClinGen gnomAD |
|
|
CA339339612 rs1462976451 |
716 | K>E | No |
ClinGen TOPMed |
|
|
CA339339592 rs1392734479 |
719 | D>H | No |
ClinGen gnomAD |
|
|
rs999989679 CA20631509 |
720 | D>N | No |
ClinGen Ensembl |
|
|
rs772229328 CA759454 |
721 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759453 rs746124708 |
722 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs769759234 CA759451 |
723 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA759452 rs774681784 |
723 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA339339557 rs1570639774 |
724 | V>D | No |
ClinGen Ensembl |
|
|
rs747971840 CA759450 |
725 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs780786421 CA759449 |
725 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339339545 rs1180045597 |
726 | Y>F | No |
ClinGen gnomAD |
|
|
rs754957502 CA759448 |
730 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA759447 rs746873124 |
730 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 731 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA759446 rs779649408 |
732 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1357995015 CA339339482 |
735 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 738 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353929384 CA339339466 |
738 | G>E | No |
ClinGen gnomAD |
|
|
CA339339422 rs1284850385 |
743 | H>N | No |
ClinGen TOPMed |
|
|
CA339339417 rs1299936461 |
743 | H>R | No |
ClinGen gnomAD |
|
|
rs779949079 CA759427 |
744 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA759426 rs147477734 |
746 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA759422 rs753380517 |
748 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA759423 rs756913731 |
748 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759424 rs756913731 |
748 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759420 rs756400694 |
749 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA339339363 rs1318399034 |
749 | I>T | No |
ClinGen TOPMed |
|
|
rs778228769 CA759421 |
749 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1426297965 CA339339358 |
750 | L>V | No |
ClinGen gnomAD |
|
|
CA339339292 rs1477819524 |
756 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA759419 rs527801691 |
757 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339339273 rs768123207 |
758 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs768123207 CA339339271 |
758 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA759418 rs768123207 |
758 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA20631131 rs958530661 |
760 | Y>C | No |
ClinGen gnomAD |
|
|
rs1321109303 CA339339244 |
761 | T>I | No |
ClinGen gnomAD |
|
|
rs369128938 CA759417 |
761 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs896374492 CA20631118 |
762 | F>L | No |
ClinGen TOPMed |
|
|
rs1178911135 CA339339211 |
765 | K>Q | No |
ClinGen TOPMed |
|
|
CA759415 rs375965267 |
768 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA759412 rs768546845 |
769 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs773278050 CA759413 |
769 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA759411 rs760379049 |
770 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA759410 rs775475906 |
771 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA759409 rs771997079 |
771 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1570637634 CA339339147 |
772 | E>K | No |
ClinGen Ensembl |
|
|
CA339339132 rs1558295260 |
773 | S>N | No |
ClinGen Ensembl |
|
|
rs11551037 CA20631048 |
774 | D>V | No |
ClinGen Ensembl |
|
|
rs745744875 CA759408 |
775 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA339339092 rs1377147743 |
776 | D>E | No |
ClinGen TOPMed |
|
|
CA759406 COSM680956 rs770305152 |
777 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000883464 CA759407 rs144204083 |
777 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA759405 rs749008043 |
778 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1237590429 CA339339067 |
779 | T>I | No |
ClinGen gnomAD |
|
|
rs756559400 CA759403 |
780 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs781642469 CA759401 |
783 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA759402 rs781642469 |
783 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA339338906 rs1368769327 |
786 | P>H | No |
ClinGen TOPMed |
|
|
CA339338904 rs1368769327 |
786 | P>L | No |
ClinGen TOPMed |
|
|
CA339338902 rs1328170816 |
787 | R>G | No |
ClinGen TOPMed |
|
|
CA759381 rs747570768 |
787 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs142124223 CA759380 |
788 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339338867 rs1437735179 |
790 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 793 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422235606 CA339338790 |
797 | D>N | No |
ClinGen gnomAD |
|
|
rs1415695854 CA339338777 |
798 | I>V | No |
ClinGen TOPMed |
|
|
rs757439687 CA20629985 |
799 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759376 rs757439687 |
799 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150251578 CA20629973 |
800 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA339338738 rs1412197173 |
801 | S>N | No |
ClinGen TOPMed |
|
|
CA20629961 rs1008172932 |
