O75310
PR
Gene name |
UGT2B11 |
Protein name |
UDP-glucuronosyltransferase 2B11 |
Names |
UDPGT 2B11 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10720 |
EC number |
2.4.1.17: Hexosyltransferases |
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 O75310
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O75310-F1 | Predicted | AlphaFoldDB |
694 variants for O75310
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2945589 rs766019848 |
2 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766019848 CA2945590 |
2 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772574972 CA2945587 |
5 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772574972 CA357110185 |
5 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572252994 CA2945588 |
5 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1273299542 CA357110180 |
6 | T>A | No |
ClinGen TOPMed |
|
|
CA2945586 rs771652626 |
6 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs761261972 CA2945585 |
7 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749663754 CA2945582 |
8 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357110168 rs749663754 |
8 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369485659 CA2945583 |
8 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs903398465 CA98849572 |
10 | L>V | No |
ClinGen TOPMed |
|
|
CA357110139 rs1322948017 |
13 | H>Q | No |
ClinGen gnomAD |
|
|
rs769884784 CA2945580 |
14 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 14 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746138310 CA2945579 |
15 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357110126 rs1164400827 |
15 | S>R | No |
ClinGen gnomAD |
|
|
rs377363597 CA98849563 |
16 | C>F | No |
ClinGen ESP TOPMed |
|
|
CA98849567 rs377363597 |
16 | C>Y | No |
ClinGen ESP TOPMed |
|
|
rs757310603 CA2945575 |
21 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357110089 rs1448449207 |
21 | G>R | No |
ClinGen gnomAD |
|
|
CA2945574 COSM1328438 rs751649625 |
22 | S>C | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA357110083 rs751649625 |
22 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357110081 rs1156888633 |
22 | S>T | No |
ClinGen TOPMed |
|
|
CA357110073 rs1195017073 |
23 | C>S | No |
ClinGen gnomAD |
|
|
rs778758879 CA2945573 |
24 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1002015999 CA98849533 |
26 | V>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 26 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 28 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2945571 rs372787822 |
28 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA98849525 rs372787822 |
28 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1272521042 CA357110027 |
29 | W>S | No |
ClinGen gnomAD |
|
|
rs766214426 CA2945569 |
30 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766214426 CA98849503 |
30 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA98849497 rs1038277413 |
31 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2945567 rs750052553 |
31 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357109991 rs1280107389 |
32 | E>V | No |
ClinGen TOPMed |
|
|
rs1369271083 CA357109963 |
34 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA357109966 rs1369271083 |
34 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA357109951 rs1428585623 |
35 | H>R | No |
ClinGen gnomAD |
|
|
CA98849469 rs910883289 |
36 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761330688 CA2945565 |
37 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs774070058 CA2945564 |
38 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA98849459 rs148025519 |
38 | N>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs148025519 CA357109908 |
38 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2945563 rs769271079 |
39 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481348330 CA357109893 |
39 | M>T | No |
ClinGen gnomAD |
|
|
CA357109899 rs769271079 |
39 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556013852 CA2945561 |
40 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143557269 CA2945562 |
40 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs536264814 CA357109868 |
41 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2945559 rs536264814 |
41 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2945560 rs536264814 |
41 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2945557 rs771065550 |
42 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2945558 rs148891516 |
42 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357109848 rs1275764775 |
44 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 45 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2945555 rs777891729 |
46 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2945554 rs567506006 |
47 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357109807 rs567506006 |
47 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369463242 CA98849400 |
49 | R>G | No |
ClinGen ESP |
|
|
CA2945552 rs779887404 |
49 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs750200241 CA2945550 |
50 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534028325 CA2945549 |
50 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751092683 CA2945547 |
53 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374800460 CA2945545 |
54 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA98849368 rs957650508 |
55 | V>I | No |
ClinGen TOPMed |
|
|
CA2945542 rs371609283 |
56 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776088215 CA2945543 |
56 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357109694 rs1388241132 |
57 | A>T | No |
ClinGen gnomAD |
|
|
CA357109688 rs1162422056 |
57 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA357109665 rs1168144101 |
59 | S>L | No |
ClinGen Ensembl |
|
|
CA2945541 rs759875437 |
60 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2945540 rs571847976 |
61 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 61 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA98849324 rs267600222 |
61 | S>F | No |
ClinGen Ensembl |
|
|
rs571847976 CA357109652 |
61 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747284901 CA2945538 |
62 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs144609604 CA2945539 |
62 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201055366 CA2945536 |
63 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201055366 CA2945537 |
63 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779986620 CA2945535 |
64 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA2945532 rs142365277 |
64 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2945534 rs779986620 |
64 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA357109600 rs1176543916 |
66 | P>L | No |
ClinGen TOPMed |
|
|
rs780896887 CA2945530 |
67 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA357109531 rs756939149 |
69 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM286282 CA2945529 rs756939149 |
69 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA357109523 rs1386097293 |
69 | A>V | No |
ClinGen gnomAD |
|
|
CA2945525 rs188477794 |
70 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs188477794 CA2945524 |
70 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs7697482 CA2945526 |
70 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2945527 rs7697482 |
