Q7Z3V4
PR
Gene name |
UBE3B |
Protein name |
Ubiquitin-protein ligase E3B |
Names |
HECT-type ubiquitin transferase E3B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:89910 |
EC number |
2.3.2.26: Aminoacyltransferases |
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 Q7Z3V4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7Z3V4-F1 | Predicted | AlphaFoldDB |
835 variants for Q7Z3V4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001249701 CA358238 RCV000210716 rs775981553 RCV001007980 |
21 | E>* | Oculocerebrofacial syndrome, Kaufman type Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA386630087 rs1592882265 RCV001029743 |
117 | Y>* | Oculocerebrofacial syndrome, Kaufman type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566078009 RCV001089655 CA386631681 |
186 | R>* | Oculocerebrofacial syndrome, Kaufman type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002546342 COSM1358620 rs755402322 RCV001329614 CA6777735 |
298 | R>H | Variant assessed as Somatic; 0.0 impact. Oculocerebrofacial syndrome, Kaufman type large_intestine Inborn genetic diseases [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs368887776 RCV001199281 CA6777823 |
389 | W>L | Oculocerebrofacial syndrome, Kaufman type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002254000 rs1879212341 RCV001264815 |
482 | L>H | Oculocerebrofacial syndrome, Kaufman type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1879869290 RCV002254000 RCV001264816 |
539 | L>P | Oculocerebrofacial syndrome, Kaufman type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746058354 RCV001542599 CA6778002 RCV000599409 |
618 | R>* | Variant assessed as Somatic; 0.0 impact. Oculocerebrofacial syndrome, Kaufman type [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs765785230 RCV001029742 |
725 | I>missing | Oculocerebrofacial syndrome, Kaufman type [ClinVar] | Yes |
ClinVar dbSNP |
|
CA143719 RCV000043490 rs398123023 VAR_069712 |
727 | Q>P | Oculocerebrofacial syndrome, Kaufman type KOS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs398123021 RCV000043488 |
741 | R>missing | Oculocerebrofacial syndrome, Kaufman type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001334468 rs758821239 |
742 | V>* | Oculocerebrofacial syndrome, Kaufman type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000824873 rs1592972259 |
894 | N>missing | Oculocerebrofacial syndrome, Kaufman type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002549888 RCV000994974 rs202144137 CA6778309 |
922 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1358625 RCV001329612 RCV000677247 rs753221661 CA6778385 |
988 | A>T | Oculocerebrofacial syndrome, Kaufman type large_intestine Optic nerve hypoplasia Variant assessed as Somatic; 0.0001391 impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000578255 rs539407162 CA204776 RCV000190746 |
997 | R>P | Oculocerebrofacial syndrome, Kaufman type Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA6778462 RCV002546684 RCV001334469 rs192805046 COSM1510727 |
1016 | R>W | lung Oculocerebrofacial syndrome, Kaufman type Variant assessed as Somatic; 4.643e-05 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs756283868 CA6777365 |
3 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs142757108 CA6777366 |
3 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs947630776 CA243419390 |
5 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6777367 rs749860136 |
8 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6777369 rs779284561 |
11 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs771722819 CA6777371 |
14 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556951575 CA6777372 |
17 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6777373 rs746633699 |
17 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746633699 CA386628712 |
17 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386628710 rs746633699 |
17 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158534509 CA386628743 |
20 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1158534509 CA386628741 |
20 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs147402736 CA6777374 COSM1358618 |
20 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 22 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386628790 rs1390527880 |
23 | R>S | No |
ClinGen gnomAD |
|
|
rs1221536610 CA386628802 |
24 | L>P | No |
ClinGen TOPMed |
|
|
rs1371996837 CA386628808 |
25 | V>L | No |
ClinGen TOPMed |
|
|
rs1302906037 CA386628831 |
27 | K>E | No |
ClinGen gnomAD |
|
|
CA243419467 rs765224973 |
29 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372604916 CA6777377 |
29 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6777376 rs765224973 |
29 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139172208 CA6777380 COSM934818 |
31 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6777379 rs766274696 |
31 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156839669 CA386628951 |
37 | Q>E | No |
ClinGen TOPMed |
|
|
CA6777381 rs200114053 |
38 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764278999 CA6777382 |
39 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs753826150 CA6777383 |
39 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777385 rs201620860 |
41 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6777384 rs757786448 |
41 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386629016 rs1487035008 |
42 | S>N | No |
ClinGen gnomAD |
|
|
CA386629053 rs1211985011 |
45 | C>R | No |
ClinGen TOPMed |
|
|
CA6777388 rs780380636 |
46 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149953168 CA6777387 |
46 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs746722966 CA6777389 COSM934819 |
48 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs768162705 CA6777390 |
48 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776234508 CA6777391 |
49 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1246626895 CA386629104 |
52 | D>E | No |
ClinGen gnomAD |
|
|
rs762970554 CA6777395 |
52 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs773351206 CA6777394 COSM1171869 |
52 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA386629102 rs762970554 |
52 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6777396 rs770898948 |
53 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386629112 rs1469309911 |
54 | R>G | No |
ClinGen gnomAD |
|
|
CA386629113 rs1360420097 |
54 | R>K | No |
ClinGen gnomAD |
|
|
rs942863566 CA243419658 |
55 | R>G | No |
ClinGen gnomAD |
|
|
CA6777412 rs200272943 |
57 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774229226 CA6777414 |
59 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777415 rs148696226 |
60 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 61 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 62 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6777417 rs776782001 |
64 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs765346165 CA6777419 |
65 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs762004822 CA386629219 |
65 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs762004822 CA6777418 |
65 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs750469973 CA6777420 |
66 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1233510380 CA386629239 |
66 | P>T | No |
ClinGen TOPMed |
|
|
CA6777421 rs763480991 |
67 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777422 rs200964637 |
69 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386629345 rs1432546821 |
73 | A>V | No |
ClinGen gnomAD |
|
|
rs1364332171 CA386629348 |
74 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs755365552 CA6777424 |
75 | C>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 75 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386629396 rs1300637036 |
77 | F>C | No |
ClinGen gnomAD |
|
|
rs1592874276 CA386629409 |
78 | K>R | No |
ClinGen Ensembl |
|
|
rs1205668914 CA386629445 |
81 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV000404110 rs771222229 |
86 | L>missing | No |
ClinVar dbSNP |
|
|
CA6777429 rs755799083 |
89 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs777459573 CA6777430 |
94 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165829529 CA386629619 |
94 | E>K | No |
ClinGen TOPMed |
|
|
CA386629657 rs1592880506 |
95 | R>I | No |
ClinGen Ensembl |
|
|
rs140603482 CA6777441 |
96 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386629682 rs1244553082 |
98 | K>N | No |
ClinGen gnomAD |
|
|
rs1222047007 CA386629692 |
100 | C>G | No |
ClinGen TOPMed |
