Q9BVI4
PR
Gene name |
NOC4L |
Protein name |
Nucleolar complex protein 4 homolog |
Names |
NOC4 protein homolog, NOC4-like protein, Nucleolar complex-associated protein 4-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79050 |
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 Q9BVI4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BVI4-F1 | Predicted | AlphaFoldDB |
706 variants for Q9BVI4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1389366705 CA387326566 |
2 | E>D | No |
ClinGen gnomAD |
|
|
rs765800396 CA6888788 |
2 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6888790 rs758772704 |
3 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs753205984 CA6888789 |
3 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387326616 CA6888791 rs778220342 |
4 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387326627 rs1331001171 |
5 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA387326624 rs1288726855 |
5 | P>S | No |
ClinGen gnomAD |
|
|
rs1264854541 CA387326634 |
6 | G>D | No |
ClinGen gnomAD |
|
|
rs1219277622 CA387326630 |
6 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1264854541 CA387326641 |
6 | G>V | No |
ClinGen gnomAD |
|
|
rs1488165669 CA387326646 |
7 | A>P | No |
ClinGen gnomAD |
|
|
CA6888792 rs751841077 |
7 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1248201823 CA387326671 |
8 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1248201823 CA387326672 |
8 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs748874647 CA6888795 |
9 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA387326705 rs1482183221 |
10 | V>D | No |
ClinGen gnomAD |
|
|
rs768290552 CA6888796 |
11 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs778512981 CA6888797 |
11 | R>H | No |
ClinGen ExAC TOPMed |
|
|
CA6888799 rs771866737 |
12 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387326726 rs771866737 |
12 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387326724 rs556531728 |
12 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773097883 CA387326747 |
13 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA387326732 rs1163215508 |
13 | A>T | No |
ClinGen gnomAD |
|
|
rs773097883 CA6888800 |
13 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA387326779 rs1304458145 |
16 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA387326783 rs1304458145 |
16 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1368222352 CA387326787 |
16 | R>H | No |
ClinGen gnomAD |
|
|
CA387326799 rs1308329510 |
17 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1408809279 CA387326798 |
17 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs760360991 CA387326806 |
18 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771197580 CA6888802 |
18 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA387326830 rs1322278986 |
20 | A>S | No |
ClinGen gnomAD |
|
|
rs1248144326 CA387326841 |
21 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA387326835 rs1248144326 |
21 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6888803 rs776828511 |
23 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776828511 CA246197840 |
23 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323272226 CA387326866 |
23 | A>P | No |
ClinGen TOPMed |
|
|
CA387326949 rs1372665065 |
27 | E>K | No |
ClinGen TOPMed |
|
|
CA6888804 rs576327785 |
28 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387327023 rs1166884496 |
29 | N>I | No |
ClinGen TOPMed |
|
|
rs1166884496 CA387327022 |
29 | N>S | No |
ClinGen TOPMed |
|
|
CA387327020 rs1166884496 |
29 | N>T | No |
ClinGen TOPMed |
|
|
CA387327031 rs1252824099 |
30 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1252824099 CA387327034 |
30 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA387327045 rs1158222439 |
31 | V>M | No |
ClinGen gnomAD |
|
|
CA387327083 rs1180513888 |
32 | F>L | No |
ClinGen gnomAD |
|
|
rs752669340 CA6888806 |
33 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1424885070 CA387327112 |
34 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763557627 CA387327134 |
35 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6888808 rs764488335 |
36 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246197872 rs892695344 |
37 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1203991903 CA387327197 |
39 | Q>R | No |
ClinGen TOPMed |
|
|
CA6888827 rs762355877 |
40 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs867690292 CA246198045 |
41 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 41 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387327356 rs750779647 |
42 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457676685 CA387327362 |
43 | Q>K | No |
ClinGen gnomAD |
|
|
rs754720974 CA6888830 |
43 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 44 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347030125 CA387327384 |
44 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1268283059 CA387327444 |
47 | Q>R | No |
ClinGen gnomAD |
|
|
CA6888831 rs764771791 |
48 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1346422763 CA387327485 |
49 | A>G | No |
ClinGen gnomAD |
|
|
CA387327497 rs1230717544 |
50 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs752307819 CA6888832 |
50 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA6888833 rs752307819 |
50 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs528849785 CA246198081 |
51 | R>C | No |
ClinGen 1000Genomes |
|
|
CA246198090 rs745942086 |
51 | R>L | No |
ClinGen TOPMed |
|
|
rs777269921 CA6888834 |
52 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1369515239 CA387327545 |
53 | C>G | No |
ClinGen TOPMed |
|
|
rs1565957302 CA387327580 |
54 | S>N | No |
ClinGen Ensembl |
|
|
CA387327596 rs1224814229 |
55 | R>C | No |
ClinGen gnomAD |
|
|
rs142163454 CA6888835 |
55 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387327599 rs1449304674 |
