Q8N271
PR
Gene name |
PROM2 (PROML2, UNQ2521/PRO6014) |
Protein name |
Prominin-2 |
Names |
PROM-2, Prominin-like protein 2, hPROML2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:150696 |
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 Q8N271
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N271-F1 | Predicted | AlphaFoldDB |
744 variants for Q8N271
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs372704871 CA1770948 |
3 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347616627 rs1413717742 |
6 | A>P | No |
ClinGen gnomAD |
|
|
CA347616630 rs1413717742 |
6 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 7 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462494395 CA347616690 |
10 | P>L | No |
ClinGen gnomAD |
|
|
rs1462494395 CA347616689 |
10 | P>R | No |
ClinGen gnomAD |
|
|
CA1770950 rs780019579 |
10 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235852963 CA347616735 |
14 | L>P | No |
ClinGen TOPMed |
|
|
rs753614340 CA1770952 |
15 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs754832104 CA1770953 |
16 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA1770954 rs778799460 |
17 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs747245761 CA1770955 |
19 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1443172666 CA347616795 |
19 | A>V | No |
ClinGen TOPMed |
|
|
rs781486966 CA1770957 |
26 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA347616892 rs1207149350 |
27 | A>V | No |
ClinGen TOPMed |
|
|
rs1195902616 CA347616909 |
29 | D>G | No |
ClinGen gnomAD |
|
|
rs745943879 CA1770958 |
32 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA1770959 rs770249622 |
35 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1186255611 CA347616975 |
35 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1770962 rs769024446 |
38 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA1770963 rs774635026 |
42 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1344849581 CA347617099 |
43 | P>Q | No |
ClinGen Ensembl |
|
|
CA1770964 rs530271538 |
44 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA51635695 rs879491950 |
45 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs546884538 CA1770965 |
45 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1413239465 CA347617127 |
46 | R>G | No |
ClinGen gnomAD |
|
|
CA347617133 rs1285489983 |
46 | R>T | No |
ClinGen TOPMed |
|
|
rs1312032825 CA347617153 |
47 | A>V | No |
ClinGen gnomAD |
|
|
rs760200490 CA1770967 |
48 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760200490 COSM1222136 CA1770968 |
48 | R>Q | large_intestine urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs138718796 CA1770966 |
48 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753833989 CA1770969 |
51 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1770971 rs765125055 |
52 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA347617228 rs1276201019 |
53 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752533853 CA1770972 |
53 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757607037 CA1770973 |
55 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs146674837 CA1770974 |
55 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765762536 CA1770976 |
56 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA51635795 rs765762536 |
56 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA347617283 rs1473172248 |
57 | P>R | No |
ClinGen TOPMed |
|
|
rs1392166052 CA347617300 |
58 | G>V | No |
ClinGen gnomAD |
|
|
CA347617309 rs1432956945 |
59 | L>P | No |
ClinGen gnomAD |
|
|
rs769148897 CA1770979 |
61 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA347617356 rs1286948920 |
62 | S>F | No |
ClinGen gnomAD |
|
|
rs774757628 CA1770980 |
63 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347617382 rs748491200 |
64 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1770981 rs748491200 |
64 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377370048 CA1770982 |
65 | G>R | No |
ClinGen ESP ExAC |
|
|
rs775936462 CA1770986 |
67 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1770985 rs752763995 |
67 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs370988812 CA1770987 |
68 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765249855 CA1770988 |
68 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1770989 rs571240281 |
69 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1770990 rs758232721 |
69 | R>H | Variant assessed as Somatic; 0.0001002 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763937191 CA1770991 |
70 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1250449262 CA347617442 COSM3933717 |
70 | F>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA347617459 rs375545886 |
72 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375545886 CA1770992 COSM3933718 |
72 | S>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs780249714 CA1770994 |
73 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1770995 rs550658106 |
74 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755529989 CA347617486 |
75 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs755529989 CA1770996 |
75 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA347617496 rs1322418656 |
76 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA347617518 rs1449932319 |
78 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs567457297 CA1770997 |
78 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1771015 rs753214127 |
83 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs146831198 CA1771016 |
84 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347617618 rs1202554660 |
86 | A>T | No |
ClinGen gnomAD |
|
|
CA347617638 rs1573442904 |
89 | N>S | No |
ClinGen Ensembl |
|
|
CA51636275 rs1004022240 |
91 | L>R | No |
ClinGen TOPMed |
|
|
rs888249863 CA51636266 |
91 | L>V | No |
ClinGen TOPMed |
|
|
rs1472558423 CA347617654 |
92 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1771020 rs780674390 |
93 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs895600798 CA51636292 |
94 | V>L | No |
ClinGen TOPMed |
|
|
rs201776307 CA1771023 |
95 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA51636312 rs768312951 |
96 | V>A | No |
ClinGen TOPMed |
|
|
CA1771024 rs570501640 |
96 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566678690 CA1771025 |
97 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347617684 rs566678690 |
97 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1771048 rs771774829 |
99 | V>E | No |
ClinGen ExAC TOPMed |
|
|
rs895653310 CA51636614 |
99 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs895653310 CA347617707 |
99 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs200100676 CA1771050 |
101 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200100676 CA1771051 |
101 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200100676 CA347617717 |
101 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781609815 CA1771049 |
101 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA347617725 rs371857536 |
102 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1437336756 CA347617726 COSM3910773 |
103 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA347617734 rs1301390987 |
104 | A>T | No |
ClinGen gnomAD |
|
|
rs376702791 CA1771053 |
104 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs185963647 CA347617751 |
106 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764191361 CA1771054 |
106 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1771056 rs142809353 |