|
|
rs766912979 CA6777442 |
101 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386629700 rs1199490291 |
101 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6777443 rs774779282 |
102 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA243421096 rs144343146 |
102 | S>R | No |
ClinGen ESP |
|
|
CA6777446 rs767814601 |
107 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760065718 CA6777445 |
107 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1299963263 CA386629747 |
108 | D>A | No |
ClinGen TOPMed |
|
|
rs1348349074 CA386629757 |
109 | A>G | No |
ClinGen gnomAD |
|
|
CA386629752 rs1321363024 |
109 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 113 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6777448 rs755856794 |
113 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294421149 CA386629788 |
114 | K>E | No |
ClinGen TOPMed |
|
|
CA386630082 rs1441740882 |
116 | W>C | No |
ClinGen gnomAD |
|
|
rs749905472 CA6777471 |
116 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA6777473 rs779906381 |
117 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6777472 rs758290112 |
117 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA243421427 rs931189064 |
118 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6777474 rs746811263 |
122 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386630120 rs1430998068 |
123 | S>P | No |
ClinGen TOPMed |
|
|
rs151084567 CA6777475 |
126 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386630140 rs151084567 |
126 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386630142 rs1389721670 |
126 | L>P | No |
ClinGen gnomAD |
|
|
CA243421430 rs151084567 |
126 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386630147 rs1460709664 |
127 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 127 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386630157 rs1299450347 |
129 | L>V | No |
ClinGen gnomAD |
|
|
CA6777477 rs749513015 |
133 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6777479 rs771145796 |
134 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386630198 rs1391303373 |
134 | I>N | No |
ClinGen TOPMed |
|
|
rs1427784978 CA386630200 |
135 | K>E | No |
ClinGen TOPMed |
|
|
CA6777480 rs745905368 COSM1231572 |
136 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1453746049 CA386630217 |
137 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6777482 rs200936935 |
138 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6777481 rs772714100 |
138 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA6777484 rs141063517 |
140 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 140 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777101546 CA386630243 |
141 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA6777485 rs777101546 |
141 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1264855195 CA386630252 |
142 | C>F | No |
ClinGen gnomAD |
|
|
CA386630280 rs1198546006 |
146 | K>E | No |
ClinGen TOPMed |
|
|
rs377462796 CA243421480 |
147 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs565231353 CA6777489 |
148 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762458401 CA6777490 |
148 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs765868498 CA6777491 |
149 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 150 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386631211 rs1248965822 |
156 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs373717944 CA6777529 |
157 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6777531 rs200429727 |
157 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777532 rs200429727 |
157 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386631234 rs1368293651 |
158 | L>I | No |
ClinGen gnomAD |
|
|
rs1165032738 CA386631263 |
159 | I>V | No |
ClinGen gnomAD |
|
|
rs758659249 CA6777534 |
160 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530591049 CA6777535 |
164 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA243423132 rs765124542 |
165 | M>K | No |
ClinGen Ensembl |
|
|
CA6777537 rs138001412 |
165 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138001412 CA6777538 |
165 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386631410 rs1592889402 |
166 | L>V | No |
ClinGen Ensembl |
|
|
rs748598136 CA6777539 |
167 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777540 rs770252181 |
168 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6777541 rs773418865 |
168 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA386631459 rs1435666324 |
170 | T>I | No |
ClinGen TOPMed |
|
|
rs1271829487 CA386631466 |
171 | D>E | No |
ClinGen TOPMed |
|
|
CA386631477 rs1198932029 |
173 | S>* | No |
ClinGen TOPMed |
|
|
rs748971736 CA6777542 |
174 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243423150 rs1040342535 |
174 | T>M | No |
ClinGen gnomAD |
|
|
rs1249759605 CA386631491 |
175 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 176 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM934825 CA6777545 rs375093429 |
178 | L>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6777547 rs201692069 |
179 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200095998 CA6777546 |
179 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6777548 rs760512064 |
181 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 182 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428527485 CA386631654 |
184 | S>R | No |
ClinGen gnomAD |
|
|
CA6777568 rs763874814 |
184 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199655024 CA6777569 |
186 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1298880 CA6777570 rs763884868 |
188 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA386631728 rs1310221240 |
190 | N>Y | No |
ClinGen TOPMed |
|
|
rs761632028 CA6777572 |
191 | H>Y | No |
ClinGen ExAC |
|
|
rs1311385876 CA386631762 |
192 | I>M | No |
ClinGen gnomAD |
|
|
rs765118724 CA6777573 |
192 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA386631781 rs1287292615 |
194 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386631777 rs1287292615 |
194 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA243424269 rs970102463 |
195 | N>D | No |
ClinGen Ensembl |
|
|
rs1364356672 CA386631795 |
195 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1431978694 CA386631828 |
197 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386631818 rs1215174225 |
197 | M>V | No |
ClinGen gnomAD |
|
|
CA386631834 CA386631836 rs1282787828 |
198 | G>R | No |
ClinGen gnomAD |
|
|
CA386631855 rs1225929423 |
199 | H>R | No |
ClinGen gnomAD |
|
|
CA6777574 rs751887905 |
199 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA386631861 rs1264333476 |
200 | L>I | No |
ClinGen gnomAD |
|
|
rs958410473 CA243424284 |
201 | N>S | No |
ClinGen TOPMed |
|
|
rs566986756 CA6777575 |
202 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA243424303 rs1012775112 |
204 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs767667166 CA6777576 |
205 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA6777577 rs752671363 |
208 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1481365359 CA386631997 |
209 | L>P | No |
ClinGen gnomAD |
|
|
CA6777579 rs778076862 |
210 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA386633195 rs1434323515 |
212 | L>S | No |
ClinGen gnomAD |
|
|
rs747605088 CA6777626 |
214 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6777628 rs777925635 |
215 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777629 rs141861530 |
215 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777925635 CA386633225 |
215 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422151406 CA386633254 |
218 | A>G | No |
ClinGen gnomAD |
|
|
CA243425301 COSM1492747 rs866604449 |
218 | A>T | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA6777631 rs770683123 |
220 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6777630 rs770683123 |
220 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA386633281 rs1391357753 |
221 | R>C | No |
ClinGen gnomAD |
|
|
rs747230707 CA6777632 |
221 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747230707 CA386633289 |
221 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337254203 CA386633330 |
224 | L>P | No |
ClinGen gnomAD |
|
|
rs1304566246 CA386633325 |
224 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6777634 rs776701584 |
227 | G>D | No |
ClinGen ExAC |
|
|
CA6777635 rs761818585 |
228 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs761818585 CA386633373 |
228 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs560455044 CA6777636 |
