Q9BQI5
PR
Gene name |
SGIP1 |
Protein name |
SH3-containing GRB2-like protein 3-interacting protein 1 |
Names |
Endophilin-3-interacting protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84251 |
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
643 variants for Q9BQI5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA896031 rs775124239 |
8 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762351247 CA896032 |
8 | R>H | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 8 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457221483 COSM1602633 COSM1602632 COSM3705999 CA340680636 |
10 | R>K | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA340680670 rs1570801081 |
12 | A>V | No |
ClinGen Ensembl |
|
|
rs201749111 CA896036 |
14 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762294357 CA896035 |
14 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs201749111 CA340680697 |
14 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458787403 CA340680712 |
16 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs566273210 CA896038 |
16 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA23951432 rs149425441 |
21 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs1259129888 CA340680840 |
22 | T>I | No |
ClinGen TOPMed |
|
|
rs1185413842 CA340680857 |
23 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 24 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 25 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA896040 rs762547189 |
25 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA896068 rs546532528 |
26 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749126311 CA896069 |
27 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1298018565 CA340682007 |
30 | R>K | No |
ClinGen gnomAD |
|
|
CA340682017 rs1251581226 |
31 | D>G | No |
ClinGen TOPMed |
|
|
rs768213500 CA896070 |
32 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1288051747 CA340683093 |
34 | Q>H | No |
ClinGen TOPMed |
|
|
CA896112 rs752632250 |
35 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1305993065 CA340683105 |
35 | P>R | No |
ClinGen Ensembl |
|
| TCGA novel | 36 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA896113 rs376277346 |
36 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs929410111 CA23961449 |
37 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777494003 CA896114 |
37 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA896116 rs756911157 |
38 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770097981 CA896119 |
39 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA896118 COSM911719 rs372902905 |
39 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1323589029 CA340683157 |
40 | P>T | No |
ClinGen gnomAD |
|
|
CA340683169 rs1558154834 |
41 | P>S | No |
ClinGen Ensembl |
|
|
rs1435374718 CA340683184 |
42 | Y>* | No |
ClinGen TOPMed |
|
|
rs1200236705 CA340683181 |
42 | Y>F | No |
ClinGen TOPMed |
|
|
CA896121 rs749732539 |
42 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340683188 rs1304237322 |
43 | N>D | No |
ClinGen gnomAD |
|
|
CA896122 rs769143155 |
43 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1304237322 CA340683190 |
43 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 44 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs192906824 CA896123 |
48 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761927780 CA896124 |
48 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA896125 rs767669797 |
49 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs376907150 CA896126 |
49 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA896127 rs201398961 |
50 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA896129 rs143844959 |
50 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA896128 rs201398961 |
50 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA896130 rs758468314 |
51 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA896132 rs762995680 |
52 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 53 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340683295 rs1169423397 |
53 | G>R | No |
ClinGen gnomAD |
|
|
rs1326451140 CA340683313 |
54 | K>R | No |
ClinGen gnomAD |
|
|
CA896134 rs141925067 |
55 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1394139864 | 56 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057301453 CA23961651 |
57 | S>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 58 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs914215502 CA23964979 |
59 | K>N | No |
ClinGen Ensembl |
|
|
rs1316448323 CA340683863 |
60 | S>N | No |
ClinGen gnomAD |
|
|
CA896147 rs762812337 |
61 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA896146 rs745666183 |
61 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA340683885 rs1237484609 |
63 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1333334116 CA340683892 |
63 | A>V | No |
ClinGen gnomAD |
|
|
rs1233275414 CA340683898 |
64 | P>Q | No |
ClinGen gnomAD |
|
|
CA340683908 rs1261838676 |
65 | N>D | No |
ClinGen gnomAD |
|
|
CA340683925 rs1485870837 |
65 | N>K | No |
ClinGen gnomAD |
|
|
CA896150 rs756733559 |
69 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896151 rs200265343 |
69 | A>V | Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA896153 rs755818247 |
70 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA896154 rs201045046 |
71 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 72 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340684076 rs1474108837 |
73 | W>G | No |
ClinGen gnomAD |
|
|
rs1463593159 CA340684669 |
79 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA23968100 rs368408332 |
84 | E>D | No |
ClinGen ESP TOPMed |
|
|
rs767346837 CA896170 |
85 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA896171 rs749981311 |
87 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs753437276 CA896174 |
91 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896176 rs183329341 |
92 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA896177 rs183329341 |
92 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1209129238 CA340684821 |
93 | P>R | No |
ClinGen gnomAD |
|
|
rs778111547 CA896179 |
94 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs976006760 CA23968782 |
100 | H>Q | No |
ClinGen TOPMed |
|
|
CA340684942 rs1279671385 |
100 | H>Y | No |
ClinGen TOPMed |
|
|
rs753146209 CA896195 |
101 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1337618906 CA340684968 |
102 | Y>C | No |
ClinGen TOPMed |
|
|
rs202205354 CA23968797 COSM682375 COSM682374 |
107 | S>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD |
|
rs1347555311 CA340685043 |
