Q96M29
PR
Gene name |
TEKT5 |
Protein name |
Tektin-5 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:146279 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q96M29
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96M29-F1 | Predicted | AlphaFoldDB |
630 variants for Q96M29
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA7898631 rs148973444 |
2 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760617588 CA7898632 |
2 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749480270 CA7898629 |
4 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394721581 rs1476903813 |
7 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 8 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394721567 rs1596426791 |
9 | T>P | No |
ClinGen Ensembl |
|
|
rs367588375 CA394721560 |
10 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7898627 rs367588375 |
10 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1046903050 CA277664681 |
10 | A>V | No |
ClinGen Ensembl |
|
|
CA7898625 rs117824981 |
11 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766124558 CA277664670 |
11 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394721546 rs1324102466 |
12 | Y>C | No |
ClinGen TOPMed |
|
|
rs755511541 CA394721542 |
13 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407757351 CA394721538 COSM1375766 |
13 | C>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA7898624 rs755511541 COSM1375766 |
13 | C>S | large_intestine Variant assessed as Somatic; 5.003e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1302551100 CA394721521 |
14 | G>D | No |
ClinGen gnomAD |
|
|
rs898432006 CA277664657 |
15 | P>R | No |
ClinGen Ensembl |
|
|
CA7898623 rs752056727 |
15 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7898622 rs780295961 |
16 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7898621 rs758864029 |
18 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1359520346 CA394721451 |
19 | C>* | No |
ClinGen gnomAD |
|
| TCGA novel | 20 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761523974 CA7898619 CA7898618 |
21 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7898620 rs539801735 |
21 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394721434 rs1295766967 |
21 | L>V | No |
ClinGen gnomAD |
|
|
CA277664628 rs1029331006 |
22 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA277664615 rs1038717471 |
23 | S>L | No |
ClinGen TOPMed |
|
|
CA7898617 rs753426811 |
26 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394721376 rs1478244148 |
26 | A>V | No |
ClinGen gnomAD |
|
|
CA7898615 rs61731533 |
27 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7898616 COSM471283 rs61731533 |
27 | V>L | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs775435448 CA394721362 |
28 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898614 rs775435448 |
28 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898612 rs200938027 |
29 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7898613 rs200938027 |
29 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA394721324 rs1252996556 |
31 | V>E | No |
ClinGen TOPMed |
|
|
COSM471282 rs145065368 CA7898609 |
32 | I>V | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs534172918 CA7898608 |
33 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394721295 rs1275884315 |
34 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA277664554 rs1045841037 |
35 | C>W | No |
ClinGen TOPMed |
|
|
rs768724310 CA7898607 |
35 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs145995713 CA7898606 |
36 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394721272 rs1464430320 |
37 | Q>R | No |
ClinGen gnomAD |
|
|
CA394721264 rs1567238983 |
38 | P>R | No |
ClinGen Ensembl |
|
|
CA394721261 rs1402398854 |
39 | Y>H | No |
ClinGen gnomAD |
|
|
rs1171078212 CA394721254 |
40 | Y>N | No |
ClinGen gnomAD |
|
|
CA7898604 rs758807516 |
40 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898602 rs779377809 |
41 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7898601 rs756990085 |
42 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753479766 CA7898600 |
42 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394721232 rs756990085 |
42 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898597 rs752138111 |
43 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898598 rs147424322 |
43 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7898596 rs767542553 |
44 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394721190 rs767542553 |
44 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898594 COSM375399 rs142595093 |
45 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200168785 CA7898592 |
45 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200168785 CA7898593 |
45 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7898590 rs768747385 |
46 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA394721159 rs1596426592 |
46 | Y>S | No |
ClinGen Ensembl |
|
|
rs201566192 CA277664495 |
48 | N>H | No |
ClinGen TOPMed |
|
|
CA7898589 rs747160790 |
48 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775399180 CA7898588 |
50 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1267727215 CA394721086 |
50 | W>C | No |
ClinGen gnomAD |
|
|
CA7898587 rs537584058 |
51 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs537584058 CA394721067 |
51 | R>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394721065 CA277664479 rs960459957 |
51 | R>S | No |
ClinGen Ensembl |
|
|
rs746325602 CA7898586 |
52 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs779429901 CA7898585 |
53 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA7898584 rs757625324 |
53 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1164394629 CA394721029 |
54 | L>F | No |
ClinGen gnomAD |
|
|
CA394720997 rs1248789972 |
56 | Y>* | No |
ClinGen gnomAD |
|
|
rs1457714250 CA394721001 |
56 | Y>C | No |
ClinGen gnomAD |
|
|
CA7898581 rs370606973 |
56 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1189635404 CA394720983 |
57 | K>N | No |
ClinGen TOPMed |
|
|
CA7898580 VAR_053722 rs16957557 |
59 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7898579 rs144083324 |
60 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144083324 CA394720942 |