56 | L>F | No |
ClinGen gnomAD |
|
|
rs1449304674 CA387327604 |
56 | L>V | No |
ClinGen gnomAD |
|
|
rs994941486 CA246198113 |
58 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs151228906 CA6888837 CA6888836 |
58 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749461269 CA6888841 |
61 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6888842 rs372566460 |
63 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774444277 CA6888843 |
64 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA387327725 rs1403639858 |
64 | G>R | No |
ClinGen gnomAD |
|
|
CA387327738 rs1366314331 |
65 | E>G | No |
ClinGen gnomAD |
|
|
CA6888844 rs201062129 |
66 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1434224258 CA387327757 |
67 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 69 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 70 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768110580 CA6888845 |
70 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420878696 CA387327819 |
70 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA387327838 rs1281737074 |
71 | L>R | No |
ClinGen gnomAD |
|
|
rs374684182 CA6888846 |
72 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1354887216 CA387327843 |
72 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1459963962 CA387327865 |
73 | S>F | No |
ClinGen gnomAD |
|
|
CA387327869 rs1202576096 |
74 | E>Q | No |
ClinGen gnomAD |
|
|
CA6888849 rs765001986 |
76 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1250801383 CA387327907 |
76 | M>V | No |
ClinGen TOPMed |
|
|
rs1438121825 CA387327918 |
77 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 77 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758010709 CA6888851 |
79 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387327959 rs1472414693 |
79 | T>R | No |
ClinGen gnomAD |
|
|
rs200625573 CA6888852 |
80 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1429259735 CA387328487 |
82 | Q>L | No |
ClinGen gnomAD |
|
|
CA6888879 rs755207814 |
83 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6888881 rs750502253 |
85 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs747540001 CA6888884 |
86 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6888883 rs777937930 |
86 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288106015 CA387328555 |
87 | K>T | No |
ClinGen TOPMed |
|
|
CA6888886 rs776898752 |
89 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs11543306 CA246200179 |
91 | W>* | No |
ClinGen Ensembl |
|
|
rs768261123 CA6888888 |
92 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387328636 rs1423515050 |
92 | M>L | No |
ClinGen TOPMed |
|
|
CA6888889 rs773999739 |
93 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA246200198 rs924697852 |
95 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs756158873 COSM937216 CA6888890 |
95 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA387328736 rs1486198949 |
96 | Y>H | No |
ClinGen gnomAD |
|
|
rs140338310 CA6888892 |
97 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140338310 CA246200207 |
97 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA246200210 rs1040520625 |
98 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs921908961 CA246200215 |
100 | C>Y | No |
ClinGen TOPMed |
|
|
rs760573592 CA6888893 |
101 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766320330 CA6888894 |
102 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766320330 CA387328844 |
102 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs577947175 CA6888895 COSM1360201 |
102 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs577947175 CA6888896 |
102 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779981406 CA6888897 |
104 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387328932 rs752979327 |
107 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6888898 rs752979327 |
107 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246200243 rs932028653 |
108 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs932028653 CA387328943 |
108 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA387328955 rs1364452013 |
109 | H>D | No |
ClinGen gnomAD |
|
|
CA6888901 rs778028778 |
110 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs758641030 CA6888900 |
110 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA387329026 rs1348335863 |
114 | V>G | No |
ClinGen gnomAD |
|
|
rs1452614898 CA387330163 |
117 | L>V | No |
ClinGen gnomAD |
|
|
CA6888952 rs775563212 |
118 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs762927952 CA6888953 |
119 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1269246891 CA387330220 |
120 | S>G | No |
ClinGen gnomAD |
|
|
rs1339454275 CA387330241 |
121 | A>E | No |
ClinGen TOPMed |
|
|
rs375866510 CA6888955 |
121 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6888957 rs371881403 |
122 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387330288 rs1243807151 |
124 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs375092329 COSM1360202 CA6888959 |
126 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6888960 COSM3811523 rs766382261 |
127 | Q>H | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA387330397 rs1173245146 |
130 | G>* | No |
ClinGen gnomAD |
|
|
rs1427691360 CA387330412 |
131 | A>T | No |
ClinGen gnomAD |
|
|
CA387330420 rs1469735325 |
131 | A>V | No |
ClinGen gnomAD |
|
|
rs199832336 CA6888962 CA246201650 |
132 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368097576 CA246201649 |
132 | H>Y | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 133 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6888964 rs752969978 |
136 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6888965 rs371479539 |
137 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387330543 rs1223977141 |
140 | E>* | No |
ClinGen gnomAD |
|
|
CA387330547 rs1406821753 |
140 | E>G | No |
ClinGen gnomAD |