109 | E>A | No |
ClinGen gnomAD |
|
|
rs17490057 VAR_027297 CA896199 |
112 | E>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA896200 rs757420611 |
118 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407877294 CA340685179 |
119 | I>F | No |
ClinGen TOPMed |
|
| TCGA novel | 120 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363666183 CA340685227 |
120 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs781491340 CA896201 |
121 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 126 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340685388 rs1187116315 |
128 | D>H | No |
ClinGen TOPMed |
|
|
rs780104826 CA896204 |
130 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs771713019 CA896206 |
131 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs7526812 CA896205 VAR_027298 |
131 | K>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs557044121 CA896207 |
132 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA896208 rs746880492 |
133 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA340685583 rs1485040923 |
137 | D>N | No |
ClinGen gnomAD |
|
|
rs1179327113 CA340685610 |
138 | E>D | No |
ClinGen TOPMed |
|
|
CA340685675 rs1258729266 |
143 | I>T | No |
ClinGen gnomAD |
|
|
CA23968954 rs920705834 |
143 | I>V | No |
ClinGen Ensembl |
|
|
rs776176790 CA896210 |
144 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163322350 CA340685702 |
145 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 146 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA896211 rs758937977 |
147 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA896212 rs764973741 |
148 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA896213 rs372325417 |
150 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA896214 rs763391918 |
151 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA340682273 rs1557508065 |
154 | R>S | No |
ClinGen Ensembl |
|
|
CA340682324 rs1396697463 |
156 | S>N | No |
ClinGen gnomAD |
|
|
rs765467631 CA896357 |
156 | S>R | No |
ClinGen ExAC gnomAD |
|
| rs757052098 | 157 | P>= | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA896358 rs752860265 |
157 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340682338 rs1385190724 |
157 | P>S | No |
ClinGen gnomAD |
|
|
CA896388 rs747646149 |
158 | R>S | No |
ClinGen ExAC gnomAD |
|
|
COSM3400966 COSM2150284 CA896389 rs556202457 |
159 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA896390 rs200789505 |
159 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340683799 rs200789505 |
159 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs17855645 CA340683810 |
161 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_027299 rs17855645 CA896392 |
161 | P>Q | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
COSM3977822 COSM3977823 rs747363838 CA896391 |
161 | P>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA340685219 rs1271470639 |
162 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA896404 rs755026436 |
163 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs755026436 CA896403 |
163 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1238760121 CA340685272 |
164 | I>V | No |
ClinGen TOPMed |
|
|
CA340685327 rs1571581223 |
166 | R>K | No |
ClinGen Ensembl |
|
|
rs1557554293 CA340685355 |
167 | N>D | No |
ClinGen Ensembl |
|
|
rs372437811 CA340685394 |
167 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372437811 CA896405 |
167 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777313692 COSM78478 CA896407 |
168 | L>F | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs757886126 CA896406 |
168 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1364676334 CA340685477 |
169 | S>C | No |
ClinGen gnomAD |
|
|
COSM1639948 CA896424 COSM1639949 rs762373849 |
172 | E>D | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA340685888 rs1417460082 |
174 | A>S | No |
ClinGen TOPMed |
|
|
rs1165371097 CA340685925 |
176 | P>A | No |
ClinGen TOPMed |
|
|
CA896428 rs561284431 |
178 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561284431 CA896429 |
178 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373835742 CA896430 |
178 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373835742 CA896431 |
178 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373835742 CA340685970 |
178 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769041939 CA896433 |
179 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896436 rs748156773 |
186 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340686777 rs1482974068 |
188 | K>T | No |
ClinGen TOPMed |
|
|
CA896458 rs772231202 |
192 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA340686846 rs1319666693 |
194 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA896459 rs778155276 |
195 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896460 rs778155276 |
195 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749631760 CA896463 |
196 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA896462 rs775402707 |
196 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA23955325 rs749631760 |
196 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA896464 rs768667281 |
197 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896465 rs142151342 |
198 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1034323760 CA23955349 |
199 | P>L | No |
ClinGen Ensembl |
|
|
CA896466 rs761322211 |
200 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA340686921 rs1172752712 |
203 | P>L | No |
ClinGen gnomAD |
|
|
rs1398120599 CA340686957 |
206 | E>D | No |
ClinGen gnomAD |
|
|
rs1446175168 CA340686959 |
207 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 209 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372443798 CA340686999 |
209 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs772709190 CA340687029 |
210 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA340687022 rs1402337897 |
210 | D>G | No |
ClinGen TOPMed |
|
|
CA340687043 rs1434755926 |
211 | E>V | No |
ClinGen gnomAD |
|
|
CA896470 rs765928425 |
212 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 212 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA896471 rs754272255 |
213 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896497 rs570677786 |
217 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA896498 rs764663195 |
218 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA896500 rs372401366 |
219 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA896499 rs751718785 |
219 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 220 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA23958007 rs967718173 |