60 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138126929 CA7898577 |
61 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA277664438 rs1006799279 |
62 | Q>* | No |
ClinGen TOPMed |
|
|
CA277664431 rs138829814 |
62 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762793466 CA7898575 |
63 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394720902 rs1596426500 |
63 | T>P | No |
ClinGen Ensembl |
|
|
CA7898573 rs764416077 |
64 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370793376 CA7898572 |
65 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746378818 CA7898569 |
67 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA277664394 rs933294643 |
68 | S>N | No |
ClinGen Ensembl |
|
|
rs1178412435 CA394720801 |
69 | T>A | No |
ClinGen Ensembl |
|
|
rs1178412435 CA394720800 |
69 | T>S | No |
ClinGen Ensembl |
|
|
rs771555077 CA7898567 |
70 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA277664392 rs547596676 |
70 | S>I | No |
ClinGen Ensembl |
|
|
rs1439567416 CA394720765 |
71 | T>I | No |
ClinGen gnomAD |
|
|
rs1439567416 CA394720768 |
71 | T>S | No |
ClinGen gnomAD |
|
|
rs1596426444 CA394720754 |
72 | L>R | No |
ClinGen Ensembl |
|
|
rs188767452 CA7898564 |
73 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7898565 rs529988349 |
73 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747708531 CA7898563 COSM1375764 |
74 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7898561 rs754419090 |
75 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA394720712 rs1286041004 |
76 | T>A | No |
ClinGen gnomAD |
|
|
CA7898558 rs758299679 |
77 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7898559 rs373033166 |
77 | I>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs760961833 CA394720696 |
79 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760961833 CA7898554 |
79 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898553 rs142727515 |
80 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756381587 CA7898552 |
80 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7898550 rs774554761 COSM1375763 |
82 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1419137348 COSM966928 CA394720680 |
82 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs562999098 CA7898548 |
84 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 84 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394720661 rs1197734831 |
85 | L>P | No |
ClinGen gnomAD |
|
|
rs748422232 CA7898547 |
85 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769997652 CA7898546 |
86 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3690724 CA7898545 rs138237208 |
88 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA394720624 rs138237208 |
88 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7898543 rs768273976 COSM1375762 |
88 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7898544 rs768273976 |
88 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs114720466 CA7898541 |
89 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7898542 rs746561879 |
89 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA7898540 rs758352729 |
90 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 90 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 92 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7898539 rs750267508 |
92 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 92 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1016723533 CA277664198 |
93 | D>N | No |
ClinGen gnomAD |
|
|
rs140611790 CA7898537 |
94 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7898536 rs151297766 |
96 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1336252036 CA394720488 |
96 | Q>H | No |
ClinGen gnomAD |
|
|
CA7898535 rs767904225 |
96 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1249989730 CA394720482 |
97 | S>A | No |
ClinGen TOPMed |
|
|
CA394720481 rs759804960 |
97 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898534 rs759804960 |
97 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751722907 CA7898533 |
101 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs143356838 CA7898531 COSM3782923 |
103 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7898530 rs201724934 |
103 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1474222886 CA394720354 |
104 | G>E | No |
ClinGen gnomAD |
|
|
CA7898529 rs377726693 |
105 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200592055 CA7898526 |
106 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1434877058 CA394720338 |
106 | E>A | No |
ClinGen TOPMed |
|
|
rs200592055 CA7898525 |
106 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1200504386 CA394720325 |
107 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1200504386 CA394720329 |
107 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7898524 rs149055157 |
107 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394720309 rs9922129 |
109 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA277664082 rs138706108 |
109 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138706108 CA7898520 |
109 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7898522 rs9922129 |
109 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1335297998 CA394720295 |
111 | W>C | No |
ClinGen gnomAD |
|
|
CA7898517 rs755276061 |
111 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1401389432 CA394720292 |
112 | A>D | No |
ClinGen gnomAD |
|
|
rs1401389432 CA394720291 |
112 | A>G | No |
ClinGen gnomAD |
|
|
rs751775967 CA7898516 |
112 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407806938 CA394720285 |
113 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394720286 rs1407806938 |
113 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7898513 rs376875323 |
114 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7898514 rs758474827 |
114 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898511 rs369383645 |
115 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394720275 rs369383645 |
115 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139407466 CA7898509 |
116 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7898510 rs139407466 |
116 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775187217 CA7898507 |