|
|
CA387330559 rs1322199929 |
141 | G>D | No |
ClinGen TOPMed |
|
|
CA387330584 rs1203487380 |
143 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387330609 rs1447767877 |
145 | F>L | No |
ClinGen gnomAD |
|
|
CA387330616 rs1267196941 |
146 | P>L | No |
ClinGen gnomAD |
|
|
rs779661569 CA6888969 |
146 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6888971 rs768448816 |
147 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs768448816 CA387330622 |
147 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA246201666 rs868171425 |
147 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs147656024 CA387330632 |
148 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147656024 CA6888972 |
148 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs889875632 CA246201890 |
153 | V>A | No |
ClinGen Ensembl |
|
|
rs142447795 CA6888999 |
153 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 154 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6889000 rs370177948 |
154 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6889001 rs372575646 |
155 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1461299747 CA387330828 |
155 | G>V | No |
ClinGen gnomAD |
|
|
rs1280580374 CA387330870 |
159 | S>F | No |
ClinGen TOPMed |
|
|
CA387330890 rs1334754082 |
161 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6889004 rs764585370 |
161 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6889006 rs755881673 |
162 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1371100656 CA387330925 |
163 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 163 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6889007 rs766118564 |
164 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6889008 rs753458687 |
165 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs754454799 CA6889009 |
166 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6889010 rs778433035 |
167 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748054380 CA387330970 |
168 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889012 rs758311489 |
169 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA387330985 rs1253635034 |
169 | S>C | No |
ClinGen TOPMed |
|
|
CA387330987 rs1253635034 |
169 | S>F | No |
ClinGen TOPMed |
|
|
rs994411269 CA246201923 |
170 | Q>H | No |
ClinGen Ensembl |
|
|
CA6889013 rs146645255 |
170 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202227049 CA387331012 |
172 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6889015 rs771199488 |
172 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246201928 rs771199488 |
172 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202227049 CA6889014 |
172 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA246201933 rs199897574 |
176 | D>G | No |
ClinGen TOPMed |
|
|
CA6889017 rs746035373 |
177 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6889020 rs199638081 |
178 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775599091 CA387331117 |
178 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889019 rs775599091 |
178 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593428323 CA387331134 |
179 | D>A | No |
ClinGen Ensembl |
|
|
CA6889022 rs774916512 |
179 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767928976 CA387331150 |
180 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593428328 CA387331142 |
180 | T>P | No |
ClinGen Ensembl |
|
|
rs767928976 CA6889024 |
180 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889025 rs369215601 |
181 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs759182697 CA387331155 |
181 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6889026 rs759182697 |
181 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889027 rs764680094 |
184 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387331189 rs112840884 |
184 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6889028 rs112840884 |
184 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1593428358 CA387331204 |
185 | M>T | No |
ClinGen Ensembl |
|
|
rs758376800 CA6889029 |
186 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA6889030 rs777672361 |
186 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6889031 rs751420540 |
187 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593428378 CA387331329 |
189 | V>E | No |
ClinGen Ensembl |
|
|
rs780906260 CA6889033 |
189 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs143756467 CA6889034 |
190 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs994452973 COSM3688069 CA246201986 |
192 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs749375574 CA6889037 |
194 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749375574 CA387331442 |
194 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763825435 CA6889036 |
194 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769356870 CA6889038 |
196 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA246202001 rs866243929 |
197 | G>S | No |
ClinGen Ensembl |
|
|
rs1489659996 CA387331499 |
198 | Q>E | No |
ClinGen TOPMed |
|
|
CA246202006 rs1025805787 |
199 | H>Y | No |
ClinGen TOPMed |
|
|
rs772591655 CA6889041 |
201 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 201 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593428529 CA387331736 |
202 | V>G | No |
ClinGen Ensembl |
|
|
CA387331747 rs1437124890 |
203 | P>L | No |
ClinGen TOPMed |
|
|
CA6889066 rs761788217 |
203 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246202131 rs761788217 |
203 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382294101 CA387331763 |
204 | P>H | No |
ClinGen gnomAD |
|
|
rs1382294101 CA387331771 |
204 | P>R | No |
ClinGen gnomAD |
|
| rs1402340327 | 205 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750253485 CA387331782 |
205 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 205 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750253485 CA6889068 |
