Q0IIM8
PR
Gene name |
TBC1D8B |
Protein name |
TBC1 domain family member 8B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54885 |
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 Q0IIM8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q0IIM8-F1 | Predicted | AlphaFoldDB |
658 variants for Q0IIM8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10482908 rs748413985 RCV001312058 |
64 | R>C | Variant assessed as Somatic; 0.0 impact. Nephrotic syndrome, type 20 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_082286 CA10483003 RCV000787301 rs761410195 |
246 | Q>H | Nephrotic syndrome, type 20 NPHS20; rescues only partially glomerular filtration defects in tbc1d8b knockout fish; defective vesicular trafficking in podocytes [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1602413491 VAR_082287 RCV000787302 CA413824135 |
291 | F>S | Nephrotic syndrome, type 20 NPHS20; exhibits intracellular vesicular localization; rescues only partially glomerular filtration defects in tbc1d8b knockout fish; reduced podocyte migration; defective vesicular trafficking in podocytes [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001254679 rs1223251037 CA413801152 |
439 | F>C | Nephrotic syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10483126 rs772540800 RCV001312059 |
461 | W>* | Nephrotic syndrome, type 20 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1363652416 RCV001312057 |
780 | T>S | Nephrotic syndrome, type 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10482866 rs759102989 |
3 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs752682663 CA333032266 |
6 | E>G | No |
ClinGen Ensembl |
|
|
CA413811448 rs1265786428 |
8 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 12 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10482867 rs769365907 |
12 | N>T | No |
ClinGen ExAC gnomAD |
|
|
COSM3747234 CA333032270 rs868668035 COSM3747233 |
13 | A>V | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA413811610 rs1186428332 |
16 | L>P | No |
ClinGen TOPMed |
|
|
CA10482868 rs775150428 |
17 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 19 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA333032313 rs958881504 |
19 | M>V | No |
ClinGen TOPMed |
|
|
rs138429712 CA10482869 |
21 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs993026864 CA333032344 |
22 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs917627852 CA333032346 |
23 | N>D | No |
ClinGen TOPMed |
|
|
rs1318344576 CA413811766 |
23 | N>S | No |
ClinGen TOPMed |
|
|
rs751993804 CA10482871 |
24 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1249150321 CA413811844 |
27 | V>L | No |
ClinGen gnomAD |
|
|
rs1412885190 CA413811889 |
29 | Q>P | No |
ClinGen TOPMed |
|
|
CA10482872 rs762220474 |
30 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 30 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10482873 rs768127642 |
31 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA413811944 rs1473369473 |
32 | R>L | No |
ClinGen gnomAD |
|
|
rs750410955 CA10482874 |
33 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1406112485 CA413811961 |
33 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413812011 rs1389211340 |
35 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs756295158 CA10482876 |
35 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170316468 CA413812034 |
36 | E>Q | No |
ClinGen TOPMed |
|
|
CA10482877 rs780375144 |
37 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1466277183 CA413812135 |
38 | G>V | No |
ClinGen TOPMed |
|
|
CA413812157 rs754093308 |
40 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413812158 rs754093308 |
40 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10482878 rs754093308 |
40 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755292406 CA10482879 |
41 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300005076 CA413815129 |
45 | L>F | No |
ClinGen gnomAD |
|
|
CA10482902 rs368221083 |
47 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 48 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 51 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 53 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10482904 rs146981109 |
55 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA333038781 rs899689068 |
58 | A>S | No |
ClinGen TOPMed |
|
|
CA10482905 rs372393599 |
59 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10482906 rs372393599 |
59 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755568338 CA333038791 |
60 | V>I | No |
ClinGen Ensembl |
|
|
rs936556991 CA333038793 |
61 | A>V | No |
ClinGen Ensembl |
|
|
rs774056268 CA10482907 |
62 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 62 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375935319 CA10482909 |
64 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143630640 CA10482911 |
70 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 73 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 74 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413815561 rs1200901251 |
75 | Y>C | No |
ClinGen gnomAD |
|
|
rs1169011736 CA413815746 |
79 | A>V | No |
ClinGen gnomAD |
|
|
CA413815771 rs1456065768 |
80 | C>G | No |
ClinGen gnomAD |
|
|
rs756459601 CA10482930 |
82 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 82 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413816212 rs1433151565 |
83 | N>K | No |
ClinGen TOPMed |
|
|
CA333039154 rs999694340 |
85 | E>Q | No |
ClinGen TOPMed |
|
|
CA413816274 rs1388478952 |
86 | E>A | No |
ClinGen gnomAD |
|
|
rs1436475670 CA413816325 |
87 | I>K | No |
ClinGen gnomAD |
|
|
rs1388449010 CA413816364 |
88 | T>I | No |
ClinGen TOPMed |
|
|
CA413816415 rs1323222100 |
89 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs777314124 CA10482932 |
93 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA333039156 rs1034879248 |
93 | W>R | No |
ClinGen Ensembl |
|
|
rs769892432 CA10482934 |
98 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs138946966 CA10482936 |
106 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1267588400 CA413817381 |
113 | N>D | No |
ClinGen gnomAD |
|
|
CA10482938 rs764279698 |
116 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs750157984 CA10482940 |
118 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs751307289 CA333039180 |
119 | I>M | No |
ClinGen Ensembl |
|
|
rs1408223853 CA413818025 COSM3843126 COSM3843125 |
121 | G>R | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs758014684 CA10482947 |
123 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10482948 rs777575753 |
124 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA413818183 rs1230350446 |
126 | E>G | No |
ClinGen gnomAD |
|
|
rs747341691 CA10482949 |
127 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA413818188 rs1286206188 |
127 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs771448515 CA10482950 |
