Q8TAP6
PR
Gene name |
CEP76 (C18orf9) |
Protein name |
Centrosomal protein of 76 kDa |
Names |
Cep76 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79959 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8TAP6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TAP6-F1 | Predicted | AlphaFoldDB |
467 variants for Q8TAP6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1485933402 CA401964092 |
2 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1181694679 CA401964094 |
2 | S>P | No |
ClinGen gnomAD |
|
|
rs1485933402 CA401964091 |
2 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA296710979 rs369087827 |
4 | P>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs369087827 CA401964073 |
4 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1282407289 CA401964069 |
5 | P>A | No |
ClinGen gnomAD |
|
|
rs947583092 CA296710978 |
6 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs747446686 CA8898223 |
6 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8898221 rs143636476 |
8 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA296710960 rs377638925 |
9 | S>F | No |
ClinGen Ensembl |
|
|
CA401963978 COSM417888 rs1294843737 |
13 | Q>* | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA401963975 rs1350983525 |
13 | Q>H | No |
ClinGen gnomAD |
|
|
CA401963983 rs1294843737 |
13 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs991612156 CA296710956 |
13 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA296710955 rs1027829846 |
16 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1027829846 CA401963959 |
16 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs754604227 CA8898216 |
17 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs993716068 CA401963948 |
17 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA401963935 rs1334933664 |
19 | L>P | No |
ClinGen TOPMed |
|
|
CA401963933 rs1233895072 |
20 | S>G | No |
ClinGen TOPMed |
|
|
rs937735448 CA296710948 |
20 | S>N | No |
ClinGen gnomAD |
|
|
CA8898215 rs766389457 |
21 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs767476856 CA8898192 |
22 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8898191 rs566284671 |
23 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8898190 rs751320382 |
24 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA401963882 rs1298646183 |
25 | H>L | No |
ClinGen gnomAD |
|
|
rs1298646183 CA401963883 |
25 | H>R | No |
ClinGen gnomAD |
|
|
CA8898188 rs759703161 |
26 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA401963874 rs1272537250 |
27 | R>G | No |
ClinGen TOPMed |
|
|
CA401963868 rs1366546092 |
27 | R>S | No |
ClinGen TOPMed |
|
|
CA401963867 rs1214780685 |
28 | I>V | No |
ClinGen TOPMed |
|
|
COSM279841 rs1399814388 CA401963851 |
30 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1279871580 CA401963835 |
32 | L>R | No |
ClinGen TOPMed |
|
|
rs766315020 CA8898186 |
33 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8898185 rs760800287 |
35 | T>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000736207 rs773662461 CA8898184 |
36 | I>M | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA401963813 rs1377133147 |
36 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs137960067 CA8898183 |
37 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748572306 CA8898182 |
42 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs978101237 CA296709833 |
43 | D>E | No |
ClinGen TOPMed |
|
|
CA8898181 rs774810193 |
44 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258065223 CA401963754 |
45 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA401963733 rs1246190676 |
48 | S>A | No |
ClinGen TOPMed |
|
|
CA8898179 rs551481828 |
49 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA296709812 rs1054317259 |
50 | E>K | No |
ClinGen Ensembl |
|
|
rs1260644709 CA401963713 |
51 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8898176 rs755637311 |
53 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279413553 CA401963687 |
54 | K>R | No |
ClinGen gnomAD |
|
|
CA401963667 rs1325018110 |
56 | L>F | No |
ClinGen gnomAD |
|
|
CA401963651 rs1568035540 |
57 | R>T | No |
ClinGen Ensembl |
|
|
rs927393995 CA296709807 |
58 | R>C | No |
ClinGen gnomAD |
|
|
CA8898173 rs757160837 |
58 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401963636 rs757160837 |
58 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401783764 CA401963633 |
59 | R>* | No |
ClinGen gnomAD |
|
| TCGA novel | 59 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8898172 rs751375494 |
60 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs750879629 CA296709795 |
61 | I>V | No |