205 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 207 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387331852 rs1407465405 |
207 | W>C | No |
ClinGen gnomAD |
|
|
CA6889069 rs755943915 |
207 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs141988623 COSM1322641 CA6889070 |
212 | T>M | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1593428569 CA387331971 |
212 | T>P | No |
ClinGen Ensembl |
|
|
rs755214754 CA387331993 |
213 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11543303 CA246202161 |
215 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs748212526 CA6889074 |
216 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748212526 CA387332103 |
216 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889076 rs201466638 |
217 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs989456064 CA246202186 |
219 | L>P | No |
ClinGen Ensembl |
|
|
rs776810673 CA6889079 |
220 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771339553 CA246202191 |
220 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889078 rs771339553 |
220 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889080 rs142341531 |
221 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387332212 rs1187050863 |
221 | R>H | No |
ClinGen gnomAD |
|
|
rs761309796 CA387332234 |
222 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761309796 CA6889083 |
222 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889082 rs200918523 |
222 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6889084 rs766872737 |
223 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 223 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387332289 rs760477400 |
224 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889086 rs760477400 |
224 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463317970 CA387332280 |
224 | P>S | No |
ClinGen gnomAD |
|
|
rs145983450 CA6889088 |
225 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372807012 CA246202217 |
226 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA387332390 rs1171633950 |
227 | S>C | No |
ClinGen gnomAD |
|
|
CA387332397 rs1565959411 |
228 | S>G | No |
ClinGen Ensembl |
|
|
CA6889091 rs752895441 |
228 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs777658725 CA6889093 |
230 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA6889092 rs758512094 |
230 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758512094 CA387332453 |
230 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149306359 CA6889094 |
231 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs548061561 CA6889095 |
233 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889097 rs148483243 |
233 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs548061561 CA6889096 |
233 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768363543 CA6889098 |
234 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202070598 CA6889099 |
234 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889134 rs756570745 |
236 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs911174746 CA246202355 |
237 | W>* | No |
ClinGen Ensembl |
|
|
CA387332912 rs1270138721 |
237 | W>C | No |
ClinGen gnomAD |
|
|
rs780432206 CA6889135 |
238 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 238 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387332977 rs1177430725 |
239 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6889136 rs368176253 |
239 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758131527 CA6889137 |
240 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA6889138 rs777289487 |
242 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6889139 rs746608443 |
243 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA387333170 rs1032362217 |
245 | L>P | No |
ClinGen TOPMed |
|
|
CA246202393 rs1032362217 |
245 | L>R | No |
ClinGen TOPMed |
|
|
rs770580126 CA6889140 |
245 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387333994 rs1399815841 |
247 | E>K | No |
ClinGen gnomAD |
|
|
rs1342913092 CA387334041 |
248 | H>R | No |
ClinGen gnomAD |
|
|
CA387334029 rs1279278191 |
248 | H>Y | No |
ClinGen gnomAD |
|
|
rs1218039964 CA387334048 |
249 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA387334056 rs1299982224 |
249 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1191396027 CA387334066 |
249 | R>S | No |
ClinGen TOPMed |
|
|
CA387334094 rs1593429380 |
250 | R>G | No |
ClinGen Ensembl |
|
|
rs1211722637 CA387334115 |
250 | R>S | No |
ClinGen gnomAD |
|
|
rs749190564 CA6889165 |
250 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA387334127 rs1283463637 |
251 | V>I | No |
ClinGen gnomAD |
|
|
rs1487814173 CA387334159 |
252 | F>S | No |
ClinGen gnomAD |
|
|
rs768357090 CA6889166 |
253 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA387334195 rs1265143540 |
254 | A>T | No |
ClinGen gnomAD |
|
|
rs957727026 CA246202832 |
254 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA387334248 rs1205989044 |
255 | M>T | No |
ClinGen TOPMed |
|
|
rs886999626 CA246202833 |
255 | M>V | No |
ClinGen Ensembl |
|
|
rs774154291 CA6889167 |
256 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA387334323 rs1424479031 |
257 | L>F | No |
ClinGen gnomAD |
|
|
CA246202836 rs989117813 |
258 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387334357 rs1433868629 |
258 | S>T | No |
ClinGen gnomAD |
|
|
CA387334399 rs1358826921 |
259 | F>C | No |
ClinGen gnomAD |
|
|
rs76665130 CA387334406 |
259 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387334421 rs1362921454 |
260 | L>H | No |
ClinGen gnomAD |
|
|
rs1362921454 CA387334431 |
260 | L>P | No |
ClinGen gnomAD |
|
|
CA387334434 rs1362921454 |
260 | L>R | No |
ClinGen gnomAD |
|
|
rs772256411 CA6889169 |
260 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387334438 rs1274788171 |
261 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA387334481 rs1439006532 |