129 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs781722037 CA10482951 |
130 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 131 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 133 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746350770 CA10482952 |
134 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217357568 CA413818623 |
135 | D>E | No |
ClinGen gnomAD |
|
|
rs143259354 CA333039402 COSM109799 |
137 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs911906570 CA333039407 |
139 | K>E | No |
ClinGen TOPMed |
|
|
CA413818746 rs1300801576 |
139 | K>T | No |
ClinGen Ensembl |
|
| TCGA novel | 140 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775623397 CA10482954 |
141 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs540828946 CA333039412 |
141 | R>L | No |
ClinGen TOPMed |
|
|
rs540828946 CA413818829 |
141 | R>Q | No |
ClinGen TOPMed |
|
|
rs774586216 CA10482957 |
143 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs141400138 CA10482956 |
143 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10482958 rs150832311 |
145 | L>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10482960 rs766131934 |
150 | C>S | No |
ClinGen ExAC |
|
|
rs753700545 CA10482961 |
152 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413819382 rs1602411091 |
155 | E>Q | No |
ClinGen Ensembl |
|
|
rs758611958 CA333039429 |
156 | K>N | No |
ClinGen Ensembl |
|
|
rs1371431346 CA413819424 |
156 | K>R | No |
ClinGen gnomAD |
|
|
rs1411681376 CA413819459 |
157 | E>Q | No |
ClinGen gnomAD |
|
|
CA10482963 rs765101558 |
165 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1349337581 CA413820675 |
166 | S>G | No |
ClinGen TOPMed |
|
|
rs1273417943 CA643623303 |
167 | Y>* | No |
ClinGen gnomAD |
|
|
CA413820722 rs1205921381 |
168 | W>* | No |
ClinGen gnomAD |
|
|
CA643623305 rs1483192655 |
168 | W>* | No |
ClinGen gnomAD |
|
|
CA10482965 rs757881328 |
171 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752187400 CA10482964 |
171 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM456434 COSM1490306 CA413820797 rs1213615608 |
173 | P>H | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA413820873 rs1556347033 |
177 | W>* | No |
ClinGen Ensembl |
|
|
rs1397467523 CA413820883 |
177 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs751238183 CA10482966 |
181 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs757006485 CA10482967 |
181 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA413821035 rs1412912203 |
183 | N>S | No |
ClinGen TOPMed |
|
|
rs372013203 CA10482969 |
184 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1321906365 CA413821059 |
184 | F>L | No |
ClinGen gnomAD |
|
|
CA413821099 rs1437346319 |
186 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413821134 rs1439429149 |
187 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150021162 CA10482971 COSM1228611 COSM1228612 |
188 | Y>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10482973 rs768746269 |
191 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs374959449 CA333039467 |
191 | L>S | No |
ClinGen ESP |
|
|
CA10482976 rs772340241 |
193 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs776431738 CA10482977 |
194 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146122931 CA10482978 |
195 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 197 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10482988 rs780560303 |
199 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406998617 CA413821600 |
200 | I>T | No |
ClinGen gnomAD |
|
|
CA10482990 rs749735768 |
206 | S>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 206 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 207 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756083514 CA333039665 |
211 | T>A | No |
ClinGen 1000Genomes |
|
|
rs1324006634 CA413821826 |
214 | V>I | No |
ClinGen TOPMed gnomAD |
|
| rs759889636 | 219 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755546236 CA10482992 |
220 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA413821957 rs755546236 |
220 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 221 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748241860 CA10482994 |
222 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA413822083 rs1190077452 |
225 | Q>H | No |
ClinGen gnomAD |
|
|
rs773339487 CA10482996 |
225 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA413822208 CA413822218 rs1409831368 |
230 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1008740907 CA333039676 |
237 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA413822386 rs1444243058 |
238 | N>D | No |
ClinGen gnomAD |
|
|
CA10482998 rs769456918 |
239 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs772601210 CA10483000 |
243 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10483002 rs749148459 |
244 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10483001 rs749148459 |
244 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA413822626 rs1364455889 |
246 | Q>* | No |
ClinGen TOPMed |
|
|
rs140106583 CA10483004 |
248 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413822688 rs1227293338 |
248 | A>V | No |
ClinGen gnomAD |
|
|
rs780337633 CA333039709 |
254 | R>I | No |
ClinGen 1000Genomes |
|
|
CA413822863 rs1353499103 |
255 | L>F | No |
ClinGen gnomAD |
|
|
rs760425057 CA10483006 |
258 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10483007 rs766648793 |
259 | E>K | No |
ClinGen ExAC |
|
|
CA10483008 rs754288435 |
261 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA413823161 rs1241043504 |
264 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA413823287 rs1283659826 |
268 | Y>C | No |
ClinGen gnomAD |
|
|
CA413823382 rs1214740598 |
271 | L>V | No |
ClinGen TOPMed |
|
|
CA10483011 rs752735891 |
274 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249939571 CA413823474 |
274 | T>P | No |
ClinGen gnomAD |
|
|
rs1364247368 CA413823513 |
275 | K>R | No |
ClinGen gnomAD |
|
|
CA413823556 rs1471120981 |
276 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413823862 rs1454522197 |
277 | G>D | No |
ClinGen gnomAD |
|
|
CA413823948 rs1175312317 |
282 | A>V | No |
ClinGen gnomAD |
|
|
CA413823964 rs1387874737 |
283 | H>Q | No |
ClinGen gnomAD |
|
|
rs765686219 CA10483027 |
284 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1297063513 CA413824032 |
287 | F>C | No |
ClinGen TOPMed |
|
|
rs1397996496 CA413824084 |
289 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757778020 CA10483031 |
297 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA333040421 rs370269280 |
298 | S>N | No |
ClinGen ESP |
|
|
CA413824361 rs1372389865 |
300 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10483032 rs757359870 |
306 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146869270 CA10483033 |
308 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149013803 CA10483034 |
309 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1473468382 CA413824535 |