70 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2945522 rs777035076 |
72 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760021665 CA2945523 |
72 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA357109437 rs111323162 |
73 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs111323162 CA98849222 |
73 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA357109427 rs1185587672 |
74 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2945521 rs766697698 |
75 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2945520 rs761060218 |
76 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1319226227 CA357109372 |
77 | Y>D | No |
ClinGen gnomAD |
|
|
rs773374868 CA2945519 |
78 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357109321 rs1226105815 |
79 | T>A | No |
ClinGen gnomAD |
|
|
rs941256074 CA357109309 |
79 | T>I | No |
ClinGen TOPMed |
|
|
rs941256074 CA98849207 |
79 | T>K | No |
ClinGen TOPMed |
|
|
CA357109318 rs1226105815 |
79 | T>S | No |
ClinGen gnomAD |
|
|
CA2945517 rs377208727 |
80 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357109285 rs372895592 |
80 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2945516 rs372895592 |
80 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357109277 rs1362617351 |
81 | L>* | No |
ClinGen gnomAD |
|
|
CA2945515 rs769747292 |
83 | K>R | No |
ClinGen ExAC |
|
|
CA98849181 rs775531785 |
84 | T>A | No |
ClinGen Ensembl |
|
|
rs745833073 CA2945514 |
85 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745833073 CA357109206 |
85 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945512 rs145422436 |
88 | N>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368275880 CA2945511 |
89 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2945510 rs529717524 |
90 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758187780 CA2945508 |
90 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1449498875 CA357109095 |
90 | I>N | No |
ClinGen gnomAD |
|
|
CA2945509 rs529717524 |
90 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778338411 CA2945506 CA357109067 |
91 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487088909 CA357109075 |
91 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2945507 rs560719787 |
91 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766895398 CA2945505 |
92 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs766895398 CA2945504 |
92 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs766895398 CA2945503 |
92 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1291810264 CA357109017 |
93 | Q>R | No |
ClinGen gnomAD |
|
|
rs541161999 CA2945501 |
95 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357108931 rs1339603512 |
96 | R>K | No |
ClinGen gnomAD |
|
|
CA2945499 rs761989436 |
97 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774456457 CA2945498 |
98 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1435622268 CA357108847 |
99 | D>E | No |
ClinGen gnomAD |
|
|
CA98849045 rs922321210 |
99 | D>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 99 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768577720 CA2945497 |
100 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs768577720 CA357108834 |
100 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2945496 COSM277998 rs776369680 |
101 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA357108811 rs7688262 |
101 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs7688262 CA2945494 |
101 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357108801 rs1370172024 |
102 | K>E | No |
ClinGen gnomAD |
|
|
rs1359385668 CA357108753 |
103 | D>E | No |
ClinGen TOPMed |
|
|
rs746793887 CA2945493 |
103 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1169400462 CA357108786 |
103 | D>H | No |
ClinGen gnomAD |
|
|
rs1169400462 CA357108780 |
103 | D>Y | No |
ClinGen gnomAD |
|
|
CA2945492 CA357108715 rs777772060 |
104 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA357108730 rs1423455309 |
104 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 105 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs151289575 CA2945490 |
106 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2945491 rs565118609 |
106 | W>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1224069943 CA357108640 |
108 | Y>C | No |
ClinGen gnomAD |
|
|
CA2945489 rs778663703 |
109 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 109 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753403511 CA2945487 |
111 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA357108547 rs1298855127 |
112 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 112 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357108478 rs1260404136 |
114 | E>G | No |
ClinGen TOPMed |
|
|
CA2945485 rs375171668 |
114 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750761889 CA2945484 |
115 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA357108413 rs1407936311 |
117 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2945481 rs148795640 |
117 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1407936311 CA357108405 |
117 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1298853446 CA357108335 |
118 | E>D | No |
ClinGen gnomAD |
|
|
CA2945480 rs764385782 |
119 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945478 rs775775841 |
120 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs762870569 CA2945479 |
120 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773113447 CA2945476 |
121 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770976407 CA2945477 |
121 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2945475 rs773113447 |
121 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343134311 CA357108240 |
122 | I>V | No |
ClinGen TOPMed |
|
|
CA357108214 rs748002147 |
123 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748002147 CA2945474 |
123 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144410864 CA2945472 |
123 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748002147 CA2945473 |
123 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357108146 rs1560541622 |
125 | N>K | No |
ClinGen Ensembl |
|
|
CA2945471 rs768360496 |
126 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748745241 CA2945470 |
127 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357108102 rs1253921847 |
127 | C>Y | No |
ClinGen gnomAD |
|
|
CA2945468 rs756580916 |
129 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945469 rs536093538 |
129 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA2945466 rs781679030 |
130 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs746332884 CA357108011 |
130 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746332884 CA2945467 |
130 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393257201 CA357107958 |
131 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs574023758 CA357107965 |
131 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574023758 CA2945464 |
131 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1286498785 CA357107880 |
133 | N>Y | No |
ClinGen TOPMed |
|
|
CA2945463 rs371579567 |
134 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2945462 rs371579567 |
134 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2945461 rs754069154 COSM1269715 |
136 | V>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1157439248 CA357107809 |
137 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1408668006 CA357107820 |