229 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA243425323 rs998323772 |
230 | T>K | No |
ClinGen Ensembl |
|
|
rs773652159 CA6777637 |
231 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA386633398 rs763496381 |
232 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386633394 rs1175063805 |
232 | A>T | No |
ClinGen TOPMed |
|
|
CA6777638 rs763496381 |
232 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243425366 rs779898052 |
236 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs779898052 CA6777640 |
236 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs754690536 CA6777641 |
236 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1179671528 CA386633427 |
237 | L>F | No |
ClinGen gnomAD |
|
|
rs752392755 CA6777643 |
238 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs999649918 CA6777644 |
238 | R>H | No |
ClinGen TOPMed |
|
|
CA6777666 rs763539973 |
240 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181285750 CA386633674 |
241 | I>F | No |
ClinGen TOPMed |
|
|
CA6777670 rs750360032 RCV001008668 |
244 | Q>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6777671 rs758250458 |
244 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6777672 rs375236597 |
248 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748411631 CA6777673 COSM3810949 |
248 | N>S | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs770019299 COSM546144 CA6777674 |
249 | L>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs749323192 CA6777676 |
251 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200362048 COSM176766 CA6777675 |
251 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs770910131 CA6777677 |
252 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6777679 rs760096558 |
253 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386633761 rs1477875145 |
255 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386633760 rs1477875145 |
255 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1472101706 CA386633775 |
257 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760423512 CA6777682 |
258 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs775953709 CA6777681 |
258 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777683 rs144512513 CA6777684 |
260 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6777685 rs761457273 |
262 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6777687 rs750411366 |
263 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1342392588 CA386633813 COSM3792161 |
264 | V>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs758301802 CA6777688 |
265 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA386633855 rs1221280111 |
270 | V>M | No |
ClinGen gnomAD |
|
|
CA386633870 rs1279834329 |
271 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1168525870 CA386633872 |
272 | P>T | No |
ClinGen Ensembl |
|
|
rs749457639 CA6777693 |
273 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777718 rs769116854 |
274 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6777720 rs372352298 COSM934828 |
274 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6777719 rs769116854 |
274 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777721 rs769390021 |
275 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1377146168 CA386633970 |
276 | T>S | No |
ClinGen gnomAD |
|
|
CA386633972 rs1244851049 |
277 | V>I | No |
ClinGen gnomAD |
|
|
CA386634021 rs1220242179 |
280 | S>F | No |
ClinGen TOPMed |
|
|
CA6777722 rs61748069 |
280 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762383336 CA6777723 |
281 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113970795 CA243430728 |
283 | M>V | No |
ClinGen Ensembl |
|
|
CA6777725 COSM934829 rs774395024 |
285 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6777726 rs182329731 |
285 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA243430737 rs182329731 |
285 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6777727 rs767374794 |
287 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs752149260 CA243430753 |
288 | I>V | No |
ClinGen Ensembl |
|
|
rs1460724235 COSM1645102 CA386634134 |
289 | I>M | salivary_gland [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA386634132 rs1566085893 |
289 | I>R | No |
ClinGen Ensembl |
|
|
rs752383193 CA6777728 |
289 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777729 rs757511606 |
293 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs765485228 CA6777730 |
294 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs750665433 CA6777731 |
295 | D>H | No |
ClinGen ExAC |
|
|
CA6777732 rs758612295 |
296 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758612295 CA386634224 |
296 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777733 rs566138918 |
296 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386634232 rs1414840350 |
297 | C>R | No |
ClinGen TOPMed |
|
|
rs747593694 CA6777734 |
298 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA386634253 rs755402322 |
298 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200787724 CA243430790 |
299 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 302 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386634284 rs1439048841 |
303 | S>C | No |
ClinGen TOPMed |
|
|
CA243430797 rs935435969 |
305 | E>K | No |
ClinGen TOPMed |
|
|
rs1180649978 CA386634309 |
306 | G>E | No |
ClinGen TOPMed |
|
|
rs781638290 CA6777736 |
307 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA386634322 rs1341906595 |
308 | H>R | No |
ClinGen gnomAD |
|
|
rs373337503 CA6777737 |
309 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386634333 rs1337330829 |
310 | L>F | No |
ClinGen gnomAD |
|
|
rs1220338628 CA386634335 |
310 | L>P | No |
ClinGen gnomAD |
|
|
rs778080265 CA6777756 |
315 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165886690 CA386634459 |
318 | H>L | No |
ClinGen TOPMed |
|
|
rs1218901006 CA386634449 |
318 | H>Y | No |
ClinGen gnomAD |
|
|
CA386634477 rs1170492132 |
319 | L>F | No |
ClinGen TOPMed |
|
|
rs1429555868 CA386634479 |
320 | G>C | No |
ClinGen TOPMed |
|
|
CA386634503 rs1379780518 |
322 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1379780518 CA386634498 |
322 | L>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 322 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379780518 CA386634501 |
322 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs771603181 CA6777761 |
324 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6777762 rs775343889 |
325 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA386634534 rs775343889 |
325 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs760671084 CA6777763 |
326 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 327 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200514073 CA6777764 |
330 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6777765 rs776529477 |
332 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs543547516 CA6777766 |
334 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772329662 CA6777769 |
335 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6777768 rs143522651 |
335 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1592913409 CA386634705 |
337 | L>S | No |
ClinGen Ensembl |
|
|
rs201028903 CA6777771 |
341 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 342 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286881406 CA386634734 |
342 | L>V | No |
ClinGen gnomAD |
|
|
CA6777774 rs754140991 |
345 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA386634758 rs754140991 |
345 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA386634764 rs7298565 |
346 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_031302 CA6777775 rs7298565 |
346 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1270104885 CA386634763 |
346 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6777776 rs778493484 |
348 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA386634790 rs1378093962 |
350 | S>Y | No |
ClinGen gnomAD |
|
|
CA6777777 rs745516932 |
351 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777778 rs757898120 |
352 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6777779 rs372052099 |
352 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760612419 CA243434773 |
353 | K>M | No |
ClinGen Ensembl |
|
|
rs1462831061 CA386634811 |
353 | K>N | No |
ClinGen TOPMed |
|
|
CA243434779 rs562290450 |
355 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6777780 rs746977582 |
357 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6777781 rs768668323 |