311 | F>L | No |
ClinGen gnomAD |
|
|
CA333040433 rs113804195 |
312 | S>G | No |
ClinGen Ensembl |
|
|
rs1354304658 CA413824548 |
313 | H>D | No |
ClinGen gnomAD |
|
|
rs375045782 CA10483035 |
314 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413824637 rs1430326092 |
320 | M>L | No |
ClinGen TOPMed |
|
|
CA10483037 rs748067173 |
320 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs772105991 CA10483038 |
321 | C>* | No |
ClinGen ExAC |
|
|
CA333040442 rs142051802 |
324 | E>* | No |
ClinGen ESP TOPMed |
|
|
rs1195195435 CA643623645 |
324 | E>D* | No |
ClinGen gnomAD |
|
|
CA413824703 rs1245960745 |
326 | Y>D | No |
ClinGen gnomAD |
|
|
CA413824721 rs1170668542 |
327 | I>T | No |
ClinGen gnomAD |
|
|
CA413824725 rs1200092392 |
328 | C>R | No |
ClinGen TOPMed |
|
|
rs1455890654 CA413824736 |
329 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1162142377 CA413796256 |
330 | A>V | No |
ClinGen gnomAD |
|
|
CA413796260 rs1395767144 |
331 | S>N | No |
ClinGen gnomAD |
|
|
rs1443740198 CA413796284 |
334 | G>D | No |
ClinGen gnomAD |
|
|
rs1333110996 CA413796289 |
335 | N>D | No |
ClinGen gnomAD |
|
|
CA413796312 rs1602413632 |
338 | S>G | No |
ClinGen Ensembl |
|
|
CA10483040 rs370947757 |
338 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10483042 rs776290218 |
339 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 343 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749688361 CA10483044 |
344 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200543143 CA10483045 |
344 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1357425842 CA413796389 |
348 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1226683593 CA413796402 |
350 | D>G | No |
ClinGen gnomAD |
|
|
rs977372603 CA413796427 |
354 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs977372603 CA333019193 |
354 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1309017533 CA413796458 |
357 | K>Q | No |
ClinGen TOPMed |
|
|
CA10483059 rs776156225 |
358 | S>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745511756 CA10483060 |
359 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994504771 CA333019209 |
360 | I>S | No |
ClinGen gnomAD |
|
|
CA413796485 COSM1464689 rs1292277481 COSM1464688 |
360 | I>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA10483061 rs769490234 |
361 | I>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1179425231 CA413796504 |
362 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA413796571 rs1420215033 |
364 | K>R | No |
ClinGen gnomAD |
|
|
rs1199551687 CA413796598 |
365 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs764471741 CA10483064 |
368 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10483063 rs763383982 |
368 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA333019232 rs769746560 COSM1331386 COSM1331385 |
370 | R>C | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs140193069 CA10483065 |
370 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA333019261 rs995721768 |
371 | F>L | No |
ClinGen Ensembl |
|
|
rs1187553121 CA413796781 |
378 | E>Q | No |
ClinGen gnomAD |
|
|
rs762277701 CA413796792 |
379 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs762277701 CA10483066 |
379 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA10483067 rs200064920 |
381 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750597893 CA10483068 |
384 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10483069 rs146944790 |
384 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758233537 CA10483072 |
389 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs752393362 CA10483071 |
389 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10483074 rs746931214 |
391 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979603307 CA333019344 |
393 | T>I | No |
ClinGen Ensembl |
|
|
CA413797059 rs1285497402 |
393 | T>S | No |
ClinGen TOPMed |
|
|
CA333019345 rs936450525 |
394 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA413797074 rs936450525 |
394 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1423734798 CA413797121 |
396 | H>L | No |
ClinGen gnomAD |
|
|
rs1179444486 CA413797116 |
396 | H>N | No |
ClinGen gnomAD |
|
|
CA333019346 rs5916769 |
396 | H>Q | No |
ClinGen Ensembl |
|
|
CA413797122 rs1423734798 |
396 | H>R | No |
ClinGen gnomAD |
|
|
rs1025911576 CA413797129 |
397 | D>N | No |
ClinGen gnomAD |
|
|
CA333019348 rs1025911576 |
397 | D>Y | No |
ClinGen gnomAD |
|
|
rs780663019 CA10483076 |
399 | S>N | No |
ClinGen ExAC |
|
|
CA413797168 rs1240226018 |
399 | S>R | No |
ClinGen TOPMed |
|
|
CA333025136 rs898553304 |
403 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs779481955 CA10483102 |
405 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs748940803 CA10483103 |
407 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA333025148 rs994216214 |
409 | T>I | No |
ClinGen Ensembl |
|
|
rs375240927 CA10483104 |
410 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10483105 rs138021287 |
413 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413800605 rs1287123755 |
413 | D>V | No |
ClinGen gnomAD |
|
|
CA413800641 rs1333585966 |
416 | E>A | No |
ClinGen gnomAD |
|
|
CA10483107 rs111863866 |
417 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748527246 CA10483106 |
417 | V>M | No |
ClinGen ExAC |
|
|
CA10483108 rs773876410 |
418 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866796275 CA333025192 |
419 | S>F | No |
ClinGen Ensembl |
|
|
CA10483109 rs146006453 |
420 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1242859859 CA413800729 |
421 | T>A | No |
ClinGen gnomAD |
|
|
rs1476516474 CA413800732 |
421 | T>K | No |
ClinGen gnomAD |
|
|
CA333025221 rs1046288423 |
423 | Q>R | No |
ClinGen TOPMed |
|
|
CA413800771 rs1417234471 |
424 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 424 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369649363 CA10483111 |
424 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759787483 CA10483112 |
428 | K>R | No |
ClinGen ExAC |
|
|
CA413800899 rs1253424383 |
429 | T>A | No |
ClinGen TOPMed |
|
|
rs1487835472 CA413800981 |
432 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 432 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761141652 CA10483116 |
438 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1602422596 CA413801260 |
442 | Q>R | No |
ClinGen Ensembl |
|
|
CA413801511 rs1284659811 |
451 | M>V | No |
ClinGen gnomAD |
|
|
rs751309827 CA333025588 |
453 | K>N | No |
ClinGen 1000Genomes |
|
|
rs1468528583 CA413801756 |
454 | E>D | No |
ClinGen gnomAD |
|
|
CA413801853 rs1408409762 |
458 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 465 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747511402 CA10483128 |
470 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10483129 rs771396487 |
470 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776711452 CA10483130 |