803 | L>R | No |
ClinGen TOPMed |
|
|
CA20629952 rs866437712 |
806 | R>G | No |
ClinGen Ensembl |
|
|
CA759374 rs767339061 |
809 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1488728923 CA339338657 |
810 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs867312012 CA20629946 |
811 | F>S | No |
ClinGen Ensembl |
|
|
rs1268136144 CA339338652 |
811 | F>V | No |
ClinGen gnomAD |
|
|
CA20629940 rs12729157 |
812 | I>T | No |
ClinGen Ensembl |
|
|
rs956608216 CA20629935 |
813 | R>C | No |
ClinGen TOPMed |
|
|
rs774329290 CA759372 |
813 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452635318 CA339338637 |
814 | Q>* | No |
ClinGen TOPMed |
|
|
rs148223068 CA759371 |
814 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286913886 CA339338626 |
815 | I>T | No |
ClinGen gnomAD |
|
|
rs1334583134 CA339338623 |
816 | G>R | No |
ClinGen TOPMed |
|
|
rs769309121 CA759369 |
817 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769309121 CA759368 |
817 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867138388 CA20629893 |
818 | L>F | No |
ClinGen Ensembl |
|
|
CA339338600 rs1315365046 |
820 | G>E | No |
ClinGen gnomAD |
|
|
CA339338567 rs1281903145 |
825 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA759365 rs776404576 COSM908693 |
825 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA759364 rs200635190 |
827 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339338555 rs1353364841 |
827 | I>T | No |
ClinGen gnomAD |
|
|
CA759363 rs200635190 |
827 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA20629878 rs965106962 |
828 | V>L | No |
ClinGen Ensembl |
|
|
rs1570631469 CA339338544 |
829 | Q>R | No |
ClinGen Ensembl |
|
|
CA339338534 rs1452536634 |
830 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA20629862 rs1000669136 |
831 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs780402859 CA759362 |
832 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs142007809 COSM1342143 CA759361 |
833 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA759359 rs778888195 |
835 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759358 rs147814828 |
836 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA20629857 VAR_042645 rs1361040 |
837 | Q>H | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs1484991115 CA339338485 |
838 | S>C | No |
ClinGen gnomAD |
|
|
rs1467237626 CA339338420 |
841 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs553155302 CA20627497 |
842 | V>L | No |
ClinGen gnomAD |
|
|
rs1570617728 CA339338389 |
843 | F>C | No |
ClinGen Ensembl |
|
|
rs758192624 CA759334 |
843 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 845 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868256159 CA20627480 |
845 | V>F | No |
ClinGen TOPMed |
|
|
rs868256159 CA339338372 |
845 | V>I | No |
ClinGen TOPMed |
|
|
rs750388192 CA759333 |
846 | Q>E | No |
ClinGen ExAC |
|
|
rs765264102 CA759332 |
848 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA20627452 rs148131828 |
850 | P>L | No |
ClinGen Ensembl |
|
|
rs1452836254 CA339338319 |
850 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339338318 rs1452836254 |
850 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339338301 rs1334401833 |
851 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs867700756 CA20627425 |
852 | Q>R | No |
ClinGen Ensembl |
|
|
rs907428814 CA20627408 |
854 | F>S | No |
ClinGen gnomAD |
|
|
rs1397002075 CA339338257 |
855 | K>E | No |
ClinGen gnomAD |
|
|
CA759330 rs753416410 |
857 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA759329 rs763644672 |
857 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA339338210 rs1197541921 |
859 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA759328 rs370971124 |
861 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1164315211 CA339338185 |
861 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA759325 rs759928836 |
862 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs772369259 CA759326 |
862 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1264720987 CA339338162 |
863 | L>P | No |
ClinGen gnomAD |
|
|
CA339338148 rs1194569222 |
864 | K>N | No |
ClinGen gnomAD |
|
|
CA759323 rs771430922 |
864 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1489761342 CA339338146 |
865 | S>R | No |
ClinGen gnomAD |
|
|
rs1194942798 CA339338135 |
865 | S>R | No |
ClinGen gnomAD |
|
|
rs758297310 CA759321 |
868 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA759322 COSM464498 rs749736814 |
868 | R>W | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA759320 rs769834330 |
876 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs930135268 CA20627292 |
879 | A>G | No |
ClinGen Ensembl |
|
|
CA339337991 rs1488267586 |
879 | A>T | No |
ClinGen gnomAD |
|
|
CA339337957 rs1392804878 |
882 | V>I | No |
ClinGen gnomAD |
|
|
rs1303799466 CA339337943 |
883 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs765000757 CA339337936 |
883 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs999082576 CA20627274 |
883 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339337930 rs1160651015 |
884 | T>A | No |
ClinGen gnomAD |
|
|
rs1207657357 CA339337923 |
884 | T>I | No |
ClinGen Ensembl |
|
|
rs1160651015 CA339337928 |