ClinGen gnomAD |
|
|
CA8898171 rs763833993 |
62 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1474407270 CA401963580 |
64 | D>N | No |
ClinGen gnomAD |
|
|
CA296709790 rs868048537 |
65 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 67 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8898170 rs755209478 |
67 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA401963507 rs1321075351 |
68 | E>G | No |
ClinGen TOPMed |
|
|
rs1568035425 CA401963493 |
69 | L>F | No |
ClinGen Ensembl |
|
|
CA401963457 rs1185806164 |
72 | V>I | No |
ClinGen gnomAD |
|
|
rs1431019213 CA401963437 |
73 | T>I | No |
ClinGen TOPMed |
|
|
rs758260642 CA8898144 |
74 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758260642 CA401962957 |
74 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752510161 CA8898143 |
75 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766559049 CA401962939 |
75 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs766559049 CA8898142 |
75 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA401962904 rs1332707083 |
78 | Q>E | No |
ClinGen gnomAD |
|
|
CA8898141 rs756310406 |
79 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1404303228 CA401962881 |
80 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs774450068 CA8898140 |
81 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8898139 rs562451191 |
82 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA296709086 rs960105683 |
84 | P>S | No |
ClinGen gnomAD |
|
|
rs762421448 CA8898138 |
88 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1400429023 CA401962815 |
88 | I>V | No |
ClinGen TOPMed |
|
|
rs1156259925 CA401962787 |
91 | D>V | No |
ClinGen gnomAD |
|
|
CA8898136 rs544249290 |
94 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8898135 rs544249290 |
94 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775897465 CA8898134 |
96 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA401962719 rs751659357 |
99 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs747064410 | 99 | T>L | Variant assessed as Somatic; 0.0001565 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 99 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8898115 rs751659357 |
99 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401962716 rs1341566439 |
100 | N>Y | No |
ClinGen TOPMed |
|
|
rs763465512 CA8898113 |
101 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531016258 CA8898112 |
102 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8898110 rs759808698 |
105 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765568214 CA8898111 |
105 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776335158 CA8898109 |
109 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 109 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401962623 rs1449747590 |
114 | G>A | No |
ClinGen gnomAD |
|
|
CA401962611 rs1335445963 |
116 | K>R | No |
ClinGen gnomAD |
|
|
rs772660362 CA8898106 |
117 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401962607 rs772660362 |
117 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 126 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8898104 rs748053396 |
126 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8898103 rs778587694 |
128 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8898102 rs146962937 |
129 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401962503 rs1473858912 |
130 | G>R | No |
ClinGen gnomAD |
|
|
rs1238297240 CA401962492 |
131 | Q>* | No |
ClinGen gnomAD |
|
|
rs199598581 CA296708653 |
133 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA401962467 rs1383388503 |
133 | C>G | No |
ClinGen TOPMed |
|
|
rs199598581 CA8898101 |
133 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA401962449 rs1307681691 |
135 | T>A | No |
ClinGen TOPMed |
|
|
CA8898100 rs781605558 |
135 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA296708625 rs1042789640 |
136 | F>L | No |
ClinGen Ensembl |
|
|
CA8898098 rs751708461 |
137 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA296708611 rs1051225425 |
139 | C>S | No |
ClinGen TOPMed |
|
| TCGA novel | 140 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401962387 rs1271704769 |
141 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA296708609 rs933115480 |
141 | H>Y | No |
ClinGen TOPMed |
|
|
CA296708597 rs901680258 |
142 | Y>C | No |
ClinGen TOPMed |
|
|
rs753187002 CA8898093 |
143 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA8898092 rs202117013 COSM986657 |
143 | R>Q | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs528967798 CA401962346 |
145 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401962341 rs1331514489 |