471 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1473016864 CA413802465 |
473 | S>G | No |
ClinGen TOPMed |
|
|
COSM1112624 rs745935519 COSM1598617 CA10483131 |
476 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM285597 CA10483132 rs749508300 |
476 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs200526006 CA10483135 |
481 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10483136 rs767271687 |
481 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1602423093 CA413802807 |
486 | R>I | No |
ClinGen Ensembl |
|
|
CA333025661 rs1046351752 |
489 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 494 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413803023 rs1180956424 |
494 | G>R | No |
ClinGen gnomAD |
|
|
CA413803064 rs1364343635 |
495 | E>G | No |
ClinGen gnomAD |
|
|
CA10483139 rs148100082 |
496 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370734738 CA10483140 CA413803163 |
498 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413803186 rs1394033177 |
499 | L>I | No |
ClinGen gnomAD |
|
|
rs375412606 CA10483161 |
502 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1326087823 COSM1112626 CA413803484 COSM1598615 |
503 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA10483163 rs368823153 |
507 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766289652 CA10483162 |
507 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1211719973 CA413803636 |
509 | T>N | No |
ClinGen gnomAD |
|
|
CA10483164 rs759556927 |
516 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1602423474 CA413803914 |
517 | V>G | No |
ClinGen Ensembl |
|
|
rs764647694 CA10483165 |
518 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA10483166 rs752310911 |
524 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs766267385 CA333026050 |
526 | N>S | No |
ClinGen 1000Genomes |
|
|
CA413804153 rs1193522106 |
527 | L>S | No |
ClinGen gnomAD |
|
|
rs758063172 CA10483167 |
527 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA413804155 rs1193522106 |
527 | L>W | No |
ClinGen gnomAD |
|
|
CA10483169 rs751928877 |
530 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA333026062 rs865892244 |
530 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs757588987 CA10483170 |
532 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1227171300 CA413804329 |
532 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 533 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10483171 rs781660437 COSM200462 |
534 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs199795712 COSM1598614 CA333026087 COSM41055 |
534 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs199795712 CA413804373 |
534 | R>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA413804418 rs1463289330 |
536 | L>* | No |
ClinGen gnomAD |
|
|
CA413804438 rs1322282118 |
537 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs201959751 CA10483172 |
537 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756713515 CA10483173 |
538 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10483174 rs780095720 |
538 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10483175 rs146079986 |
539 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413804522 rs146079986 |
539 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413804557 rs1160526056 |
540 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1168245599 CA413804582 |
542 | E>K | No |
ClinGen TOPMed |
|
|
CA413804610 rs1450322943 |
543 | H>N | No |
ClinGen TOPMed |
|
|
CA10483176 rs768799695 |
544 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA413804627 rs1353610371 |
544 | P>S | No |
ClinGen gnomAD |
|
|
rs779137693 CA10483177 |
545 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs936797666 CA333026118 |
547 | Q>H | No |
ClinGen Ensembl |
|
|
CA10483178 rs748451871 |
550 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 550 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776555337 CA10483180 |
551 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA413804837 rs1457823182 |
552 | I>M | No |
ClinGen gnomAD |
|
|
rs759375669 CA10483181 |
553 | S>P | No |
ClinGen ExAC |
|
|
rs867103545 CA333026125 |
553 | S>Y | No |
ClinGen Ensembl |
|
|
rs1053968923 CA333026126 |
554 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 556 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769864967 CA10483182 |
558 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1205320241 CA413804909 |
558 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1205320241 CA413804911 |
558 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1484374160 CA413804954 |
561 | A>D | No |
ClinGen gnomAD |
|
|
rs1186620823 CA413805057 |
566 | N>S | No |
ClinGen gnomAD |
|
|
rs775069953 CA10483183 |
568 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762580075 CA10483184 |
569 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10483185 rs371525354 |
570 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767213607 CA10483206 |
581 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1174565910 CA413807770 |
585 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 587 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA333030276 rs140087761 |
591 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1438650886 CA413807948 |
595 | L>P | No |
ClinGen TOPMed |
|
|
CA10483207 rs750689123 |
596 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440149033 CA413807957 |
596 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA413807955 rs1440149033 |
596 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10483208 rs142118116 |
598 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142118116 CA413807983 |
598 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10483209 rs766823925 |
599 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA333030310 rs1055588874 |
601 | R>* | No |
ClinGen TOPMed |
|
|
CA10483210 rs754310853 |
601 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10483211 rs755544165 |
602 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA413808100 rs1233081034 |
605 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 607 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10483212 rs765286781 |
609 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10483213 COSM1598613 rs752833105 COSM1112627 |
609 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM227963 COSM1598612 rs146374093 CA10483215 |
610 | R>Q | NS endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA413808226 rs1354799728 |
612 | I>T | No |
ClinGen TOPMed |
|
|
CA413808631 rs1490288626 |
614 | A>V | No |
ClinGen TOPMed |
|
|
CA10483253 rs150073775 |
615 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1602429510 CA413808726 |
618 | Q>R | No |
ClinGen Ensembl |
|
|
CA413808761 rs1398778389 |
620 | V>I | No |
ClinGen gnomAD |
|
|
rs1317134298 CA413808776 |
621 | F>L | No |
ClinGen gnomAD |
|
|
rs145408816 CA10483255 |