137 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1457128729 COSM1056938 CA357107783 |
138 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA357107751 rs1159153626 |
140 | L>V | No |
ClinGen gnomAD |
|
|
rs933924879 CA98848847 |
141 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs139826685 CA98848832 |
141 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2945458 rs139826685 |
141 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1180853917 CA357107721 |
142 | E>* | No |
ClinGen gnomAD |
|
|
rs534334234 CA2945457 |
143 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1361417805 CA357107648 |
145 | F>S | No |
ClinGen TOPMed |
|
|
rs1461515634 CA357107618 |
146 | D>V | No |
ClinGen gnomAD |
|
|
rs571627693 CA2945456 |
147 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs571627693 CA357107611 |
147 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2945454 rs367971286 |
148 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367971286 COSM1430684 CA2945453 |
148 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1241264013 CA357107562 |
149 | F>S | No |
ClinGen gnomAD |
|
|
rs745395698 CA2945450 |
150 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357107528 rs1310312398 |
151 | D>H | No |
ClinGen TOPMed |
|
|
CA357107492 rs1560541483 |
153 | V>A | No |
ClinGen Ensembl |
|
|
rs139371276 CA2945449 |
153 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139371276 CA2945448 |
153 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747318652 CA2945447 |
154 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA357107480 rs778246996 |
155 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2945446 rs778246996 |
155 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs7697037 CA2945445 |
156 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2945444 rs7697037 |
156 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2945443 rs765583160 |
156 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945442 rs755055210 |
157 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945440 rs374126101 |
159 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357107399 rs1186444414 |
161 | A>P | No |
ClinGen gnomAD |
|
|
CA2945437 rs762758397 |
162 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762758397 CA2945436 |
162 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945435 rs775064565 COSM248197 |
162 | A>V | Variant assessed as Somatic; 0.0 impact. central_nervous_system prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs114705696 CA357107342 |
164 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357107334 rs1264887298 |
164 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1264887298 CA357107332 |
164 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2945432 rs114705696 |
164 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 166 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1438901479 CA357107309 |
166 | I>V | No |
ClinGen TOPMed |
|
|
rs778177055 CA2945428 |
167 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778177055 COSM587892 CA2945429 |
167 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs148268917 CA2945430 |
167 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA357107267 rs1295759224 |
169 | V>L | No |
ClinGen gnomAD |
|
|
rs755318929 CA2945424 |
170 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753955831 CA2945423 |
172 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs146219254 CA2945420 |
173 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763950371 CA2945419 |
173 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945421 rs146219254 |
173 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142298755 CA2945417 |
175 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142298755 CA357107160 |
175 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759232975 CA2945416 |
176 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759232975 CA2945415 |
176 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945414 rs775969640 |
177 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773714066 CA2945411 |
179 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs760128060 CA2945413 |
179 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945412 rs760128060 |
179 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147658117 CA98848512 |
180 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2945410 rs772714481 |
181 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs748519040 CA2945409 |
183 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945408 rs779478944 |
184 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779478944 CA357107013 |
184 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945407 rs375778077 |
184 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147038159 CA2945406 |
184 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2945405 rs200374868 |
186 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1041996132 CA98848440 |
187 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs756157125 CA2945404 |
188 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357106928 rs1407316390 |
190 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA357106935 rs1211075844 |
190 | P>T | No |
ClinGen TOPMed |
|
|
CA2945403 rs547057442 |
191 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376640342 CA2945402 |
192 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1540454 CA2945400 rs145784351 |
193 | Y>* | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 193 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA98848394 rs759355725 |
194 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357106856 rs1169396918 |
194 | I>T | No |
ClinGen gnomAD |
|
|
CA98848399 rs937791653 |
194 | I>V | No |
ClinGen TOPMed |
|
|
rs753483230 CA2945397 |
195 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753483230 CA98848384 |
195 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202097467 CA357106836 |
196 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202097467 CA2945396 |
196 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481379480 CA357106831 |
196 | I>T | No |
ClinGen gnomAD |
|
|
rs202097467 CA2945395 |
196 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577967128 CA357106822 |
197 | V>A | No |
ClinGen Ensembl |
|
|
CA2945392 rs768129033 |
202 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945391 rs575833480 |
203 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2945390 rs373661961 COSM363979 |
204 | Q>E | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs373661961 CA98848321 |
204 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1353477505 CA357106696 |
204 | Q>P | No |
ClinGen TOPMed |
|
|
rs1445214550 CA357106652 |
205 | M>I | No |
ClinGen gnomAD |
|
|
rs769091237 CA2945389 |
205 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1323206705 CA357106623 |
206 | T>I | No |
ClinGen gnomAD |
|
|
rs139916286 CA2945388 |
207 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139916286 CA357106615 |
207 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357106588 rs1334220353 |
208 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2945387 rs775711335 |
209 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1221679606 CA357106526 |
211 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2945386 rs769973233 |