146 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs754183790 CA8898090 COSM3403437 |
148 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs766046312 CA8898089 COSM1200837 |
148 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs760281527 CA8898088 |
151 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA401962289 rs760012314 |
152 | V>F | No |
ClinGen TOPMed |
|
|
CA296708555 rs760012314 |
152 | V>L | No |
ClinGen TOPMed |
|
|
rs772713539 CA401962285 |
153 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8898087 rs772713539 |
153 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA8898086 rs766996601 |
156 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA401962231 rs1598665783 |
160 | F>L | No |
ClinGen Ensembl |
|
|
rs1183189047 CA401962229 |
161 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1443082666 CA401962217 |
162 | D>G | No |
ClinGen gnomAD |
|
|
rs761217041 CA8898085 |
165 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8898084 rs774411430 |
166 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1231129169 CA401962177 |
168 | V>I | No |
ClinGen gnomAD |
|
|
rs1298388190 CA401962168 |
169 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs79615555 CA8898082 |
172 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401962142 rs1241378434 |
172 | S>R | No |
ClinGen TOPMed |
|
|
rs1359343187 CA401962140 |
173 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs764113871 CA8898065 |
177 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401961935 rs764113871 |
177 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA296707441 rs113198189 |
179 | M>I | No |
ClinGen Ensembl |
|
|
CA296707446 rs946761094 COSM437917 |
179 | M>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA401961910 rs1314577108 |
180 | A>S | No |
ClinGen gnomAD |
|
|
rs762940274 CA8898064 |
180 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs769651931 CA8898062 |
181 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1346710907 CA401961903 |
181 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1346710907 CA401961900 |
181 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1598662264 CA401961883 |
182 | S>* | No |
ClinGen Ensembl |
|
|
rs1403516009 CA401961858 |
184 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1568032062 CA401961846 |
185 | M>I | No |
ClinGen Ensembl |
|
|
rs552145580 CA401961852 |
185 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs552145580 CA8898061 |
185 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401961836 rs1194467663 |
187 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs376519883 CA296707425 |
188 | I>R | No |
ClinGen Ensembl |
|
|
rs1055160676 CA296707428 |
188 | I>V | No |
ClinGen gnomAD |
|
|
CA296707423 rs796865828 |
189 | S>G | No |
ClinGen Ensembl |
|
|
rs1453403298 CA401961813 |
190 | D>H | No |
ClinGen gnomAD |
|
|
rs35721431 CA401961793 |
192 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8898059 rs35721431 |
192 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772165041 CA8898058 |
194 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA296707401 rs775458030 |
194 | M>T | No |
ClinGen Ensembl |
|
|
CA8898057 rs201817627 |
197 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778822765 CA8898056 |
199 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 200 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262213404 CA401961723 |
201 | I>T | No |
ClinGen gnomAD |
|
|
rs780527774 CA8898053 |
202 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8898051 rs750720039 |
203 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8898052 rs74943012 |
203 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401961683 rs1203758039 |
205 | T>K | No |
ClinGen gnomAD |
|
|
rs1203758039 CA401961679 |
205 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 215 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8898049 rs756810771 |
216 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA8898048 rs751112066 |
216 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8898046 rs762993284 |
217 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765259658 CA8898044 |
218 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8898043 rs759456241 |
221 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8898042 rs776243918 |
221 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA296707283 rs984234502 |
224 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA296707279 rs370855283 |
225 | V>M | No |
ClinGen ESP TOPMed |
|
|
CA401961470 rs1293588876 |
226 | T>I | No |