624 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1310534590 CA413808875 |
625 | I>M | No |
ClinGen gnomAD |
|
|
CA413808984 rs1315606057 |
631 | Q>H | No |
ClinGen TOPMed |
|
|
rs376661971 CA10483256 |
632 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751751586 CA10483257 |
633 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs368847725 CA10483258 |
635 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 636 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223603011 CA413809097 |
636 | M>R | No |
ClinGen gnomAD |
|
|
CA333031351 rs928959263 |
637 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs774198715 CA10483260 |
639 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754825991 CA10483261 |
641 | F>V | No |
ClinGen ExAC |
|
| TCGA novel | 643 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778624354 CA10483262 |
647 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1344650473 CA413809404 |
648 | S>F | No |
ClinGen TOPMed |
|
|
rs752674059 CA10483263 |
651 | L>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 651 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777279942 CA10483265 |
653 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10483264 rs373587471 |
653 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10483266 rs376543146 |
654 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 656 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413809632 rs1158533314 |
656 | S>R | No |
ClinGen TOPMed |
|
|
CA333031401 rs371167319 |
658 | L>I | No |
ClinGen ESP |
|
|
CA10483267 rs770527232 |
660 | I>V | No |
ClinGen ExAC |
|
|
rs780840776 CA10483268 |
665 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 666 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745566839 CA10483269 |
668 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA413809890 rs745566839 |
668 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1569454389 CA413809953 |
669 | C>S | No |
ClinGen Ensembl |
|
|
rs373285363 CA10483270 |
672 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs775787604 CA10483271 |
676 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1396136655 CA413810275 |
677 | A>V | No |
ClinGen gnomAD |
|
|
CA413810356 rs1414555515 |
680 | Q>* | No |
ClinGen TOPMed |
|
|
CA413810520 rs1467469854 |
684 | A>V | No |
ClinGen gnomAD |
|
|
rs201021261 CA333031511 |
688 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs140854756 CA10483272 |
688 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1569454403 CA413810668 |
690 | L>* | No |
ClinGen Ensembl |
|
| TCGA novel | 690 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769061961 CA10483273 COSM1112628 |
690 | L>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1002679987 CA333031549 |
691 | D>N | No |
ClinGen Ensembl |
|
|
rs1232345013 CA413810763 |
694 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA10483275 rs762016386 |
695 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762934379 CA333031551 |
696 | C>S | No |
ClinGen Ensembl |
|
|
rs1034203199 CA333031564 |
697 | K>R | No |
ClinGen Ensembl |
|
|
CA10483276 COSM1112629 rs767799462 |
700 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10483277 rs772581027 |
704 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242023693 CA413811119 |
705 | A>T | No |
ClinGen TOPMed |
|
|
CA10483278 rs760848398 |
705 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10483280 rs752446427 |
706 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 706 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413811165 rs1181065808 |
708 | R>G | Variant assessed as Somatic; 7.027e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1112630 rs1268476628 CA413812289 |
709 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs769167872 CA10483290 |
712 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs149271926 CA10483289 |
712 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1265410622 CA413812406 |
714 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 716 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190665852 CA413812537 |
717 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 719 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 719 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA333033121 rs1035251429 |
722 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA10483292 rs147370648 |
723 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413812715 rs147370648 |
723 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1206993981 CA413812746 |
724 | V>I | No |
ClinGen TOPMed |
|
|
rs1200629502 CA413812943 |
727 | G>D | No |
ClinGen gnomAD |
|
|
CA413813084 rs1342167978 |
732 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA413813183 rs1241859679 |
734 | K>E | No |
ClinGen TOPMed |
|
|
rs147581665 CA413813248 |
735 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10483296 rs147581665 |
735 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 735 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10483295 rs147581665 |
735 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766514046 CA10483297 |
738 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA413813363 rs1569454847 |
741 | D>N | No |
ClinGen Ensembl |
|
|
CA10483298 rs775314838 |
744 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1325642301 CA413813491 |
745 | L>V | No |
ClinGen gnomAD |
|
|
rs1371011092 CA413813595 |
748 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA333033212 rs931073856 |
749 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA413813644 rs1391971859 |
750 | N>D | No |
ClinGen gnomAD |
|
|
rs1286395497 CA413813872 |
753 | Y>C | No |
ClinGen TOPMed |
|
|
CA413813910 rs1459796033 |
754 | G>D | No |
ClinGen gnomAD |
|
|
rs772718382 CA10483311 |
754 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 756 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156995114 CA413813959 |
757 | R>C | Variant assessed as Somatic; 6.549e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10483312 rs773274775 |
757 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413813976 rs1400619113 |
758 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10483313 rs142096245 |
759 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10483314 rs771135233 |
760 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs771135233 CA10483315 |
760 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 763 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs189170994 CA10483317 |
765 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM754732 CA10483318 rs202142436 |
765 | R>H | lung Variant assessed as Somatic; 0.0 impact. liver central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1158525150 CA413814071 |
766 | C>Y | No |
ClinGen TOPMed |
|
|
COSM1464694 CA413814078 rs1246752289 |
767 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA10483319 rs374568341 COSM304286 |
767 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs767451471 CA10483320 |