212 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs781297894 CA2945384 |
214 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 214 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758299517 CA2945383 |
215 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748035775 CA2945382 |
215 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs748035775 CA357106430 |
215 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs754745945 CA2945380 |
216 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA98848255 rs753581246 COSM734902 CA2945379 |
217 | V>L | lung Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA |
|
rs753581246 CA357106386 |
217 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755784332 CA2945378 |
218 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755784332 CA2945377 |
218 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1185611294 CA357106295 |
221 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1185611294 CA357106292 |
221 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs767178384 CA2945375 |
222 | F>S | No |
ClinGen ExAC |
|
|
CA98848211 rs998429143 |
223 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2945373 rs774939033 |
223 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs562338893 CA2945374 |
223 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1577967041 CA357106248 |
224 | F>I | No |
ClinGen Ensembl |
|
|
CA2945371 rs763367755 |
225 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA2945370 rs542551072 |
226 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2945368 rs143912578 |
227 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357106176 rs1350691340 |
227 | S>P | No |
ClinGen gnomAD |
|
|
rs143912578 CA2945369 |
227 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747107087 CA2945365 |
228 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2945367 rs776867903 |
228 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776867903 CA98848174 |
228 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778756813 CA2945364 |
230 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1337113497 CA357106063 |
230 | K>R | No |
ClinGen gnomAD |
|
|
rs754938080 CA2945363 |
231 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401225290 CA357105959 |
233 | D>G | No |
ClinGen gnomAD |
|
|
CA2945361 rs140000959 |
233 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2945362 rs140000959 |
233 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2945360 rs577934148 |
234 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357105870 rs1161562528 |
236 | Y>H | No |
ClinGen gnomAD |
|
|
rs780651585 CA357105822 |
237 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1343500615 CA357105815 |
238 | E>Q | No |
ClinGen TOPMed |
|
|
CA357104570 rs1171557299 |
241 | G>A | No |
ClinGen gnomAD |
|
|
rs1185802266 CA357105732 |
241 | G>R | No |
ClinGen gnomAD |
|
|
rs745641829 CA2945321 |
243 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1199238784 CA357104504 |
244 | T>N | No |
ClinGen gnomAD |
|
|
rs1030918590 CA98847138 |
245 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs200383787 CA98847128 |
247 | F>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA2945318 rs746619879 |
247 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945317 rs376626494 |
249 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA357104402 rs1204944974 |
249 | T>I | No |
ClinGen gnomAD |
|
|
rs1308980562 CA357104375 |
251 | G>* | No |
ClinGen gnomAD |
|
|
rs372565688 CA2945314 |
252 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs752853799 | 253 | A>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2945312 rs1553919948 |
253 | A>T | No |
ClinGen Ensembl |
|
|
rs1324216474 CA357104323 |
253 | A>V | No |
ClinGen gnomAD |
|
|
CA2945308 rs756505481 |
255 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945309 rs200881199 |
255 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2945306 rs138593124 |
256 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2945307 rs564388313 |
256 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2945305 rs370111363 |
257 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1432128952 CA357104234 |
258 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA357104240 rs1165178526 |
258 | M>T | No |
ClinGen TOPMed |
|
|
CA98847071 rs1056351541 |
258 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1056936 CA357104223 rs1177967964 |
259 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs72551398 CA2945304 |
259 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765239547 CA2945303 |
260 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA357104201 rs759583128 |
260 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357104186 rs776739581 |
261 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2945301 rs776739581 |
261 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2945300 rs770800560 |
262 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs886364342 CA98847024 |
263 | S>G | No |
ClinGen TOPMed |
|
|
rs746812116 CA357104155 |
263 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA2945299 rs746812116 |
263 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA357104138 rs1348040905 |
264 | F>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 265 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771826041 CA357104109 |
265 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357104117 rs1577966073 |
265 | Q>R | No |
ClinGen Ensembl |
|
|
CA357104085 rs1236807554 |
267 | P>H | No |
ClinGen gnomAD |
|
|
CA2945296 rs542001660 |
268 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778534981 CA2945295 |
269 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs930346283 CA98846988 |
270 | F>L | No |
ClinGen TOPMed |
|
|
rs1360818915 CA357104059 |
271 | L>F | No |
ClinGen TOPMed |
|
|
rs1216583079 CA357104052 |
272 | P>R | No |
ClinGen TOPMed |
|
|
rs375976357 CA357104045 |
273 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA98846974 rs868738904 |
274 | V>A | No |
ClinGen Ensembl |
|
|
CA2945293 rs573268993 |
274 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1336444587 CA357104024 |
276 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2945292 rs780564592 |
277 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1287576468 CA357104014 |
278 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1408928144 CA357104018 |
278 | G>R | No |
ClinGen gnomAD |
|
|
CA357104011 rs1453683522 |
279 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs559723710 CA2945290 COSM1294154 |
280 | F>L | cervix [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs559723710 CA2945291 |
280 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2945288 rs757544761 |
282 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA357103991 rs767618584 |
282 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA2945289 rs767618584 |
282 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs751558415 CA2945286 |
283 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1444953112 CA357103983 |
283 | K>T | No |
ClinGen gnomAD |
|
|
rs1203267625 CA357103974 |
284 | P>L | No |
ClinGen gnomAD |
|
|
CA357103977 rs1438831398 |
284 | P>S | No |
ClinGen TOPMed |
|
|
rs1438831398 CA357103979 |
284 | P>T | No |
ClinGen TOPMed |
|
|
CA2945283 rs763148190 |