358 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776582499 CA6777782 |
360 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386634871 rs1374912513 |
363 | L>I | No |
ClinGen gnomAD |
|
|
CA386634890 rs1393944454 |
365 | W>C | No |
ClinGen TOPMed |
|
|
CA386634903 rs1242645761 |
367 | S>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 370 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747886893 CA6777783 |
370 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA386634928 rs1358737756 |
371 | D>A | No |
ClinGen gnomAD |
|
|
rs1592913692 CA386634939 |
372 | Y>* | No |
ClinGen Ensembl |
|
|
CA6777784 rs769627683 |
372 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454842860 CA386634935 |
372 | Y>H | No |
ClinGen gnomAD |
|
|
CA6777815 COSM934830 rs144278603 |
376 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA243435420 rs897735393 |
378 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766063381 CA6777816 |
379 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386635010 rs1213899464 |
381 | I>T | No |
ClinGen gnomAD |
|
|
CA6777817 rs751254413 |
381 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768240957 CA243435426 |
384 | Q>* | No |
ClinGen Ensembl |
|
|
rs1478131322 CA386635033 |
384 | Q>H | No |
ClinGen gnomAD |
|
|
rs780827180 CA6777819 |
386 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1465704794 CA386635043 |
386 | Q>H | No |
ClinGen Ensembl |
|
|
CA6777820 rs752606144 |
386 | Q>R | No |
ClinGen ExAC |
|
|
rs1395705333 CA386635059 |
388 | L>F | No |
ClinGen TOPMed |
|
|
CA386635064 rs1359982302 |
389 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs368887776 CA6777824 |
389 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386635066 rs1359982302 |
389 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs777440267 CA6777822 |
389 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780309495 CA6777825 CA386635073 |
390 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951818233 CA243435447 |
391 | V>L | No |
ClinGen Ensembl |
|
|
CA386635110 rs1566088824 |
393 | L>P | No |
ClinGen Ensembl |
|
|
CA243435452 rs1005656508 |
394 | I>V | No |
ClinGen Ensembl |
|
|
CA243435454 rs867439832 |
395 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA243435459 rs150853934 |
396 | I>F | No |
ClinGen 1000Genomes |
|
|
rs770282740 CA6777830 |
397 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762251221 CA6777829 |
397 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA243435473 rs866212611 |
400 | D>G | No |
ClinGen Ensembl |
|
|
rs1207968708 CA386635198 |
401 | I>F | No |
ClinGen TOPMed |
|
|
CA6777831 rs372809787 |
404 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386635235 rs1301524998 |
404 | K>T | No |
ClinGen gnomAD |
|
|
rs536579251 CA243435476 |
410 | Q>* | No |
ClinGen Ensembl |
|
|
CA6777832 rs763443089 |
413 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs766836888 CA6777833 |
414 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488346348 COSM1231571 CA386635346 |
415 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1276339979 CA386635365 |
417 | P>L | No |
ClinGen TOPMed |
|
|
rs1244918889 CA386635373 |
419 | S>P | No |
ClinGen gnomAD |
|
|
CA386635380 rs1439788499 |
420 | P>S | No |
ClinGen TOPMed |
|
|
rs759233802 CA6777835 |
421 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6777836 rs767155819 |
423 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777837 rs752191578 |
426 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1353411441 CA386635432 |
426 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 427 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 427 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 429 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376987184 CA6777863 |
431 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750163727 CA6777864 |
432 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1322020 rs141849006 CA6777865 |
432 | R>H | ovary Variant assessed as Somatic; 0.0001848 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6777866 rs781547128 |
434 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA386635929 rs1438649548 |
438 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs756267187 CA386635949 |
441 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs756267187 CA6777868 |
441 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386635948 rs1235759991 |
441 | R>W | No |
ClinGen gnomAD |
|
|
CA243436176 rs963528950 |
443 | I>S | No |
ClinGen TOPMed |
|
|
rs749845480 CA6777870 |
445 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1173365417 CA386635977 |
446 | P>T | No |
ClinGen gnomAD |
|
|
CA6777872 rs370344870 |
449 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386635995 rs370344870 |
449 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373048861 CA6777874 |
451 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6777873 rs746301277 |
451 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760211645 COSM1289677 CA6777876 |
453 | D>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1367398164 CA386636033 |
455 | A>T | No |
ClinGen TOPMed |
|
|
CA6777877 rs376517537 |
457 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775958934 CA6777878 |
460 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 461 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386636124 rs1566090343 |
461 | C>G | No |
ClinGen Ensembl |
|
|
rs1052878191 CA243436199 |
462 | N>T | No |
ClinGen Ensembl |
|
|
CA6777879 rs761755340 |
463 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA243436214 rs866828876 |
468 | Q>* | No |
ClinGen Ensembl |
|
|
CA6777880 rs765096758 |
468 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1444149259 CA386636242 |
470 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs766065772 CA6777883 |
472 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA386636255 rs1477148918 |
472 | T>S | No |
ClinGen gnomAD |
|
|
rs1373942603 CA386636280 |
474 | L>P | No |
ClinGen gnomAD |
|
|
CA386636287 rs1170373588 |
475 | T>K | No |
ClinGen gnomAD |
|
|
CA6777884 rs370965720 |
475 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1426842542 CA386636292 |
476 | Q>E | No |
ClinGen gnomAD |
|
|
rs1566090452 CA386636298 |
476 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA386636320 rs374348924 |
478 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM934832 CA6777885 rs374348924 |
478 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1401714827 CA386636353 |
483 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1261810431 CA386636897 |
484 | G>D | No |
ClinGen gnomAD |
|
|
CA6777912 rs769063939 |
487 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243437812 rs912579819 |
489 | D>H | No |
ClinGen Ensembl |
|
|
CA386636999 rs1299927608 |
490 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 493 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215573346 CA386637045 |
494 | K>E | No |
ClinGen gnomAD |
|
|
CA6777913 rs780883789 |
495 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs970429479 CA243437817 |
496 | W>G | No |
ClinGen TOPMed |
|
|
rs965357868 CA243437819 |
498 | F>L | No |
ClinGen Ensembl |
|
|
CA386637100 rs1177056929 |
498 | F>S | No |
ClinGen TOPMed |
|
|
CA6777915 rs769334836 |
503 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770705560 CA6777918 |
505 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1263779428 CA386637146 |
505 | H>Y | No |
ClinGen gnomAD |
|
|
CA386637153 rs1440889628 |
506 | G>R | No |
ClinGen TOPMed |
|
|
rs1253323746 CA386637161 |
507 | G>E | No |
ClinGen TOPMed |
|
|
CA386637192 rs765426919 |
509 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777924 rs765426919 |
509 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386637201 rs1211231429 |
510 | L>F | No |
ClinGen TOPMed |
|
|
CA243437833 rs1049044330 COSM934833 |
511 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA6777925 rs779532572 |
517 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283673828 CA386637344 |
521 | E>V | No |
ClinGen TOPMed |
|
|
CA6777926 rs377095229 |
522 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs562489456 CA386637384 |
524 | Q>P | No |
ClinGen gnomAD |
|
|
rs562489456 CA243437839 |
524 | Q>R | No |
ClinGen gnomAD |
|
|
CA386637399 rs1309080983 |
525 | L>P | No |
ClinGen TOPMed |
|
|
CA386637450 rs1267762999 |
529 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752097347 CA6777928 |
530 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1378617322 CA386637491 |
532 | F>L | No |
