Q5ST30
PR
Gene name |
VARS2 (KIAA1885, VARS2L, VARSL) |
Protein name |
Valine--tRNA ligase, mitochondrial |
Names |
Valyl-tRNA synthetase, ValRS, Valyl-tRNA synthetase-like |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57176 |
EC number |
6.1.1.9: Ligases forming aminoacyl-tRNA and related compounds |
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 Q5ST30
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5ST30-F1 | Predicted | AlphaFoldDB |
806 variants for Q5ST30
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs199534441 CA3705496 RCV000791151 RCV002535831 |
35 | H>R | Inborn genetic diseases Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001334848 CA3705504 rs750590170 |
48 | Q>E | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767695626 CA3705537 RCV001330433 RCV001871812 |
92 | E>G | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ExAC gnomAD ClinGen ClinVar dbSNP |
|
RCV002526002 CA3705587 RCV000487589 rs141408930 |
141 | M>I | Inborn genetic diseases [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA3705627 RCV000622841 rs139515727 RCV000578261 |
171 | R>W | Variant assessed as Somatic; 0.0 impact. Combined oxidative phosphorylation defect type 20 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar NCI-TCGA dbSNP |
|
rs544609783 RCV002261342 RCV001330434 CA3705672 |
211 | R>W | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs140184279 CA3705707 RCV001334854 RCV002546703 |
246 | C>R | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA215019 RCV002251995 RCV001090482 RCV000129937 RCV000623604 rs587777585 VAR_071850 |
337 | T>I | Inborn genetic diseases Combined oxidative phosphorylation defect type 20 COXPD20; decreased levels of the protein [ClinVar, UniProt] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
RCV000129933 CA215015 rs587777583 VAR_071851 |
349 | A>T | Combined oxidative phosphorylation defect type 20 COXPD20 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA3705789 rs753490759 RCV001201410 |
354 | D>N | Variant assessed as Somatic; 0.0 impact. Combined oxidative phosphorylation defect type 20 [NCI-TCGA, ClinVar] | Yes |
ExAC gnomAD ClinGen ClinVar NCI-TCGA dbSNP |
|
CA363170600 RCV001577439 rs1554267386 RCV000623799 |
358 | T>I | Inborn genetic diseases [ClinVar] | Yes |
Ensembl ClinGen ClinVar dbSNP |
|
RCV002252181 RCV000625984 RCV002529769 CA3705844 rs202201763 RCV000676486 |
390 | A>T | Combined oxidative phosphorylation defect type 20 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_043731 CA3705880 rs2249464 RCV000987661 RCV000676489 RCV000426168 |
449 | W>R | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP TOPMed dbSNP gnomAD |
|
rs775439829 CA3705904 RCV001201408 |
467 | R>H | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA363173169 rs775439829 RCV000578459 |
467 | R>P | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV001201407 CA3705911 rs143821815 RCV002253783 RCV002560287 |
486 | E>* | Combined oxidative phosphorylation defect type 20 Inborn genetic diseases [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs1554268077 RCV000578269 |
488 | G>missing | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761726567 RCV001169882 |
546 | E>V | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001732009 CA3706001 RCV000998552 RCV001270040 COSM1732600 rs143408155 |
564 | A>V | NS Combined oxidative phosphorylation defect type 20 [Cosmic, ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar dbSNP |
|
CA215017 rs587777584 RCV000129935 VAR_071852 |
596 | A>D | Combined oxidative phosphorylation defect type 20 COXPD20 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs777028011 RCV000987662 |
612 | L>missing | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000413756 RCV000709983 RCV000676492 CA3706066 COSM248270 rs367837827 |
617 | T>M | prostate Combined oxidative phosphorylation defect type 20 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3706111 RCV001334846 RCV002252364 rs148448090 |
652 | R>W | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA3706147 rs2074506 RCV000676493 RCV000427193 VAR_043732 RCV000987663 |
680 | V>L | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
rs772718755 CA3706189 RCV001201409 |
717 | A>T | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs747564856 CA3706294 RCV001330430 |
834 | R>H | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs138855624 CA3706303 RCV001334849 RCV000514806 |
851 | R>C | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV002546701 CA3706319 rs376070793 RCV001334850 RCV001859328 |
875 | P>L | Inborn genetic diseases Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs570231965 RCV001334851 COSM3697738 CA3706352 |
895 | R>H | large_intestine Combined oxidative phosphorylation defect type 20 [Cosmic, ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar dbSNP |
|
rs9394021 CA3706369 RCV000987664 VAR_043733 RCV000676498 RCV000434969 |
917 | R>Q | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1794768738 RCV001293011 |
920 | Y>H | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1794789052 RCV001330431 |
961 | L>missing | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001576779 rs767441762 CA3706432 RCV001330432 |
1002 | R>Q | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001509267 CA3706433 rs773482888 RCV000791150 |
1007 | Q>R | Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002546702 RCV001334853 rs201946203 RCV001871863 CA3706467 |
1031 | L>R | Inborn genetic diseases Combined oxidative phosphorylation defect type 20 [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA363178666 rs1562465419 RCV000714819 |
1033 | S>F | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs754245897 CA363163126 |
3 | H>D | No |
ExAC gnomAD ClinGen |
|
|
CA3705479 rs759755339 |
3 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754245897 CA3705478 |
3 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA136802675 rs912935909 |
8 | S>A | No |
TOPMed ClinGen |
|
|
CA363163228 rs912935909 |
8 | S>P | No |
ClinGen TOPMed |
|
|
CA3705482 rs145694863 |
8 | S>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3705483 rs777795278 |
10 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs777795278 CA136802703 |
10 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA363163306 rs1294676924 |
11 | P>L | No |
ClinGen gnomAD |
|
|
CA3705485 rs751795905 |
13 | F>L | No |
ExAC gnomAD ClinGen |
|
|
CA3705486 rs781212294 |
15 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363163460 rs1290372609 |
18 | H>L | No |
gnomAD ClinGen |
|
|
CA3705487 rs558435777 |
20 | R>L | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs988600637 CA136802732 |
20 | R>W | No |
TOPMed ClinGen |
|
|
rs1276485365 CA363163554 |
23 | P>S | No |
gnomAD ClinGen |
|
|
rs1262277669 CA363163580 |
24 | R>M | No |
TOPMed ClinGen |
|
|
rs933267224 CA136802750 |
26 | H>Q | No |
Ensembl ClinGen |
|
|
RCV000676479 rs6926224 CA3705490 RCV000424880 VAR_052651 |
26 | H>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
|
rs1277415716 CA363163642 |
27 | S>F | No |
TOPMed ClinGen |
|
|
rs771779505 CA3705491 |
27 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3705492 rs772838927 |
28 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs760048323 CA363163723 |
32 | S>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs760048323 CA3705493 |
32 | S>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1181872310 CA363163732 |
33 | E>K | No |
ClinGen gnomAD |
|
|
CA3705495 rs776104443 |
34 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474692209 CA363163761 |
35 | H>N | No |
gnomAD ClinGen |
|
|
CA3705497 rs765559507 |
36 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363163812 rs1166108146 |
37 | S>C | No |
ClinGen gnomAD |
|
|
rs372324408 CA3705499 |
38 | P>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3705500 rs764216780 |
39 | I>T | No |
ExAC TOPMed ClinGen |
|
|
CA363163853 rs1427839652 |
39 | I>V | No |
ClinGen gnomAD |
|
|
rs757215807 COSM1634711 CA3705502 |
41 | R>Q | liver [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
rs1351298268 CA363163876 |
41 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 42 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363163927 rs1448176404 |
44 | R>G | No |
ClinGen gnomAD |
|
|
CA363163934 rs1171077524 |
44 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA363163984 rs1381066402 |
47 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3705505 rs754861771 |