118 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA7898506 rs745414765 |
118 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350917495 CA394720261 |
118 | D>H | No |
ClinGen TOPMed |
|
|
rs773883675 CA7898504 |
119 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs749202819 CA7898502 |
120 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1358810132 CA394720243 |
121 | R>G | No |
ClinGen gnomAD |
|
|
CA277663972 rs755907836 |
124 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394720223 rs755907836 |
124 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898500 rs755907836 |
124 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780481655 CA7898495 |
127 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7898498 rs747954724 |
127 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs758625116 CA7898494 |
129 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs147774715 CA7898493 |
130 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1596426165 CA394720176 |
131 | H>P | No |
ClinGen Ensembl |
|
|
rs757716080 CA7898491 |
131 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1175452968 CA394720158 |
133 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs754275759 CA7898490 |
133 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1440183766 CA394720163 |
133 | M>V | No |
ClinGen gnomAD |
|
|
CA7898489 rs115002749 |
134 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1596426149 CA394720152 |
134 | Q>R | No |
ClinGen Ensembl |
|
|
rs1222495956 CA394720135 |
136 | G>A | No |
ClinGen gnomAD |
|
|
rs1222495956 CA394720137 |
136 | G>V | No |
ClinGen gnomAD |
|
|
CA7898486 rs200520610 |
137 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA277663927 rs200520610 |
137 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775806753 CA7898487 |
137 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775806753 CA277663935 |
137 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200520610 CA394720133 |
137 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394720129 rs1354548755 |
138 | C>Y | No |
ClinGen gnomAD |
|
|
CA7898484 rs773758386 |
139 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7898485 rs759192148 |
139 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770419905 CA7898483 |
141 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747178856 CA277663908 |
143 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1236917541 CA394720082 |
145 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs773351217 CA7898481 |
146 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs182259799 CA7898480 |
146 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394720079 rs773351217 |
146 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs781092838 CA7898478 |
148 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156826561 CA394720068 |
148 | I>V | No |
ClinGen gnomAD |
|
|
CA394720052 rs1190427174 |
150 | F>S | No |
ClinGen gnomAD |
|
|
rs972361373 CA277663866 |
152 | K>N | No |
ClinGen TOPMed |
|
|
CA7898476 rs746041879 |
153 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394720010 rs1226335435 |
156 | S>N | No |
ClinGen TOPMed |
|
|
rs1295270393 COSM368071 CA394720007 |
156 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA7898473 rs189265602 |
157 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs189265602 CA394720001 |
157 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1567238741 CA394719998 |
158 | E>K | No |
ClinGen Ensembl |
|
|
CA277663846 rs1014515428 |
160 | D>G | No |
ClinGen TOPMed |
|
|
rs1311954647 CA394719981 |
160 | D>N | No |
ClinGen gnomAD |
|
|
rs1314478018 CA394719963 |
161 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs61731535 CA277663839 |
161 | R>S | No |
ClinGen Ensembl |
|
|
CA394719957 rs1462247760 |
161 | R>T | No |
ClinGen TOPMed |
|
|
rs201314662 CA7898471 |
162 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7898470 rs753095505 |
164 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767878357 CA7898469 |
164 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1400294953 CA394719883 |
166 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs903956944 CA277663821 |
167 | Q>R | No |
ClinGen Ensembl |
|
|
CA394719851 rs1360659779 |
168 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394719832 rs141349037 |
171 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7898465 rs141349037 |
171 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs560148417 CA7898466 |
171 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200113019 CA7898462 |
172 | V>G | No |
ClinGen 1000Genomes ExAC |
|
|
rs769893998 CA7898463 |
172 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA394719822 rs1261058732 |
173 | K>N | No |
ClinGen gnomAD |
|
|
rs768429949 CA7898460 |
173 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs768429949 CA7898459 |
173 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1484503074 CA394719810 |
175 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394719812 rs1484503074 |
175 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs746774904 CA7898458 |
175 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898456 rs148185751 |
177 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1271667124 CA394719804 |
177 | E>K | No |
ClinGen TOPMed |
|
|
rs749405752 CA394719796 |
178 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749405752 CA7898455 |
178 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756640334 CA7898453 |
179 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898452 COSM3402054 rs370491307 |
179 | A>V | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA394719785 rs1443856673 |
180 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs373418548 CA7898450 |
181 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373418548 CA394719777 |
181 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394719778 rs1245530904 |
181 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs751858103 CA394719772 |
182 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898449 rs751858103 |
182 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394719761 rs1450443729 |
183 | V>A | No |
ClinGen gnomAD |
|
|