884 | T>S | No |
ClinGen gnomAD |
|
|
rs758196396 CA759317 |
886 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs768939254 CA759297 |
888 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA759295 rs778877216 |
893 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA759296 rs747154996 |
893 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222811864 CA339337720 |
896 | H>R | No |
ClinGen gnomAD |
|
|
rs1263603257 CA339337722 |
896 | H>Y | No |
ClinGen gnomAD |
|
|
CA339337709 rs1402450023 |
897 | C>Y | No |
ClinGen gnomAD |
|
|
CA759294 rs757083721 |
899 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339337650 rs1431599372 COSM3377148 |
903 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA759293 rs370622628 |
903 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755645264 CA759291 |
905 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1407279569 CA339337620 |
906 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 908 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468641070 CA339337582 |
910 | W>R | No |
ClinGen gnomAD |
|
|
CA339337524 rs1426451305 |
914 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 915 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339337497 rs1475443579 |
917 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339337500 rs1475443579 |
917 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs754682422 CA759288 |
920 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs146388394 CA20626433 |
920 | R>T | No |
ClinGen ESP |
|
|
rs751183160 CA759287 |
921 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1243454769 CA339337449 |
922 | G>E | No |
ClinGen gnomAD |
|
|
rs1570609899 CA339337023 |
927 | E>G | No |
ClinGen Ensembl |
|
|
CA339337015 rs1270886472 |
928 | W>* | No |
ClinGen gnomAD |
|
|
rs754424275 CA759271 |
929 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA20625976 rs905802098 |
930 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA339336979 rs1293627841 |
932 | Y>H | No |
ClinGen TOPMed |
|
|
rs1244113961 CA339336965 |
933 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1244113961 CA339336967 |
933 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA339336954 rs1570609778 |
934 | I>T | No |
ClinGen Ensembl |
|
|
CA339336948 rs1570609757 |
935 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 937 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558265635 CA339336926 |
937 | T>S | No |
ClinGen Ensembl |
|
|
CA759270 rs751271430 |
938 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA759268 rs149615848 |
940 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1425977381 CA339336879 |
942 | V>I | No |
ClinGen gnomAD |
|
|
rs750802771 CA759266 |
944 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA339336744 rs1443831256 |
955 | C>F | No |
ClinGen TOPMed |
|
|
CA759262 rs754264570 |
956 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1570609576 CA339336719 |
957 | R>K | No |
ClinGen Ensembl |
|
|
rs150125031 CA20625279 |
962 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA759241 rs150125031 |
962 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215382604 CA339336606 |
962 | P>S | No |
ClinGen gnomAD |
|
|
rs1240495771 CA339336601 |
963 | K>E | No |
ClinGen TOPMed |
|
|
rs774414365 CA759239 |
963 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA759237 rs761507231 |
964 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 965 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA20625225 rs992919413 |
968 | Y>C | No |
ClinGen Ensembl |
|
|
rs1289055557 CA339336517 |
969 | K>N | No |
ClinGen gnomAD |
|
|
CA759236 rs776419422 |
970 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1178343524 CA339336503 |
971 | L>M | No |
ClinGen gnomAD |
|
|
rs746897102 CA759234 |
974 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs982738131 CA20625152 |
975 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA759232 rs771535112 |
982 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA339336362 rs1390224897 |
984 | T>A | No |
ClinGen TOPMed |
|
|
rs1485023802 CA339336345 |
985 | S>F | No |
ClinGen gnomAD |
|
|
CA339336342 rs745588176 |
986 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs202079417 COSM908689 CA759230 |
986 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
| TCGA novel | 988 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA759206 rs755444281 |
989 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558681201 CA20620782 |
991 | Q>R | No |
ClinGen 1000Genomes |
|
|
rs1408921467 CA339335715 |
994 | L>V | No |
ClinGen gnomAD |
|
|
CA339335707 rs1417984506 |
995 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 999 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339335633 rs1184438407 |
1001 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1004 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481783229 CA339335567 |
1007 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs750623856 CA759201 |
1010 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA759199 rs760453527 |
1015 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759198 rs377631618 |
1016 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558240627 CA339335443 |