769 | R>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1579380 CA10483321 rs749913260 |
770 | L>F | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs765963353 CA10483323 |
773 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199877910 CA10483322 |
773 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10483324 rs745400775 |
776 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA413814214 rs1425865306 |
779 | T>A | No |
ClinGen gnomAD |
|
|
CA10483325 rs754745583 |
779 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413814223 rs1363652416 |
780 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA413814226 rs1336706634 |
780 | T>I | No |
ClinGen TOPMed |
|
|
rs1160732550 CA413814279 |
783 | N>K | No |
ClinGen gnomAD |
|
|
rs1420524517 CA413814275 |
783 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM1569785 CA10483337 rs372432035 |
786 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10483338 rs761632565 |
786 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA413816179 rs761632565 |
786 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 791 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 798 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 800 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413816882 rs1176894153 |
800 | D>N | No |
ClinGen gnomAD |
|
|
rs759196782 CA10483344 |
801 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1467499097 CA413817072 |
802 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs373617907 CA333038734 |
805 | I>T | No |
ClinGen Ensembl |
|
|
rs756860217 CA333038733 |
805 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs765012280 CA10483345 |
806 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749561105 CA10483359 |
809 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA333038809 rs972416127 |
812 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10483360 COSM1497212 rs771733900 |
815 | Y>F | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA10483361 rs773126904 |
816 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10483363 rs746967668 |
819 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10483364 rs754746087 |
823 | L>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759138631 CA10483365 |
824 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA10483367 rs780855829 |
825 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10483368 rs762757859 |
827 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA413818480 rs1447499610 |
829 | S>T | No |
ClinGen TOPMed |
|
|
rs764349408 CA10483369 |
832 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA413818587 rs1319225328 |
832 | Y>H | No |
ClinGen gnomAD |
|
|
rs1261277897 CA413818627 |
833 | L>S | No |
ClinGen TOPMed |
|
|
rs200442529 CA10483370 |
834 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA333038836 rs933722497 |
836 | Y>H | No |
ClinGen Ensembl |
|
|
rs1451447095 CA413818808 |
837 | Q>L | No |
ClinGen gnomAD |
|
|
CA10483371 rs757640492 |
840 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486871061 CA413818926 |
840 | C>R | No |
ClinGen TOPMed |
|
|
CA333038844 rs368479839 |
842 | Q>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs781739887 CA10483372 |
842 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 843 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1050816965 CA333038852 |
845 | A>T | No |
ClinGen gnomAD |
|
|
rs756168279 CA10483374 |
846 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 846 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780148698 CA10483375 |
851 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA413819492 rs1226643817 |
853 | W>C | No |
ClinGen TOPMed |
|
|
rs1172781924 CA413819534 |
854 | A>T | No |
ClinGen gnomAD |
|
|
CA10483376 rs749507868 |
858 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1164985523 CA413819780 |
859 | K>E | No |
ClinGen gnomAD |
|
|
rs777375190 CA10483379 |
860 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA10483378 rs768981993 |
860 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1569456218 CA413819875 |
861 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 863 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402376766 CA413820013 |
865 | W>G | No |
ClinGen gnomAD |
|
|
rs1402376766 CA413820010 |
865 | W>R | No |
ClinGen gnomAD |
|
|
CA10483381 rs140393232 |
868 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413820085 rs140393232 |
868 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs941555665 CA333038891 |
874 | S>C | No |
ClinGen TOPMed |
|
|
CA10483384 rs749522517 |
878 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10483383 rs150364607 |
878 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10483386 rs762453305 |
884 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA10483388 rs774542329 |
887 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1208821477 CA413820783 |
888 | D>G | No |
ClinGen gnomAD |
|
|
CA10483401 rs138093907 |
889 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10483402 rs138093907 |
889 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142730643 CA10483404 |
890 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748367216 CA10483403 |
890 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs745783209 CA413820882 |
891 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10483405 rs372704324 |
891 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1211553731 CA413820897 |
892 | N>S | No |
ClinGen TOPMed |
|
|
CA413820961 rs1380536180 |
894 | S>T | No |
ClinGen gnomAD |
|
|
rs1486504952 CA413821020 |
895 | F>L | No |
ClinGen TOPMed |
|
|
CA333039135 rs138857581 |
899 | L>H | No |
ClinGen ESP |
|
|
CA333039131 rs145015608 |
899 | L>I | No |
ClinGen ESP |
|
|
CA413821262 rs1569456341 |
904 | K>Q | No |
ClinGen Ensembl |
|
|
CA10483408 rs775071963 |
906 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10483409 rs748864682 |
907 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 908 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336772562 CA413821345 |
908 | P>T | No |
ClinGen gnomAD |
|
|
rs1398494126 CA413821377 |
909 | P>A | No |
ClinGen gnomAD |
|
|
CA10483422 rs781072400 |
911 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs866088406 CA333039474 |
912 | T>A | No |
ClinGen Ensembl |
|
|
CA333039477 rs886977998 |
912 | T>N | No |
ClinGen TOPMed |
|
|
CA10483424 rs756080874 |
916 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA10483425 rs780166527 |
919 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA413822552 rs1422113151 |
919 | A>V | No |
ClinGen gnomAD |
|
|
rs1465377390 CA413822608 |
922 | G>A | No |
ClinGen gnomAD |
|
|
CA413822716 rs1451630555 |
926 | S>P | No |
ClinGen TOPMed |
|
|
rs1332439790 CA413822766 |
928 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs143650043 CA10483426 |
931 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413822934 rs201344589 |