107 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1165668399 CA347617757 |
108 | V>I | No |
ClinGen TOPMed |
|
|
rs1268667791 CA347617765 |
109 | C>G | No |
ClinGen gnomAD |
|
|
CA347617771 rs768063789 |
110 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771057 rs768063789 |
110 | A>T | Variant assessed as Somatic; 4.932e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1771058 rs750808341 |
111 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA347617786 rs1433280019 |
112 | I>S | No |
ClinGen gnomAD |
|
|
CA1771060 rs779822834 |
113 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA347617789 rs779822834 |
113 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs779822834 CA347617788 |
113 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1771061 rs201610848 |
113 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1459345906 CA347617795 |
114 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1771063 rs778430740 |
114 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459345906 CA347617794 |
114 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs773047661 CA347617807 |
116 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs138181911 CA1771065 |
116 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1771064 rs546730150 |
116 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 120 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1294949925 CA347617824 |
120 | V>M | No |
ClinGen TOPMed |
|
|
rs1227523886 CA347617831 |
121 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 122 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145928267 CA1771068 |
123 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1771070 rs763183931 |
124 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1488499671 CA347617850 |
124 | G>V | No |
ClinGen gnomAD |
|
|
CA1771071 rs763183931 |
124 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs965544697 CA51636760 |
128 | C>S | No |
ClinGen TOPMed |
|
|
rs1558740205 CA347617881 |
129 | C>R | No |
ClinGen Ensembl |
|
|
rs1573443975 CA347617884 |
129 | C>S | No |
ClinGen Ensembl |
|
|
rs768118946 CA1771075 |
131 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750859182 CA347617898 |
131 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750859182 CA1771076 |
131 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374202321 COSM383273 CA1771078 |
134 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1771077 rs756577704 |
134 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149258941 CA1771079 |
135 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs552167244 CA1771080 |
135 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552167244 CA1771081 |
135 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1771082 rs747681321 |
136 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs534610509 CA1771084 |
137 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347617936 rs1222496642 |
138 | G>E | No |
ClinGen TOPMed |
|
|
rs770731866 CA1771086 |
138 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs780904194 CA1771087 |
139 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347617940 rs749543392 |
139 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771088 rs749543392 |
139 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347617947 rs1573444111 |
140 | V>G | No |
ClinGen Ensembl |
|
|
CA347617942 rs1341001991 |
140 | V>M | No |
ClinGen gnomAD |
|
|
rs147971761 CA1771089 |
142 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM576456 rs774348766 CA347617961 |
143 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1771090 rs774348766 |
143 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1484217268 CA347617970 |
144 | H>Y | No |
ClinGen gnomAD |
|
|
rs939899617 CA51636907 |
146 | A>S | No |
ClinGen TOPMed |
|
|
rs140180029 CA1771091 |
146 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA51636918 rs949870596 |
148 | A>T | No |
ClinGen TOPMed |
|
|
CA347618001 rs1405628742 |
149 | C>Y | No |
ClinGen TOPMed |
|
|
CA347618016 rs1169425295 |
151 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs568114384 COSM249719 CA1771096 |
151 | R>H | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs568114384 CA347618017 |
151 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1771097 rs759168727 |
152 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771098 rs142187492 |
152 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347618023 rs1293362770 |
153 | A>S | No |
ClinGen gnomAD |
|
|
rs1200851258 CA347618030 |
154 | L>V | No |
ClinGen TOPMed |
|
|
CA347618040 rs1471965341 |
155 | M>I | No |
ClinGen TOPMed |
|
|
rs757929800 CA1771100 |
155 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1198269642 CA347618046 |
156 | V>A | No |
ClinGen gnomAD |
|
|
rs1249029758 CA347618043 |
156 | V>I | No |
ClinGen TOPMed |
|
|
CA347618061 rs1480725183 |
158 | L>R | No |
ClinGen TOPMed |
|
|
CA1771102 rs751508559 |
159 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA347618075 rs1207682241 |
161 | T>I | No |
ClinGen TOPMed |
|
|
CA347618073 rs1208458324 |
161 | T>S | No |
ClinGen gnomAD |
|
|
rs1483793213 CA347618078 |
162 | T>A | No |
ClinGen gnomAD |
|
|
CA347618085 rs1246761130 |
163 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1246761130 CA347618084 |
163 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1771107 rs779227090 |
164 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771109 rs772292870 |
166 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347618118 rs1331033310 |
167 | I>V | No |
ClinGen gnomAD |
|
|
CA347618123 rs1435171362 |
168 | G>S | No |
ClinGen gnomAD |
|
|
CA1771130 rs777222713 |
176 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771131 rs746308781 |
177 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746308781 CA1771132 |
177 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775648400 CA1771133 |
178 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149240402 CA1771135 |
178 | R>H | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs149240402 CA1771136 |
178 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775648400 CA1771134 |
178 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771137 rs142270551 |
179 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1771140 rs760700739 |
180 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771141 rs760700739 |
180 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385505052 CA347618197 |
180 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 182 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1771143 rs199674754 |
182 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771144 rs778110327 |
184 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1410882306 CA347618228 |
184 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA51637242 rs557440483 |
187 | I>F | No |
ClinGen TOPMed |
|
|
rs200767057 CA347618250 |
187 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347618255 rs1315998114 |
188 | E>D | No |
ClinGen TOPMed |
|
|
CA1771146 rs142227441 |
188 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142227441 CA1771147 |
188 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1289248236 CA347618265 |
190 | M>L | No |
ClinGen gnomAD |
|
|
rs369779960 CA51637257 |
193 | T>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs770194775 CA1771150 |
194 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA51637298 rs949937769 |
196 | S>R | No |
ClinGen TOPMed |