ClinGen TOPMed |
|
|
rs947828029 CA243437843 |
532 | F>S | No |
ClinGen Ensembl |
|
|
CA6777929 rs755351128 |
534 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6777930 rs781506345 |
535 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs369445751 CA6777931 |
536 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6777934 rs748814658 |
537 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115231746 CA6777933 |
537 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770460631 CA6777935 |
539 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA386637571 rs770460631 |
539 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1732818 rs774203713 CA6777936 |
541 | T>I | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA386637780 rs1566096015 |
542 | I>V | No |
ClinGen Ensembl |
|
|
rs753003633 CA6777950 |
546 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA386637823 rs1377340806 |
548 | V>I | No |
ClinGen gnomAD |
|
|
rs1464603882 CA386637881 |
553 | I>M | No |
ClinGen gnomAD |
|
|
rs536093921 CA6777952 |
556 | K>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536093921 CA6777951 |
556 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536093921 CA386637912 |
556 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6777953 rs748948510 |
557 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 558 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386637960 rs1399877215 |
560 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1013100968 CA386637971 |
561 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1013100968 CA243438326 |
561 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA243438331 rs113515947 |
563 | I>T | No |
ClinGen Ensembl |
|
|
rs778443017 CA6777955 |
563 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000171471 rs786205621 |
565 | S>missing | No |
ClinVar dbSNP |
|
|
rs745812554 CA6777956 |
565 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 566 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772074081 COSM168145 CA6777957 |
569 | S>Y | large_intestine Variant assessed as Somatic; 4.638e-05 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6777959 rs373624920 |
571 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1214274962 CA386638099 |
572 | F>L | No |
ClinGen gnomAD |
|
|
CA386638150 rs1265263420 |
576 | W>L | No |
ClinGen gnomAD |
|
|
CA386638177 rs1190472808 |
578 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6777960 rs768561722 |
578 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA243438339 rs137958276 |
579 | I>T | No |
ClinGen ESP |
|
|
rs1399655549 CA386638195 |
580 | V>L | No |
ClinGen Ensembl |
|
|
rs1266899670 CA386638203 |
581 | E>K | No |
ClinGen gnomAD |
|
|
CA386638298 rs768852371 |
583 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777976 rs768852371 |
583 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386638322 rs1176925414 |
585 | G>S | No |
ClinGen gnomAD |
|
|
CA243438520 rs1035550168 |
586 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA386638333 rs1410764028 |
586 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386638335 rs1410764028 |
586 | E>Q | No |
ClinGen gnomAD |
|
|
CA6777977 rs780201047 |
587 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA386638361 rs1164720633 |
588 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386638373 rs1348459395 |
589 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA386638392 rs1410198712 |
592 | Q>* | No |
ClinGen TOPMed |
|
|
CA386638399 rs1352157240 |
593 | S>P | No |
ClinGen TOPMed |
|
|
rs534563601 CA243438526 |
596 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs534563601 CA6777979 |
596 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1443894310 CA386638438 |
599 | M>L | No |
ClinGen gnomAD |
|
|
CA6777981 rs200295015 |
600 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA243438530 rs1020083407 |
600 | V>L | No |
ClinGen TOPMed |
|
|
rs61760194 CA386638462 |
602 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM200780 CA243438533 rs1032357677 |
603 | E>K | Variant assessed as Somatic; 4.652e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6777985 rs375384123 |
604 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369410122 CA386638470 |
604 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369410122 CA6777986 |
604 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375384123 CA6777984 |
604 | R>W | Variant assessed as Somatic; 4.656e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs535545422 CA6777987 |
605 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 605 | D>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751045596 CA243438534 |
607 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777989 rs199696846 |
607 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6777988 rs751045596 |
607 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6777992 rs372827099 |
608 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138717457 CA6777991 |
608 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6777993 rs758034388 |
609 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141825379 CA6777994 |
609 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1566096946 CA386638505 |
611 | T>A | No |
ClinGen Ensembl |
|
|
CA6777997 rs146283937 |
611 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6777996 rs146283937 |
611 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386638509 COSM430300 rs1037398629 |
612 | P>A | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs375635592 CA243438536 |
612 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs1037398629 CA243438535 |
612 | P>S | No |
ClinGen TOPMed |
|
|
CA6778000 rs769473261 |
613 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446674354 CA386638528 |
615 | H>D | No |
ClinGen gnomAD |
|
|
CA386638545 rs1282347689 |
617 | L>M | No |
ClinGen gnomAD |
|
|
CA243438539 rs937004655 |
618 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs937004655 CA243438538 |
618 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA386638877 rs1368617582 |
620 | D>E | No |
ClinGen TOPMed |
|
|
CA386638900 rs747158016 |
622 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747158016 CA6778024 |
622 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6778025 rs371072652 |
623 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139428647 CA6778026 |
624 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs183250703 CA6778028 COSM3935728 |
625 | V>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1193853143 CA386638972 |
628 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1193853143 CA386638974 |
628 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1566097786 CA386639015 |
631 | D>E | No |
ClinGen Ensembl |
|
|
rs766067011 COSM3687941 CA6778031 |
631 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386639034 rs1344957917 |
633 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA386639031 rs1344957917 |
633 | D>Y | No |
ClinGen TOPMed |
|
|
CA6778035 rs376213401 |
636 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6778036 rs376213401 |
636 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6778034 rs759145811 |
636 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA386639085 rs1207241203 |
637 | A>V | No |
ClinGen gnomAD |
|
|
rs1348444836 CA386639116 |
639 | L>F | No |
ClinGen TOPMed |
|
|
CA6778039 rs573156019 |
641 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200296256 CA6778040 |
643 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747175384 CA6778042 |
644 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs376232986 CA6778043 |
644 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 645 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566097921 CA386639199 |
646 | H>R | No |
ClinGen Ensembl |
|
|
rs781093271 CA6778045 |
652 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA386640088 rs1424949304 |
653 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 655 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs565691993 CA6778075 |
655 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761700377 CA6778077 |
658 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1463587266 CA386640157 |
658 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA386640201 rs1168616260 |
659 | T>I | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759813881 CA6778080 |
660 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6778079 rs750128681 |
660 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs904480115 CA243439212 |