285 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2945282 rs776650220 |
286 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA2945280 rs766422097 |
287 | P>H | No |
ClinGen ExAC TOPMed |
|
|
CA357103958 rs1387025543 |
287 | P>S | No |
ClinGen TOPMed |
|
|
CA357103960 rs1387025543 |
287 | P>T | No |
ClinGen TOPMed |
|
|
rs3890590 CA2945278 |
289 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 289 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746342537 CA357102621 |
291 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746342537 CA2945247 |
291 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357102622 rs746342537 |
291 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288545317 CA357102605 |
293 | E>* | No |
ClinGen TOPMed |
|
|
rs143688180 CA2945245 |
295 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769830207 CA98843654 |
295 | F>V | No |
ClinGen Ensembl |
|
|
CA2945243 rs758753165 |
296 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758753165 CA2945242 |
296 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747337086 CA357102584 |
296 | V>I | No |
ClinGen ExAC |
|
|
rs747337086 CA2945244 |
296 | V>L | No |
ClinGen ExAC |
|
|
rs779173594 CA2945240 |
297 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1328316186 CA357102569 |
297 | Q>R | No |
ClinGen gnomAD |
|
|
rs755044547 CA2945239 |
298 | S>G | No |
ClinGen ExAC gnomAD |
|
|
COSM3674212 rs1291874340 CA357102491 |
302 | N>Y | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs767373393 CA357102466 |
303 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1405094128 CA357102472 |
303 | G>C | No |
ClinGen gnomAD |
|
|
rs767373393 CA2945237 |
303 | G>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1288816 CA357102454 rs1577963224 |
304 | V>A | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1560538687 CA357102435 |
306 | V>L | No |
ClinGen Ensembl |
|
|
CA357102386 rs1321827821 |
309 | L>P | No |
ClinGen TOPMed |
|
|
rs763711444 CA357102390 |
309 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 310 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357102345 CA357102347 rs1479081901 |
312 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1479081901 CA357102348 |
312 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA98843555 rs779305467 |
313 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775150425 CA2945231 |
314 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1240388353 CA357102290 |
315 | N>I | No |
ClinGen gnomAD |
|
|
CA357102272 rs1416541550 |
316 | M>I | No |
ClinGen TOPMed |
|
|
rs758980823 CA2945230 |
316 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758980823 CA2945229 |
316 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357102255 rs1461258293 |
317 | T>I | No |
ClinGen gnomAD |
|
|
CA2945228 rs777128941 |
318 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1221444850 CA357102224 |
319 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2945227 rs771406631 |
320 | R>K | No |
ClinGen ExAC |
|
|
rs747364029 CA2945226 |
320 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA2945225 rs778333147 |
321 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2945224 rs772394059 |
322 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs748341197 CA2945223 |
322 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755031225 CA2945221 |
324 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755449934 CA2945220 |
325 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1577963148 CA357102149 |
325 | A>S | No |
ClinGen Ensembl |
|
|
rs755449934 CA357102144 |
325 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1416133368 CA357102139 |
326 | T>A | No |
ClinGen gnomAD |
|
|
CA357102124 rs1382816663 |
327 | A>S | No |
ClinGen gnomAD |
|
|
CA2945219 rs781188180 |
328 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA357102110 rs1158117104 |
328 | L>V | No |
ClinGen gnomAD |
|
|
rs763832206 CA2945215 |
329 | A>D | No |
ClinGen ExAC |
|
|
COSM1056934 CA2945216 rs751322242 |
329 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1444326264 CA357102058 |
331 | I>T | No |
ClinGen gnomAD |
|
|
rs1560538589 CA357102048 |
332 | P>S | No |
ClinGen Ensembl |
|
|
rs758207713 CA2945214 |
333 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA357102025 rs1212815439 |
334 | K>Q | No |
ClinGen gnomAD |
|
|
rs762266038 CA2945188 |
335 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762266038 CA357101318 |
335 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768888113 CA2945186 |
337 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1306173670 CA357101260 |
338 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM3940922 CA2945185 rs749427045 |
340 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2945181 rs140467396 |
341 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749630839 CA2945182 |
341 | G>R | Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749630839 CA2945183 |
341 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945180 rs151270111 |
342 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747953091 CA2945179 |
343 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs747953091 CA357101184 |
343 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201637982 CA357101166 |
344 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201637982 CA2945178 |
344 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945176 rs753384957 |
345 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA98840942 rs899767353 |
345 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA357101129 rs143304000 |
346 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143304000 CA2945175 |
346 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143304000 CA2945174 |
346 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1368559009 CA357101098 |
347 | L>F | No |
ClinGen gnomAD |
|
|
CA2945172 rs768129162 |
347 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2945171 rs199897601 |
348 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199897601 CA98840916 |
348 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1440299002 CA357101065 |
349 | L>F | No |
ClinGen gnomAD |
|
|
CA98840910 rs113096786 |
349 | L>P | No |
ClinGen Ensembl |
|
|
rs752134479 CA2945170 |
350 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149170366 CA2945169 |
351 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2945167 rs149001013 |
352 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146595211 CA2945168 |
352 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770067267 CA2945166 |
354 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs776740489 CA2945164 |
355 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945163 rs547128831 |
355 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776740489 CA357100969 |
355 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778931810 CA2945161 |
356 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945160 rs72551397 |
358 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs72551397 CA2945159 |
358 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2945158 rs779851457 |
359 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1459033250 CA357100874 |
359 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 359 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472122678 CA357100861 |
360 | N>I | No |
ClinGen TOPMed |
|
|