934 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201344589 CA10483427 |
934 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373596221 CA10483428 |
938 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413823300 rs1165367729 |
941 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 941 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 946 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413823441 rs1162825206 |
946 | E>G | No |
ClinGen gnomAD |
|
|
CA333039727 rs868453627 |
947 | A>S | No |
ClinGen Ensembl |
|
|
rs1391742908 CA413823485 |
947 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 948 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296415974 CA413823549 |
950 | A>T | No |
ClinGen gnomAD |
|
|
rs141950074 CA10483443 |
950 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779758217 CA10483444 |
954 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs753813569 CA10483445 |
955 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754929788 CA10483446 |
956 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 957 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10483459 rs751802451 |
959 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482562364 CA413823894 |
962 | D>E | No |
ClinGen gnomAD |
|
|
rs766187450 CA413823968 |
967 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10483463 rs753593474 |
970 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA10483464 rs370115009 |
972 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370115009 CA413824067 |
972 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs34694710 CA10483465 |
974 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34694710 CA10483466 |
974 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757870224 CA10483467 |
976 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA413824175 rs1440333087 |
976 | K>T | No |
ClinGen gnomAD |
|
|
rs777327723 CA10483468 |
977 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA413824283 rs1602440791 |
980 | N>D | No |
ClinGen Ensembl |
|
|
CA10483469 rs746647614 |
982 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA10483470 rs756915857 |
985 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs534521765 CA333040150 |
986 | R>K | No |
ClinGen Ensembl |
|
|
rs767641176 CA10483479 |
994 | Q>* | No |
ClinGen ExAC |
|
|
rs776450067 CA10483480 |
995 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs145006944 CA10483481 |
996 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA333040785 rs962599800 |
998 | T>N | No |
ClinGen TOPMed |
|
|
rs1329042353 CA413825075 |
1000 | Y>C | No |
ClinGen gnomAD |
|
|
rs1470951146 CA413825072 |
1000 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs765118170 CA10483483 |
1001 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1299549325 CA413825086 |
1002 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10483484 rs752623394 |
1002 | L>S | Variant assessed as Somatic; 6.366e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758383959 CA10483485 COSM1490313 |
1004 | H>D | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 1005 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10483486 rs763532292 |
1006 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10483488 rs756893609 |
1008 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10483489 rs368216913 |
1013 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413825173 rs1602442437 |
1014 | Q>* | No |
ClinGen Ensembl |
|
|
rs745582071 CA10483490 |
1015 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs147571776 CA10483491 |
1016 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10483492 rs780632878 |
1017 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA413825196 rs1271226359 |
1018 | V>I | No |
ClinGen gnomAD |
|
|
CA413825212 rs751970856 |
1020 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10483494 rs751970856 |
1020 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774509890 CA10483495 |
1021 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774509890 CA413825221 |
1021 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748273494 CA10483496 |
1022 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1023 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413825243 rs1465976247 |
1024 | L>F | No |
ClinGen gnomAD |
|
|
CA10483499 rs144358556 |
1028 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10483498 rs144358556 |
1028 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413825291 rs1414893059 |
1028 | E>K | No |
ClinGen TOPMed |
|
|
rs762809703 CA10483502 |
1030 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs145515797 CA10483501 |
1030 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1398666622 CA413825350 |
1033 | L>V | No |
ClinGen gnomAD |
|
|
rs1278141406 CA413825373 |
1035 | S>C | No |
ClinGen gnomAD |
|
|
CA413825381 rs1452774461 |
1035 | S>R | No |
ClinGen TOPMed |
|
|
CA413825385 rs1569279879 |
1036 | P>T | No |
ClinGen Ensembl |
|
|
CA413825403 rs1341474332 |
1037 | T>I | No |
ClinGen gnomAD |
|
|
CA413825431 rs1339638801 |
1040 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1040 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1043 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764048858 CA10483503 |
1048 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413825535 rs1321347358 |
1049 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1052 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372393368 CA10483505 |
1053 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10483506 rs767096796 |
1056 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413825633 rs1191367273 |
1056 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10483507 rs148866437 |
1057 | K>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413825664 rs1188030932 |
1057 | K>N | No |
ClinGen gnomAD |
|
|
CA10483508 rs755854493 |
1060 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA10483509 rs780508295 |
1061 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA10483510 rs143560463 |
1063 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755505845 CA10483511 |
1064 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs935808424 CA333040861 |
1071 | E>K | No |
ClinGen TOPMed |
|
|
CA10483513 rs748740451 |
1073 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1074 | Q>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772038293 CA10483514 |
1074 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413825949 rs772038293 |
1074 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10483515 rs777964676 |
1075 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs747138845 CA10483516 |
1077 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA10483517 rs199726374 |
1078 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10483518 rs775225753 |
1083 | L>I | No |
ClinGen ExAC |
|
|