50 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1339996115 CA363164040 |
50 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs778848259 CA3705506 |
51 | L>Q | No |
ExAC gnomAD ClinGen |
|
|
rs1274686234 CA363164058 |
52 | R>Q | No |
TOPMed gnomAD ClinGen |
|
|
rs748157390 CA3705507 |
54 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA363164178 rs1473942534 |
58 | L>P | No |
TOPMed gnomAD ClinGen |
|
|
rs1390047879 CA363164185 |
59 | E>K | No |
gnomAD ClinGen |
|
|
rs770294709 CA3705511 |
61 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3705512 rs765011879 |
62 | I>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA136802912 rs1026397529 |
63 | A>T | No |
TOPMed ClinGen |
|
|
CA3705514 rs770206564 |
64 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs6926723 VAR_043730 RCV000432036 RCV000676481 CA3705513 |
64 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
|
CA136802925 rs770206564 |
64 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777785964 CA3705526 |
73 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3705527 rs548741773 |
76 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532144650 CA3705528 |
77 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA363164618 rs1345161254 |
78 | P>L | No |
gnomAD ClinGen |
|
| TCGA novel | 78 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3705529 rs780559658 |
80 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 82 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745577260 CA3705530 |
82 | V>A | No |
ExAC gnomAD ClinGen |
|
|
CA363164683 rs1382051011 |
82 | V>I | No |
ClinGen TOPMed |
|
|
CA363164740 rs1451565187 |
84 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1430480875 CA363164795 |
86 | I>S | No |
TOPMed ClinGen |
|
|
rs749683527 CA3705533 |
88 | T>A | No |
ExAC gnomAD ClinGen |
|
|
CA3705534 rs768882295 |
88 | T>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1458568879 CA363164944 |
91 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs774964773 CA3705535 |
91 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3705536 rs774964773 |
91 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458568879 CA363164946 |
91 | G>V | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 93 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773183174 CA3705538 |
95 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA3705551 rs769133275 |
99 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3705552 rs779132614 |
100 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs551232750 CA3705554 |
101 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773817248 CA363165237 |
102 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3705555 rs773817248 |
102 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363165260 rs1428486996 |
103 | A>V | No |
gnomAD ClinGen |
|
| TCGA novel | 105 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363165319 rs1351839609 |
106 | P>L | No |
ClinGen gnomAD |
|
|
rs1415235402 CA363165307 |
106 | P>S | No |
gnomAD ClinGen |
|
|
rs777030474 CA3705558 |
107 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1197094786 CA363165392 |
110 | E>K | No |
ClinGen TOPMed |
|
|
rs1340239459 CA363165422 |
111 | A>D | No |
ClinGen gnomAD |
|
|
rs372389658 CA136803275 |
111 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs1269173574 CA363165455 |
113 | W>* | No |
ClinGen TOPMed |
|
|
rs1267698090 CA363165483 |
114 | Y>F | No |
ClinGen gnomAD |
|
|
CA3705559 rs759669792 |
116 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs375621020 CA136803310 |
121 | G>D | No |
ESP ClinGen |
|
|
CA363165728 rs1250079725 |
127 | Y>H | No |
ClinGen TOPMed |
|
|
rs184436050 CA3705564 |
128 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760594580 CA3705584 |
130 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375535955 CA363165829 |
130 | R>W | No |
gnomAD ClinGen |
|
|
CA363165921 rs1289105856 |
135 | T>I | No |
ClinGen TOPMed |
|
|
CA363165953 rs1562447232 |
137 | E>G | No |
Ensembl ClinGen |
|
|
CA3705585 rs766247129 |
138 | T>N | No |
ExAC gnomAD ClinGen |
|
|
CA3705586 rs554382361 |
141 | M>T | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA3705588 rs778456975 |
142 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3705589 rs540014430 |
143 | I>M | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA363166129 rs1444546477 |
144 | P>L | No |
TOPMed ClinGen |
|
|
CA3705590 rs758725863 |
145 | P>H | No |
ExAC gnomAD ClinGen |
|
|
rs919804383 CA136803676 |
146 | P>H | No |
Ensembl ClinGen |
|
|
rs560210168 CA3705592 |
149 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1189970971 CA363166273 |
151 | S>F | No |
ClinGen TOPMed |
|
|
CA3705593 rs150863068 |
151 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781736453 CA3705594 |
156 | H>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs758010983 CA3705595 COSM1443179 |
157 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA363166317 rs1489418981 |
158 | L>R | No |
ClinGen TOPMed |
|
|
rs112867406 CA136803721 |
159 | T>M | No |
ClinGen Ensembl |
|
|
rs1176703749 CA363166319 |
159 | T>P | No |
ClinGen gnomAD |
|
|
CA3705597 rs775623758 |
160 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs369976906 CA3705598 |
161 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3705599 rs771913042 |
163 | Q>* | No |
ClinGen ExAC TOPMed |
|
|
rs771913042 CA363166341 |
163 | Q>E | No |
ClinGen ExAC TOPMed |
|
|
CA363166369 rs773735178 |
167 | V>L | No |
TOPMed gnomAD ClinGen |
|
|
CA136803744 rs773735178 |
167 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3705602 rs766338883 |
168 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3705603 rs776585917 |
168 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA136803904 rs905901318 |
169 | W>C | No |
TOPMed ClinGen |
|
|
rs1350121608 CA363166382 |
169 | W>S | No |
ClinGen gnomAD |
|
|
CA363166403 rs775077106 |
170 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3705628 rs763869786 |
171 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3705629 rs763869786 |
171 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1582173192 RCV000998551 |
173 | R>missing | No |
ClinVar dbSNP |
|
|
CA3705630 rs762317060 |
173 | R>C | No |
ExAC gnomAD ClinGen |
|
|
rs767892326 CA3705631 |
173 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3705633 rs756658278 |
178 | L>P | No |
ExAC gnomAD ClinGen |
|
|
rs1158199039 CA363166449 |
178 | L>V | No |
gnomAD ClinGen |
|
|
rs1331060662 CA363166469 |
181 | P>S | No |
gnomAD ClinGen |
|
|
CA3705634 rs780361236 |
182 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA3705636 rs755005121 |
183 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs753983802 CA3705635 |
183 | S>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363166481 rs755005121 |
183 | S>L | No |
ExAC gnomAD ClinGen |
|
|
CA3705637 rs779158062 |
185 | H>N | No |
ExAC gnomAD ClinGen |
|
|
rs1296872162 CA363166516 |
189 | A>S | No |
ClinGen gnomAD |
|
|
rs755093002 CA3705660 |
194 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA3705662 rs752978869 |
195 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs949180643 CA136804172 |
199 | W>C | No |
TOPMed gnomAD ClinGen |
|
|
rs981832473 CA136804173 |
201 | E>D | No |
TOPMed gnomAD ClinGen |
|
|
rs1445807948 CA363168165 |
201 | E>Q | No |
gnomAD ClinGen |
|
|
rs1242761387 RCV001312049 CA363168190 |
202 | R>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1333571243 CA3705664 |
202 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
rs1085307515 RCV000489734 |
203 | G>P | No |
ClinVar dbSNP |
|
|
RCV000676483 rs73430135 CA3705666 |
203 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs745703050 CA3705667 |
203 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1452708304 CA363168223 |
204 | V>L | No |
gnomAD ClinGen |
|
|
CA3705669 rs147382026 |
205 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3705668 rs147382026 |
205 | R>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs538723140 CA3705670 |
207 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139421487 CA3705671 |
208 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363168335 rs1158184499 |
208 | E>K | No |
gnomAD ClinGen |
|
|
CA363168431 rs1402354659 |
210 | S>N | No |
ClinGen gnomAD |
|
|
rs761340139 CA3705673 |
211 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3705674 rs771789552 |
212 | E>* | No |
ExAC gnomAD ClinGen |
|
|
CA3705675 rs772693212 |
212 | E>V | No |
ExAC gnomAD ClinGen |
|
|
CA363168491 rs1224464279 |
213 | A>G | No |
gnomAD ClinGen |
|
|