|
|
CA1771151 rs140211541 |
197 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1771152 rs140211541 |
197 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1771153 rs768973143 |
199 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 200 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774018520 CA1771154 |
200 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA347618332 rs1281727862 |
201 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1771155 rs761314820 |
203 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 204 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347618349 rs1291244656 |
204 | V>I | No |
ClinGen TOPMed |
|
|
CA347618395 rs1205988292 |
209 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 210 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347618410 rs1573445382 |
211 | V>G | No |
ClinGen Ensembl |
|
|
CA1771176 rs371378593 |
211 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1431319333 CA347618427 |
214 | Q>* | No |
ClinGen gnomAD |
|
|
rs760070766 CA1771177 |
215 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776731438 CA1771179 |
216 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1771178 rs770524606 |
216 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1771180 rs374762669 |
217 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1771181 rs765124948 |
218 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 219 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 220 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420793279 CA347618471 |
221 | Q>E | No |
ClinGen gnomAD |
|
|
CA347618485 rs1229811221 |
223 | S>A | No |
ClinGen gnomAD |
|
|
rs1279747205 CA347618517 |
227 | D>E | No |
ClinGen TOPMed |
|
|
CA347618534 rs1271428583 |
228 | G>D | No |
ClinGen gnomAD |
|
|
rs187661008 CA1771202 |
229 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1159020002 CA347618545 |
230 | G>D | No |
ClinGen gnomAD |
|
|
rs760825176 CA1771203 |
232 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA347618565 rs1421633712 |
233 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766515604 CA1771204 |
234 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA51637823 rs911436728 |
235 | S>N | No |
ClinGen TOPMed |
|
|
CA347618579 rs150332409 |
235 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755530122 CA1771206 |
236 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3695640 rs535604152 CA1771207 |
236 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs753205315 CA1771208 |
237 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1771210 rs778138371 |
238 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347618593 rs1241982778 |
238 | H>R | No |
ClinGen gnomAD |
|
|
CA1771209 rs758709182 |
238 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746646089 CA1771211 |
239 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA51637870 rs994247009 |
240 | Q>P | No |
ClinGen TOPMed |
|
|
CA347618614 rs1224173896 |
242 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347618633 rs1482248385 |
244 | S>F | No |
ClinGen gnomAD |
|
|
rs1046218405 CA51637916 |
245 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1573446332 CA347618643 |
246 | Y>S | No |
ClinGen Ensembl |
|
|
CA347618668 rs536086369 |
250 | A>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs780906535 CA1771213 |
250 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536086369 CA51637934 |
250 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs751564910 CA51637938 |
251 | A>S | No |
ClinGen gnomAD |
|
|
CA347618676 rs1001916471 |
252 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA51637967 rs1001916471 |
252 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA347618683 rs1308484216 |
253 | G>D | No |
ClinGen gnomAD |
|
|
rs144599982 CA1771214 |
256 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 256 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347618714 rs1311932289 |
258 | V>I | No |
ClinGen gnomAD |
|
|
CA347618738 rs1205636210 |
260 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA347618740 rs1246208301 |
260 | Q>R | No |
ClinGen gnomAD |
|
|
rs745470775 CA1771231 |
263 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187293583 CA347618756 |
263 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1771234 rs749256106 |
271 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768628476 CA1771235 COSM722883 |
272 | T>A | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1771236 rs372317837 |
272 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 273 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139022633 CA1771237 |
275 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139022633 CA347618832 |
275 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1771238 rs771812681 |
276 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1266818636 CA347618859 |
279 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs765232403 CA1771241 |
279 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347618863 rs1387462001 |
280 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA347618901 rs1244026973 |
285 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347618920 rs769431746 |
288 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA51638319 rs769431746 |
288 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1771245 rs752010195 |
288 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771246 rs762292638 |
289 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA347618922 rs762292638 |
289 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1771247 rs371558059 |
290 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 291 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777295491 CA347618936 |
291 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055874246 CA347618938 |
291 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1055874246 CA51638349 |
291 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs777295491 CA1771249 |
291 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347618944 rs1160744922 |
292 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755787812 CA1771250 |
293 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435240102 CA347618949 COSM1023695 |
293 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1303389944 CA347618952 |
294 | L>I | No |
ClinGen gnomAD |
|
|
CA51638352 rs947348803 |
295 | L>F | No |
ClinGen TOPMed |
|
|
CA347618982 rs1352310112 |
299 | Q>E | No |
ClinGen TOPMed |
|
|
CA1771253 rs754914820 |
301 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347619004 rs778855227 |
302 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778855227 CA1771254 |
302 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344562690 CA347619017 |
304 | Q>E | No |
ClinGen TOPMed |
|
|
rs771864204 CA1771257 |
306 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs142565142 CA1771258 |
306 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1558742049 CA347619046 |
308 | A>S | No |
ClinGen Ensembl |
|
|
CA51638385 rs865873719 |
310 | A>S | No |
ClinGen TOPMed |
|
|
CA347619056 rs865873719 |
310 | A>T | No |
ClinGen TOPMed |
|
|
rs1052073099 CA51638389 |
312 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA51638390 rs888948368 |
313 | W>* | No |
ClinGen TOPMed |
|
|
CA347619084 rs1179800138 |
314 | A>D | No |
ClinGen gnomAD |
|
|
CA1771262 rs370908025 |
315 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1771263 rs77052566 |