rs755891572 CA2945157 |
363 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2945134 rs146890806 |
364 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749935406 CA357100805 |
364 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749935406 CA2945156 |
364 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945131 rs539868084 |
365 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2945132 rs753028253 |
365 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs755358875 CA2945130 |
367 | K>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 369 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1383101988 CA357100500 |
369 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 370 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs570747517 CA98840042 |
371 | F>C | No |
ClinGen 1000Genomes |
|
|
CA2945127 rs760667684 |
372 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258248806 CA357100417 |
373 | T>N | No |
ClinGen gnomAD |
|
|
CA357100363 rs1485827081 |
376 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 376 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264030104 CA357100349 |
377 | A>T | No |
ClinGen gnomAD |
|
|
rs1357616602 CA357100328 |
378 | N>D | No |
ClinGen gnomAD |
|
|
rs1357616602 CA357100330 |
378 | N>H | No |
ClinGen gnomAD |
|
|
rs745660378 CA2945122 |
378 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945121 rs745660378 |
378 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246076192 CA357100271 |
379 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2945120 rs377330008 |
380 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2945119 rs770673374 |
380 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA2945118 rs746476624 |
381 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346195724 CA357099849 |
382 | E>K | No |
ClinGen TOPMed |
|
|
CA357099841 rs1298305916 |
383 | A>T | No |
ClinGen gnomAD |
|
|
rs1162417742 CA357099832 |
384 | I>N | No |
ClinGen gnomAD |
|
|
CA357099831 rs1162417742 |
384 | I>T | No |
ClinGen gnomAD |
|
|
rs1363401832 CA357099834 |
384 | I>V | No |
ClinGen gnomAD |
|
|
rs551085437 CA2945113 |
385 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748605878 CA2945115 |
385 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs757877255 CA2945116 |
385 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs754269662 CA2945112 |
386 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357099812 rs1195990243 |
387 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1281671447 CA357099816 |
387 | G>R | No |
ClinGen TOPMed |
|
|
rs1195990243 CA357099813 |
387 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA357099810 rs1267014905 |
388 | I>L | No |
ClinGen gnomAD |
|
|
CA2945108 rs767597896 |
389 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs530884474 CA2945107 |
390 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357099793 rs1489632951 |
390 | M>R | No |
ClinGen gnomAD |
|
|
CA2945105 rs765329320 |
391 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2945106 rs113129893 |
391 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA357099783 rs1219998844 |
392 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA357099775 rs1343110591 |
393 | I>T | No |
ClinGen gnomAD |
|
|
CA357099764 rs1322390708 |
395 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs770458111 CA2945102 |
397 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945101 rs760333531 |
397 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770458111 CA2945103 |
397 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979309340 CA98839909 |
397 | F>V | No |
ClinGen TOPMed |
|
| TCGA novel | 398 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772760993 CA2945100 |
399 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945098 rs144151608 |
400 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2945099 rs771552528 |
400 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769210589 CA2945096 |
402 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs142097172 CA2945094 |
403 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756470024 CA2945093 |
403 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1248834642 CA357099700 |
405 | H>P | No |
ClinGen gnomAD |
|
|
rs1435152974 CA357099703 |
405 | H>Y | No |
ClinGen gnomAD |
|
|
CA98839845 rs995677217 |
406 | M>R | No |
ClinGen TOPMed |
|
|
CA357099694 rs1198460812 |
406 | M>V | No |
ClinGen gnomAD |
|
|
rs1458594622 CA357099684 |
407 | K>T | No |
ClinGen gnomAD |
|
|
CA357099679 rs1202332944 |
408 | A>T | No |
ClinGen gnomAD |
|
|
CA2945091 rs781271372 |
409 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA2945089 rs757406086 |
410 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA98839825 rs185382950 |
411 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA98839790 rs375046767 |
415 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs140410140 CA2945085 |
415 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2945084 rs766148150 |
417 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546179431 CA2945083 |
418 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA98839781 rs753403707 |
418 | N>S | No |
ClinGen Ensembl |
|
|
rs1173286612 CA357099610 |
419 | T>A | No |
ClinGen gnomAD |
|
|
rs772855784 CA2945082 |
419 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440629883 CA357099601 |
420 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2945080 rs761301660 |
420 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2945077 rs143674057 |
421 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2945078 rs143674057 |
421 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2945079 rs143674057 |
421 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770125632 CA2945075 |
422 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2945074 rs746282175 |
423 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2945072 rs757599089 |
425 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361740890 CA357099573 |
425 | L>P | No |
ClinGen TOPMed |
|
|
rs751657295 CA2945071 |
426 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA357099569 rs1238985300 |
426 | L>P | No |
ClinGen gnomAD |
|
|
CA2945070 rs147440057 |
428 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357099559 rs147440057 |
428 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2945069 rs147440057 |
428 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2945068 rs753751068 |
428 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2945067 rs766231415 |
431 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA357099539 rs1334923398 |
431 | T>R | No |
ClinGen gnomAD |
|
|
rs1327459259 CA357099536 |
432 | V>L | No |
ClinGen TOPMed |
|
|
CA2945065 rs373187026 |
435 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2945066 rs373187026 |
435 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 435 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373187026 CA2945064 |
435 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357099515 rs1232817724 |
435 | D>Y | No |
ClinGen TOPMed |
|
|
rs1382886003 CA357099503 |
437 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1265305253 CA357099476 |
439 | K>E | No |
ClinGen gnomAD |
|
|
CA357099462 rs1450780638 |
440 | E>D | No |
ClinGen gnomAD |
|
|
rs1218930279 CA357099469 |