CA136804224 rs537794202 |
214 | F>C | No |
1000Genomes ClinGen |
|
|
CA363168557 rs1442749446 |
215 | L>V | No |
ClinGen TOPMed |
|
|
rs777192845 CA3705678 |
219 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs890631399 CA136804230 |
224 | A>T | No |
ClinGen Ensembl |
|
|
CA3705679 rs760026330 |
224 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886563176 CA136804851 |
226 | G>S | No |
Ensembl ClinGen |
|
|
rs771388647 CA3705698 |
227 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004903354 CA136804865 |
229 | I>F | No |
ClinGen Ensembl |
|
|
rs1204702737 CA363168946 |
231 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 232 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3705700 rs200635834 |
234 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA136804880 rs907185126 |
234 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA363169086 rs1442668714 |
239 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs763141082 CA3705704 |
241 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1428543465 CA363169114 |
241 | D>N | No |
gnomAD ClinGen |
|
|
rs1258512770 CA363169154 |
243 | D>N | No |
TOPMed ClinGen |
|
|
CA363169163 rs1200135419 |
243 | D>V | No |
ClinGen TOPMed |
|
|
CA3705705 rs764048308 |
244 | R>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363169177 rs764048308 |
244 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363169182 rs751875106 |
244 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3705706 COSM4153231 rs751875106 |
244 | R>Q | ovary [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
| TCGA novel | 251 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs965662843 CA136805127 |
253 | S>P | No |
ClinGen gnomAD |
|
|
CA3705729 rs765122679 |
254 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363169442 rs1184757001 |
256 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA3705730 rs752741337 |
257 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA3705731 rs758284428 |
260 | A>G | No |
ExAC gnomAD ClinGen |
|
|
rs758284428 CA363169471 |
260 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA3705732 rs777704045 |
261 | F>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs756703811 CA3705734 |
263 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
COSM595870 rs200002496 CA3705733 |
263 | R>W | lung [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs1179077789 CA363169499 |
265 | Y>F | No |
gnomAD ClinGen |
|
|
CA363169507 rs1422286440 |
266 | K>T | No |
gnomAD ClinGen |
|
|
rs776062047 CA3705736 |
267 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3705741 rs774874585 |
272 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs201492601 CA3705740 |
272 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762034910 CA3705742 |
273 | N>D | No |
ExAC gnomAD ClinGen |
|
|
rs1187783563 CA363169550 |
273 | N>K | No |
TOPMed ClinGen |
|
|
CA363169553 rs1443840809 |
274 | H>Y | No |
ClinGen TOPMed |
|
|
rs1343906248 CA363169560 |
275 | Q>E | No |
gnomAD ClinGen |
|
|
CA136805243 rs908038990 |
276 | L>P | No |
TOPMed ClinGen |
|
|
rs1215259868 CA363169582 |
278 | N>S | No |
ClinGen TOPMed |
|
|
rs1167926539 CA363169596 |
280 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3705743 rs772249772 |
281 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1226021358 CA363169623 |
284 | R>K | No |
ClinGen TOPMed |
|
|
rs760969326 CA3705745 |
286 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA136805275 rs940794077 |
287 | I>V | No |
ClinGen TOPMed |
|
|
rs374148426 CA3705746 COSM185210 |
288 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374148426 CA363169649 |
288 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1389125082 CA363169650 |
289 | D>N | No |
Ensembl ClinGen |
|
|
rs1393960687 CA363169662 |
290 | I>T | No |
TOPMed gnomAD ClinGen |
|
|
CA363169685 rs1288931637 |
292 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA363169700 rs1250624072 |
294 | N>D | No |
gnomAD ClinGen |
|
|
CA3705759 rs748662260 |
295 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs547643843 CA136805508 |
295 | R>W | No |
ClinGen gnomAD |
|
|
CA363169714 rs1420181985 |
296 | P>R | No |
ClinGen gnomAD |
|
|
rs1410671516 CA363169710 |
296 | P>T | No |
ClinGen gnomAD |
|
|
rs1383453180 CA363169719 |
297 | L>P | No |
gnomAD ClinGen |
|
|
CA136805516 rs1024434714 |
299 | G>D | No |
TOPMed gnomAD ClinGen |
|
|
rs1354189354 CA363169736 |
300 | H>R | No |
ClinGen gnomAD |
|
|
rs1256915652 CA363169741 |
301 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA136805518 rs903354569 |
301 | T>R | No |
ClinGen TOPMed |
|
|
CA363169751 rs1299638864 |
302 | Q>H | No |
ClinGen gnomAD |
|
|
rs1439703620 CA363169749 |
302 | Q>R | No |
ClinGen gnomAD |
|
|
rs1373852940 CA363169753 |
303 | L>I | No |
ClinGen gnomAD |
|
|
rs368291847 CA3705760 |
304 | R>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
RCV000498604 CA363169760 rs1312924156 |
304 | R>Q | No |
TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
rs1246102611 CA363169770 |
306 | P>S | No |
gnomAD ClinGen |
|
|
rs747022715 CA3705762 |
308 | C>R | No |
ExAC gnomAD ClinGen |
|
|
rs1206236831 CA363169782 |
308 | C>Y | No |
ClinGen gnomAD |
|
|
rs1481202293 CA363169795 |
310 | T>A | No |
ClinGen gnomAD |
|
|
rs1183445778 CA363169802 |
311 | P>H | No |
ClinGen gnomAD |
|
|
CA363169804 rs1183445778 |
311 | P>L | No |
gnomAD ClinGen |
|
|
CA363169801 rs1582179263 |
311 | P>S | No |
ClinGen Ensembl |
|
|
CA136805543 rs946672415 |
312 | V>M | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 313 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3705766 rs371998967 |
313 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 317 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363169851 rs1354896197 |
319 | S>Y | No |
ClinGen gnomAD |
|
|
CA3705768 rs201569238 |
320 | V>F | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA363169874 rs1334544360 |
323 | P>A | No |
gnomAD ClinGen |
|
|
rs527633192 CA3705770 |
324 | V>M | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1304273415 CA363169889 |
325 | D>G | No |
TOPMed gnomAD ClinGen |
|
|
CA363169890 rs1304273415 |
325 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1018785026 CA136805588 |
328 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 331 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 332 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281749566 CA363170306 |
332 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
rs747104390 CA3705779 |
333 | V>M | No |
ExAC gnomAD ClinGen |
|
|
CA363170355 rs1229154869 |
336 | T>N | No |
ClinGen Ensembl |
|
|
rs587777585 CA136807384 |
337 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363170410 rs1445298752 |
341 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs746096726 CA3705781 |
342 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA363170433 rs1480218238 |
343 | P>L | No |
gnomAD ClinGen |
|
|
rs768391837 CA3705782 |
344 | G>E | No |
ExAC gnomAD ClinGen |
|
|
rs1455831349 CA363170447 |
345 | D>N | No |
ClinGen TOPMed |
|
|
CA363170462 rs1248918563 |
346 | V>M | No |
TOPMed ClinGen |
|
|
CA3705786 rs773112651 |
350 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs760144186 CA3705787 |
353 | D>A | No |
ExAC gnomAD ClinGen |
|
|
CA136807414 rs564457017 |
353 | D>E | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
COSM185211 CA3705790 rs142164262 |
355 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA363170563 rs1485283019 |
355 | S>P | No |
TOPMed ClinGen |
|
|
rs753139152 CA3705792 |
356 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs778476528 CA3705794 |
356 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363170687 rs1195496427 |
359 | H>R | No |
ClinGen gnomAD |
|
|
rs374035061 CA363170716 |
361 | H>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs756098228 CA3705817 |
362 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs578118592 CA136808008 |
363 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3705818 rs780294879 |
363 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
rs749505903 CA3705819 |
366 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771911030 CA3705820 |
366 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs771911030 CA3705821 |
366 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363170774 rs1165856687 |
367 | H>P | No |
gnomAD ClinGen |
|
|
CA363170812 rs1449482372 |
370 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 372 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1327619913 CA363170845 |