CA10483520 rs762758544 |
1084 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10483521 rs376091106 |
1085 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413826331 rs1217914330 |
1090 | P>A | No |
ClinGen gnomAD |
|
|
CA413826359 rs1235499707 |
1091 | A>E | No |
ClinGen gnomAD |
|
|
rs766925538 CA413826455 |
1095 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs766925538 CA10483525 |
1095 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1096 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413826571 rs1475846959 |
1099 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1100 | I>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172172458 CA413826596 |
1100 | I>T | No |
ClinGen gnomAD |
|
|
CA10483526 rs749962751 |
1101 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10483527 rs183992001 |
1101 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1104 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10483529 rs754209829 |
1108 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755591683 CA10483530 |
1109 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA333040904 rs902931568 |
1109 | A>T | No |
ClinGen Ensembl |
|
|
CA413826778 rs1269869221 |
1110 | R>T | No |
ClinGen TOPMed |
|
| TCGA novel | 1113 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866720567 CA333040914 |
1120 | M>R | No |
ClinGen Ensembl |
|
|
rs753127381 CA10483532 |
1120 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs562930924 CA10483533 |
1121 | M>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with Q0IIM8
4 regional properties for Q0IIM8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, CCCH-type | 88 - 122 | IPR000571-1 |
| domain | Zinc finger, CCCH-type | 134 - 164 | IPR000571-2 |
| conserved_site | tRNA-dihydrouridine synthase, conserved site | 378 - 396 | IPR018517 |
| domain | DUS-like, FMN-binding domain | 292 - 572 | IPR035587 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
| glomerular filtration | The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
30 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A0A087X1G2 | TBC1D3K | TBC1 domain family member 3K | Homo sapiens (Human) | PR |
| B9A6J9 | TBC1D3L | TBC1 domain family member 3L | Homo sapiens (Human) | PR |
| Q8WUA7 | TBC1D22A | TBC1 domain family member 22A | Homo sapiens (Human) | PR |
| Q8IZP1 | TBC1D3 | TBC1 domain family member 3 | Homo sapiens (Human) | PR |
| Q6IPX1 | TBC1D3C | TBC1 domain family member 3C | Homo sapiens (Human) | PR |
| A0A087WVF3 | TBC1D3D | TBC1 domain family member 3D | Homo sapiens (Human) | PR |
| A6NER0 | TBC1D3F | TBC1 domain family member 3F | Homo sapiens (Human) | PR |
| A0A087WXS9 | TBC1D3I | TBC1 domain family member 3I | Homo sapiens (Human) | PR |
| Q6DHY5 | TBC1D3G | TBC1 domain family member 3G | Homo sapiens (Human) | PR |
| A0A087X179 | TBC1D3E | TBC1 domain family member 3E | Homo sapiens (Human) | PR |
| P0C7X1 | TBC1D3H | TBC1 domain family member 3H | Homo sapiens (Human) | PR |
| A6NDS4 | TBC1D3B | TBC1 domain family member 3B | Homo sapiens (Human) | PR |
| Q8IV04 | TBC1D10C | Carabin | Homo sapiens (Human) | PR |
| Q5TC63 | GRTP1 | Growth hormone-regulated TBC protein 1 | Homo sapiens (Human) | PR |
| O60343 | TBC1D4 | TBC1 domain family member 4 | Homo sapiens (Human) | PR |
| Q86TI0 | TBC1D1 | TBC1 domain family member 1 | Homo sapiens (Human) | PR |
| O60447 | EVI5 | Ecotropic viral integration site 5 protein homolog | Homo sapiens (Human) | PR |
| Q3MII6 | TBC1D25 | TBC1 domain family member 25 | Homo sapiens (Human) | PR |
| Q2NKQ1 | SGSM1 | Small G protein signaling modulator 1 | Homo sapiens (Human) | PR |
| Q9HA65 | TBC1D17 | TBC1 domain family member 17 | Homo sapiens (Human) | PR |
| Q8TC07 | TBC1D15 | TBC1 domain family member 15 | Homo sapiens (Human) | PR |
| O95759 | TBC1D8 | TBC1 domain family member 8 | Homo sapiens (Human) | PR |
| Q66K14 | TBC1D9B | TBC1 domain family member 9B | Homo sapiens (Human) | PR |
| Q6ZT07 | TBC1D9 | TBC1 domain family member 9 | Homo sapiens (Human) | PR |
| Q8TEA7 | TBCK | TBC domain-containing protein kinase-like protein | Homo sapiens (Human) | PR |
| Q9UPU7 | TBC1D2B | TBC1 domain family member 2B | Homo sapiens (Human) | PR |
| Q3UYK3 | Tbc1d9 | TBC1 domain family member 9 | Mus musculus (Mouse) | PR |
| Q9Z1A9 | Tbc1d8 | TBC1 domain family member 8 | Mus musculus (Mouse) | PR |
| A3KGB4 | Tbc1d8b | TBC1 domain family member 8B | Mus musculus (Mouse) | PR |
| B0R0W9 | tbc1d8b | TBC1 domain family member 8B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWLKPEEVLL | KNALKLWLME | RSNDYFVLQR | RRGYGEEGGG | GLTGLLVGTL | DSVLDSTAKV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| APFRILHQTP | DSQVYLSIAC | GANREEITKH | WDWLEQNIMK | TLSVFDSNED | ITNFVQGKIR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GLIAEEGKHC | FAKEDDPEKF | REALLKFEKC | FGLPEKEKLV | TYYSCSYWKG | RVPCQGWLYL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| STNFLSFYSF | LLGSEIKLII | SWDEVSKLEK | TSNVILTESI | HVCSQGENHY | FSMFLHINQT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YLLMEQLANY | AIRRLFDKET | FDNDPVLYNP | LQITKRGLEN | RAHSEQFNAF | FRLPKGESLK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EVHECFLWVP | FSHFNTHGKM | CISENYICFA | SQDGNQCSVI | IPLREVLAID | KTNDSSKSVI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ISIKGKTAFR | FHEVKDFEQL | VAKLRLRCGA | ASTQYHDIST | ELAISSESTE | PSDNFEVQSL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TSQRECSKTV | NTEALMTVFH | PQNLETLNSK | MLKEKMKEQS | WKILFAECGR | GVSMFRTKKT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RDLVVRGIPE | TLRGELWMLF | SGAVNDMATN | PDYYTEVVEQ | SLGTCNLATE | EIERDLRRSL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PEHPAFQSDT | GISALRRVLT | AYAYRNPKIG | YCQAMNILTS | VLLLYAKEEE | AFWLLVAVCE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RMLPDYFNRR | IIGALVDQAV | FEELIRDHLP | QLTEHMTDMT | FFSSVSLSWF | LTLFISVLPI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ESAVNVVDCF | FYDGIKAILQ | LGLAILDYNL | DKLLTCKDDA | EAVTALNRFF | DNVTNKDSPL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PSNVQQGSNV | SDEKTSHTRV | DITDLIRESN | EKYGNIRYED | IHSMRCRNRL | YVIQTLEETT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KQNVLRVVSQ | DVKLSLQELD | ELYVIFKKEL | FLSCYWCLGC | PVLKHHDPSL | PYLEQYQIDC |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QQFRALYHLL | SPWAHSANKD | SLALWTFRLL | DENSDCLINF | KEFSSAIDIM | YNGSFTEKLK |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LLFKLHIPPA | YTEVKSKDAS | KGDELSKEEL | LYFSQLHVSK | PANEKEAESA | KHSPEKGKGK |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| IDIQAYLSQW | QDELFKKEEN | IKDLPRMNQS | QFIQFSKTLY | NLFHEDPEEE | SLYQAIAVVT |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| SLLLRMEEVG | RKLHSPTSSA | KGFSGTVCGS | GGPSEEKTGS | HLEKDPCSFR | EEPQWSFAFE |
| 1090 | 1100 | 1110 | |||
| QILASLLNEP | ALVRFFEKPI | DVKAKLENAR | ISQLRSRTKM |