ClinGen TOPMed |
|
|
CA401961467 rs1257870838 |
227 | S>G | No |
ClinGen gnomAD |
|
|
CA8898041 rs772374234 |
227 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1460461870 CA401961437 |
229 | T>S | No |
ClinGen gnomAD |
|
|
CA296707275 rs951825837 |
230 | V>L | No |
ClinGen Ensembl |
|
|
CA401961399 rs1260778957 |
232 | L>I | No |
ClinGen gnomAD |
|
|
rs375925229 CA8898040 |
233 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs559555963 CA8898039 |
234 | G>S | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 235 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342108406 CA401961361 |
235 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 238 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248866127 CA401960749 |
239 | S>* | No |
ClinGen TOPMed |
|
|
CA401960734 rs1383038371 |
241 | V>I | No |
ClinGen gnomAD |
|
|
rs1159885477 CA401960710 |
243 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1271421232 CA401960658 |
248 | I>M | No |
ClinGen gnomAD |
|
|
CA401960663 rs1436633389 |
248 | I>V | No |
ClinGen gnomAD |
|
|
CA296703258 rs894217732 |
249 | K>Q | No |
ClinGen TOPMed |
|
|
CA296703254 rs964404804 |
250 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA296703252 rs528331474 |
252 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8898013 rs770316632 |
252 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401960617 rs1225734730 |
254 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 254 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279098366 CA401960616 |
255 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA296703235 rs1055962293 |
256 | L>F | No |
ClinGen TOPMed |
|
|
CA8898011 rs781627547 |
257 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568029983 CA401960597 COSM563209 |
258 | Q>E | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs771255279 CA8898010 |
259 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245484496 CA401960590 |
259 | T>P | No |
ClinGen TOPMed |
|
|
rs771255279 CA296703218 |
259 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420039857 CA401960557 |
264 | V>I | No |
ClinGen gnomAD |
|
|
CA401960538 rs1203774965 |
266 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 268 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568026192 CA401960375 |
269 | L>F | No |
ClinGen Ensembl |
|
|
CA8897981 rs771855560 |
272 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA401960349 rs1439661295 |
273 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs564175699 CA8897980 |
273 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401960334 rs1179795087 |
275 | K>R | No |
ClinGen TOPMed |
|
|
rs545985521 CA8897979 |
276 | T>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs1363277144 CA401960323 |
277 | A>S | No |
ClinGen TOPMed |
|
|
COSM177197 CA8897976 rs202106348 |
281 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8897975 rs376057390 |
281 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1410860197 CA401960290 |
282 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1166948073 CA401960271 |
285 | V>I | No |
ClinGen gnomAD |
|
|
rs1166948073 CA401960269 |
285 | V>L | No |
ClinGen gnomAD |
|
|
rs999633931 CA296700827 |
291 | W>* | No |
ClinGen Ensembl |
|
|
CA8897973 rs767228896 |
292 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 293 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401960180 rs1390138758 |
297 | I>V | No |
ClinGen TOPMed |
|
|
rs1459891486 CA401960173 |
298 | R>* | No |
ClinGen gnomAD |
|
|
CA401960172 rs1234552291 |
298 | R>Q | No |
ClinGen gnomAD |
|
|
rs758628222 CA8897972 |
299 | P>T | No |
ClinGen ExAC |
|
|
CA401960156 rs1326339897 |
301 | H>Y | No |
ClinGen TOPMed |
|
|
CA8897970 rs765492139 |
302 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA296700819 rs763088150 |
303 | S>L | No |
ClinGen Ensembl |
|
|
CA8897968 rs776748119 |
304 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA401960136 rs1243169619 |
304 | R>Q | No |
ClinGen gnomAD |
|
|
rs1334655614 CA401960132 |
305 | L>Q | No |
ClinGen TOPMed |
|
|
rs1443651689 CA401960096 |
310 | A>G | No |
ClinGen gnomAD |
|
|
CA8897923 rs774873122 |
312 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA401959558 rs1355325702 |
316 | I>V | No |
ClinGen TOPMed |
|
|
rs892916620 CA296697049 |
317 | N>D | No |
ClinGen Ensembl |
|
|
rs1231560051 CA401959527 |
320 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA401959530 rs1255730374 |
320 | V>L | No |
ClinGen gnomAD |
|
|
CA8897919 rs770831877 |
321 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770831877 CA401959521 |