373 | P>A | No |
TOPMed ClinGen |
|
|
CA3705823 rs770928999 |
375 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA363170928 rs1341206335 |
380 | Y>C | No |
TOPMed gnomAD ClinGen |
|
|
rs1391363617 CA363170956 |
383 | Q>E | No |
TOPMed ClinGen |
|
|
rs1452941965 CA363170971 |
384 | P>S | No |
TOPMed ClinGen |
|
| TCGA novel | 386 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3705825 rs140305500 |
388 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1477929941 CA363171037 |
389 | G>E | No |
gnomAD ClinGen |
|
|
rs1479664117 CA363171042 |
390 | A>V | No |
ClinGen gnomAD |
|
|
rs775155900 CA3705845 |
391 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050580407 CA136808239 |
392 | K>R | No |
TOPMed ClinGen |
|
|
rs1378746858 CA363171075 |
395 | P>A | No |
gnomAD ClinGen |
|
| TCGA novel | 395 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363171093 rs1453102693 |
396 | A>V | No |
gnomAD ClinGen |
|
|
rs1287162415 CA363171118 |
398 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3705846 rs748741951 |
399 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA363171150 rs1302781871 |
400 | A>T | No |
gnomAD ClinGen |
|
| TCGA novel | 400 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363171160 rs1343852500 |
401 | D>N | No |
TOPMed ClinGen |
|
|
rs1220757821 CA363171182 |
402 | A>T | No |
gnomAD ClinGen |
|
|
CA136808265 rs934216361 |
404 | M>L | No |
ClinGen Ensembl |
|
|
rs762287075 CA363171244 |
406 | A>P | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 406 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762287075 CA3705850 |
406 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs985673517 CA136808290 |
407 | R>* | No |
TOPMed gnomAD ClinGen |
|
|
rs1261957759 CA363172544 |
407 | R>P | No |
TOPMed gnomAD ClinGen |
|
|
rs1261957759 CA363172543 |
407 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA363172568 rs1488370894 |
409 | G>D | No |
TOPMed gnomAD ClinGen |
|
|
CA3705852 rs773826357 |
412 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1193319785 CA363172671 |
417 | A>V | No |
gnomAD ClinGen |
|
|
rs1157637439 CA363172729 |
422 | M>V | No |
gnomAD ClinGen |
|
|
rs1484765470 CA363172751 |
423 | T>I | No |
ClinGen TOPMed |
|
|
rs752826855 CA3705858 |
427 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3705859 rs146583972 |
428 | D>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363172834 rs2249459 |
430 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363172851 rs1334962732 |
431 | Q>R | No |
TOPMed ClinGen |
|
|
rs773451628 CA3705873 |
432 | G>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363172897 rs773451628 |
432 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3705875 rs201968413 |
435 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3705874 rs200287550 |
435 | R>W | No |
1000Genomes ExAC gnomAD ClinGen |
|
| TCGA novel | 437 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363172972 rs1271865013 |
439 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs867938374 CA136808407 |
439 | R>W | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 442 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759648085 CA3705878 |
447 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA136808423 rs1032729276 |
447 | S>R | No |
Ensembl ClinGen |
|
|
CA363173038 rs371072622 |
448 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363173032 rs1488514161 |
448 | E>K | No |
ClinGen TOPMed |
|
|
rs535246705 CA3705882 |
449 | W>* | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1473820705 CA363173048 |
450 | G>C | No |
gnomAD ClinGen |
|
|
rs1473820705 CA363173047 |
450 | G>S | No |
gnomAD ClinGen |
|
|
rs1029727547 CA363173067 |
453 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1029727547 CA136808450 |
453 | R>Q | No |
TOPMed gnomAD ClinGen |
|
|
rs764312184 CA3705884 |
453 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs750276761 CA3705885 |
454 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs755926246 CA3705886 |
455 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA363173088 rs1360329718 |
457 | N>D | No |
gnomAD ClinGen |
|
|
CA363173096 rs1448145651 |
458 | H>Y | No |
ClinGen gnomAD |
|
|
CA3705887 rs780191118 |
459 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1359385768 CA363173114 |
460 | M>I | No |
ClinGen gnomAD |
|
|
rs369444351 CA136808460 |
462 | L>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs149444062 CA3705889 |
466 | S>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1203513409 CA363173150 |
466 | S>N | No |
ClinGen gnomAD |
|
|
rs770282734 CA3705903 COSM3662363 |
467 | R>C | liver [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA363173182 rs1487390306 |
470 | D>N | No |
gnomAD ClinGen |
|
|
CA3705905 rs763051738 |
471 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA363173199 rs1490112627 |
472 | I>T | No |
gnomAD ClinGen |
|
|
rs1408202138 CA363173206 |
473 | E>G | No |
gnomAD ClinGen |
|
|
CA363173203 rs1196439639 |
473 | E>Q | No |
gnomAD ClinGen |
|
|
CA3705906 rs764246833 |
474 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
rs1157990101 CA363173251 |
479 | Q>H | No |
gnomAD ClinGen |
|
|
CA363173248 rs1478306971 |
479 | Q>P | No |
gnomAD ClinGen |
|
|
rs1478306971 CA363173249 |
479 | Q>R | No |
gnomAD ClinGen |
|
|
rs1421000597 CA363173256 |
480 | W>* | No |
ClinGen gnomAD |
|
|
CA363173255 rs1405078899 |
480 | W>R | No |
gnomAD ClinGen |
|
|
rs928007347 CA136808642 |
482 | V>A | No |
TOPMed ClinGen |
|
|
CA3705908 rs763274052 |
482 | V>I | No |
ExAC gnomAD ClinGen |
|
|
rs372098497 CA3705909 |
483 | R>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363173276 rs1321964910 |
483 | R>H | No |
TOPMed gnomAD ClinGen |
|
|
CA363173292 rs1437807552 |
485 | Q>L | No |
ClinGen gnomAD |
|
|
CA363173291 rs1437807552 |
485 | Q>R | No |
gnomAD ClinGen |
|
| TCGA novel | 485 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363173295 rs143821815 |
486 | E>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1443336808 CA363173303 |
487 | M>V | No |
ClinGen TOPMed |
|
|
CA363173313 rs1242439927 |
488 | G>E | No |
gnomAD ClinGen |
|
|
CA3705912 rs754873920 |
488 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA363173321 rs1258779173 |
489 | A>V | No |
ClinGen TOPMed |
|
|
RCV000733468 CA3705913 rs778868393 |
490 | R>* | No |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA3705914 rs752168449 |
490 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 491 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208344221 CA363173341 |
493 | K>R | No |
ClinGen gnomAD |
|
|
CA363173358 rs1189128323 |
494 | A>S | No |
TOPMed gnomAD ClinGen |
|
|
rs759325866 CA3705932 |
495 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA136808887 rs536485925 |
496 | E>D | No |
ClinGen TOPMed |
|
|
rs752647168 CA3705934 |
496 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3705935 rs368986102 |
497 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3705937 rs751016666 |
499 | A>G | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 499 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332634080 CA363173386 |
499 | A>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1332634080 CA363173384 |
499 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1315061097 CA363173393 |
500 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756911643 CA3705938 |
501 | E>K | No |
ClinGen ExAC |
|
|
CA3705939 rs546243979 |
502 | L>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA363173416 rs1276056067 |
504 | P>L | No |
ClinGen gnomAD |
|
|
rs910428369 CA136808909 |
504 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV000514934 RCV000429442 CA3705940 rs61746524 |
505 | S>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs371467248 CA3705941 |
506 | F>L | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1262451272 CA363173438 |
507 | H>Q | No |
ClinGen gnomAD |
|
|
CA363173469 rs1481963511 |
511 | W>* | No |
ClinGen gnomAD |
|
|
rs780467775 CA3705942 |
513 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA363173484 rs1201636650 |
513 | H>R | No |
gnomAD ClinGen |
|
|
rs1276446892 CA363173514 |
517 | H>R | No |
TOPMed ClinGen |
|
|
rs1446049456 CA363173522 |
518 | I>T | No |
gnomAD ClinGen |
|
|
rs1220664580 CA363173528 |
519 | G>E | No |
TOPMed ClinGen |
|
|
rs1267164875 CA363173556 |
521 | W>* | No |
TOPMed gnomAD ClinGen |
|
|
rs368106991 CA3705965 |
521 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3705966 rs772243922 |
523 | V>I | No |