440 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 441 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357393571 CA357099450 |
442 | I>T | No |
ClinGen gnomAD |
|
|
CA2945042 rs201914215 |
442 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357099443 rs1316028362 |
443 | M>T | No |
ClinGen gnomAD |
|
|
CA98837573 rs1013056185 |
444 | K>Q | No |
ClinGen TOPMed |
|
|
rs1183093372 CA357099430 COSM1231693 |
445 | L>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs765742040 CA2945040 |
445 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs774908234 CA2945041 |
445 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759919241 CA2945039 |
447 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2945038 rs200919649 |
447 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531615670 CA2945037 |
448 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2945035 rs202195427 |
449 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1163983533 CA357099403 |
449 | Q>H | No |
ClinGen TOPMed |
|
|
rs369662379 CA2945034 |
450 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369662379 CA2945033 |
450 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357099395 rs1398724388 |
451 | D>N | No |
ClinGen TOPMed |
|
|
CA2945031 rs755119215 |
452 | Q>* | No |
ClinGen ExAC |
|
|
rs1577957954 CA357099379 COSM96837 |
453 | P>A | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 453 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357099364 rs1451776940 |
455 | K>R | No |
ClinGen TOPMed |
|
|
CA357099359 rs192052646 |
456 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192052646 CA2945028 |
456 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357099360 rs192052646 |
456 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2945026 rs149344532 |
457 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2945025 rs144149579 |
458 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764600893 CA2945024 |
459 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA357099344 rs764600893 |
459 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754330334 CA2945022 |
459 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2945021 rs754330334 |
459 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767059739 CA2945020 |
460 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218845016 CA357099334 |
461 | V>D | No |
ClinGen gnomAD |
|
|
CA2945017 rs773751461 |
463 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA2945018 rs546777670 |
463 | W>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2945016 rs772314569 |
464 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468445846 CA357099305 |
465 | E>D | No |
ClinGen TOPMed |
|
|
CA2945015 rs761889426 |
465 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA357099300 rs1161141498 |
466 | F>Y | No |
ClinGen TOPMed |
|
|
rs533617717 CA357099293 |
467 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533617717 CA2945013 |
467 | V>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1471695 CA2945014 rs774662170 |
467 | V>F | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs774662170 CA357099294 |
467 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2945012 rs749379154 |
468 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1469243377 CA357099287 |
468 | M>T | No |
ClinGen TOPMed |
|
|
rs200630131 CA98837461 |
469 | P>A | No |
ClinGen gnomAD |
|
|
rs564498687 CA2945011 |
469 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564498687 CA2945010 |
469 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200630131 CA357099283 |
469 | P>S | No |
ClinGen gnomAD |
|
|
rs746788514 CA2945008 |
470 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs544368980 CA2945007 |
471 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752225847 CA2945006 |
472 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs752225847 CA2945005 |
472 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs201490184 CA2945004 |
472 | G>V | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1280933217 CA357099249 |
475 | H>N | No |
ClinGen gnomAD |
|
|
CA357099244 rs1238283776 |
475 | H>R | No |
ClinGen gnomAD |
|
|
rs150196832 CA2945002 |
476 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2945001 rs766961348 |
476 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs150196832 CA357099241 |
476 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2945000 rs72551394 |
477 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2944998 rs767731098 |
477 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357099230 rs375210301 |
478 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2944997 rs375210301 |
478 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2944996 rs774375455 |
480 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200852364 CA2944995 |
481 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357099216 rs1417508938 |
481 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 482 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357099201 rs1441465615 |
483 | L>F | No |
ClinGen gnomAD |
|
|
CA357099193 rs138369385 |
484 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2944993 rs138369385 |
484 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2944992 rs762463283 |
485 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762463283 CA357099185 |
485 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181226046 CA357099187 |
485 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA357099188 rs1181226046 |
485 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746911423 CA2944991 |
488 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1174268784 CA357099166 |
488 | Y>D | No |
ClinGen TOPMed |
|
|
rs1214693678 CA357099148 |
490 | S>F | No |
ClinGen gnomAD |
|
|
CA98837398 rs956391965 |
491 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
CA357099144 rs956391965 |
491 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA357099138 rs1242841231 |
492 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777771882 CA2944990 |
492 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357099132 rs1320305559 |
493 | V>L | No |
ClinGen gnomAD |
|
|
rs145786860 CA2944989 |
494 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1560534875 CA357099117 |
495 | G>V | No |
ClinGen Ensembl |
|
|
CA2944988 rs748033185 |
496 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357099115 rs748033185 |
496 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357099104 rs140682516 |
498 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357099101 rs1577957748 |
498 | L>P | No |
ClinGen Ensembl |
|
|
CA2944986 rs754716978 |
499 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA357099078 rs1397714079 |
502 | A>S | No |
ClinGen gnomAD |
|
|
CA357099063 rs1560534848 |
504 | V>G | No |
ClinGen Ensembl |
|
|
rs1298572658 CA357099058 |
505 | I>T | No |
ClinGen gnomAD |
|
|
CA357099046 rs1455102543 |
507 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2944984 rs779659537 |
508 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755713568 CA2944983 |
508 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2944985 rs779659537 |
508 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750826122 CA357099032 |
509 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750826122 CA2944982 |
509 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357099019 rs1264098642 |