661 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386640253 rs1382067495 |
662 | T>N | No |
ClinGen gnomAD |
|
|
rs767702458 CA6778081 |
663 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6778082 rs767702458 |
663 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs150616667 CA6778083 |
665 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777958067 CA6778084 |
668 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs998776698 CA243439213 |
669 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA386640423 rs1275552442 |
672 | E>Q | No |
ClinGen TOPMed |
|
|
CA243439214 rs878861831 |
675 | S>A | No |
ClinGen Ensembl |
|
|
rs754416261 CA6778085 |
675 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6778086 rs757776936 |
676 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6778087 rs779335516 |
677 | S>F | No |
ClinGen ExAC |
|
|
CA6778088 rs368809737 |
678 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6778091 rs746631323 |
679 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6778092 rs768187824 |
681 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA386640592 rs1394485631 |
683 | I>V | No |
ClinGen gnomAD |
|
|
rs761753347 CA6778094 |
686 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1231570 rs371575065 CA6778095 |
686 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6778098 rs374744734 |
687 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6778097 rs762718540 |
687 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA386640708 rs1373757629 |
692 | E>D | No |
ClinGen gnomAD |
|
|
CA6778099 rs752904633 |
692 | E>G | No |
ClinGen ExAC |
|
|
CA6778123 rs765326926 |
694 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149472470 CA243439661 |
695 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766669065 CA6778126 |
696 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs145812083 CA6778125 |
696 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 698 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751856076 CA6778127 |
698 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1386352563 CA386642048 |
701 | L>F | No |
ClinGen TOPMed |
|
|
CA386642066 rs1476397983 |
702 | S>F | No |
ClinGen gnomAD |
|
|
CA386642076 rs1592954525 |
703 | Q>P | No |
ClinGen Ensembl |
|
|
CA6778131 rs747781423 |
705 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6778130 rs747781423 |
705 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243439668 rs140114450 |
706 | M>T | No |
ClinGen ESP TOPMed |
|
|
rs1259138107 CA386642133 |
707 | K>N | No |
ClinGen TOPMed |
|
|
CA243439669 rs755644890 |
708 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755644890 CA6778132 |
708 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386642148 rs749193019 |
709 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386642153 rs1592954616 |
709 | V>G | No |
ClinGen Ensembl |
|
|
rs749193019 CA6778133 |
709 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414054007 CA386642155 |
710 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386642171 rs1248127663 |
711 | R>H | No |
ClinGen TOPMed |
|
|
rs1324753653 CA386642196 |
713 | K>R | No |
ClinGen TOPMed |
|
|
CA6778135 rs774422074 COSM430301 |
714 | F>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs745711632 CA6778136 |
716 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243439674 rs866009082 |
719 | G>R | No |
ClinGen gnomAD |
|
|
rs777032511 CA6778138 |
722 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1301550863 CA386642332 |
723 | A>E | No |
ClinGen TOPMed |
|
|
rs117369894 CA386642436 |
728 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6778141 rs765252784 |
728 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460968311 CA386642445 |
729 | G>S | No |
ClinGen TOPMed |
|
|
CA386642494 rs1486855627 |
731 | F>L | No |
ClinGen gnomAD |
|
|
CA243439680 rs952463191 |
734 | F>C | No |
ClinGen Ensembl |
|
|
rs763376287 CA6778143 |
739 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA386642784 rs1187930625 |
740 | K>R | No |
ClinGen gnomAD |
|
|
rs927766430 CA386642802 |
741 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA386642895 rs1264817765 |
746 | A>T | No |
ClinGen TOPMed |
|
|
CA6778146 rs375062055 |
747 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6778147 rs759946467 |
748 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386642974 rs1272155582 |
751 | K>N | No |
ClinGen gnomAD |
|
|
CA243439712 rs987951646 |
752 | T>R | No |
ClinGen Ensembl |
|
|
rs758799716 CA243439713 |
753 | T>A | No |
ClinGen Ensembl |
|
|
rs1348972246 COSM200781 CA386643076 |
756 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6778167 rs760940529 |
757 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA386643090 rs1592955258 |
757 | E>Q | No |
ClinGen Ensembl |
|
|
rs947463237 CA243439716 |
758 | R>K | No |
ClinGen Ensembl |
|
|
CA386643116 rs1211464852 |
759 | L>P | No |
ClinGen gnomAD |
|
|
CA386643112 rs1467791179 |
759 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778069857 CA243439718 |
760 | Y>D | No |
ClinGen Ensembl |
|
| TCGA novel | 760 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386643135 rs1451681629 |
761 | P>S | No |
ClinGen gnomAD |
|
|
CA6778170 rs756867523 |
766 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1159694080 CA386643206 |
767 | I>T | No |
ClinGen gnomAD |
|
|
rs1261404478 CA386643223 |
768 | H>R | No |
ClinGen TOPMed |
|
|
CA386643290 rs750407419 |
771 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs758351341 CA6778173 |
773 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1387485829 CA386643350 |
775 | F>L | No |
ClinGen gnomAD |
|
|
rs142640939 CA6778177 |
776 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372221466 CA6778176 |
776 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749443443 CA6778178 |
777 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA6778179 rs771034258 |
780 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401822671 CA386643465 |
780 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA386643484 rs1274723196 |
781 | M>I | No |
ClinGen gnomAD |
|
|
rs774368115 CA6778180 |
781 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 782 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772631499 CA386643499 |
782 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772631499 CA6778182 |
782 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760038282 CA6778181 |
782 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 783 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386643541 rs1248298682 |
785 | A>P | No |
ClinGen gnomAD |
|
|
rs775842844 CA6778183 |
786 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6778185 rs555124927 |
787 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6778204 rs747433142 |
792 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3359528 rs150941198 CA6778206 |
794 | V>M | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1396930022 CA386644492 |
796 | F>L | No |
ClinGen TOPMed |
|
|
rs1326251956 CA386644498 |
796 | F>S | No |
ClinGen Ensembl |
|
|
CA386644536 rs1168848454 |
799 | F>S | No |
ClinGen TOPMed |
|
|
CA386644553 rs1302551815 |
800 | F>L | No |
ClinGen gnomAD |
|
|
CA243440162 rs752095625 |
800 | F>L | No |
ClinGen Ensembl |
|
|
rs761560741 CA6778208 |
804 | L>M | No |
ClinGen ExAC TOPMed |
|
|
CA386644625 rs1256332648 |
806 | G>E | No |
ClinGen gnomAD |
|
|
rs1212180878 CA386644617 |
806 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 806 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 808 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6778209 rs772988554 |
809 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1424718502 CA386644679 |
810 | S>N | No |
ClinGen TOPMed |
|
|
rs150971562 CA386644687 |
810 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751551547 CA6778212 |
811 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs767360700 CA6778214 |
812 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA6778213 rs201572763 |
812 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1453070613 CA386644722 |
813 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA243440167 rs767896553 |
815 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs556933777 CA6778216 |
818 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 821 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196433921 CA386644813 |
821 | S>Y | No |
ClinGen TOPMed |
|
|
CA386644847 rs1324580287 |
824 | S>C | No |
ClinGen gnomAD |
|
|
CA6778221 rs779946643 |