321 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212899944 CA401959514 |
322 | S>C | No |
ClinGen TOPMed |
|
|
rs1253953357 CA401959509 |
323 | Y>C | No |
ClinGen TOPMed |
|
|
CA296697030 rs1055451188 |
328 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA296697036 rs1055451188 |
328 | R>G | No |
ClinGen gnomAD |
|
|
rs139290213 CA8897918 |
328 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000736208 rs146808596 CA8897917 |
329 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8897916 rs755171008 |
331 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA296697007 rs181866298 |
331 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA401959462 rs1158477330 |
332 | L>I | No |
ClinGen TOPMed |
|
|
CA296697002 rs940618359 |
333 | L>F | No |
ClinGen Ensembl |
|
|
CA401959440 rs780749310 |
335 | T>N | No |
ClinGen TOPMed |
|
|
CA296696999 rs780749310 |
335 | T>S | No |
ClinGen TOPMed |
|
|
rs754147850 CA401959438 |
336 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8897915 rs754147850 |
336 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780135542 CA8897914 |
337 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs149803365 CA8897913 |
344 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1373470777 CA401959376 |
345 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA401959371 rs1169303587 |
346 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA401959362 rs1447344612 |
347 | G>A | No |
ClinGen gnomAD |
|
|
rs750511849 CA8897912 |
348 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs951842549 CA296696991 |
350 | R>* | No |
ClinGen gnomAD |
|
|
rs1598638123 CA401959343 |
350 | R>Q | No |
ClinGen Ensembl |
|
|
CA401959331 rs1378729407 |
352 | P>L | No |
ClinGen TOPMed |
|
| rs747411650 | 352 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256042478 CA401959336 |
352 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1237479781 CA401959330 |
353 | V>I | No |
ClinGen TOPMed |
|
|
rs1348368920 CA401959311 |
356 | G>R | No |
ClinGen TOPMed |
|
|
CA8897911 rs768163736 |
357 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8897910 rs762367925 |
360 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs751872031 CA8897909 |
364 | C>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 364 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA296696970 rs770036587 |
365 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs764457288 CA8897908 |
367 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA401959210 rs1246828746 |
371 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA401959187 rs1382186981 |
374 | K>T | No |
ClinGen gnomAD |
|
|
rs981530115 CA296693633 |
375 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8897891 rs770269065 |
377 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159797330 CA401959135 |
379 | D>G | No |
ClinGen gnomAD |
|
|
rs528700233 CA296693628 |
379 | D>N | No |
ClinGen Ensembl |
|
|
rs1471417049 CA401959131 |
380 | H>D | No |
ClinGen gnomAD |
|
|
rs968196006 CA296693627 |
381 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA401959112 rs1471799094 |
382 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1271593028 CA401959109 |
383 | L>F | No |
ClinGen gnomAD |
|
|
rs1022506656 CA296693614 |
386 | S>R | No |
ClinGen TOPMed |
|
|
rs1451267412 CA401959088 |
386 | S>T | No |
ClinGen gnomAD |
|
|
rs1287735258 CA401959071 |
389 | L>F | No |
ClinGen gnomAD |
|
|
rs764500466 CA8897887 |
391 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA8897886 rs758837508 |
395 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769810501 CA296693585 |
398 | C>S | No |
ClinGen Ensembl |
|
|
CA401959004 rs1328347368 |
399 | V>F | No |
ClinGen gnomAD |
|
|
rs868801486 CA296693560 CA401958982 |
402 | K>N | No |
ClinGen TOPMed |
|
|
CA8897882 rs759147245 |
407 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA8897881 rs374605689 |
409 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 411 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8897880 rs765933710 |
412 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1383672002 CA401958921 |
412 | M>V | No |
ClinGen gnomAD |
|
|
CA401958908 rs1456171271 |
414 | C>R | No |
ClinGen gnomAD |
|
|
rs1431832605 CA401958896 |
415 | G>A | No |
ClinGen gnomAD |
|
|
rs563059756 CA401958881 |
417 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034995533 CA296693508 |
420 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA296693513 rs1014972730 |
420 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 421 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447649768 CA401958853 |
422 | F>S | No |