ExAC gnomAD ClinGen |
|
|
CA3705967 rs773371829 |
524 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747238177 CA3705968 |
525 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA363173590 rs1157034288 |
527 | L>V | No |
ClinGen gnomAD |
|
|
rs1290735756 CA363173626 |
532 | Q>K | No |
TOPMed ClinGen |
|
|
rs868337758 CA136809040 |
534 | P>S | No |
ClinGen Ensembl |
|
|
rs571867636 CA3705970 |
538 | V>I | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs200004723 CA363173676 |
539 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200004723 CA3705972 |
539 | V>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1388375479 CA363173701 |
540 | E>D | No |
gnomAD ClinGen |
|
|
rs778691603 CA363173736 |
543 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA136809045 rs778691603 |
543 | A>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs778691603 CA3705973 |
543 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761726567 CA3705991 |
546 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268929160 CA363173807 |
547 | E>G | No |
ClinGen TOPMed |
|
|
CA3705992 rs771848003 |
549 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA363173821 rs1197313244 |
549 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA363173835 rs772808993 |
551 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs772808993 CA3705993 |
551 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3705997 COSM185213 rs765270010 |
554 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3705996 RCV000514593 rs377324441 |
554 | R>W | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA363173867 rs1312775491 |
556 | E>D | No |
ClinGen TOPMed |
|
|
CA3705998 RCV002064983 RCV000438548 rs55822421 |
557 | A>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs55822421 CA136809255 |
557 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363173879 rs1463937476 |
558 | E>D | No |
ClinGen gnomAD |
|
|
CA3705999 rs753050963 |
561 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA3706000 rs758975133 |
562 | V>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs773853718 CA3706005 |
567 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA363173933 rs773853718 |
567 | T>K | No |
ExAC gnomAD ClinGen |
|
|
rs768498360 CA3706006 |
568 | G>V | No |
ExAC gnomAD ClinGen |
|
|
CA3706007 rs778695440 |
569 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA363173952 rs1260603327 |
571 | G>R | No |
gnomAD ClinGen |
|
|
CA363173964 rs1466243135 |
573 | E>K | No |
TOPMed ClinGen |
|
|
rs1484326151 CA363173978 |
575 | T>A | No |
gnomAD ClinGen |
|
|
rs772999305 CA3706010 |
575 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1017596414 CA136809300 |
576 | L>V | No |
ClinGen TOPMed |
|
|
rs770339652 CA3706012 |
578 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384793588 CA363174014 |
579 | D>G | No |
ClinGen TOPMed |
|
|
CA363174020 rs1436384009 |
580 | P>S | No |
gnomAD ClinGen |
|
| TCGA novel | 583 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs538599447 CA3706034 |
588 | S>Y | No |
1000Genomes ExAC ClinGen |
|
|
rs1433905215 CA363174092 |
591 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 592 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764365531 CA3706036 |
593 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1456876673 CA363174124 |
596 | A>S | No |
ClinGen Ensembl |
|
|
CA363174131 rs1319747137 |
597 | L>P | No |
TOPMed ClinGen |
|
|
rs762240764 CA3706037 |
598 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1284692347 CA363174141 |
599 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA363174150 rs1163242494 |
600 | P>R | No |
ClinGen TOPMed |
|
|
rs939639980 CA136809460 |
600 | P>S | No |
TOPMed ClinGen |
|
|
rs1026216295 CA136809626 |
603 | T>A | No |
ClinGen TOPMed |
|
|
rs905318835 CA136809646 |
605 | D>E | No |
ClinGen Ensembl |
|
|
CA136809644 rs866748336 |
605 | D>N | No |
Ensembl ClinGen |
|
|
CA363174194 rs1182052841 |
605 | D>V | No |
ClinGen gnomAD |
|
|
rs1367571573 CA363174198 |
606 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1367571573 CA363174196 |
606 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1471622845 CA363174204 |
607 | A>S | No |
ClinGen gnomAD |
|
|
CA3706061 rs766432913 |
608 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868646476 CA136809668 |
610 | Y>* | No |
Ensembl ClinGen |
|
| rs771252187 | 612 | L>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363174236 rs1398181427 |
612 | L>Q | No |
gnomAD ClinGen |
|
|
CA3706068 COSM4153232 rs751331282 |
620 | D>N | ovary [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
| TCGA novel | 621 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA136809705 rs774476276 |
621 | L>P | No |
Ensembl ClinGen |
|
|
rs149734483 CA3706069 |
622 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363174320 rs1412990331 |
625 | W>* | No |
ClinGen TOPMed |
|
|
CA363174334 rs1195827727 |
627 | G>D | No |
gnomAD ClinGen |
|
|
rs1254895986 CA363174339 |
628 | R>C | No |
gnomAD ClinGen |
|
|
COSM185214 CA363174340 rs1440279658 |
628 | R>H | large_intestine [Cosmic] | No |
gnomAD ClinGen cosmic curated |
|
rs1189190098 CA363174347 |
629 | M>T | No |
ClinGen gnomAD |
|
|
CA363174390 rs1177289541 |
635 | Q>R | No |
TOPMed ClinGen |
|
|
rs144628280 CA3706073 |
637 | T>A | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1246919056 CA363174411 |
639 | Q>K | No |
ClinGen gnomAD |
|
|
CA363174433 rs1422062718 |
642 | F>Y | No |
gnomAD ClinGen |
|
|
CA3706075 rs748766651 |
644 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA363174463 CA363174464 rs1237489606 |
645 | V>L | No |
gnomAD ClinGen |
|
|
rs753807384 CA3706110 |
648 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265249957 CA363174498 |
650 | M>I | No |
gnomAD ClinGen |
|
|
rs865856017 CA363174494 CA363174493 |
650 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs865856017 CA136811109 |
650 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA363174503 rs1487757527 |
651 | V>F | No |
ClinGen gnomAD |
|
|
CA3706112 rs372855952 |
652 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA136811124 rs1046608828 |
653 | D>V | No |
ClinGen Ensembl |
|
|
rs566583539 CA3706113 |
654 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1385637748 CA363174529 |
655 | Q>H | No |
TOPMed ClinGen |
|
|
CA363174534 rs1184987852 |
656 | G>D | No |
TOPMed ClinGen |
|
|
CA3706114 rs538662804 |
657 | R>G | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs558356495 CA3706116 |
657 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs538662804 CA3706115 |
657 | R>W | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs757612444 CA3706117 |
658 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA363174569 rs1462946056 |
661 | K>N | No |
gnomAD ClinGen |
|
|
rs1366504148 CA363174567 |
661 | K>R | No |
ClinGen gnomAD |
|
|
CA3706119 rs746377238 |
669 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs770145709 CA3706120 |
670 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363174635 rs1350015359 |
672 | I>V | No |
ClinGen gnomAD |
|
|
CA363174659 rs1227397074 |
675 | G>E | No |
gnomAD ClinGen |
|
|
CA3706122 rs749340773 |
675 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363174664 rs1333232665 |
676 | V>L | No |
ClinGen gnomAD |
|
|
CA363174662 rs1333232665 |
676 | V>M | No |
ClinGen gnomAD |
|
|
rs1321432506 CA363174681 |
678 | M>R | No |
TOPMed ClinGen |
|
|
CA3706124 rs144112557 |
679 | Q>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363174717 rs1340375152 |
682 | Q>H | No |
gnomAD ClinGen |
|
|
rs1562459575 CA363174743 |
686 | R>T | No |
ClinGen Ensembl |
|
|
rs576986819 CA3706150 |
688 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3706151 rs761535299 |
689 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3706152 rs767038044 |
691 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs756413081 CA136811303 |
692 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA3706154 rs756413081 |
692 | P>T | No |
ExAC gnomAD ClinGen |
|
|
CA136811315 rs1020344584 |
693 | A>S | No |
TOPMed ClinGen |
|
| TCGA novel | 693 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3706155 rs115400306 |
697 | I>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1298331167 CA363174811 |
697 | I>V | No |
ClinGen TOPMed |
|
|
CA363174819 rs1242672358 |
698 | V>A | No |
ClinGen gnomAD |
|
|
CA363174815 rs1217829631 |
698 | V>M | No |
ClinGen gnomAD |
|
|
rs754381626 CA3706157 |
700 | A>E | No |
ExAC gnomAD ClinGen |
|
|
rs754381626 CA3706156 |