315 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1771264 rs77052566 |
315 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347619094 rs1410906607 |
316 | T>I | No |
ClinGen gnomAD |
|
|
rs1163774293 CA347619109 |
319 | L>M | No |
ClinGen gnomAD |
|
|
CA347619119 rs1573447515 |
320 | G>V | No |
ClinGen Ensembl |
|
|
rs1221336677 CA347619141 |
323 | F>L | No |
ClinGen TOPMed |
|
|
CA1771282 rs749414885 |
326 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347619174 rs1276383771 |
327 | P>S | No |
ClinGen gnomAD |
|
|
CA51638692 CA347619196 rs376108060 |
330 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs768787731 CA1771283 |
330 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA347619207 rs1187498116 |
332 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA347619205 rs1187498116 |
332 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs774569246 CA1771284 |
333 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA347619220 rs1469687418 |
334 | H>Q | No |
ClinGen gnomAD |
|
|
CA1771286 rs765430269 COSM1669134 |
334 | H>Y | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs541316361 CA1771287 |
336 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1408343775 CA347619244 |
338 | G>C | No |
ClinGen gnomAD |
|
|
CA347619242 rs1408343775 |
338 | G>S | No |
ClinGen gnomAD |
|
|
rs1558742466 CA347619256 |
340 | P>S | No |
ClinGen Ensembl |
|
|
rs75562780 CA1771290 |
341 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1322568826 CA347619269 |
342 | A>D | No |
ClinGen gnomAD |
|
|
rs140756227 CA1771291 |
342 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs576460719 CA51638750 |
343 | N>S | No |
ClinGen gnomAD |
|
|
rs1326402678 CA347619291 |
345 | S>C | No |
ClinGen gnomAD |
|
|
CA347619295 rs1204086568 |
346 | S>G | No |
ClinGen gnomAD |
|
|
CA347619302 rs1261958274 |
347 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347619318 rs1448432399 |
349 | Q>* | No |
ClinGen gnomAD |
|
|
CA51638768 rs867857158 |
350 | E>K | No |
ClinGen Ensembl |
|
|
rs1271681988 CA347619343 |
351 | E>Q | No |
ClinGen gnomAD |
|
|
rs771329374 CA1771309 |
352 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406393082 CA347619363 |
353 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1573449250 CA347619366 |
354 | T>P | No |
ClinGen Ensembl |
|
|
rs776851739 CA1771310 |
355 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 356 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347619387 rs1161628972 |
357 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA347619396 rs1365240895 |
358 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 360 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51639257 rs867966674 |
360 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 363 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51639262 rs769089835 |
364 | M>T | No |
ClinGen gnomAD |
|
|
CA347619438 rs1304799665 |
365 | Q>P | No |
ClinGen gnomAD |
|
|
rs1423854535 CA347619443 |
366 | T>A | No |
ClinGen TOPMed |
|
|
rs138515767 CA1771312 |
367 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347619462 rs1307658342 |
369 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1771314 rs762479534 |
370 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1771341 rs777962866 |
373 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA1771344 rs757822527 |
374 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757822527 CA1771343 |
374 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347619519 rs1239409281 |
376 | A>P | No |
ClinGen TOPMed |
|
|
CA347619520 rs1239409281 |
376 | A>S | No |
ClinGen TOPMed |
|
|
rs1298699092 CA347619528 |
377 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746322807 CA1771345 |
377 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 378 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347619534 rs1406119490 |
378 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs537330308 CA1771347 |
379 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs537330308 CA1771346 |
379 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs139275737 CA1771349 |
381 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1771350 rs189781710 |
381 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761264001 CA1771352 |
383 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771566551 CA1771353 |
383 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA1771354 rs773298011 |
384 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347619572 rs1205698211 |
385 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 385 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347619578 rs1485700140 |
386 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1187346709 CA347619586 |
387 | L>P | No |
ClinGen gnomAD |
|
|
rs1187346709 CA347619587 |
387 | L>R | No |
ClinGen gnomAD |
|
|
rs1479349170 CA347619588 |
388 | A>T | No |
ClinGen gnomAD |
|
|
rs866014497 CA51639580 |
390 | G>E | No |
ClinGen Ensembl |
|
|
CA347619607 rs1198534488 |
391 | F>I | No |
ClinGen gnomAD |
|
|
rs1198534488 CA347619609 |
391 | F>V | No |
ClinGen gnomAD |
|
|
rs763311478 CA1771358 |
392 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149624755 CA1771361 |
393 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347619629 rs1573449910 |
394 | L>W | No |
ClinGen Ensembl |
|
|
rs1342717785 CA347619636 |
395 | E>G | No |
ClinGen gnomAD |
|
|
rs1367789015 CA347619640 |
396 | A>T | No |
ClinGen TOPMed |
|
|
rs537196418 CA1771363 |
399 | R>C | Variant assessed as Somatic; 4.672e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1771364 rs376300412 |
399 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347619661 rs376300412 |
399 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347619678 rs1416001344 |
402 | Q>E | No |
ClinGen TOPMed |
|
|
rs749622220 CA1771366 |
402 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1282175684 CA347619686 |
403 | A>T | No |
ClinGen gnomAD |
|
|
CA347619701 rs1558743372 |
405 | Q>H | No |
ClinGen Ensembl |
|
|
rs1573449989 CA347619716 |
407 | V>G | No |
ClinGen Ensembl |
|
|
rs1573450015 CA347619721 |
408 | E>G | No |
ClinGen Ensembl |
|
|
rs1488050794 CA347619719 |
408 | E>K | No |
ClinGen TOPMed |
|
|
rs1287348673 CA347619729 |
409 | E>G | No |
ClinGen gnomAD |
|
|
CA1771371 rs369103674 |
410 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369103674 CA1771370 |
410 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1771372 rs747780958 |
411 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs771490375 CA1771373 |
412 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1771374 rs201902801 |
412 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1771375 rs746998250 |
413 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347619750 rs746998250 |
413 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771378 rs776604950 |
416 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1217544735 CA347619775 |
417 | E>K | No |
ClinGen TOPMed |
|
|
rs1573450103 CA347619788 |
418 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 420 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51639708 rs900557859 |
421 | Y>F | No |
ClinGen TOPMed |
|
|
CA347619813 rs1278323682 |
422 | E>K | No |
ClinGen gnomAD |
|
|
rs1372632769 CA347619816 |
422 | E>V | No |
ClinGen gnomAD |
|
|
rs1573450157 CA347619819 |
423 | T>P | No |
ClinGen Ensembl |
|
|
rs765032579 CA1771381 |
424 | Y>D | No |
ClinGen ExAC |
|
|
rs1309379579 CA347619833 |
425 | R>G | No |
ClinGen gnomAD |