221 | P>L | No |
ClinGen Ensembl |
|
|
rs1360435344 CA340688112 |
222 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA23958017 rs979762606 |
224 | W>R | No |
ClinGen Ensembl |
|
|
CA340688135 rs1397064850 |
225 | G>S | No |
ClinGen gnomAD |
|
|
rs376345149 CA896501 |
228 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340688181 rs1341702438 |
232 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA896502 rs750540778 |
233 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs756351136 CA896503 |
234 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA896504 rs539368139 |
235 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA896505 rs747920514 |
236 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA23958031 rs1033012457 |
237 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs777650217 CA896507 |
238 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs770290822 CA896509 |
240 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA340688243 rs1571680745 |
241 | R>S | No |
ClinGen Ensembl |
|
|
rs1351966348 CA340688248 |
242 | P>L | No |
ClinGen TOPMed |
|
|
CA896510 rs570718750 |
242 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896511 rs570718750 |
242 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896512 rs553316752 |
245 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 245 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 245 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340688894 rs1387131307 |
248 | P>L | No |
ClinGen gnomAD |
|
|
rs1305467681 CA340688965 |
251 | L>Q | No |
ClinGen Ensembl |
|
|
CA896528 rs745351932 |
254 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA896529 rs769360754 |
256 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs775233460 CA896530 |
258 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA340689166 rs1196888780 |
260 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs763420416 CA896532 |
260 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896531 rs763420416 |
260 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340689181 rs1193149870 |
261 | P>L | No |
ClinGen gnomAD |
|
|
CA23959981 rs1037248795 |
261 | P>S | No |
ClinGen Ensembl |
|
|
CA896534 rs539336866 |
262 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768049895 CA896535 |
263 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1426472135 CA340689209 |
263 | T>I | No |
ClinGen gnomAD |
|
|
CA23959995 rs898669863 |
264 | G>V | No |
ClinGen Ensembl |
|
|
CA896536 rs557455868 |
266 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1167784536 CA340689251 |
266 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766613506 CA896538 |
269 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA896537 rs760769944 |
269 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA340689302 rs760769944 |
269 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA340689294 rs1319298880 |
269 | I>V | No |
ClinGen Ensembl |
|
|
rs1553149992 COSM682366 COSM682367 CA340689317 |
270 | G>E | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA896539 rs754002247 |
271 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340690707 rs1381889159 |
272 | G>E | No |
ClinGen gnomAD |
|
|
CA340690741 rs776799305 |
274 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896561 rs200448352 |
275 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM72617 CA340690781 rs1359709055 |
277 | A>D | lung ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 277 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750305706 CA340690817 |
279 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896563 rs374600239 |
280 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759723604 CA896564 |
282 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1311780722 CA340690889 |
284 | K>N | No |
ClinGen gnomAD |
|
|
CA340690911 rs1348927066 |
286 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 286 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs892443657 CA23961399 |
288 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340690940 rs748485959 |
289 | N>S | No |
ClinGen ExAC TOPMed |
|
|
CA896568 rs748485959 |
289 | N>T | No |
ClinGen ExAC TOPMed |
|
|
rs564602213 CA23961425 CA896571 |
291 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772427174 CA896570 |
291 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557603840 CA340690996 |
293 | S>T | No |
ClinGen Ensembl |
|
|
rs771414530 CA896572 |
294 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211608304 CA340691031 |
295 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 297 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA896574 rs759572282 |
298 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA896573 rs538372181 |
298 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340691078 rs1178811454 |
299 | L>F | No |
ClinGen gnomAD |
|
|
CA23961455 rs751366898 |
300 | S>C | No |
ClinGen gnomAD |
|
|
rs751366898 CA340691088 |
300 | S>F | No |
ClinGen gnomAD |
|
|
COSM1225508 CA340691083 rs1239668149 |
300 | S>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA896576 rs200164591 |
302 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761517161 CA896577 |
303 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1466230396 CA340691137 |
304 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA340691129 rs1405392486 |
304 | V>I | No |
ClinGen gnomAD |
|
|
CA23961478 rs371964061 |
305 | A>P | No |
ClinGen Ensembl |
|
|
CA340691156 rs1571752543 |
306 | V>A | No |
ClinGen Ensembl |
|
|
CA896578 rs767409752 |
306 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA340691166 rs1359028642 |
307 | N>S | No |
ClinGen TOPMed |
|
|
CA896579 rs140280425 |
308 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA896580 rs760740400 |
309 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA896581 rs766391289 |
312 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370202592 CA340691222 |
313 | V>A | No |
ClinGen gnomAD |
|
|
CA23961527 rs889362365 |
313 | V>F | No |
ClinGen Ensembl |
|
|
rs1365582162 CA340691224 |
314 | H>N | No |
ClinGen TOPMed |
|
| TCGA novel | 314 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA896583 rs754491851 |
315 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs752328605 CA896585 |
316 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA23961533 rs1007704168 |
317 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 317 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268252690 CA340691254 |
318 | T>A | No |
ClinGen TOPMed |
|
|
rs1019099460 CA23961535 |
318 | T>I | No |
ClinGen Ensembl |
|
|
rs72669494 CA896588 |