rs1335985350 CA394719764 |
183 | V>L | No |
ClinGen gnomAD |
|
|
rs1183586300 CA394719760 |
184 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA394719757 rs1331807793 |
184 | N>S | No |
ClinGen gnomAD |
|
|
rs146083051 CA7898446 |
186 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7898444 rs776697038 |
188 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394719728 rs1168655525 |
188 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs968501782 CA277658450 |
189 | V>L | No |
ClinGen Ensembl |
|
|
CA277658435 rs968748250 |
190 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1361614544 CA394719231 |
191 | L>F | No |
ClinGen TOPMed |
|
|
CA394719234 rs1257495977 |
191 | L>S | No |
ClinGen gnomAD |
|
|
CA277658416 rs757535268 |
191 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs756825146 CA7898409 |
192 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282867034 CA394719220 |
193 | C>Y | No |
ClinGen gnomAD |
|
|
rs16957546 CA7898407 VAR_053723 |
196 | H>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM1228909 CA7898406 rs756093532 |
197 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs745599386 CA277658381 |
197 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394719194 rs745599386 |
197 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7898404 rs767441494 CA7898405 |
198 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs759388297 CA7898403 |
199 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1281115822 CA394719183 |
199 | K>R | No |
ClinGen TOPMed |
|
|
rs1012803942 CA277658350 |
200 | R>G | No |
ClinGen Ensembl |
|
|
CA7898402 rs774112162 |
201 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs147193362 CA7898401 |
202 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA277658338 rs1019543441 |
202 | G>R | No |
ClinGen TOPMed |
|
|
rs538774960 CA7898400 |
203 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394719162 rs1173811476 |
203 | I>V | No |
ClinGen gnomAD |
|
|
CA7898397 rs760802490 |
208 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA394719124 rs1444816318 |
208 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA277658271 rs1035266014 |
209 | N>D | No |
ClinGen TOPMed |
|
|
CA7898395 rs772683719 |
210 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394719103 rs1221852163 |
211 | E>D | No |
ClinGen gnomAD |
|
|
CA7898394 rs746270790 |
211 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1596422659 CA394719093 |
213 | N>H | No |
ClinGen Ensembl |
|
|
CA277658235 rs368648709 |
213 | N>K | No |
ClinGen Ensembl |
|
|
CA394719085 rs1341763057 |
214 | L>F | No |
ClinGen gnomAD |
|
|
rs1341763057 CA394719087 |
214 | L>I | No |
ClinGen gnomAD |
|
|
CA7898392 rs770636642 |
216 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7898393 rs779375935 COSM1678835 |
216 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs760121480 CA7898356 |
217 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767645978 CA7898358 |
217 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898357 rs767645978 |
217 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898355 rs775067809 |
219 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA277657029 rs267604404 |
219 | D>N | No |
ClinGen Ensembl |
|
|
CA7898352 rs369756484 |
222 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773595378 CA7898351 |
223 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA7898350 rs201390814 |
223 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs866026275 CA277657002 |
224 | C>F | No |
ClinGen Ensembl |
|
|
CA394718991 rs1208903679 |
225 | Q>E | No |
ClinGen TOPMed |
|
|
CA7898349 rs747751146 |
226 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA394718962 rs1567237049 |
228 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs776133960 CA7898348 |
230 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs768220553 CA394718931 |
233 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768220553 CA7898347 |
233 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA277656991 rs746446068 |
234 | R>G | No |
ClinGen Ensembl |
|
|
rs540881127 CA7898346 |
234 | R>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7898345 rs779903766 |
234 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA7898342 rs778717099 |
237 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs149425190 CA7898343 |
237 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758325448 CA7898344 |
237 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs756415821 CA7898341 |
238 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17684500 VAR_053724 CA7898340 |
239 | M>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA277656904 COSM3402053 rs1011918094 |
240 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs373274862 CA7898339 |
240 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7898303 rs770974150 |
241 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs200608852 CA7898301 |
243 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs141029189 CA7898302 |
243 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1306414128 CA394718605 |
244 | D>G | No |
ClinGen gnomAD |
|
|
rs769022037 CA7898300 |
244 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA394718607 rs769022037 |
244 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs147720864 CA7898299 |
245 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394718600 rs147720864 |
245 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780003869 CA7898298 |
246 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs758572076 CA7898297 |
247 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA394718578 rs1375273325 |
248 | V>A | No |
ClinGen gnomAD |
|
|
rs1375273325 CA394718579 |
248 | V>E | No |
ClinGen gnomAD |
|
|
rs764879505 COSM1301615 CA7898295 |
248 | V>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA277642129 rs920567768 |
250 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 251 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462747617 CA394718563 |
251 | R>W | No |
ClinGen gnomAD |
|
|
rs764380475 CA7898292 |
252 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764380475 CA394718557 |
252 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540818876 CA277642092 |