1018 | D>E | No |
ClinGen Ensembl |
|
|
CA339335448 rs1407995303 |
1018 | D>G | No |
ClinGen gnomAD |
|
|
CA20620759 rs1004702915 |
1019 | R>* | No |
ClinGen gnomAD |
|
|
rs767449634 CA759197 |
1019 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767449634 COSM1342140 CA339335437 |
1019 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA339335436 rs1424185070 |
1020 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1160610986 CA339335415 |
1021 | K>T | No |
ClinGen gnomAD |
|
|
CA759195 rs773758200 |
1022 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339335364 rs1270326783 |
1026 | H>R | No |
ClinGen gnomAD |
|
|
rs548927392 CA759191 |
1027 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA759192 rs548927392 |
1027 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1028 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770349013 CA759190 |
1030 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20620705 rs368457639 |
1033 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs769064246 CA759187 |
1035 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749829544 CA20620698 |
1036 | Q>* | No |
ClinGen Ensembl |
|
|
CA339335291 rs1370057470 |
1038 | P>A | No |
ClinGen TOPMed |
|
|
rs747507850 CA759186 |
1038 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1041 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200186246 CA759184 |
1042 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA759183 rs750698281 |
1043 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA759182 rs779108241 |
1044 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339335253 rs1329470667 |
1044 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs373199789 CA759180 |
1045 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373199789 CA759179 |
1045 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs759424858 CA759178 |
1047 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA339335234 rs1558239733 |
1047 | E>D | No |
ClinGen Ensembl |
|
|
CA339335239 rs1157398799 |
1047 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 1047 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1049 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751484493 CA759177 |
1050 | L>K | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8IZA0
7 regional properties for Q8IZA0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PKD domain | 523 - 592 | IPR000601 |
| domain | MANSC domain | 49 - 127 | IPR013980 |
| domain | PKD/Chitinase domain | 312 - 401 | IPR022409-1 |
| domain | PKD/Chitinase domain | 409 - 498 | IPR022409-2 |
| domain | PKD/Chitinase domain | 504 - 594 | IPR022409-3 |
| domain | PKD/Chitinase domain | 600 - 688 | IPR022409-4 |
| domain | PKD/Chitinase domain | 694 - 785 | IPR022409-5 |
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| neuron migration | The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5VV43 | KIAA0319 | Dyslexia-associated protein KIAA0319 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEKRLGVKPN | PASWILSGYY | WQTSAKWLRS | LYLFYTCFCF | SVLWLSTDAS | ESRCQQGKTQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FGVGLRSGGE | NHLWLLEGTP | SLQSCWAACC | QDSACHVFWW | LEGMCIQADC | SRPQSCRAFR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| THSSNSMLVF | LKKFQTADDL | GFLPEDDVPH | LLGLGWNWAS | WRQSPPRAAL | RPAVSSSDQQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SLIRKLQKRG | SPSDVVTPIV | TQHSKVNDSN | ELGGLTTSGS | AEVHKAITIS | SPLTTDLTAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LSGGPKNVSV | QPEISEGLAT | TPSTQQVKSS | EKTQIAVPQP | VAPSYSYATP | TPQASFQSTS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| APYPVIKELV | VSAGESVQIT | LPKNEVQLNA | YVLQEPPKGE | TYTYDWQLIT | HPRDYSGEME |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GKHSQILKLS | KLTPGLYEFK | VIVEGQNAHG | EGYVNVTVKP | EPRKNRPPIA | IVSPQFQEIS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LPTTSTVIDG | SQSTDDDKIV | QYHWEELKGP | LREEKISEDT | AILKLSKLVP | GNYTFSLTVV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DSDGATNSTT | ANLTVNKAVD | YPPVANAGPN | QVITLPQNSI | TLFGNQSTDD | HGITSYEWSL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SPSSKGKVVE | MQGVRTPTLQ | LSAMQEGDYT | YQLTVTDTIG | QQATAQVTVI | VQPENNKPPQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ADAGPDKELT | LPVDSTTLDG | SKSSDDQKII | SYLWEKTQGP | DGVQLENANS | SVATVTGLQV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GTYVFTLTVK | DERNLQSQSS | VNVIVKEEIN | KPPIAKITGN | VVITLPTSTA | ELDGSKSSDD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KGIVSYLWTR | DEGSPAAGEV | LNHSDHHPIL | FLSNLVEGTY | TFHLKVTDAK | GESDTDRTTV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EVKPDPRKNN | LVEIILDINV | SQLTERLKGM | FIRQIGVLLG | VLDSDIIVQK | IQPYTEQSTK |
| 850 | 860 | 870 | 880 | 890 | 900 |
| MVFFVQNEPP | HQIFKGHEVA | AMLKSELRKQ | KADFLIFRAL | EVNTVTCQLN | CSDHGHCDSF |
| 910 | 920 | 930 | 940 | 950 | 960 |
| TKRCICDPFW | MENFIKVQLR | DGDSNCEWSV | LYVIIATFVI | VVALGILSWT | VICCCKRQKG |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KPKRKSKYKI | LDATDQESLE | LKPTSRAGIK | QKGLLLSSSL | MHSESELDSD | DAIFTWPDRE |
| 1030 | 1040 | ||||
| KGKLLHGQNG | SVPNGQTPLK | ARSPREEIL |