ClinGen gnomAD |
|
|
rs774250369 CA8897875 |
428 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA8897876 rs748000359 |
428 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA401958804 rs1263479970 |
429 | H>R | No |
ClinGen gnomAD |
|
|
rs770142481 CA8897874 |
429 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA401958751 rs1598622188 |
434 | K>N | No |
ClinGen Ensembl |
|
|
rs774297640 CA8897840 |
436 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401958734 rs1598622172 |
437 | N>S | No |
ClinGen Ensembl |
|
|
CA8897839 rs768627406 COSM229590 |
438 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8897837 rs759114067 |
441 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA296692027 rs759114067 |
441 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs747134192 CA8897835 |
442 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs771036468 CA8897836 |
442 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA8897834 rs777672974 |
443 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs997130485 CA296692022 |
444 | A>G | No |
ClinGen TOPMed |
|
|
rs199846298 CA8897832 |
445 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401958660 rs1414714103 |
449 | P>A | No |
ClinGen gnomAD |
|
|
CA401958652 rs1181197707 |
450 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8897830 rs755375295 |
452 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs754179948 COSM986652 CA8897829 |
454 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772924378 CA296691999 |
456 | I>T | No |
ClinGen Ensembl |
|
|
CA401958583 rs1598622045 |
461 | N>T | No |
ClinGen Ensembl |
|
|
rs370679694 CA8897827 |
462 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs958174060 CA296691997 |
463 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 465 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311404451 CA401958534 |
468 | N>Y | No |
ClinGen gnomAD |
|
|
CA296691976 rs570655668 |
471 | P>L | No |
ClinGen Ensembl |
|
|
CA296691979 rs776340224 |
471 | P>S | No |
ClinGen TOPMed |
|
|
rs766318200 CA296691963 |
473 | D>G | No |
ClinGen Ensembl |
|
|
CA401958502 rs1255727891 |
473 | D>N | No |
ClinGen TOPMed |
|
|
CA401958492 rs1410799845 |
474 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA296691944 rs1024942795 |
475 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 475 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764088609 CA8897821 |
476 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1289057709 CA401958483 |
476 | E>Q | No |
ClinGen gnomAD |
|
|
CA401958463 rs1350487083 |
479 | V>I | No |
ClinGen gnomAD |
|
|
CA401958426 rs1410101010 |
484 | D>N | No |
ClinGen gnomAD |
|
|
CA401958399 rs1456066089 |
487 | K>R | No |
ClinGen TOPMed |
|
|
CA401958375 rs1425459122 |
490 | P>L | No |
ClinGen TOPMed |
|
|
CA8897818 rs771214847 |
491 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs998906335 CA296691909 |
492 | S>N | No |
ClinGen TOPMed |
|
|
rs1428274796 CA401958349 |
494 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM3672648 CA296691870 rs903278909 |
496 | I>V | prostate Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 497 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8897816 rs773472463 |
498 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA8897815 rs151031205 |
501 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8897814 COSM437916 rs200920017 |
502 | P>S | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC |
|
CA296691862 rs1013817335 |
505 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs896346924 CA296691850 |
505 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1013817335 CA401958233 |
505 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA401958227 rs896346924 |
505 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1305904089 CA401958188 |
508 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8897810 rs370376860 |
511 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377176858 CA8897809 |
512 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8897808 rs755808154 |
513 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 514 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401958110 rs937966871 |
515 | C>G | No |
ClinGen TOPMed |
|
|
rs937966871 CA296691806 |
515 | C>R | No |
ClinGen TOPMed |
|
|
CA8897804 rs756863527 |
516 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA401958090 rs1409403937 |
516 | A>V | No |
ClinGen gnomAD |
|
|
rs751088597 CA8897803 |
517 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA401958057 rs1266200543 |
519 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8897802 rs764149719 |