254 | E>D | No |
ClinGen 1000Genomes |
|
|
CA7898289 rs761518800 |
254 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394718544 rs761518800 |
254 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141275094 CA7898288 |
255 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs940590591 CA277642087 |
255 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA394718538 rs940590591 |
255 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs773970525 CA7898287 |
256 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394718522 rs1253197378 |
257 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs201720148 CA7898286 |
257 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394718521 rs1253197378 |
257 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1480136090 CA394718513 |
258 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs147771395 CA7898283 |
259 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7898281 rs780370256 |
260 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746711728 CA277642035 |
261 | C>F | No |
ClinGen Ensembl |
|
|
CA7898279 rs138988373 |
261 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746711728 CA394718479 |
261 | C>Y | No |
ClinGen Ensembl |
|
|
CA7898276 rs544288612 |
263 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs544288612 CA7898277 |
263 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs887269131 CA277642017 |
263 | D>V | No |
ClinGen Ensembl |
|
|
rs778245744 CA7898275 |
265 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs879793949 CA277642004 |
266 | C>G | No |
ClinGen Ensembl |
|
|
rs145053307 CA7898274 |
266 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394718378 rs1430949443 |
267 | F>L | No |
ClinGen TOPMed |
|
|
CA394718362 rs1406790444 |
268 | N>H | No |
ClinGen gnomAD |
|
|
CA7898273 rs752984188 |
269 | L>P | No |
ClinGen ExAC |
|
|
CA394718317 rs1456896365 |
271 | N>S | No |
ClinGen gnomAD |
|
|
COSM1375759 rs201580847 CA7898270 |
272 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1249104542 CA394718269 |
274 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394718276 rs1240664804 |
274 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1240664804 CA394718274 |
274 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 275 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394718237 rs1567235314 |
276 | I>L | No |
ClinGen Ensembl |
|
|
rs765929515 CA7898268 |
277 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA394718204 rs200908743 |
277 | S>R | No |
ClinGen gnomAD |
|
|
rs1326345135 CA394718213 |
277 | S>T | No |
ClinGen TOPMed |
|
|
CA394718186 rs1567235310 |
278 | F>L | No |
ClinGen Ensembl |
|
|
CA7898267 rs762989122 |
279 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139254890 CA7898266 |
280 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA277641944 rs149962577 |
280 | H>R | No |
ClinGen ESP gnomAD |
|
|
CA7898263 rs374823602 |
281 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7898262 rs772361491 |
281 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7898264 rs374823602 |
281 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772361491 CA394718145 |
281 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1267041911 CA394718140 |
282 | M>L | No |
ClinGen TOPMed |
|
|
CA7898261 rs746031988 |
283 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1286617989 CA394718101 |
284 | K>R | No |
ClinGen gnomAD |
|
|
rs1225583094 CA394718079 |
285 | I>T | No |
ClinGen gnomAD |
|
|
rs1385565704 CA394718064 |
286 | D>G | No |
ClinGen gnomAD |
|
|
CA7898259 rs35557541 |
286 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA277641912 rs71389065 |
286 | D>H | No |
ClinGen Ensembl |
|
|
CA394718053 rs1269485661 |
287 | G>S | No |
ClinGen TOPMed |
|
|
rs778299095 CA7898257 |
288 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778299095 CA394718030 |
288 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200658000 CA7898217 |
289 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200658000 CA394717537 |
289 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569999590 CA7898215 |
291 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7898214 rs778623057 |
292 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394717517 rs778623057 |
292 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756774313 CA7898213 |
293 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 294 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394717502 rs1283502254 |
295 | W>R | No |
ClinGen gnomAD |
|
|
rs1356081626 CA394717498 |
295 | W>S | No |
ClinGen gnomAD |
|
|
CA7898210 rs777725841 |
296 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA277636293 rs867596588 |
296 | A>V | No |
ClinGen Ensembl |
|
|
rs182610437 CA7898209 |
297 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7898207 rs767242991 |
298 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM3957101 rs1596415156 CA394717474 |
299 | S>G | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA277636276 rs1046920429 |
299 | S>N | No |
ClinGen TOPMed |
|
|
rs763166393 CA394717462 |
300 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA277636265 rs986006041 |
301 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1291611967 CA394717452 |
302 | N>D | No |
ClinGen TOPMed |
|
|
CA7898204 rs765488113 |
302 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs761850647 CA7898203 |
303 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160125887 CA394717440 |
304 | K>Q | No |
ClinGen gnomAD |
|
|
rs372618647 CA7898202 |
304 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775998494 CA7898199 |
305 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947689592 COSM1518217 CA277636235 |
307 | Q>E | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1458583507 CA394717418 |
307 | Q>P | No |
ClinGen TOPMed |
|
|
CA394717409 rs1482074220 |
308 | N>S | No |
ClinGen gnomAD |
|
|
CA7898197 rs150053960 |
310 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7898194 rs770585435 |
310 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898195 rs150053960 |
310 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1451582410 CA394717392 |
311 | A>P | No |