320 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA896591 rs745958378 |
321 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896590 rs781628066 |
321 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs769843697 CA896592 |
322 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896593 rs368180887 |
323 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA896594 rs763289150 |
325 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760475742 CA896597 |
327 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA896599 rs773096121 |
329 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs773096121 CA340691322 |
329 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA896600 rs760509592 |
330 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs759126100 CA896603 |
332 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA896604 rs759126100 |
332 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 333 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA896606 rs758121097 |
334 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA896608 rs751942095 |
335 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896609 rs751942095 |
335 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340691355 rs1490773112 |
335 | S>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 336 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372346395 CA896611 |
337 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA896610 rs781666530 |
337 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA340691364 rs781666530 |
337 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs942292353 CA23961631 |
340 | P>L | No |
ClinGen TOPMed |
|
|
rs755722876 CA896612 |
342 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378347635 CA340691405 |
343 | P>L | No |
ClinGen TOPMed |
|
|
CA340691400 rs1195776303 |
343 | P>T | No |
ClinGen gnomAD |
|
|
CA340691412 rs1371344619 |
345 | D>N | No |
ClinGen gnomAD |
|
|
CA896613 rs780227138 |
346 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476993504 CA340691429 |
347 | P>R | No |
ClinGen TOPMed |
|
|
CA896614 rs749293354 |
350 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs760564678 CA896617 |
351 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs774669304 CA896616 |
351 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA896618 rs770786476 |
352 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA896621 rs148084183 |
353 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340691495 rs1169960553 |
354 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA896623 rs775107695 |
354 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896624 rs775107695 |
354 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751146370 CA896626 |
355 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA896627 rs756897528 |
356 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23961743 rs756897528 |
356 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750759852 CA896629 COSM138204 |
357 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs767924090 CA896628 |
357 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA896630 rs537403333 |
358 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780382057 CA896631 |
359 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 359 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA23961784 rs939451667 |
361 | P>S | No |
ClinGen Ensembl |
|
|
rs1313733423 CA340691593 |
363 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1442945708 CA340691611 |
364 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA896632 rs749410342 |
364 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163177129 CA340691619 |
365 | G>E | No |
ClinGen gnomAD |
|
|
CA896634 rs779285870 |
366 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA896635 rs200198287 |
367 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896636 rs150615865 |
368 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3386312 rs143518805 COSM682364 CA896637 |
368 | R>H | lung Variant assessed as Somatic; 0.0 impact. pancreas [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA340691656 rs143518805 |
368 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1384385054 CA340691662 |
369 | N>Y | No |
ClinGen gnomAD |
|
|
rs112765681 CA896638 |
371 | L>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs559963198 CA23961864 |
372 | S>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA340691706 rs559963198 |
372 | S>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA896640 rs775231208 |
373 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340691734 rs1346898043 |
375 | N>S | No |
ClinGen gnomAD |
|
|
rs773836992 CA896643 |
377 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896642 rs763660406 |
377 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA896644 rs761499666 |
379 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs767122206 CA896645 |
381 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750814976 CA896646 |
383 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750814976 CA340691788 |
383 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896649 rs766925272 |
384 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766925272 CA896648 |
384 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332294422 CA340691808 |
386 | Q>R | No |
ClinGen TOPMed |
|
|
CA896650 rs202142149 |
387 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA896652 rs202142149 |
387 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA896651 rs202142149 |
387 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778102405 CA896654 |
388 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA340691817 rs1458246714 |
388 | F>Y | No |
ClinGen TOPMed |
|
|
CA896655 rs562323083 |
389 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769405791 CA896656 |
391 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1392901334 CA340691836 |
391 | D>N | No |
ClinGen gnomAD |
|
|
CA340691845 rs1386955618 |
392 | D>Y | No |
ClinGen TOPMed |
|
|
rs372652736 CA896657 |
393 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1037938049 CA23962001 |
394 | L>F | No |
ClinGen TOPMed |
|
|
rs1571758495 CA340691870 |
395 | E>V | No |
ClinGen Ensembl |
|
|
rs749240200 CA896658 COSM535912 |
396 | T>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA896660 rs773886267 |
398 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA896662 rs141088608 |
400 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA896663 rs141088608 |
400 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA896661 rs761270779 |