700 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs575936370 CA3706158 |
701 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA363174832 rs1191147481 |
701 | A>P | No |
ClinGen gnomAD |
|
|
CA363174831 rs1191147481 |
701 | A>T | No |
gnomAD ClinGen |
|
|
rs1355458021 CA363174876 |
705 | D>G | No |
gnomAD ClinGen |
|
|
rs749047148 CA363174889 |
707 | P>A | No |
ExAC gnomAD ClinGen |
|
|
rs749047148 CA3706184 |
707 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA136811472 rs769418161 |
708 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335425835 CA363174901 |
709 | G>R | No |
ClinGen gnomAD |
|
|
CA3706186 rs774134347 |
710 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs747737979 CA3706187 |
712 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs771480442 CA3706188 |
714 | G>E | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 720 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760405393 CA3706190 |
721 | T>I | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 722 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363174989 rs1206693303 |
723 | C>R | No |
TOPMed ClinGen |
|
|
CA136811508 rs1018005297 |
723 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs778474139 CA3706191 |
725 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA363175020 rs1010370253 |
728 | Q>* | No |
TOPMed gnomAD ClinGen |
|
|
CA136811512 rs1010370253 |
728 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3706212 rs370284242 |
729 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs764622748 CA3706214 |
730 | G>V | No |
ExAC gnomAD ClinGen |
|
|
CA3706215 rs751661981 |
731 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA363175059 rs1212663611 |
732 | L>S | No |
TOPMed gnomAD ClinGen |
|
|
CA363175102 rs1387288381 |
739 | V>I | No |
ClinGen TOPMed |
|
|
rs974926843 CA136811678 |
740 | Q>R | No |
ClinGen TOPMed |
|
|
COSM1443183 rs1486233746 CA363175132 |
743 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA16042546 rs1057518559 RCV000414668 COSM73245 |
743 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs761863698 CA3706216 |
745 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1193920089 CA363175155 |
746 | C>F | No |
ClinGen gnomAD |
|
|
CA363175153 rs1193920089 |
746 | C>Y | No |
gnomAD ClinGen |
|
|
rs767770438 CA3706218 |
753 | L>F | No |
ExAC gnomAD ClinGen |
|
|
rs767770438 CA3706217 |
753 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs754862639 CA3706219 |
754 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1244836047 CA363175210 |
754 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs752494108 CA3706221 |
758 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445189950 CA363175252 |
760 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs758286461 CA3706222 |
760 | L>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs777740791 CA3706223 |
761 | G>E | No |
ExAC gnomAD ClinGen |
|
|
CA3706225 rs199622377 |
764 | F>C | No |
ExAC TOPMed ClinGen |
|
|
CA363175280 CA136811755 rs200615252 |
764 | F>L | No |
TOPMed ClinGen |
|
|
rs199674956 CA136811800 |
765 | V>A | No |
ClinGen TOPMed |
|
|
rs55865499 CA136811798 |
765 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_061910 rs55865499 RCV000440067 CA3706227 |
765 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
|
CA363175285 rs1324558107 |
766 | P>A | No |
ClinGen gnomAD |
|
|
rs781047809 CA3706228 |
767 | Q>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs745527624 CA3706229 |
768 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA136811817 rs568311274 |
769 | A>T | No |
1000Genomes gnomAD ClinGen |
|
| TCGA novel | 770 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363175345 rs1562460984 |
773 | S>F | No |
Ensembl ClinGen |
|
|
CA136811909 rs1004072472 |
774 | P>L | No |
ClinGen Ensembl |
|
|
CA3706243 rs758176611 |
774 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA363175360 rs1224667076 COSM741425 |
776 | S>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs751528303 CA3706245 |
776 | S>P | No |
ClinGen ExAC gnomAD |
|
|
RCV000676496 rs183132980 CA3706247 |
777 | P>L | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA363175365 rs183132980 |
777 | P>Q | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA363175364 rs183132980 |
777 | P>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA363175375 rs1435047139 |
779 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745333751 CA3706248 |
780 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3706249 rs769354562 |
785 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs779735316 CA3706250 COSM303541 |
785 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1375943574 CA363175430 |
787 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1410779751 CA363175441 |
789 | A>T | No |
ClinGen gnomAD |
|
|
rs575947604 CA136811925 |
789 | A>V | No |
1000Genomes ClinGen |
|
|
CA3706253 rs368546838 |
792 | E>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs769063835 CA3706252 |
792 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176994677 CA363175498 |
793 | C>R | No |
TOPMed ClinGen |
|
|
CA136811937 rs372832216 |
793 | C>W | No |
ClinGen ESP |
|
|
CA3706255 rs541765907 |
795 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762324080 CA3706254 |
795 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3706256 rs773299024 |
796 | G>C | No |
ExAC gnomAD ClinGen |
|
|
CA363175541 rs773299024 |
796 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1253252571 CA363175560 |
797 | F>S | No |
ClinGen gnomAD |
|
|
CA136811969 rs989140254 |
799 | T>I | No |
ClinGen Ensembl |
|
|
CA3706258 rs766546304 |
800 | R>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1255146279 CA363175594 |
800 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3706259 rs575047657 |
801 | E>D | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1470418465 CA363175608 |
801 | E>G | No |
ClinGen TOPMed |
|
|
CA363175599 rs1476146057 |
801 | E>K | No |
ClinGen gnomAD |
|
|
rs1234243895 CA363175620 |
802 | L>F | No |
ClinGen TOPMed |
|
|
CA363175641 rs1418135349 |
803 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3706260 rs762714339 |
804 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs150474702 CA136811989 |
805 | V>I | No |
ClinGen ESP TOPMed |
|
|
rs757294151 CA3706263 |
806 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751330210 CA3706262 |
806 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363175729 rs1282826801 |
810 | H>P | No |
ClinGen TOPMed |
|
|
rs1282826801 CA363175731 |
810 | H>R | No |
TOPMed ClinGen |
|
|
CA136811995 rs945602496 |
810 | H>Y | No |
ClinGen Ensembl |
|
|
rs1285344291 CA363175746 |
811 | H>Y | No |
gnomAD ClinGen |
|
|
rs755620118 CA3706266 |
812 | F>L | No |
ExAC gnomAD ClinGen |
|
|
CA363175785 rs1243856969 |
813 | W>S | No |
gnomAD ClinGen |
|
|
CA3706267 rs201511329 |
816 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363175836 rs1343061807 |
817 | L>F | No |
gnomAD ClinGen |
|
|
CA363175890 rs1210687588 |
820 | V>G | No |
ClinGen gnomAD |
|
|
rs754570639 CA3706269 |
820 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA363175881 rs754570639 |
820 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1054979703 CA136812398 |
823 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs201774474 CA136812399 |
825 | V>G | No |
Ensembl ClinGen |
|
|
CA363176553 rs1448376851 |
825 | V>L | No |
ClinGen gnomAD |
|
|
rs1448376851 CA363176549 |
825 | V>M | No |
gnomAD ClinGen |
|
|
CA3706285 rs750373581 RCV000238912 |
827 | P>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM76981 CA3706287 rs765928958 |
828 | V>M | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3706289 rs138341222 |
832 | S>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs753223358 CA3706288 |
832 | S>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs748548544 CA3706291 |
833 | P>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363176675 rs748548544 |
833 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142520878 CA3706293 RCV000426536 |
834 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs142520878 CA3706292 |
834 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs747564856 CA3706295 |
834 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363176691 rs1437456998 |
835 | P>H | No |
gnomAD ClinGen |
|
|
rs776801508 CA3706296 |
835 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3706298 rs770191677 |
836 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1348345845 CA363176696 |
836 | L>V | No |