825 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs989145042 CA243440169 |
827 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs917136833 CA243440170 |
828 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386644933 rs1236663176 |
830 | L>F | No |
ClinGen gnomAD |
|
|
CA6778222 rs747564887 |
831 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466379783 CA386644959 |
832 | S>F | No |
ClinGen gnomAD |
|
|
CA6778232 rs767408299 |
835 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6778233 rs752604839 |
835 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6778235 rs763834013 |
836 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA243440216 rs958531238 |
836 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6778236 rs750663891 |
837 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs889466402 CA243440217 |
838 | G>E | No |
ClinGen TOPMed |
|
|
CA6778237 rs758489290 |
839 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1032762019 CA243440218 |
840 | I>T | No |
ClinGen TOPMed |
|
|
CA386645156 rs1415300925 |
841 | T>S | No |
ClinGen gnomAD |
|
|
rs780186260 CA6778238 |
842 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA243440219 rs992640941 |
844 | G>S | No |
ClinGen gnomAD |
|
|
CA6778240 rs184291791 |
846 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386645275 rs1566110206 |
848 | S>C | No |
ClinGen Ensembl |
|
|
CA386645294 rs1414008732 |
849 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA386645306 rs1321182888 |
850 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6778244 rs770314364 |
850 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs770427616 CA6778247 |
851 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748985642 CA6778246 |
851 | E>K | No |
ClinGen ExAC |
|
|
rs374684265 CA386645374 |
853 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374684265 CA6778249 |
853 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374684265 CA6778248 |
853 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386645401 rs1203562213 |
854 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1203562213 CA386645398 |
854 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs771300927 CA6778266 |
863 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386645899 rs1390278755 |
864 | P>L | No |
ClinGen gnomAD |
|
|
CA386645902 rs1170747250 |
865 | G>E | No |
ClinGen gnomAD |
|
|
rs778467025 CA6778267 |
865 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386645930 rs1335103889 |
869 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 874 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386646666 rs1409523761 |
880 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 887 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757976738 CA6778287 |
887 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757976738 CA6778288 |
887 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6778289 rs746578379 |
890 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs768132757 CA6778290 |
894 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386646857 rs1386352937 |
894 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 894 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386646920 rs1331385525 |
899 | L>F | No |
ClinGen TOPMed |
|
|
rs1331385525 CA386646916 |
899 | L>I | No |
ClinGen TOPMed |
|
|
CA6778293 rs769499813 |
899 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1327538102 CA386646940 |
901 | S>R | No |
ClinGen gnomAD |
|
|
rs759845242 CA6778295 |
902 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6778296 rs200182141 |
904 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6778297 rs775845272 |
904 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1159793190 CA386646998 |
907 | I>V | No |
ClinGen gnomAD |
|
|
CA243441956 rs866296727 |
909 | P>L | No |
ClinGen Ensembl |
|
|
rs760873554 CA6778298 |
909 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764225543 CA6778299 |
910 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386647060 rs1592972389 |
911 | W>C | No |
ClinGen Ensembl |
|
|
rs754321780 CA6778300 |
913 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs757722460 CA386647082 |
913 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs757722460 CA6778301 |
913 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765037011 CA6778303 |
914 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563163856 CA6778302 |
914 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386647091 rs765037011 |
914 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161483384 TCGA novel CA386647100 |
915 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA243441977 rs768598293 |
917 | T>A | No |
ClinGen Ensembl |
|
|
rs746633637 CA386647136 |
918 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6778306 rs746633637 |
918 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA386647145 rs1412140905 |
919 | E>K | No |
ClinGen gnomAD |
|
|
CA6778308 rs754514239 |
921 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA6778310 rs530625803 |
922 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6778311 rs769709514 |
924 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386647227 rs1437561063 |
925 | S>C | No |
ClinGen TOPMed |
|
|
rs752372545 CA243441991 |
926 | G>S | No |
ClinGen Ensembl |
|
|
CA6778313 rs749157533 |
927 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386647263 rs1272469691 |
928 | N>S | No |
ClinGen gnomAD |
|
|
rs141709807 CA6778314 |
929 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 930 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs995051802 CA243441994 |
931 | I>M | No |
ClinGen TOPMed |
|
|
rs1345114378 CA386647316 |
932 | D>G | No |
ClinGen TOPMed |
|
|
rs760926780 CA6778316 |
933 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA386647486 rs1311698405 |
938 | K>R | No |
ClinGen TOPMed |
|
|
rs751856458 CA6778341 |
942 | Y>C | No |
ClinGen ExAC |
|
|
rs759816886 CA6778342 |
943 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 944 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6778344 rs752272938 |
951 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1257962479 CA386647680 |
953 | I>L | No |
ClinGen gnomAD |
|
|
CA386647695 rs1309054370 |
954 | I>F | No |
ClinGen TOPMed |
|
|
rs777094936 CA6778346 |
958 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs753836842 CA6778347 |
960 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1189765542 CA386647787 |
962 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs61748816 CA6778349 |
963 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61748816 CA386647802 |
963 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745713775 CA6778350 |
965 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs144573357 CA6778351 |
966 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6778352 rs144573357 |
966 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386647842 rs1156522771 |
967 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs61744923 CA6778354 |
970 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61744923 CA6778355 |
970 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371521249 CA6778356 |
971 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243442209 rs368097236 |
971 | M>V | No |
ClinGen 1000Genomes ESP |
|
| rs1390608713 | 975 | F>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746325229 CA6778379 |
976 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410921587 CA386630333 |
977 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386630344 rs1425103051 |
979 | C>R | No |
ClinGen gnomAD |
|
|
CA386630355 rs1165351893 |
980 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1165351893 CA386630356 |
980 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1194280771 CA386630362 |
981 | R>S | No |
ClinGen TOPMed |
|
|
CA6778381 rs148729825 |
982 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs967784855 CA243441275 |
982 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6778380 rs148729825 |
982 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386630364 rs148729825 |
982 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6778382 rs761093675 |
983 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386630398 rs753221661 |
988 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6778387 rs750397701 |
989 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386630406 rs750397701 |
989 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386630405 rs750397701 |