400 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481776260 CA340691909 |
401 | K>E | No |
ClinGen gnomAD |
|
|
CA340691961 rs1194310428 |
403 | F>L | No |
ClinGen gnomAD |
|
|
CA340691965 rs139242055 |
404 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs139242055 CA896664 |
404 | G>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA896666 rs754221138 |
408 | R>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1503413 COSM3728299 rs531131210 CA896667 |
409 | A>E | lung Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs765809036 CA896668 |
410 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896670 rs752857042 |
410 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752857042 CA896669 |
410 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23962075 rs369259312 |
414 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA340692136 rs369259312 |
414 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA896674 rs779762396 |
415 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs200345369 CA896673 |
415 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 416 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285081780 CA340692165 |
416 | P>S | No |
ClinGen gnomAD |
|
|
rs1343634994 CA340692176 |
417 | P>T | No |
ClinGen gnomAD |
|
|
CA896675 rs199887082 |
424 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA896678 rs747667779 |
425 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA340692343 rs1557608580 |
426 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 427 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA896681 rs375315309 CA896680 |
427 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA23962132 rs367882700 |
429 | G>D | No |
ClinGen ESP |
|
|
CA896682 rs144225226 |
430 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144225226 CA896683 |
430 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765868119 CA340692397 |
431 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896685 rs765868119 |
431 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340692406 rs1383790445 |
431 | G>V | No |
ClinGen gnomAD |
|
|
rs1557608913 CA340692421 |
433 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA896687 rs139418191 |
434 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA896688 rs139418191 |
434 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751636169 CA896689 |
436 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA896720 rs769548033 |
439 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1260865538 CA340694748 |
440 | A>E | No |
ClinGen gnomAD |
|
|
CA896722 rs749626701 |
442 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1009397883 CA23970444 |
443 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 445 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA23970479 rs542858072 |
445 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA23970471 rs542858072 |
445 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs1021479476 CA23970494 |
448 | T>I | No |
ClinGen TOPMed |
|
|
CA896725 rs761801425 |
451 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA896726 rs573516641 |
452 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340694899 rs1571863107 |
453 | C>Y | No |
ClinGen Ensembl |
|
|
rs1410680245 CA340695025 |
462 | P>L | No |
ClinGen gnomAD |
|
|
CA896728 rs760939997 |
463 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 464 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372927369 CA896731 |
464 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM682359 CA896730 rs766560453 COSM682358 |
464 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA896732 rs758164085 |
465 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA340695046 rs1557637445 |
467 | S>P | No |
ClinGen Ensembl |
|
|
rs756884311 CA896734 |
468 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896733 rs376861429 |
468 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1214866121 CA340695059 |
469 | P>L | No |
ClinGen gnomAD |
|
|
CA340695071 rs1343708827 |
471 | L>P | No |
ClinGen gnomAD |
|
|
rs757125971 CA896735 |
472 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190736881 CA23970562 |
473 | P>A | No |
ClinGen 1000Genomes |
|
|
CA340695086 rs1274735625 |
474 | G>E | No |
ClinGen gnomAD |
|
|
rs780896579 CA896736 |
476 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1483050207 CA340695120 |
480 | D>N | No |
ClinGen TOPMed |
|
|
rs201491139 CA896752 |
482 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 487 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA23971301 rs974575029 |
488 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 490 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA896754 rs751288577 |
490 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA896753 rs764006201 |
490 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 491 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761849833 CA896755 |
492 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA896757 rs749972011 |
495 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs749972011 CA340695231 |
495 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs374477039 CA23971336 |
495 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA896759 COSM1503409 rs779853610 COSM1503410 |
497 | I>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA896758 rs755623498 |
497 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1571874977 CA340695248 |
498 | A>V | No |
ClinGen Ensembl |
|
|
CA896760 rs753590678 |
499 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1324185004 CA340695269 |
502 | R>Q | No |
ClinGen gnomAD |
|
|
rs779386487 CA896762 |
502 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA896763 rs748434442 |
503 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA340695293 rs377722823 |
506 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA896764 rs377722823 |
506 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1225512 COSM1225511 CA23971405 rs748359882 |
510 | S>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs747106857 CA23971419 |
512 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1351390442 CA340695329 |
512 | T>N | No |
ClinGen gnomAD |
|
|
CA896766 rs747106857 |
512 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340695351 rs1374998940 |
515 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs759754678 CA340695359 |
516 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896768 rs767772421 |
517 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA896769 rs767772421 |
517 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 519 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292057766 CA340695388 |