gnomAD ClinGen |
|
|
rs1194722310 CA363176718 |
838 | P>T | No |
ClinGen TOPMed |
|
|
rs935811374 CA136812448 |
839 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 840 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268646539 CA363176758 |
841 | V>F | No |
ClinGen gnomAD |
|
|
CA363176827 rs775824651 |
845 | C>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3706301 rs761767299 |
846 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA136812459 rs921016854 |
849 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3706304 rs569681423 |
851 | R>H | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3706306 rs753434252 |
855 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1406157639 CA363176947 |
856 | L>P | No |
gnomAD ClinGen |
|
|
rs1199850967 CA363176961 |
857 | M>R | No |
TOPMed ClinGen |
|
|
CA363177011 rs1582203140 |
861 | A>P | No |
ClinGen Ensembl |
|
|
rs200019717 CA3706311 |
862 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143473050 CA3706312 |
863 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs781529737 CA3706314 |
869 | P>A | No |
ExAC gnomAD ClinGen |
|
|
rs781529737 CA136812476 |
869 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1356501558 CA363177147 |
870 | P>S | No |
gnomAD ClinGen |
|
| TCGA novel | 871 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363177173 rs1270400704 |
872 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1270400704 CA363177170 |
872 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749538158 CA3706318 |
873 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 876 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA136812496 rs41273024 |
876 | P>S | No |
Ensembl ClinGen |
|
|
rs1562462787 CA363177245 |
880 | I>L | No |
Ensembl ClinGen |
|
|
CA3706320 rs773093985 |
881 | S>L | No |
ClinGen ExAC |
|
|
CA363177272 rs1377685585 |
884 | P>H | No |
ClinGen TOPMed |
|
|
CA363177270 rs1473189356 |
884 | P>S | No |
gnomAD ClinGen |
|
|
rs776424612 CA3706323 |
886 | P>R | No |
ExAC gnomAD ClinGen |
|
|
CA363177291 rs1431866685 |
887 | S>N | No |
ClinGen gnomAD |
|
|
CA363177296 rs752136645 |
888 | A>S | No |
ExAC gnomAD ClinGen |
|
|
rs752136645 CA3706326 |
888 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs888058651 CA136812799 |
893 | H>Q | No |
ClinGen Ensembl |
|
|
CA3706351 rs150792425 |
893 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363177361 rs1258140939 |
895 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
rs1205118546 CA363177364 |
896 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3706355 rs755005660 |
900 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs535630646 CA3706354 |
900 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA363177392 rs1259722131 |
900 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1452820166 CA363177398 |
901 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs755778663 CA3706356 |
901 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148172787 CA3706357 |
902 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs183762975 CA3706359 |
902 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs183762975 CA3706358 |
902 | R>L | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1390161125 CA363177419 |
905 | R>Q | No |
gnomAD ClinGen |
|
|
CA3706360 rs745611855 |
905 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435138495 CA363177422 |
906 | V>I | No |
gnomAD ClinGen |
|
|
CA3706362 rs775377403 |
907 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 909 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3706365 rs112853298 |
910 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761380290 CA3706366 |
915 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs767243407 CA3706367 |
916 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs773737253 CA3706368 |
917 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 918 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3706370 rs767057441 |
919 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA136812836 rs1028234445 |
924 | K>R | No |
ClinGen TOPMed |
|
|
rs755450437 CA3706372 |
925 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA363177546 rs752782070 |
926 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3706374 rs752782070 |
926 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3706373 rs765232509 |
926 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758570949 CA3706375 |
928 | R>* | No |
ExAC gnomAD ClinGen |
|
|
rs747794559 CA363177554 |
928 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747794559 CA3706376 |
928 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA136812954 rs564286769 |
930 | L>P | No |
TOPMed gnomAD ClinGen |
|
|
rs1306552193 CA363177597 |
933 | S>R | No |
gnomAD ClinGen |
|
|
CA136812961 rs528228333 |
935 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3706398 rs754896373 |
938 | D>E | No |
ExAC gnomAD ClinGen |
|
|
rs753631665 CA3706397 |
938 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs1197503021 CA363177642 |
940 | G>V | No |
ClinGen TOPMed |
|
|
rs1377661955 CA363177644 |
941 | L>F | No |
gnomAD ClinGen |
|
|
CA363177654 rs769740013 |
942 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373611555 CA136812969 |
942 | F>S | No |
ClinGen ESP |
|
|
rs1313548087 CA363177657 |
943 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs747655762 CA363177667 |
944 | A>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs747655762 CA3706401 |
944 | A>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363177670 rs1426870999 |
945 | F>L | No |
ClinGen gnomAD |
|
|
rs777355936 CA3706403 |
947 | E>G | No |
ExAC gnomAD ClinGen |
|
|
CA136812977 rs894573490 |
948 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA363177694 rs894573490 |
948 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
CA3706404 rs746661112 |
948 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA363177703 rs1343322246 |
950 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA363177700 rs1255262027 |
950 | G>S | No |
ClinGen gnomAD |
|
|
CA3706405 rs770663838 |
953 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418249739 CA363177743 |
956 | G>V | No |
ClinGen gnomAD |
|
|
CA363177760 rs1370132003 |
959 | G>A | No |
ClinGen gnomAD |
|
|
rs759920432 CA3706408 |
959 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1430755410 CA363177773 |
962 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA363177780 rs1357874351 |
963 | P>A | No |
ClinGen gnomAD |
|
|
VAR_043734 RCV000417759 rs2252863 CA3706409 RCV000676499 |
965 | A>T | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1374203633 CA363177795 |
965 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
rs776060602 CA3706410 |
966 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1582206942 CA363177814 |
969 | S>P | No |
Ensembl ClinGen |
|
|
rs528157661 CA3706412 |
970 | G>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1554269997 RCV000498516 CA363177829 |
971 | W>* | No |
Ensembl ClinGen ClinVar dbSNP |
|
|
rs111605478 CA136812997 |
971 | W>L | No |
Ensembl ClinGen |
|
|
rs1172760505 CA363177839 |
973 | Q>* | No |
ClinGen TOPMed |
|
|
rs751574143 CA3706413 |
975 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1233223910 CA363177866 |
977 | S>N | No |
gnomAD ClinGen |
|
|
rs1276255797 CA363177882 |
979 | T>K | No |
ClinGen gnomAD |
|
|
rs1276255797 CA363177884 |
979 | T>M | No |
ClinGen gnomAD |
|
|
rs1210796992 CA363177904 |
982 | V>D | No |
ClinGen gnomAD |
|
|
rs767732680 COSM2153317 CA136813007 |
983 | Y>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs767732680 CA3706415 |
983 | Y>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs753628300 CA3706416 |
984 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 985 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770182765 CA136813058 |
988 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3706426 rs770182765 |
988 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1237465186 CA363178027 |
989 | L>R | No |
ClinGen TOPMed |
|
|
rs1407823470 CA363178021 |
989 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
rs1340982532 CA363178037 |
990 | V>A | No |
gnomAD ClinGen |
|
|
CA363178028 rs1211254831 |
990 | V>M | No |
ClinGen TOPMed |
|
|
CA363178087 rs1389551265 |
993 | Q>H | No |
ClinGen gnomAD |
|
|
CA363178080 rs1161463592 |
993 | Q>P | No |
ClinGen gnomAD |
|
|
rs201758263 CA3706428 |
994 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363178169 rs1354450900 |
1000 | A>V | No |
ClinGen TOPMed |
|
|