ClinGen gnomAD |
|
|
rs1332197137 CA394717386 |
312 | N>H | No |
ClinGen TOPMed |
|
|
CA394717383 rs1299102383 |
312 | N>S | No |
ClinGen gnomAD |
|
|
rs139418007 CA7898193 |
313 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7898192 rs144366286 |
314 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394717371 rs1287248213 |
314 | I>T | No |
ClinGen gnomAD |
|
|
rs541300736 CA7898191 |
315 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394717365 rs2719710 |
315 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394717366 rs2719710 |
315 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_053725 CA7898190 rs2719710 |
315 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs754791961 CA7898187 |
317 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781104228 CA7898188 |
317 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs78451460 CA394717322 |
320 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78451460 CA7898185 |
320 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 321 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477255299 CA394717306 |
321 | E>D | No |
ClinGen gnomAD |
|
|
CA277636187 rs368333569 |
323 | L>V | No |
ClinGen ESP TOPMed |
|
|
rs1200188614 CA394717270 |
324 | F>S | No |
ClinGen gnomAD |
|
|
rs1477754214 CA394717258 |
325 | E>Q | No |
ClinGen gnomAD |
|
|
rs1023255999 CA277636169 |
326 | T>I | No |
ClinGen TOPMed |
|
|
CA7898181 rs764199033 |
328 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394717210 rs1447935826 |
329 | D>H | No |
ClinGen gnomAD |
|
|
CA394717212 rs1447935826 |
329 | D>N | No |
ClinGen gnomAD |
|
|
rs760828518 CA7898180 |
331 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402611933 CA394717182 |
331 | M>L | No |
ClinGen TOPMed |
|
|
rs776197133 CA7898179 |
332 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1325294822 CA394717155 |
332 | W>C | No |
ClinGen gnomAD |
|
|
rs768114757 CA7898178 |
334 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA394717092 rs1218076076 |
336 | T>I | No |
ClinGen gnomAD |
|
|
rs1271788739 CA394717083 |
337 | D>G | No |
ClinGen gnomAD |
|
|
rs1029782878 CA277636123 |
337 | D>H | No |
ClinGen TOPMed |
|
|
rs1431472013 CA394717065 |
338 | T>I | No |
ClinGen gnomAD |
|
|
CA394717061 rs1263453660 |
339 | N>D | No |
ClinGen gnomAD |
|
|
rs759857828 CA7898177 |
339 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 341 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7898176 rs200353042 |
341 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470853508 CA394717011 |
343 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs770513615 CA394717009 |
343 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs770513615 CA7898175 |
343 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA7898172 rs555937241 |
344 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772713538 CA7898173 |
344 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898171 rs555937241 |
344 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374585206 CA7898170 COSM3718501 |
345 | R>C | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7898169 rs754915834 |
345 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
TCGA novel CA394716999 rs754915834 |
345 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA ExAC TOPMed gnomAD |
|
rs746813780 CA7898168 |
346 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1187021668 CA394716987 |
347 | S>C | No |
ClinGen gnomAD |
|
|
rs1221185849 CA394716984 |
348 | E>* | No |
ClinGen TOPMed |
|
|
rs1262990814 CA394716980 |
348 | E>D | No |
ClinGen TOPMed |
|
|
rs376244509 CA7898167 |
350 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1309927027 CA394716963 |
351 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394716965 rs1208993056 |
351 | D>Y | No |
ClinGen gnomAD |
|
|
CA7898165 rs576873067 |
352 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394716944 rs1426090834 |
354 | N>H | No |
ClinGen TOPMed |
|
|
rs1215064132 CA394716942 |
354 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756311623 CA7898163 |
356 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs752793307 CA7898162 |
357 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs752793307 CA394716923 |
357 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs767939919 CA7898161 |
358 | T>M | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767939919 CA277636047 |
358 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs373265266 CA277636040 |
359 | Q>* | No |
ClinGen ESP gnomAD |
|
|
CA394716909 rs151243776 CA394716910 |
359 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 360 | L>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1466545018 CA394716907 |
360 | L>V | No |
ClinGen TOPMed |
|
|
rs150931807 CA7898157 |
361 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371174115 CA7898156 |
361 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs941903235 CA277636012 |
362 | K>R | No |
ClinGen gnomAD |
|
|
rs1412832193 CA394718497 |
363 | T>A | No |
ClinGen TOPMed |
|
|
CA7898132 rs142647849 COSM241868 |
363 | T>M | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA394718490 rs994908727 |
364 | L>V | No |
ClinGen TOPMed |
|
|
CA7898129 rs745688962 |
366 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1476847574 CA394718455 |
367 | I>N | No |
ClinGen gnomAD |
|
|
CA7898128 rs778799437 |
369 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA394718427 rs1286579011 |
370 | A>T | No |
ClinGen gnomAD |
|
|
CA7898125 rs140448268 |
371 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs943623930 CA277648400 |
371 | E>A | No |
ClinGen TOPMed |
|
|
CA394718416 rs140448268 |
371 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7898126 rs140448268 |
371 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs943623930 CA394718412 |
371 | E>V | No |
ClinGen TOPMed |
|
|
CA7898124 rs755143675 |
372 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA7898123 rs751569872 |
372 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 373 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA277648385 rs555283683 |
373 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7898122 rs780654330 |
373 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs570200631 CA277648379 |