|
|
CA1771410 rs199504764 |
426 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs755508521 CA1771411 |
427 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs147461396 CA1771413 |
428 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777596513 CA1771415 |
431 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs139194723 CA1771417 |
434 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201963410 CA347619908 |
435 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201963410 CA1771420 |
435 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347619915 rs1469351603 |
436 | V>F | No |
ClinGen gnomAD |
|
|
rs779754334 CA1771421 |
437 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1771424 rs536541465 |
439 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1023696 CA1771423 rs536541465 |
439 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs760823115 CA1771425 |
440 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1226187927 CA347619935 |
440 | V>M | No |
ClinGen TOPMed |
|
|
CA1771427 rs776762440 |
442 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs760007050 CA1771428 |
443 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA51640285 rs940805063 |
444 | L>P | No |
ClinGen TOPMed |
|
|
rs756965676 CA1771434 |
450 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs756965676 COSM1720134 CA347619997 |
450 | G>D | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 450 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780624889 CA1771435 |
452 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234265912 CA347620025 |
455 | S>P | No |
ClinGen Ensembl |
|
|
rs1468683604 CA347620031 |
456 | A>T | No |
ClinGen gnomAD |
|
|
rs371765268 CA1771438 |
456 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749124757 CA1771439 |
457 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs553279983 CA1771440 |
458 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347620051 rs1573451783 |
459 | D>A | No |
ClinGen Ensembl |
|
|
rs144977181 CA1771442 |
459 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1771443 rs143235835 |
461 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1477635804 CA347620067 |
461 | S>R | No |
ClinGen TOPMed |
|
|
rs1237765088 CA347620081 |
463 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs776610219 CA1771444 |
464 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1355479149 CA347620086 |
464 | E>G | No |
ClinGen gnomAD |
|
|
rs776610219 CA347620083 |
464 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 464 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs572182451 CA1771445 |
465 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 466 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1771448 rs763485519 |
468 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1270151004 CA347620114 |
468 | E>D | No |
ClinGen gnomAD |
|
|
CA1771447 rs776077038 |
468 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211253742 CA347620119 |
469 | A>D | No |
ClinGen TOPMed |
|
|
rs764619964 CA1771449 |
469 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs751957720 CA1771450 |
470 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA347620130 rs1381140610 |
471 | A>V | No |
ClinGen gnomAD |
|
|
rs761599343 CA347620131 |
472 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1771451 rs761599343 |
472 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771452 rs148168666 |
472 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1771454 rs755665125 |
475 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1771456 rs765742985 |
476 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs759358223 CA1771457 |
476 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765186582 CA1771477 |
477 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320067234 CA347620182 |
478 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758223322 CA1771479 |
482 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777362957 CA1771480 |
484 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347620226 rs1191182795 |
485 | A>G | No |
ClinGen TOPMed |
|
|
CA1771482 rs150250722 |
485 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA347620239 rs1427725908 |
487 | P>L | No |
ClinGen gnomAD |
|
|
CA51640955 rs143192230 |
488 | L>F | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 492 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772557535 CA1771488 |
494 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771487 rs142421342 |
494 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142421342 CA1771486 |
494 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142421342 CA1771485 |
494 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs143876231 CA1771489 |
496 | F>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA1771493 rs759065552 |
498 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs375842226 CA1771492 |
498 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1383198931 CA347620440 |
500 | G>D | No |
ClinGen gnomAD |
|
|
rs752633419 CA1771495 |
502 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51641026 rs752633419 COSM3426761 |
502 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1222235509 CA347620533 |
504 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs764006303 CA347620538 |
505 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347620549 rs1394690852 |
506 | V>L | No |
ClinGen TOPMed |
|
|
rs12992066 CA51641067 |
508 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs12992066 CA51641047 |
508 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_042749 CA1771498 rs12992066 |
508 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA347620606 rs1375247238 |
510 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 511 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558745244 CA347620648 |
513 | G>D | No |
ClinGen Ensembl |
|
|
rs72819488 CA1771500 |
513 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755114454 CA1771502 |
514 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182601022 CA347620735 |
517 | E>G | No |
ClinGen TOPMed |
|
|
rs1290500288 CA347620930 |
519 | A>V | No |
ClinGen gnomAD |
|
|
rs752691807 CA1771528 |
523 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1272207277 CA347621050 |
524 | N>S | No |
ClinGen TOPMed |
|
|
rs1242200245 CA347621082 |
526 | P>S | No |
ClinGen TOPMed |
|
|
CA1771530 rs146706380 |
527 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA51641337 rs146706380 |
527 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA51641334 rs764702605 |
527 | P>S | No |
ClinGen Ensembl |
|
|
rs771285757 CA1771532 |
529 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs745576900 CA1771534 |
532 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs893991669 CA51641362 |
533 | Q>E | No |
ClinGen TOPMed |
|
|
CA347621243 rs1573454897 |
533 | Q>R | No |
ClinGen Ensembl |
|
|
CA1771537 rs762400458 |
540 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351927984 CA347621378 |
543 | I>S | No |
ClinGen TOPMed |
|
|
rs1466255045 CA347621393 |
544 | H>R | No |
ClinGen gnomAD |
|
|
rs1399581411 CA347621386 |
544 | H>Y | No |
ClinGen gnomAD |
|
|
CA347621434 rs1166004740 |
547 | Y>C | No |
ClinGen TOPMed |
|
|
CA347621432 rs1166004740 |
547 | Y>S | No |
ClinGen TOPMed |
|
|
CA347621444 rs1388906535 |
548 | Q>* | No |
ClinGen TOPMed |
|
|
rs773248131 CA347621528 |
548 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347621554 rs1301790232 |
549 | Q>H | No |