521 | P>L | No |
ClinGen gnomAD |
|
|
CA896770 rs769874669 |
522 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs940737770 CA23971448 |
523 | V>A | No |
ClinGen Ensembl |
|
|
rs757586525 CA896842 |
524 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA896844 rs201149984 |
528 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141176864 CA896846 |
531 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1484895916 CA340697024 |
533 | F>S | No |
ClinGen TOPMed |
|
|
CA896847 rs779281923 |
534 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA340697036 rs1235469548 |
535 | R>G | No |
ClinGen gnomAD |
|
|
rs557587537 CA896848 |
536 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340678621 rs1482001229 |
550 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 552 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251346925 CA340678655 |
553 | T>S | No |
ClinGen TOPMed |
|
|
CA340678664 rs1481483980 |
554 | M>V | No |
ClinGen gnomAD |
|
|
COSM682352 CA896865 rs368153315 COSM682353 |
556 | A>G | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed |
|
CA23942143 rs913570468 |
556 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs764326176 CA896867 |
558 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA23942184 rs979309967 |
560 | L>I | No |
ClinGen Ensembl |
|
|
rs746696777 CA23942191 |
562 | V>L | No |
ClinGen TOPMed |
|
|
rs1409698719 CA340678875 |
564 | A>V | No |
ClinGen gnomAD |
|
|
rs1345556779 CA340678981 |
570 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA340679011 rs1438043999 |
571 | N>S | No |
ClinGen gnomAD |
|
|
CA896873 rs778433825 |
573 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs747652752 CA896874 |
574 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA23942223 rs17854026 VAR_027300 |
575 | K>E | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA340679112 rs1339843314 |
576 | G>R | No |
ClinGen gnomAD |
|
|
rs375924912 CA23942247 |
577 | A>P | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 577 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs566641355 CA896875 |
578 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1292473241 CA340679185 |
578 | D>G | No |
ClinGen gnomAD |
|
|
rs1204314513 CA340679177 |
578 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA896876 rs772864280 |
579 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23948288 rs559144967 |
582 | C>R | No |
ClinGen Ensembl |
|
|
CA340681599 rs1439117656 |
582 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 582 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375102916 CA896892 |
583 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA340681612 rs1277997612 |
583 | I>V | No |
ClinGen gnomAD |
|
|
CA896893 rs140842296 |
584 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781205655 CA23948325 |
585 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA340681689 rs1386086296 |
590 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1433909188 CA340681696 |
591 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA340681694 rs1433909188 |
591 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs532647612 CA896896 |
592 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 593 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA23948331 rs1031352948 |
596 | A>V | No |
ClinGen TOPMed |
|
|
rs1283563801 CA340681749 |
599 | T>I | No |
ClinGen gnomAD |
|
|
CA340681770 rs1351460516 |
602 | F>C | No |
ClinGen gnomAD |
|
|
rs746198900 CA896899 |
603 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA23948340 rs746198900 COSM133944 |
603 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs775995652 CA896901 |
606 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1391734129 CA340681795 |
606 | P>S | No |
ClinGen TOPMed |
|
|
CA23948348 rs1031939262 |
607 | S>Y | No |
ClinGen gnomAD |
|
|
CA896903 rs553435968 |
609 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340681829 rs1458141599 |
612 | T>I | No |
ClinGen TOPMed |
|
|
CA896905 rs762062091 |
613 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767684600 CA896906 |
614 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM911741 COSM911742 CA23948368 rs373240389 |
614 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
CA340681842 rs1212996707 |
615 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1179886025 CA340681853 |
616 | I>T | No |
ClinGen TOPMed |
|
|
CA340681869 rs1409145612 |
618 | F>L | No |
ClinGen gnomAD |
|
|
rs145638797 CA896908 |
619 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1337017448 CA340681876 |
619 | S>R | No |
ClinGen gnomAD |
|
|
rs1394119036 CA340681882 |
620 | R>S | No |
ClinGen gnomAD |
|
|
CA896909 rs765093165 |
620 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs758255665 CA896911 |
624 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA896914 rs757004440 |
627 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1200310456 CA340681950 |
631 | L>I | No |
ClinGen gnomAD |
|
|
CA23948450 rs909810328 |
632 | C>S | No |
ClinGen TOPMed |
|
|
CA896935 rs780507075 |
633 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA896937 rs749576097 |
636 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA23951655 rs947780159 |
638 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769227081 CA896938 |
639 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs553703666 CA23951664 |
640 | A>D | No |
ClinGen gnomAD |
|
|
rs150756455 CA896940 |
641 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772209281 CA896941 |
642 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs773268019 CA896942 |
644 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 645 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340682670 rs1297499100 |
647 | V>A | No |
ClinGen gnomAD |
|
|
CA340682688 rs1360707892 |
649 | M>T | No |
ClinGen gnomAD |
|
|
rs376135937 CA896943 |
650 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 651 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340682770 rs771030760 |
655 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 657 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340682812 rs1451093086 |
659 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1248325214 CA340682805 |
659 | V>M | No |
ClinGen gnomAD |
|
|
rs762610173 CA896946 |
662 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424276919 CA340682867 |
664 | P>T | No |
ClinGen gnomAD |
|
|
rs764108792 CA896947 |
666 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA23951724 rs997866413 |
667 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1433170410 CA340682954 |