374 | I>M | No |
ClinGen 1000Genomes gnomAD |
|
|
rs758867143 CA7898121 |
374 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7898120 rs113800455 |
375 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765516318 CA7898119 |
375 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA394718347 rs1194741698 |
378 | E>G | No |
ClinGen TOPMed |
|
|
CA7898117 rs753580507 |
378 | E>K | No |
ClinGen ExAC |
|
|
CA7898115 rs760271920 |
381 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA394718298 rs1209566175 |
382 | M>T | No |
ClinGen gnomAD |
|
|
rs774822261 CA7898114 |
382 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394718253 rs1286717566 |
386 | G>S | No |
ClinGen gnomAD |
|
|
rs759487224 CA7898111 COSM180684 |
387 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759487224 CA394718236 |
387 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898107 rs768733071 |
391 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394718202 rs1321692693 |
391 | A>T | No |
ClinGen gnomAD |
|
|
CA7898106 rs768733071 |
391 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394718176 rs1385927608 |
393 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779950743 CA7898104 |
394 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs746437369 CA7898102 |
396 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394718134 rs779376823 |
397 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA277648309 rs926488585 |
397 | C>Y | No |
ClinGen Ensembl |
|
|
rs757663837 CA394718130 |
398 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754117595 CA7898099 |
398 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898100 rs757663837 |
398 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143414845 CA7898097 COSM180683 |
400 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7898098 rs763838685 |
400 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752263208 CA7898096 |
401 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7898095 COSM180682 rs549750185 |
401 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs141126686 CA7898092 |
403 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394718082 rs1217781848 |
403 | N>S | No |
ClinGen TOPMed |
|
|
CA394718069 rs1198361446 |
404 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA277648239 rs1024840419 |
404 | M>L | No |
ClinGen gnomAD |
|
|
rs1024840419 CA394718076 |
404 | M>V | No |
ClinGen gnomAD |
|
|
rs982680284 CA277648234 |
405 | E>K | No |
ClinGen TOPMed |
|
|
rs376579780 CA277648218 |
408 | R>G | No |
ClinGen ESP TOPMed |
|
|
CA7898089 rs772846624 |
409 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs201346320 CA7898087 |
411 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201346320 CA394718003 |
411 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7898085 rs772195112 |
412 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA277648193 rs899227169 |
413 | L>F | No |
ClinGen TOPMed |
|
|
CA7898053 rs779655301 |
414 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898083 rs779433274 |
414 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs144718699 CA7898052 |
415 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394717967 rs1287208982 |
415 | L>V | No |
ClinGen gnomAD |
|
|
CA394717963 rs1367316580 |
416 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7898050 rs765195831 |
418 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7898049 rs761551790 |
419 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA394717930 rs1161663250 |
421 | T>P | No |
ClinGen gnomAD |
|
|
rs934960131 CA277643301 |
422 | I>V | No |
ClinGen TOPMed |
|
|
CA7898047 rs767747868 |
423 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7898045 rs774419031 |
424 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770983351 CA7898044 |
425 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs763076287 CA7898043 |
425 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7898042 rs773641728 |
426 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA7898040 rs748555840 |
427 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7898041 rs770305606 |
427 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA394717882 rs1225983033 |
429 | L>F | No |
ClinGen gnomAD |
|
|
CA394717879 rs1261218880 |
429 | L>R | No |
ClinGen Ensembl |
|
|
rs781651513 CA7898039 |
432 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1457525334 CA394717864 |
432 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7898036 rs779755995 |
434 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538868306 CA7898037 |
434 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs149799724 CA7898033 |
435 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749913557 CA7898034 |
435 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA277643243 rs566789133 |
437 | Q>E | No |
ClinGen 1000Genomes TOPMed |
|
|
rs201232806 CA277643241 |
438 | D>A | No |
ClinGen Ensembl |
|
|
rs139672134 CA7898032 |
439 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760457652 CA277643234 |
440 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766602215 CA7898028 |
441 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs766602215 CA7898027 |
441 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA394717810 rs1465645222 |
442 | L>Q | No |
ClinGen gnomAD |
|
|
rs773305329 CA7898025 |
443 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA394717800 rs1596397279 |
444 | V>G | No |
ClinGen Ensembl |
|
|
rs780956752 CA277643219 |
444 | V>I | No |
ClinGen gnomAD |
|
|
CA277643217 rs780956752 |
444 | V>L | No |
ClinGen gnomAD |
|
|
rs1342732516 CA394717796 |
445 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1342732516 CA394717795 |
445 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs762355714 CA7898022 |
445 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 447 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7898018 rs747368284 |
448 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777142578 CA7898020 |
448 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7898017 rs61731534 |
449 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7898016 rs771711650 |