ClinGen gnomAD |
|
|
rs1214179455 CA347621577 |
550 | C>* | No |
ClinGen gnomAD |
|
|
CA1771561 rs760573099 |
550 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51641481 rs915442432 |
551 | K>E | No |
ClinGen TOPMed |
|
|
CA1771562 rs766135792 |
553 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347621644 rs1310300667 |
554 | A>S | No |
ClinGen TOPMed |
|
|
CA1771563 rs775576750 COSM3408035 |
555 | A>V | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA347621679 rs1427229763 |
556 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1467083981 CA347621686 |
557 | W>* | No |
ClinGen TOPMed |
|
|
CA347621718 rs1300511146 |
562 | L>F | No |
ClinGen gnomAD |
|
|
rs901333649 CA51641538 |
564 | D>N | No |
ClinGen TOPMed |
|
|
rs369488555 CA1771570 |
567 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780463952 CA51641557 |
573 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771571 rs780463952 |
573 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771572 rs748953685 |
574 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1049781561 CA51641567 |
574 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754639534 CA1771573 |
576 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA1771595 rs757991272 |
577 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771593 rs752335624 |
577 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757991272 CA1771594 |
577 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310938629 CA347607540 |
578 | T>A | No |
ClinGen gnomAD |
|
|
rs1283142325 CA347607547 |
578 | T>S | No |
ClinGen TOPMed |
|
|
rs1043151661 CA51621753 |
579 | N>S | No |
ClinGen TOPMed |
|
|
CA1771597 rs770881874 |
580 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1316115015 CA347607602 |
582 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1316115015 CA347607599 |
582 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs553459907 CA1771598 |
582 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs745708751 CA1771599 |
584 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA347607637 rs1573459084 |
585 | L>V | No |
ClinGen Ensembl |
|
|
rs149222301 CA51621759 |
587 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA347607696 rs1342500032 |
589 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 590 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347607729 rs1198951909 |
591 | D>N | No |
ClinGen gnomAD |
|
|
CA1771600 rs769427948 |
593 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868473351 CA51621762 |
594 | S>R | No |
ClinGen gnomAD |
|
|
rs774569766 CA1771601 |
596 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558747823 CA347607803 |
597 | L>M | No |
ClinGen Ensembl |
|
|
rs762017263 CA1771602 |
597 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA347607815 rs1481399085 |
598 | L>P | No |
ClinGen TOPMed |
|
|
CA1771603 rs199794503 |
600 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761124698 CA1771605 |
602 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754246458 CA1771607 |
603 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759955085 CA1771608 |
603 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 604 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752468517 CA1771612 |
604 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1771611 rs765627100 |
604 | R>W | No |
ClinGen ExAC TOPMed |
|
|
CA347607927 rs1262983301 |
605 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 605 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 606 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377215769 CA1771613 |
606 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1771614 rs545169096 |
607 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1231275933 CA347607971 |
608 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 610 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1771616 rs756684142 |
611 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs890435156 CA51621841 |
612 | S>G | No |
ClinGen TOPMed |
|
|
CA347608052 rs1260782428 |
613 | G>R | No |
ClinGen gnomAD |
|
|
CA1771617 rs781212836 |
616 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745735102 CA1771618 |
616 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769697308 CA1771619 |
617 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs76449795 CA347608162 |
618 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1771620 rs779810242 |
618 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1771622 rs772250110 |
619 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347608175 rs1573459395 |
619 | Y>S | No |
ClinGen Ensembl |
|
|
CA1771624 rs200131396 |
620 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347608199 rs200131396 |
620 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200131396 CA347608197 |
620 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA51621852 rs964582820 |
620 | P>S | No |
ClinGen TOPMed |
|
|
COSM1023699 CA347608204 rs1299368329 |
621 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1771627 rs759960403 |
624 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771628 rs765758119 |
625 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1771629 rs138402783 |
625 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1350515788 CA347608429 |
626 | I>M | No |
ClinGen gnomAD |
|
|
rs374497335 CA1771645 |
627 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1771646 rs776102672 |
629 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1771647 rs763434626 |
630 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1771648 rs763434626 |
630 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA347608528 rs1280573376 |
632 | K>E | No |
ClinGen TOPMed |
|
|
rs1219798837 CA347608557 |
633 | T>I | No |
ClinGen TOPMed |
|
|
CA347608606 rs1256882382 |
635 | M>I | No |
ClinGen gnomAD |
|
|
CA347608593 rs1196272528 |
635 | M>K | No |
ClinGen gnomAD |
|
|
CA347608595 rs1196272528 |
635 | M>T | No |
ClinGen gnomAD |
|
|
CA347608643 rs1453424937 |
637 | Q>H | No |
ClinGen gnomAD |
|
|
rs1234906481 CA347608658 |
639 | A>T | No |
ClinGen gnomAD |
|
|
rs761357964 CA1771650 |
639 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 641 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1771653 rs755579007 |
644 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357192995 CA347608771 |
646 | A>D | No |
ClinGen gnomAD |
|
|
CA1771655 rs753714608 |
648 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs573242340 CA1771654 |
648 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347608830 rs1216726869 |
649 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 649 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs922001815 CA51622509 |
650 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758174402 CA1771676 |
650 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771679 rs756267013 |
653 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1157965659 CA347609156 |
655 | G>E | No |
ClinGen gnomAD |
|
|
CA1771682 rs200882866 |
657 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200882866 CA1771681 |
657 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1771680 rs540555921 |
657 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA347609308 rs1330038069 |
661 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
COSM117079 CA347609291 rs1339652382 |
661 | E>K | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA347609315 rs1436695025 |
662 | A>P | No |
ClinGen gnomAD |
|