CA136813076 rs756388943 |
1001 | A>P | No |
ClinGen gnomAD |
|
|
CA363178171 rs756388943 |
1001 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs908881657 RCV001893955 CA136813080 |
1002 | R>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs908881657 CA363178182 |
1002 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1358408461 CA363178250 |
1007 | Q>E | No |
TOPMed ClinGen |
|
|
rs919555262 CA136813087 |
1008 | K>R | No |
ClinGen Ensembl |
|
|
CA3706434 rs146014484 |
1009 | Q>R | No |
ESP ExAC gnomAD ClinGen |
|
| TCGA novel | 1010 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3706435 rs139921739 |
1011 | D>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs758429375 RCV000489697 CA3706437 |
1012 | S>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs751154041 CA3706439 |
1014 | T>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1472484356 CA363178366 |
1015 | A>S | No |
ClinGen gnomAD |
|
|
rs1161554576 CA363178372 |
1015 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
CA363178379 rs1406175907 |
1016 | R>K | No |
ClinGen gnomAD |
|
|
rs755655699 CA363178412 |
1018 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3706443 rs755655699 |
1018 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745549306 CA3706442 |
1018 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs780500926 CA363178419 |
1019 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA3706444 rs780500926 |
1019 | S>T | No |
ExAC gnomAD ClinGen |
|
|
CA363178462 rs1241917151 |
1022 | E>G | No |
gnomAD ClinGen |
|
|
CA363178481 rs371093969 |
1023 | A>G | No |
ESP ExAC gnomAD ClinGen |
|
|
CA3706445 rs371093969 |
1023 | A>V | No |
ESP ExAC gnomAD ClinGen |
|
|
CA363178529 rs1213689531 |
1027 | R>G | No |
gnomAD ClinGen |
|
|
CA363178546 rs1274344346 |
1028 | Q>P | No |
ClinGen gnomAD |
|
|
CA3706468 rs747034589 |
1032 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771223300 CA3706469 |
1034 | L>F | No |
ExAC gnomAD ClinGen |
|
|
CA3706470 rs776987270 |
1041 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1044 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464466915 CA363178903 |
1045 | A>G | No |
gnomAD ClinGen |
|
|
rs1464466915 CA363178905 |
1045 | A>V | No |
gnomAD ClinGen |
|
|
CA363178938 rs1402855809 |
1047 | H>R | No |
ClinGen gnomAD |
|
|
CA363178955 rs1456199793 |
1048 | L>F | No |
gnomAD ClinGen |
|
|
rs4678 VAR_043735 RCV000676501 CA3706473 RCV000439193 |
1049 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
|
CA3706472 rs768584449 |
1049 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs918881062 CA136813208 |
1050 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs761841915 CA3706474 |
1053 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1257411600 CA363179065 |
1053 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1054 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3706476 rs148922679 |
1056 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1057 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363179188 rs1266390039 |
1060 | S>N | No |
ClinGen gnomAD |
|
|
CA3706477 rs760074789 |
1061 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363179213 rs760074789 |
1061 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367912184 CA363179234 |
1062 | E>G | No |
ClinGen TOPMed |
1 associated diseases with Q5ST30
[MIM: 615917]: Combined oxidative phosphorylation deficiency 20 (COXPD20)
A disorder due to mitochondrial respiratory chain complex defects. Clinical features are variable and include muscle weakness with hypotonia, central neurological disease with progressive external ophthalmoplegia, ptosis and ataxia, delayed psychomotor development, cardiomyopathy, abnormal liver function, facial dysmorphism, microcephaly and epilepsy. {ECO:0000269|PubMed:24827421, ECO:0000269|PubMed:25058219}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder due to mitochondrial respiratory chain complex defects. Clinical features are variable and include muscle weakness with hypotonia, central neurological disease with progressive external ophthalmoplegia, ptosis and ataxia, delayed psychomotor development, cardiomyopathy, abnormal liver function, facial dysmorphism, microcephaly and epilepsy. {ECO:0000269|PubMed:24827421, ECO:0000269|PubMed:25058219}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q5ST30
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Aminoacyl-tRNA synthetase, class I, conserved site | 146 - 157 | IPR001412 |
| domain | Aminoacyl-tRNA synthetase, class Ia | 113 - 731 | IPR002300 |
| domain | Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding | 779 - 927 | IPR013155 |
| domain | Valyl tRNA synthetase, anticodon-binding domain | 734 - 868 | IPR033705 |
Functions
| Description | ||
|---|---|---|
| EC Number | 6.1.1.9 | Ligases forming aminoacyl-tRNA and related compounds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 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. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| aminoacyl-tRNA editing activity | The hydrolysis of an incorrectly aminoacylated tRNA. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| valine-tRNA ligase activity | Catalysis of the reaction: L-valine + ATP + tRNA(Val) = L-valyl-tRNA(Val) + AMP + diphosphate + 2 H(+). |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| valyl-tRNA aminoacylation | The process of coupling valine to valyl-tRNA, catalyzed by valyl-tRNA synthetase. The valyl-tRNA synthetase is a class-I synthetase. The activated amino acid is transferred to the 2'-OH group of a valine-accetping tRNA. The 2'-O-aminoacyl-tRNA will ultimately migrate to the 3' position via transesterification. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P07118 | valS | Valine--tRNA ligase | Escherichia coli (strain K12) | PR |
| P26640 | VARS1 | Valine--tRNA ligase | Homo sapiens (Human) | PR |
| Q9Z1Q9 | Vars1 | Valine--tRNA ligase | Mus musculus (Mouse) | PR |
| Q04462 | Vars1 | Valine--tRNA ligase | Rattus norvegicus (Rat) | PR |
| Q5TM74 | VARS2 | Valine--tRNA ligase, mitochondrial | Macaca mulatta (Rhesus macaque) | PR |
| Q9U1Q4 | glp-4 | Valine--tRNA ligase | Caenorhabditis elegans | PR |
| P93736 | TWN2 | Valine--tRNA ligase, mitochondrial 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPHLPLASFR | PPFWGLRHSR | GLPRFHSVST | QSEPHGSPIS | RRNREAKQKR | LREKQATLEA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EIAGESKSPA | ESIKAWRPKE | LVLYEIPTKP | GEKKDVSGPL | PPAYSPRYVE | AAWYPWWVRE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GFFKPEYQAR | LPQATGETFS | MCIPPPNVTG | SLHIGHALTV | AIQDALVRWH | RMRGDQVLWV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PGSDHAGIAT | QAVVEKQLWK | ERGVRRHELS | REAFLREVWQ | WKEAKGGEIC | EQLRALGASL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DWDRECFTMD | VGSSVAVTEA | FVRLYKAGLL | YRNHQLVNWS | CALRSAISDI | EVENRPLPGH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TQLRLPGCPT | PVSFGLLFSV | AFPVDGEPDA | EVVVGTTRPE | TLPGDVAVAV | HPDDSRYTHL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HGRQLRHPLM | GQPLPLITDY | AVQPHVGTGA | VKVTPAHSPA | DAEMGARHGL | SPLNVIAEDG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TMTSLCGDWL | QGLHRFVARE | KIMSVLSEWG | LFRGLQNHPM | VLPICSRSGD | VIEYLLKNQW |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FVRCQEMGAR | AAKAVESGAL | ELSPSFHQKN | WQHWFSHIGD | WCVSRQLWWG | HQIPAYLVVE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DHAQGEEDCW | VVGRSEAEAR | EVAAELTGRP | GAELTLERDP | DVLDTWFSSA | LFPFSALGWP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QETPDLARFY | PLSLLETGSD | LLLFWVGRMV | MLGTQLTGQL | PFSKVLLHPM | VRDRQGRKMS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KSLGNVLDPR | DIISGVEMQV | LQEKLRSGNL | DPAELAIVAA | AQKKDFPHGI | PECGTDALRF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TLCSHGVQAG | DLHLSVSEVQ | SCRHFCNKIW | NALRFILNAL | GEKFVPQPAE | ELSPSSPMDA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| WILSRLALAA | QECERGFLTR | ELSLVTHALH | HFWLHNLCDV | YLEAVKPVLW | HSPRPLGPPQ |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VLFSCADLGL | RLLAPLMPFL | AEELWQRLPP | RPGCPPAPSI | SVAPYPSACS | LEHWRQPELE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| RRFSRVQEVV | QVLRALRATY | QLTKARPRVL | LQSSEPGDQG | LFEAFLEPLG | TLGYCGAVGL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LPPGAAAPSG | WAQAPLSDTA | QVYMELQGLV | DPQIQLPLLA | ARRYKLQKQL | DSLTARTPSE |
| 1030 | 1040 | 1050 | 1060 | ||
| GEAGTQRQQK | LSSLQLELSK | LDKAASHLRQ | LMDEPPAPGS | PEL |