450 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA277643208 rs771711650 |
450 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778426963 CA7898014 |
451 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394717759 CA7898013 rs757189555 |
451 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201956574 CA7898011 COSM228188 |
453 | E>K | Variant assessed as Somatic; 0.0 impact. skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201956574 CA7898010 |
453 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7898009 rs752506226 |
454 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs758598614 CA394717738 |
455 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7898007 rs758598614 |
455 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs899814022 CA277643167 |
455 | A>V | No |
ClinGen Ensembl |
|
|
CA7898004 rs761983888 |
456 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs905067017 CA394717721 |
457 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394717719 rs1216336685 |
458 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7898002 rs145280952 |
459 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1295181811 CA394717711 |
459 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA394717712 rs1295181811 |
459 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1229854058 CA394717704 |
460 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7898000 rs775872778 |
462 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA394717692 rs1254656054 |
462 | C>S | No |
ClinGen TOPMed |
|
|
rs147505505 CA7897998 |
463 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774458718 CA394717683 |
463 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA394717688 rs147505505 |
463 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7897995 rs748773550 |
464 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7897996 rs770486261 |
464 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs188259437 CA277643104 |
464 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs188259437 COSM966922 CA7897997 |
464 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA394717682 rs188259437 |
464 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7897994 rs777729606 |
465 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs756006503 CA7897993 |
466 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394717658 rs1284303058 |
467 | K>N | No |
ClinGen gnomAD |
|
|
rs747920869 CA7897992 |
469 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA394717648 rs1180929542 |
469 | M>V | No |
ClinGen gnomAD |
|
|
CA394717636 rs1253417906 |
470 | G>A | No |
ClinGen gnomAD |
|
|
rs1253417906 CA394717637 |
470 | G>D | No |
ClinGen gnomAD |
|
|
rs1303125463 CA394717631 |
471 | M>K | No |
ClinGen TOPMed |
|
|
CA7897990 rs200170612 |
472 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7897991 rs200170612 |
472 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7897988 rs200414450 |
472 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200414450 CA7897989 |
472 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA277643063 rs769961400 |
473 | K>* | No |
ClinGen gnomAD |
|
|
rs143171228 CA7897987 |
474 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394717616 rs1596397191 |
474 | T>P | No |
ClinGen Ensembl |
|
|
rs143171228 CA7897986 |
474 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394717606 rs1234407221 |
475 | F>L | No |
ClinGen TOPMed |
|
|
rs761203199 CA7897984 |
476 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1353621717 CA394717593 |
477 | C>* | No |
ClinGen gnomAD |
|
|
rs1228024732 CA394717596 |
477 | C>Y | No |
ClinGen gnomAD |
|
|
CA7897983 rs767990475 |
478 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7897981 rs759806333 |
478 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7897982 rs767990475 |
478 | T>P | No |
ClinGen ExAC gnomAD |
|
| rs1422956059 | 479 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM72944 rs201676909 CA7897977 |
479 | P>L | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7897978 rs201676909 |
479 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394717586 rs1296966871 |
479 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7897975 rs199622761 |
480 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA394717582 rs1459589182 |
480 | R>H | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs367721878 CA7897973 |
481 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7897972 rs746762476 |
483 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA7897971 rs779305993 |
484 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA394717562 rs1388741152 |
484 | H>Y | No |
ClinGen TOPMed |
|
|
rs1488679894 CA394717553 |
485 | T>S | No |
ClinGen gnomAD |
|
|
CA717917948 rs1292355717 |
486 | T>S | No |
ClinGen TOPMed |
No associated diseases with Q96M29
No regional properties for Q96M29
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96M29 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| sperm flagellum | A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| cilium movement involved in cell motility | Movement of cilia mediated by motor proteins that contributes to the movement of a cell. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEFLGTTQTA | SYCGPKKCCG | LTSLPAVQAP | VIQECYQPYY | LPGYRYLNSW | RPSLFYKIAN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VQTCPDESTS | TLRPPTILPT | LRSALFSRYS | PHDWDQSNQL | QVRGAEASRL | WASRLTDDSM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RLLQDKDQLT | HQMQEGTCRN | LGQRLSDIGF | WKSELSYELD | RLLTENQNLE | TVKRRLECAA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NEVNCPLQVA | LECLYHREKR | IGIDLVHDNV | EKNLIREVDL | LKCCQEQMRK | LAQRIDIQMR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DNRDAQHVLE | RDLEDKSSAQ | CIDEKCFNLR | NTSDCISFFH | GMEKIDGTIS | VPETWAKFSN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DNIKHSQNMR | ANSIQLREEA | EHLFETLSDQ | MWRQFTDTNL | AFNARISEVT | DVKNKLQTQL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AKTLQEIFQA | ENTIMLLERS | IMAKEGPLKV | AQTRLECRTR | RPNMELCRDI | PQLKLVNEVF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TIDDTLQTLK | LRLRETQDTL | QLLVMTKCRL | EHELAIKANT | LCIDKEKCMG | MRKTFPCTPR |
| LVGHT |