671 | V>A | No |
ClinGen gnomAD |
|
|
CA896950 rs140384550 |
671 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA23955775 rs895091802 |
678 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA340683917 rs895091802 |
678 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1182836137 CA340683945 |
680 | A>V | No |
ClinGen gnomAD |
|
|
rs1471681302 CA340683994 |
682 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA23955788 rs367994546 |
683 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs952153290 CA23955789 |
683 | I>S | No |
ClinGen TOPMed |
|
|
CA896988 rs367994546 |
683 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340684072 rs1174327813 |
686 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA340684091 rs1430911110 |
687 | P>L | No |
ClinGen gnomAD |
|
|
rs966036956 CA23955800 |
693 | N>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 694 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336965913 CA340684216 |
695 | R>Q | No |
ClinGen TOPMed |
|
|
rs776185406 CA896993 |
696 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340684246 rs1557818689 |
697 | E>D | No |
ClinGen Ensembl |
|
|
CA896994 rs759152550 |
697 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA340684255 rs1367781080 |
698 | P>L | No |
ClinGen gnomAD |
|
|
rs922176964 CA23955828 |
698 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 700 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA23955839 rs953781954 |
702 | D>E | No |
ClinGen TOPMed |
|
|
rs990331545 CA23955844 |
703 | L>V | No |
ClinGen TOPMed |
|
|
rs914760101 CA23955870 |
704 | R>C | No |
ClinGen TOPMed |
|
|
rs760325669 CA340684312 |
704 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs760325669 CA23955876 |
704 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs372222945 CA896996 |
705 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA340684359 rs1225152630 |
708 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 711 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 711 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340684405 rs373637788 |
712 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373637788 CA896998 |
712 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752060294 CA896999 |
713 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs757757120 CA897000 |
713 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546225329 COSM911745 COSM911746 CA897001 |
715 | T>M | Variant assessed as Somatic; 9.24e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA340684452 rs1189727916 |
720 | L>F | No |
ClinGen gnomAD |
|
|
rs1450532616 CA340684500 |
727 | V>I | No |
ClinGen gnomAD |
|
|
rs1572461648 CA340684507 |
728 | P>A | No |
ClinGen Ensembl |
|
|
rs747960966 CA897005 |
728 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA340684516 rs140620789 |
729 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs753572285 CA340684522 |
730 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA897006 rs138254798 |
730 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746968981 CA897008 |
731 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777612087 CA897007 |
731 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA897009 rs770871789 |
732 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA340684536 rs1272757655 |
733 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs776037028 CA897010 |
734 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs759000313 CA897011 |
735 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA340684556 rs1299555894 |
736 | L>R | No |
ClinGen gnomAD |
|
|
rs925351930 CA23955980 |
739 | V>M | No |
ClinGen TOPMed |
|
|
CA897012 rs769451819 |
744 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA340684601 rs1480111170 |
744 | V>L | No |
ClinGen TOPMed |
|
|
CA23956892 rs371975465 |
746 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1202477780 CA340685175 |
747 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 747 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA897033 rs376559229 |
751 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201675253 CA897034 |
753 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767913295 CA897035 |
756 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA897037 rs767913295 |
756 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA897036 rs767913295 |
756 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 758 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766616859 CA897038 |
759 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 762 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416555524 CA340685566 |
764 | E>D | No |
ClinGen gnomAD |
|
|
CA340685600 rs1367974120 |
766 | G>* | No |
ClinGen TOPMed |
|
|
rs1249472061 CA340685713 |
768 | V>A | No |
ClinGen TOPMed |
|
|
CA340685710 rs1351156408 |
768 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs761305056 CA340685730 |
769 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23957342 rs935053825 |
769 | G>C | No |
ClinGen gnomAD |
|
|
rs761305056 CA897056 |
769 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761305056 CA340685728 |
769 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23957345 rs989213503 |
770 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 771 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA23957347 rs867434606 |
773 | A>E | No |
ClinGen gnomAD |
|
|
rs867434606 CA340685786 |
773 | A>V | No |
ClinGen gnomAD |
|
|
CA897057 rs149287324 |
774 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1299668755 CA340685816 |
775 | F>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 776 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776874749 CA897058 |
776 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA23957372 rs914942128 |
780 | G>V | No |
ClinGen Ensembl |
|
|
rs765385376 CA897060 |
781 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA340685950 rs1234610220 |
782 | S>G | No |
ClinGen gnomAD |
|
|
CA897061 rs753033797 |
782 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs535171232 CA897062 |
783 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340685973 rs1276052411 |
783 | K>R | No |
ClinGen gnomAD |
|
|
rs767337024 CA340685982 |
784 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA897063 rs767337024 |
784 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA340686006 rs1243400203 |
785 | S>C | No |
ClinGen Ensembl |
|
|
rs750174265 CA897064 |
786 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 786 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 786 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs931632362 CA23957418 |