|
rs772420994 CA347609338 |
663 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771685 rs772420994 |
663 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347609423 rs1297539326 |
667 | N>K | No |
ClinGen TOPMed |
|
|
CA347609437 rs1351940538 |
668 | L>I | No |
ClinGen gnomAD |
|
|
rs1351940538 CA347609432 |
668 | L>V | No |
ClinGen gnomAD |
|
|
CA1771689 rs776101081 |
669 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs759514950 CA1771690 |
670 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1194469605 CA347609511 |
671 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1771691 rs765121657 |
673 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1771694 rs763883954 |
674 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763883954 CA347609588 |
674 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771693 rs762671462 |
674 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771696 rs756391678 |
675 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750741001 CA1771695 |
675 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1425925986 CA347609610 |
676 | Q>E | No |
ClinGen TOPMed |
|
|
rs779445986 CA1771697 |
679 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1193643049 CA347609708 |
680 | V>A | No |
ClinGen TOPMed |
|
|
CA347610598 rs1250329373 |
685 | L>I | No |
ClinGen gnomAD |
|
|
rs1330105524 CA347610605 |
686 | S>G | No |
ClinGen TOPMed |
|
|
rs1464732395 CA347610609 |
686 | S>I | No |
ClinGen gnomAD |
|
|
rs202017454 CA1771717 |
687 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA51622730 rs369154449 |
688 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA347610627 rs1558749255 |
689 | A>G | No |
ClinGen Ensembl |
|
|
CA347610628 rs1558749255 |
689 | A>V | No |
ClinGen Ensembl |
|
|
CA1771719 rs529990921 |
690 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 692 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1771721 rs747409695 |
694 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs757571776 CA1771722 |
695 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771723 rs757571776 |
695 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199160689 CA347610670 |
697 | L>I | No |
ClinGen gnomAD |
|
|
rs1573462850 CA347610802 |
699 | L>R | No |
ClinGen Ensembl |
|
|
CA347610821 rs1275508468 |
700 | E>V | No |
ClinGen TOPMed |
|
|
rs373064953 CA51623076 |
701 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA347610834 rs1573462866 |
701 | T>P | No |
ClinGen Ensembl |
|
|
CA347610866 rs1453695339 |
702 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753092278 CA51623084 |
703 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs779532867 CA1771745 |
705 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1276899216 CA347610964 |
707 | N>S | No |
ClinGen TOPMed |
|
|
rs1276899216 CA347610959 |
707 | N>T | No |
ClinGen TOPMed |
|
|
rs768221237 CA1771746 |
708 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1300892575 CA347611012 |
710 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347611063 rs1292550909 |
713 | G>A | No |
ClinGen TOPMed |
|
|
rs778997529 CA1771747 |
713 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1771748 rs149347187 |
714 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1236288975 CA347611068 |
714 | E>K | No |
ClinGen gnomAD |
|
|
CA347611137 rs1352809079 |
717 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1261918990 CA347611180 |
719 | A>G | No |
ClinGen gnomAD |
|
|
rs1216447930 CA347611170 |
719 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 720 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141753249 CA1771749 |
722 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1771750 rs773032862 |
722 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA347611294 rs1253314370 |
725 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1051091428 CA51623299 |
726 | V>M | No |
ClinGen TOPMed |
|
|
CA1771768 rs777528108 |
727 | S>N | No |
ClinGen ExAC TOPMed |
|
|
CA347611385 rs1308951577 |
732 | A>S | No |
ClinGen TOPMed |
|
|
rs770578741 CA1771770 |
732 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1486956370 CA347611389 |
733 | R>Q | No |
ClinGen gnomAD |
|
|
CA1771772 rs763160335 |
733 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768783344 CA1771773 |
735 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 738 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1771775 rs762348588 |
739 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1293329656 CA347611436 |
740 | Q>* | No |
ClinGen gnomAD |
|
|
CA1771777 rs750836561 |
740 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs766646820 CA1771779 |
741 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA347611443 rs761103774 |
741 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771778 rs761103774 |
741 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146228590 CA1771781 |
742 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1234965850 CA347611456 |
743 | A>D | No |
ClinGen gnomAD |
|
|
rs1234965850 CA347611458 |
743 | A>V | No |
ClinGen gnomAD |
|
|
rs1024997779 CA51623428 |
744 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 744 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1771782 rs764877634 |
744 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752284377 CA1771783 |
745 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51623429 rs752284377 |
745 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771786 rs757936168 |
747 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1193951600 CA347611503 |
749 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1193951600 CA347611502 |
749 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA51624126 rs977027541 |
751 | Q>* | No |
ClinGen TOPMed |
|
|
rs771370027 CA1771819 |
751 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777226405 CA1771820 |
752 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1771821 rs377469911 |
752 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347611525 rs1402005783 |
753 | I>V | No |
ClinGen gnomAD |
|
|
rs953956881 CA51624136 |
754 | A>S | No |
ClinGen TOPMed |
|
|
rs1573464926 CA347611536 |
755 | T>P | No |
ClinGen Ensembl |
|
|
rs1312361085 CA347611547 |
756 | C>W | No |
ClinGen gnomAD |
|
|
rs553877353 CA51624138 |
756 | C>Y | No |
ClinGen Ensembl |
|
|
rs775354442 CA1771823 |
758 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1771824 rs775354442 |
758 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1771822 rs115224562 |
758 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 761 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767465896 CA1771828 |
761 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347611577 rs1237494902 |
762 | A>T | No |
ClinGen gnomAD |
|
|
rs750292649 CA1771829 |
763 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1225477029 CA347611588 |
764 | D>H | No |
ClinGen gnomAD |
|
|
CA347611589 rs1225477029 |
764 | D>Y | No |
ClinGen gnomAD |
|
|
rs200518776 CA1771830 COSM1023702 |
767 | R>C | Variant assessed as Somatic; 4.635e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1771831 rs779810258 |
767 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA347611642 rs1254623616 |
772 | D>N | No |
ClinGen gnomAD |
|
|
rs1435906810 CA347611664 |
774 | M>I | No |
ClinGen gnomAD |
|
|
CA347611669 rs1180994046 |
775 | A>S | No |
ClinGen gnomAD |
|
|
rs1231708040 CA347611676 |
776 | D>A | No |
ClinGen TOPMed |
|
|
CA347611681 rs1471127698 |