511 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs751999820 COSM1269717 CA2944979 |
511 | F>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA357099011 rs1487685745 |
512 | C>F | No |
ClinGen gnomAD |
|
|
rs1219077852 CA357099015 |
512 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 513 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324071178 CA357098996 |
514 | F>L | No |
ClinGen gnomAD |
|
|
rs764204162 CA2944977 |
516 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1560534805 CA357098967 |
518 | K>M | No |
ClinGen Ensembl |
|
|
CA357098963 rs1216322986 |
519 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 519 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2944976 rs763116977 |
520 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2944975 rs775723217 |
521 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2944974 rs765236030 |
522 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357098934 rs759627464 |
523 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357098937 rs1329086651 |
523 | G>R | No |
ClinGen gnomAD |
|
|
rs759627464 CA2944973 |
523 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772114451 CA357098918 |
525 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 525 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2944970 rs533634992 |
528 | R>K | No |
ClinGen 1000Genomes ExAC |
|
|
rs1458340649 CA357098898 |
528 | R>S | No |
ClinGen gnomAD |
|
|
CA2944969 rs774250069 |
529 | D>G | No |
ClinGen ExAC gnomAD |
No associated diseases with O75310
1 regional properties for O75310
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | UDP-glycosyltransferase family, conserved site | 356 - 399 | IPR035595 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.17 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| glucuronosyltransferase activity | Catalysis of the reaction: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular glucuronidation | The modification of an organic chemical by the conjugation of glucuronic acid. The substances resulting from glucuronidation are known as glucuronosides (or glucuronides) and are often much more water-soluble than the non-glucuronic acid-containing precursor. |
| estrogen metabolic process | The chemical reactions and pathways involving estrogens, C18 steroid hormones that can stimulate the development of female sexual characteristics. Also found in plants. |
| xenobiotic glucuronidation | The modification of a xenobiotic substance by the conjugation of glucuronic acid. The resultant glucuronosides are often much more water-soluble than the xenobiotic precursor, enabling efficient excretion. |
| xenobiotic metabolic process | The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
36 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q1LZI1 | UGT3A1 | UDP-glucuronosyltransferase 3A1 | Bos taurus (Bovine) | PR |
| P16662 | UGT2B7 | UDP-glucuronosyltransferase 2B7 | Homo sapiens (Human) | PR |
| Q16880 | UGT8 | 2-hydroxyacylsphingosine 1-beta-galactosyltransferase | Homo sapiens (Human) | PR |
| Q3SY77 | UGT3A2 | UDP-glucuronosyltransferase 3A2 | Homo sapiens (Human) | PR |
| P36537 | UGT2B10 | UDP-glucuronosyltransferase 2B10 | Homo sapiens (Human) | PR |
| Q64676 | Ugt8 | 2-hydroxyacylsphingosine 1-beta-galactosyltransferase | Mus musculus (Mouse) | PR |
| Q8JZZ0 | Ugt3a2 | UDP-glucuronosyltransferase 3A2 | Mus musculus (Mouse) | PR |
| Q09426 | Ugt8 | 2-hydroxyacylsphingosine 1-beta-galactosyltransferase | Rattus norvegicus (Rat) | PR |
| Q22295 | ugt-50 | Putative UDP-glucuronosyltransferase ugt-50 | Caenorhabditis elegans | PR |
| Q9LSY6 | UGT71B6 | UDP-glycosyltransferase 71B6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O22822 | UGT74F2 | UDP-glycosyltransferase 74F2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O23382 | UGT71B5 | UDP-glycosyltransferase 71B5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q5XF20 | UGT84A1 | UDP-glycosyltransferase 84A1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94AB5 | UGT76E12 | Flavonol 3-O-glucosyltransferase UGT76E12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FE68 | UGT71C5 | UDP-glycosyltransferase 71C5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FN28 | UGT79B9 | UDP-glycosyltransferase 79B9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LHJ2 | UGT82A1 | UDP-glycosyltransferase 82A1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LME8 | UGT85A7 | UDP-glycosyltransferase 85A7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LMF1 | UGT85A3 | UDP-glycosyltransferase 85A3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LML6 | UGT71C4 | Flavonol 3-O-glucosyltransferase UGT71C4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LML7 | UGT71C3 | UDP-glycosyltransferase 71C3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LS16 | UGT76E7 | UDP-glycosyltransferase 76E7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LSY4 | UGT71B8 | UDP-glycosyltransferase 71B8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LSY5 | UGT71B7 | UDP-glycosyltransferase 71B7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LSY9 | UGT71B1 | UDP-glycosyltransferase 71B1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LXV0 | UGT92A1 | UDP-glycosyltransferase 92A1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SCP5 | UGT73C7 | UDP-glycosyltransferase 73C7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SJL0 | UGT86A1 | UDP-glycosyltransferase 86A1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQ94 | UGT73C5 | UDP-glycosyltransferase 73C5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQ95 | UGT73C6 | UDP-glycosyltransferase 73C6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQ96 | UGT73C3 | UDP-glycosyltransferase 73C3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQ97 | UGT73C4 | UDP-glycosyltransferase 73C4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQ98 | UGT73C2 | UDP-glycosyltransferase 73C2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O48676 | UGT74B1 | UDP-glycosyltransferase 74B1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQG4 | UGT73B5 | UDP-glycosyltransferase 73B5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZVX4 | UGT90A1 | UDP-glycosyltransferase 90A1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTLKWTSVLL | LIHLSCYFSS | GSCGKVLVWA | AEYSHWMNMK | TILKELVQRG | HEVTVLASSA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SILFDPNDAS | TLKFEVYPTS | LTKTEFENII | MQQVKRWSDI | RKDSFWLYFS | QEQEILWELY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DIFRNFCKDV | VSNKKVMKKL | QESRFDIVFA | DAVFPCGELL | AALLNIRFVY | SLRFTPGYTI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ERHSGGLIFP | PSYIPIVMSK | LSDQMTFMER | VKNMIYVLYF | DFWFQMSDMK | KWDQFYSEVL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GRPTTLFETM | GKADIWLMRN | SWSFQFPHPF | LPNVDFVGGF | HCKPAKPLPK | EMEEFVQSSG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ENGVVVFSLG | SVISNMTAER | ANVIATALAK | IPQKVLWRFD | GNKPDALGLN | TRLYKWIPQN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DLLGHPKTRA | FITHGGANGI | YEAIYHGIPM | VGIPLFFDQP | DNIAHMKAKG | AAVRLDFNTM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SSTDLLNALK | TVINDPLYKE | NIMKLSRIQH | DQPVKPLDRA | VFWIEFVMPH | KGAKHLRVAA |
| 490 | 500 | 510 | 520 | ||
| HDLTWFQYHS | LDVIGFLLAC | VATVIFIITK | FCLFCFWKFA | RKGKKGKRD |