519 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA401958027 rs764882115 |
521 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752539145 CA8897800 |
521 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8897799 rs764882115 |
521 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401958005 rs1266585602 |
523 | V>A | No |
ClinGen gnomAD |
|
|
CA8897797 rs370425822 |
528 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1217758576 CA401957926 |
530 | M>I | No |
ClinGen gnomAD |
|
|
rs767757265 CA8897796 |
530 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8897794 rs761904667 |
532 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs142832499 CA8897793 |
534 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769159491 CA401957899 |
535 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA401957893 rs1351631133 |
536 | V>M | No |
ClinGen TOPMed |
|
|
rs1434655129 CA401957878 |
538 | E>G | No |
ClinGen TOPMed |
|
|
rs1466331337 CA401957874 |
539 | H>Y | No |
ClinGen gnomAD |
|
|
rs1405874594 CA401957815 |
545 | L>F | No |
ClinGen TOPMed |
|
|
rs1429364223 CA401957799 |
548 | V>I | No |
ClinGen Ensembl |
|
|
rs770309334 CA8897770 |
550 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs746237395 CA8897769 |
551 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA401957751 rs1435784195 |
554 | S>F | No |
ClinGen TOPMed |
|
|
rs1298646553 CA401957746 |
555 | Y>C | No |
ClinGen TOPMed |
|
|
CA401957741 rs1245343486 |
556 | L>V | No |
ClinGen gnomAD |
|
|
rs996519792 CA296690305 |
557 | L>S | No |
ClinGen Ensembl |
|
|
rs1339841446 CA401957719 |
559 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1226665606 CA401957722 |
559 | P>S | No |
ClinGen TOPMed |
|
|
rs1350927061 CA401957667 |
567 | E>* | No |
ClinGen gnomAD |
|
|
rs1212120613 CA401957659 |
568 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8897767 rs143598035 |
568 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8897766 rs199817919 |
569 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401957651 rs1192422309 |
570 | T>A | No |
ClinGen TOPMed |
|
|
rs1458821148 CA401957633 |
572 | I>K | No |
ClinGen gnomAD |
|
|
CA8897765 rs538668730 |
572 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401957620 rs1450885859 |
574 | A>V | No |
ClinGen TOPMed |
|
|
rs758024041 CA8897764 |
576 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1389283311 CA8897761 |
576 | N>K | No |
ClinGen TOPMed |
|
|
CA8897763 rs373646506 |
576 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867039327 CA296690288 |
582 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 583 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8897760 rs778738967 |
583 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1181652567 CA401957527 |
588 | P>H | No |
ClinGen gnomAD |
|
|
CA401957505 rs1482201584 |
591 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA401957474 rs1292070390 |
596 | F>L | No |
ClinGen gnomAD |
|
|
rs753583590 CA8897758 |
598 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8897759 rs753583590 |
598 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230224495 CA401957436 |
599 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8897756 rs779771201 |
599 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1321233500 CA401957418 |
600 | F>S | No |
ClinGen TOPMed |
|
|
CA401957411 rs1329590879 |
601 | V>M | No |
ClinGen gnomAD |
|
|
CA401957389 rs1287506719 |
602 | Y>F | No |
ClinGen gnomAD |
|
|
rs1332482694 CA401957366 |
604 | N>H | No |
ClinGen gnomAD |
|
|
CA401957346 rs147413628 |
605 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147413628 CA8897754 |
605 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1387808 rs369287281 CA8897753 |
607 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA296690263 rs891583627 |
607 | R>H | No |
ClinGen TOPMed |
|
|
CA401957318 rs1161958816 |
608 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 610 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8897750 rs765693566 |
612 | C>R | No |
ClinGen ExAC |
|
|
CA401957257 rs1568009822 |
612 | C>S | No |
ClinGen Ensembl |
|
|
CA401957247 rs1568009804 |
613 | L>V | No |
ClinGen Ensembl |
|
|
rs760020378 CA8897746 |
614 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777148740 CA8897745 |
614 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs777148740 CA401957235 |
614 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765300466 CA8897726 |
616 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759520853 CA8897725 |
616 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279078975 CA401956931 |