777 | P>T | No |
ClinGen gnomAD |
|
|
CA347611716 rs1420139912 |
780 | A>D | No |
ClinGen TOPMed |
|
|
rs1161895577 CA347611713 |
780 | A>T | No |
ClinGen TOPMed |
|
|
rs1475915335 CA347611728 |
782 | W>R | No |
ClinGen TOPMed |
|
|
rs1359372825 CA347611737 |
783 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 783 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773940376 CA1771860 |
787 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA347611789 rs1208605313 |
787 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771618901 CA1771862 |
789 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1484767142 CA347611831 |
789 | T>P | No |
ClinGen TOPMed |
|
|
CA1771863 rs201374872 |
790 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147967943 CA1771864 |
790 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 791 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558750607 CA347611965 |
795 | S>I | No |
ClinGen Ensembl |
|
|
rs1172300004 CA347611983 |
796 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 797 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759251063 CA1771868 |
799 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs757535479 CA1771871 |
800 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs200062940 CA1771870 |
800 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1771873 rs750563088 |
801 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771874 rs756213857 |
802 | T>I | No |
ClinGen ExAC |
|
|
CA347612168 rs1302434289 |
804 | K>E | No |
ClinGen gnomAD |
|
|
rs1348447397 CA347612181 |
804 | K>I | No |
ClinGen gnomAD |
|
|
CA347612190 rs1212959224 |
805 | Y>D | No |
ClinGen gnomAD |
|
| TCGA novel | 805 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1573465610 CA347612200 |
805 | Y>S | No |
ClinGen Ensembl |
|
|
rs982361242 CA51624682 |
806 | F>S | No |
ClinGen TOPMed |
|
|
CA1771876 rs35884217 |
807 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145616061 CA1771877 |
807 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1771878 rs779313054 |
808 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347612259 rs779313054 |
808 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347612289 rs1573465669 |
809 | I>T | No |
ClinGen Ensembl |
|
|
CA1771879 rs368765858 |
810 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1771880 rs576676999 |
812 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1771881 rs772799198 |
812 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372442755 CA347613269 |
822 | Q>R | No |
ClinGen gnomAD |
|
|
CA1771901 rs770408944 |
823 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs770408944 CA1771902 |
823 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1771903 rs745837117 |
825 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573466322 CA347613372 |
827 | P>S | No |
ClinGen Ensembl |
|
|
rs201517106 CA1771907 |
828 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 828 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1771909 rs773637312 |
828 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771908 rs773637312 |
828 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1771906 rs201517106 |
828 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1771910 rs138759055 |
829 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1771911 COSM3669009 rs138759055 |
829 | V>L | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA51625113 rs376031340 |
830 | T>I | No |
ClinGen Ensembl |
|
|
CA1771913 rs765783316 |
834 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q8N271
No regional properties for Q8N271
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8N271 | |||
Functions
13 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| ciliary membrane | The portion of the plasma membrane surrounding a cilium. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| microspike | A dynamic, actin-rich projection extending from the surface of a migrating animal cell. |
| microvillus | Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. |
| microvillus membrane | The portion of the plasma membrane surrounding a microvillus. |
| prominosome | An extracellular membrane-bounded vesicle that contains prominin proteins (in mouse Prom1/CD33 or Prom2) and are found in body fluids including ventricular fluid, saliva, urine and seminal fluid. In the ventricular fluid of the developing mouse brain two major classes of these particles have been observed (P2 particles of 500-1000 nm and P4 particles of 50-80 nm) which likely originate from microvilli, primary cilia and/or the midbody of neuroepithelial cells. The physiological role is not known. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| cholesterol binding | Binding to cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of caveolin-mediated endocytosis | Any process that stops, prevents or reduces the frequency, rate or extent of caveolin-mediated endocytosis. |
| negative regulation of pinocytosis | Any process that stops, prevents, or reduces the frequency, rate or extent of pinocytosis. Pinocytosis is the process in which cells take in liquid material from their external environment; literally 'cell drinking'. Liquid is enclosed in vesicles, formed by invagination of the plasma membrane. These vesicles then move into the cell and pass their contents to endosomes. |
| positive regulation of cell projection organization | Any process that activates or increases the frequency, rate or extent of the process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. |
| positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
| regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3UUY6 | Prom2 | Prominin-2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKHTLALLAP | LLGLGLGLAL | SQLAAGATDC | KFLGPAEHLT | FTPAARARWL | APRVRAPGLL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DSLYGTVRRF | LSVVQLNPFP | SELVKALLNE | LASVKVNEVV | RYEAGYVVCA | VIAGLYLLLV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PTAGLCFCCC | RCHRRCGGRV | KTEHKALACE | RAALMVFLLL | TTLLLLIGVV | CAFVTNQRTH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EQMGPSIEAM | PETLLSLWGL | VSDVPQELQA | VAQQFSLPQE | QVSEELDGVG | VSIGSAIHTQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LRSSVYPLLA | AVGSLGQVLQ | VSVHHLQTLN | ATVVELQAGQ | QDLEPAIREH | RDRLLELLQE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ARCQGDCAGA | LSWARTLELG | ADFSQVPSVD | HVLHQLKGVP | EANFSSMVQE | ENSTFNALPA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LAAMQTSSVV | QELKKAVAQQ | PEGVRTLAEG | FPGLEAASRW | AQALQEVEES | SRPYLQEVQR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YETYRWIVGC | VLCSVVLFVV | LCNLLGLNLG | IWGLSARDDP | SHPEAKGEAG | ARFLMAGVGL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SFLFAAPLIL | LVFATFLVGG | NVQTLVCQSW | ENGELFEFAD | TPGNLPPSMN | LSQLLGLRKN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ISIHQAYQQC | KEGAALWTVL | QLNDSYDLEE | HLDINQYTNK | LRQELQSLKV | DTQSLDLLSS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AARRDLEALQ | SSGLQRIHYP | DFLVQIQRPV | VKTSMEQLAQ | ELQGLAQAQD | NSVLGQRLQE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EAQGLRNLHQ | EKVVPQQSLV | AKLNLSVRAL | ESSAPNLQLE | TSDVLANVTY | LKGELPAWAA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RILRNVSECF | LAREMGYFSQ | YVAWVREEVT | QRIATCQPLS | GALDNSRVIL | CDMMADPWNA |
| 790 | 800 | 810 | 820 | 830 | |
| FWFCLAWCTF | FLIPSIIFAV | KTSKYFRPIR | KRLSSTSSEE | TQLFHIPRVT | SLKL |