989 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386630417 rs1592979063 |
991 | K>E | No |
ClinGen Ensembl |
|
|
rs895877698 CA243441287 |
991 | K>N | No |
ClinGen Ensembl |
|
|
rs758212453 CA6778388 |
991 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386630489 rs1370932110 |
996 | I>M | No |
ClinGen TOPMed |
|
|
rs766201735 CA6778389 |
996 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA243441295 rs758725785 |
997 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs539407162 CA243441300 |
997 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs751378709 CA6778391 |
999 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751378709 CA6778390 |
999 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386630550 rs1592979181 |
1001 | V>G | No |
ClinGen Ensembl |
|
|
CA6778392 rs778021178 |
1001 | V>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000493642 CA6778393 rs754032570 COSM1165204 |
1002 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1170425925 CA386630586 |
1004 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA386631557 rs1163982698 |
1007 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs778155158 CA6778459 |
1008 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA386631572 rs748892701 |
1010 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748892701 CA6778460 |
1010 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6778461 rs376853832 |
1014 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745426222 CA6778463 |
1016 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771551150 CA6778464 |
1017 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA243441722 rs974252336 |
1018 | F>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1018 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312113567 CA386631640 |
1020 | T>A | No |
ClinGen gnomAD |
|
|
rs1312113567 CA386631638 |
1020 | T>P | No |
ClinGen gnomAD |
|
|
rs1248841449 CA386631657 |
1021 | I>T | No |
ClinGen gnomAD |
|
|
CA6778465 rs775430715 |
1021 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs746925407 CA6778466 |
1022 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs768340824 CA6778467 |
1022 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6778469 rs761499136 |
1024 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776429830 CA6778468 |
1024 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs147492786 CA6778470 |
1025 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6778472 rs759737421 |
1027 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1027 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374046452 CA6778473 |
1028 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6778474 rs750656809 |
1029 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6778475 rs200389976 |
1029 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1592981713 CA386631759 |
1030 | L>P | No |
ClinGen Ensembl |
|
|
rs1356441249 CA386631775 |
1031 | P>L | No |
ClinGen gnomAD |
|
|
rs1302298657 CA386631784 |
1032 | T>N | No |
ClinGen gnomAD |
|
|
rs1592981755 CA386631778 |
1032 | T>P | No |
ClinGen Ensembl |
|
|
rs1197725620 CA386631813 |
1034 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386631815 rs1316399177 |
1035 | T>P | No |
ClinGen gnomAD |
|
|
CA386631835 rs1341888970 |
1036 | C>Y | No |
ClinGen gnomAD |
|
|
CA386631866 rs778589223 |
1038 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6778480 rs778589223 |
1038 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6778481 rs750030747 |
1039 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA386631932 rs1307646645 |
1044 | N>D | No |
ClinGen gnomAD |
|
|
rs1209020323 CA386631942 |
1044 | N>K | No |
ClinGen gnomAD |
|
|
rs1219065002 CA386631970 |
1046 | S>I | No |
ClinGen TOPMed |
|
|
rs1260684502 CA386631981 |
1047 | K>R | No |
ClinGen gnomAD |
|
|
CA6778483 COSM1659533 rs779474280 |
1050 | V>I | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA386632028 rs1161412660 |
1051 | L>F | No |
ClinGen gnomAD |
|
|
CA6778485 rs145503739 |
1052 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6778486 rs780986770 |
1052 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA6778488 rs370843966 |
1053 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759788668 CA6778490 |
1055 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1015920433 COSM934841 CA243441791 |
1056 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA386632083 rs1337946234 |
1056 | R>H | No |
ClinGen gnomAD |
|
|
rs775578305 CA6778492 |
1058 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6778493 rs374191030 |
1059 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243441797 rs139973666 |
1060 | S>C | No |
ClinGen ESP TOPMed |
|
|
CA386632117 rs139973666 |
1060 | S>G | No |
ClinGen ESP TOPMed |
|
|
rs1363115104 CA386632122 |
1060 | S>I | No |
ClinGen gnomAD |
|
|
CA386632139 rs1218249484 |
1061 | M>I | No |
ClinGen gnomAD |
|
|
CA386632186 rs1281060028 |
1063 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386632269 rs1266945367 |
1068 | S>T | No |
ClinGen gnomAD |
1 associated diseases with Q7Z3V4
[MIM: 244450]: Kaufman oculocerebrofacial syndrome (KOS)
A syndrome characterized by blepharophimosis, ptosis, mild upslanting of the palpebral fissures, epicanthus, ectodermal anomalies, developmental delay, and severe intellectual disability with absent speech. Proportionate growth retardation with a small head circumference/microcephaly, congenital malformations, muscular hypotonia, anomalies on brain imaging with hypoplasia of the corpus callosum, and low cholesterol levels are variably present. {ECO:0000269|PubMed:23200864}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A syndrome characterized by blepharophimosis, ptosis, mild upslanting of the palpebral fissures, epicanthus, ectodermal anomalies, developmental delay, and severe intellectual disability with absent speech. Proportionate growth retardation with a small head circumference/microcephaly, congenital malformations, muscular hypotonia, anomalies on brain imaging with hypoplasia of the corpus callosum, and low cholesterol levels are variably present. {ECO:0000269|PubMed:23200864}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.26 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
| ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFTLSQTSRA | WFIDRARQAR | EERLVQKERE | RAAVVIQAHV | RSFLCRSRLQ | RDIRREIDDF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FKADDPESTK | RSALCIFKIA | RKLLFLFRIK | EDNERFEKLC | RSILSSMDAE | NEPKVWYVSL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ACSKDLTLLW | IQQIKNILWY | CCDFLKQLKP | EILQDSRLIT | LYLTMLVTFT | DTSTWKILRG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KGESLRPAMN | HICANIMGHL | NQHGFYSVLQ | ILLTRGLARP | RPCLSKGTLT | AAFSLALRPV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IAAQFSDNLI | RPFLIHIMSV | PALVTHLSTV | TPERLTVLES | HDMLRKFIIF | LRDQDRCRDV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CESLEGCHTL | CLMGNLLHLG | SLSPRVLEEE | TDGFVSLLTQ | TLCYCRKYVS | QKKSNLTHWH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PVLGWFSQSV | DYGLNESMHL | ITKQLQFLWG | VPLIRIFFCD | ILSKKLLESQ | EPAHAQPASP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QNVLPVKSLL | KRAFQKSASV | RNILRPVGGK | RVDSAEVQKV | CNICVLYQTS | LTTLTQIRLQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ILTGLTYLDD | LLPKLWAFIC | ELGPHGGLKL | FLECLNNDTE | ESKQLLAMLM | LFCDCSRHLI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TILDDIEVYE | EQISFKLEEL | VTISSFLNSF | VFKMIWDGIV | ENAKGETLEL | FQSVHGWLMV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LYERDCRRRF | TPEDHWLRKD | LKPSVLFQEL | DRDRKRAQLI | LQYIPHVIPH | KNRVLLFRTM |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VTKEKEKLGL | VETSSASPHV | THITIRRSRM | LEDGYEQLRQ | LSQHAMKGVI | RVKFVNDLGV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DEAGIDQDGV | FKEFLEEIIK | RVFDPALNLF | KTTSGDERLY | PSPTSYIHEN | YLQLFEFVGK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| MLGKAVYEGI | VVDVPFASFF | LSQLLGHHHS | VFYSSVDELP | SLDSEFYKNL | TSIKRYDGDI |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TDLGLTLSYD | EDVMGQLVCH | ELIPGGKTIP | VTNENKISYI | HLMAHFRMHT | QIKNQTAALI |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SGFRSIIKPE | WIRMFSTPEL | QRLISGDNAE | IDLEDLKKHT | VYYGGFHGSH | RVIIWLWDIL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| ASDFTPDERA | MFLKFVTSCS | RPPLLGFAYL | KPPFSIRCVE | VSDDQDTGDT | LGSVLRGFFT |
| 1030 | 1040 | 1050 | 1060 | ||
| IRKREPGGRL | PTSSTCFNLL | KLPNYSKKSV | LREKLRYAIS | MNTGFELS |