618 | C>G | No |
ClinGen gnomAD |
|
|
rs368863361 CA401956899 |
622 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368863361 CA8897723 |
622 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1228470079 CA401956876 |
625 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1363884891 RCV000736206 CA401956874 |
625 | R>H | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1429314920 CA401956858 |
628 | Q>E | No |
ClinGen gnomAD |
|
|
rs1389110360 CA401956854 |
628 | Q>R | No |
ClinGen TOPMed |
|
|
CA8897720 rs771629415 |
629 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401956844 rs1335282149 |
630 | R>* | Variant assessed as Somatic; 4.735e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA296689756 rs374138097 |
630 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8897719 rs374138097 |
630 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401956832 rs1373845013 |
632 | A>V | No |
ClinGen gnomAD |
|
|
CA296689754 rs1018596817 |
634 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1389688569 CA401956823 |
634 | R>H | No |
ClinGen gnomAD |
|
|
CA401956814 rs768282968 |
636 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8897717 rs768282968 |
636 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401956813 rs1237794359 |
636 | R>Q | No |
ClinGen gnomAD |
|
|
rs1186610553 CA401956809 |
637 | V>L | No |
ClinGen gnomAD |
|
|
CA401956795 rs1568008600 |
639 | T>A | No |
ClinGen Ensembl |
|
|
CA296689746 rs1046871 |
639 | T>I | No |
ClinGen Ensembl |
|
|
rs748769259 CA8897716 |
643 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1276301468 CA401956759 |
644 | A>V | No |
ClinGen gnomAD |
|
|
rs532240201 CA8897713 |
645 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8897715 rs780012350 |
645 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA8897714 rs532240201 |
645 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs532240201 CA401956756 |
645 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs953052775 CA296689735 |
646 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8897712 rs780897774 |
649 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA401956717 rs1252941027 |
651 | F>L | No |
ClinGen TOPMed |
|
|
CA8897711 rs758560703 |
654 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8897710 rs375361062 |
656 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766489388 CA8897709 |
656 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1310070269 CA401956672 |
657 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA401956671 rs1192227693 |
658 | V>I | No |
ClinGen TOPMed |
|
|
rs753920792 CA8897707 |
660 | L>Y | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8TAP6
1 regional properties for Q8TAP6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CEP76, C2 domain | 100 - 257 | IPR028926 |
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| centriole | A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| regulation of centriole replication | Any process that modulates the frequency, rate or extent of the formation of a daughter centriole of an existing centriole. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0VEJ0 | Cep76 | Centrosomal protein of 76 kDa | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSLPPEKASE | LKQLIHQQLS | KMDVHGRIRE | ILAETIREEL | APDQQHLSTE | DLIKALRRRG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IIDDVMKELN | FVTDSVEQEL | PSSPKQPICF | DRQSTLKKTN | IDPTRRYLYL | QVLGGKAFLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HLQEPEPLPG | QVCSTFTLCL | HYRNQRFRSK | PVPCACEPDF | HDGFLLEVHR | ESLGDGTRMA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DSTTMLSISD | PIHMVLIKTD | IFGETTLVAS | YFLEWRSVLG | SENGVTSLTV | ELMGVGTESK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VSVGILNIKL | EMYPPLNQTL | SQEVVNTQLA | LERQKTAEKE | RLFLVYAKQW | WREYLQIRPS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HNSRLVKIFA | QDENGINRPV | CSYVKPLRAG | RLLDTPRQAA | RFVNVLGYER | APVIGGGGKQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EQWCTLLAFL | CRNKGDCEDH | ANLLCSLLLG | YGLEAFVCVG | TKAKGVPHAW | VMTCGTDGAI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TFWESLTGHR | YIHKPTNPDE | PPVAEQPKPL | YPYRTIGCVF | NHQMFLGNCQ | PSDAVETCVF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DLNDESKWKP | MSEEAIKSVC | APGATTSLPP | FPPLCASTID | ASVTSNEIEM | QLRLLVSEHR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KDLGLTTVWE | DQLSYLLSPA | LASYEFERTT | SISAGNEEFQ | DAIRRAVPDG | HTFKGFPIHF |
| 610 | 620 | 630 | 640 | 650 | |
| VYRNARRAFA | TCLRSPFCEE | IICCRGDQVR | LAVRVRVFTY | PESACAVWIM | FACKYRSVL |