788 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA897066 rs143541432 |
789 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA340686104 rs1572484979 |
790 | Q>L | No |
ClinGen Ensembl |
|
| TCGA novel | 795 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572485008 CA340686186 |
796 | S>C | No |
ClinGen Ensembl |
|
|
CA340686188 rs1452395642 |
796 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 797 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572485088 CA340686238 |
800 | G>V | No |
ClinGen Ensembl |
|
|
TCGA novel rs1371020484 CA340686239 |
801 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA897067 rs753349434 |
802 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778273076 CA897069 |
804 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA897068 rs754580716 |
804 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340686308 rs1387537394 |
806 | V>F | No |
ClinGen gnomAD |
|
|
CA897070 rs199839360 |
808 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1329700380 CA340686366 |
811 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1329700380 CA340686364 |
811 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA340686400 rs1572485312 |
814 | L>P | No |
ClinGen Ensembl |
|
|
rs747331285 CA897073 |
815 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA897074 rs771579559 |
816 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA340686437 rs1249067130 |
817 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340686453 rs1480048510 |
818 | R>S | No |
ClinGen gnomAD |
|
|
rs377727188 CA897076 |
821 | A>G | No |
ClinGen ESP ExAC |
|
|
rs866082520 CA23958750 |
822 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1391259890 CA340687068 |
827 | D>N | No |
ClinGen gnomAD |
|
|
rs1429133682 CA340687084 |
827 | D>V | No |
ClinGen gnomAD |
|
|
rs762880644 CA897098 |
829 | N>S | No |
ClinGen ExAC |
No associated diseases with Q9BQI5
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| AP-2 adaptor complex | A heterotetrameric AP-type membrane coat adaptor complex that consists of alpha, beta2, mu2 and sigma2 subunits, and links clathrin to the membrane surface of a vesicle, and the cargo receptors during receptor/clathrin mediated endocytosis. Vesicles with AP-2-containing coats are normally found primarily near the plasma membrane, on endocytic vesicles. In at least humans, the AP-2 complex can be heterogeneric due to the existence of multiple subunit isoforms encoded by different alpha genes (alphaA and alphaC). |
| clathrin-coated pit | A part of the endomembrane system in the form of an invagination of a membrane upon which a clathrin coat forms, and that can be converted by vesicle budding into a clathrin-coated vesicle. Coated pits form on the plasma membrane, where they are involved in receptor-mediated selective transport of many proteins and other macromolecules across the cell membrane, in the trans-Golgi network, and on some endosomes. |
| clathrin-coated vesicle | A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
| SH3 domain binding | Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| clathrin coat assembly | The process that results in the assembly of clathrin triskelia into the ordered structure known as a clathrin cage. |
| clathrin-dependent endocytosis | An endocytosis process that begins when material is taken up into clathrin-coated pits, which then pinch off to form clathrin-coated endocytic vesicles. |
| energy homeostasis | Any process involved in the balance between food intake (energy input) and energy expenditure. |
| positive regulation of feeding behavior | Any process that activates or increases the frequency, rate or extent of feeding behavior. |
| positive regulation of receptor-mediated endocytosis | Any process that activates or increases the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. |
| response to dietary excess | The physiological process in which dietary excess is sensed by the central nervous system, resulting in a reduction in food intake and increased energy expenditure. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q05080 | HOF1 | Cytokinesis protein 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q9H939 | PSTPIP2 | Proline-serine-threonine phosphatase-interacting protein 2 | Homo sapiens (Human) | PR |
| O60861 | GAS7 | Growth arrest-specific protein 7 | Homo sapiens (Human) | PR |
| P97814 | Pstpip1 | Proline-serine-threonine phosphatase-interacting protein 1 | Mus musculus (Mouse) | PR |
| Q60780 | Gas7 | Growth arrest-specific protein 7 | Mus musculus (Mouse) | PR |
| Q99M15 | Pstpip2 | Proline-serine-threonine phosphatase-interacting protein 2 | Mus musculus (Mouse) | PR |
| Q8VD37 | Sgip1 | SH3-containing GRB2-like protein 3-interacting protein 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMEGLKKRTR | KAFGIRKKEK | DTDSTGSPDR | DGIQPSPHEP | PYNSKAECAR | EGGKKVSKKS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NGAPNGFYAE | IDWERYNSPE | LDEEGYSIRP | EEPGSTKGKH | FYSSSESEEE | EESHKKFNIK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IKPLQSKDIL | KNAATVDELK | ASIGNIALSP | SPVRKSPRRS | PGAIKRNLSS | EEVARPRRST |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PTPELISKKP | PDDTTALAPL | FGPPLESAFD | EQKTEVLLDQ | PEIWGSGQPI | NPSMESPKLT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RPFPTGTPPP | LPPKNVPATP | PRTGSPLTIG | PGNDQSATEV | KIEKLPSIND | LDSIFGPVLS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PKSVAVNAEE | KWVHFSDTSP | EHVTPELTPR | EKVVSPPATP | DNPADSPAPG | PLGPPGPTGP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PGPPGPPRNV | LSPLNLEEVQ | KKVAEQTFIK | DDYLETISSP | KDFGLGQRAT | PPPPPPPTYR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TVVSSPGPGS | GPGPGTTSGA | SSPARPATPL | VPCRSTTPPP | PPPRPPSRPK | LPPGKPGVGD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VSRPFSPPIH | SSSPPPIAPL | ARAESTSSIS | STNSLSAATT | PTVENEQPSL | VWFDRGKFYL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TFEGSSRGPS | PLTMGAQDTL | PVAAAFTETV | NAYFKGADPS | KCIVKITGEM | VLSFPAGITR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HFANNPSPAA | LTFRVINFSR | LEHVLPNPQL | LCCDNTQNDA | NTKEFWVNMP | NLMTHLKKVS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EQKPQATYYN | VDMLKYQVSA | QGIQSTPLNL | AVNWRCEPSS | TDLRIDYKYN | TDAMTTAVAL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NNVQFLVPID | GGVTKLQAVL | PPAVWNAEQQ | RILWKIPDIS | QKSENGGVGS | LLARFQLSEG |
| 790 | 800 | 810 | 820 | ||
| PSKPSPLVVQ | FTSEGSTLSG | CDIELVGAGY | RFSLIKKRFA | AGKYLADN |