263 | K>* | No |
ClinGen TOPMed |
|
|
rs1593429449 CA387334498 |
263 | K>R | No |
ClinGen Ensembl |
|
|
CA6889232 rs774824666 |
264 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774824666 CA6889233 |
264 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387334706 rs1399519082 |
265 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1399519082 CA387334709 |
265 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6889235 rs753351919 |
265 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764672274 CA6889237 |
266 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6889239 rs752657940 |
267 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs777588515 CA6889241 |
267 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1313939379 CA387334750 |
267 | S>R | No |
ClinGen TOPMed |
|
|
CA6889238 rs752657940 |
267 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6889240 rs777588515 |
267 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA387334758 rs1341025506 |
268 | L>F | No |
ClinGen gnomAD |
|
|
CA387334754 rs1341025506 |
268 | L>I | No |
ClinGen gnomAD |
|
|
rs757480431 CA6889242 |
268 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757480431 CA387334762 |
268 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387334789 rs1200043458 |
269 | Y>* | No |
ClinGen gnomAD |
|
|
rs200393480 CA246203128 |
269 | Y>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA387334792 rs1279646252 |
270 | K>E | No |
ClinGen gnomAD |
|
|
CA6889243 rs781473172 |
270 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279646252 CA387334790 |
270 | K>Q | No |
ClinGen gnomAD |
|
|
CA6889244 rs368103497 |
271 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA246203136 rs933771887 |
272 | V>L | No |
ClinGen gnomAD |
|
|
rs749851442 CA6889247 |
274 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs749851442 CA6889248 |
274 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6889249 rs774910711 |
275 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA6889252 rs776363015 |
276 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440506154 CA387334907 |
277 | H>R | No |
ClinGen TOPMed |
|
|
CA387334918 rs1277604560 |
278 | D>Y | No |
ClinGen TOPMed |
|
|
CA6889256 rs762928583 |
279 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs762928583 CA6889257 |
279 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs140762828 CA6889255 |
279 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs543985948 CA6889262 |
282 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543985948 CA387334990 |
282 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6889261 rs201814046 |
282 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387335009 rs749362211 |
283 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
CA6889265 rs755606601 |
285 | A>P | No |
ClinGen ExAC TOPMed |
|
|
rs755606601 CA246203200 |
285 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA6889266 rs199921500 |
285 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772512545 CA6889268 |
286 | Q>* | No |
ClinGen ExAC |
|
|
COSM1605817 CA6889271 CA6889272 rs529616528 |
286 | Q>H | Variant assessed as Somatic; impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs773413003 CA6889269 |
286 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199619878 CA6889275 |
288 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6889274 rs763528093 |
288 | T>P | No |
ClinGen ExAC TOPMed |
|
|
rs140480584 CA6889277 |
289 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1157676784 CA387335111 |
290 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA387335099 rs750161277 CA387335092 |
290 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs975458125 CA246203229 |
290 | M>T | No |
ClinGen TOPMed |
|
|
CA6889280 rs750161277 |
290 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs150462136 CA387335136 |
291 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6889283 rs766701011 |
291 | I>N | No |
ClinGen ExAC |
|
|
CA6889282 rs766701011 |
291 | I>T | No |
ClinGen ExAC |
|
|
CA6889281 rs756461078 |
291 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs955242104 CA246203244 |
292 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA246203241 rs778812666 |
292 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889285 rs778812666 |
292 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387335176 rs1389902442 |
293 | F>S | No |
ClinGen gnomAD |
|
|
CA6889287 rs758803171 |
294 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs778252863 CA6889288 |
294 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs778252863 CA387335197 |
294 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs769504776 CA6889290 |
295 | T>A | No |
ClinGen ExAC TOPMed |
|
|
CA387335208 rs1373294104 |
295 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1373294104 CA387335203 |
295 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs748881980 CA6889292 |
296 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889293 rs768185664 |
296 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748881980 CA387335221 |
296 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264101046 CA387335235 |
297 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1264101046 CA387335236 |
297 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA387335243 rs1348020222 |
297 | A>V | No |
ClinGen gnomAD |
|
|
CA387335247 rs1211024926 |
298 | C>R | No |
ClinGen gnomAD |
|
|
CA6889296 rs771889234 |
298 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs771889234 CA387335251 |
298 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1565960273 CA387335272 |
299 | D>E | No |
ClinGen Ensembl |
|
|
CA6889298 rs576894396 |
299 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387335266 rs576894396 |
299 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1565960299 CA387335286 |
300 | L>H | No |
ClinGen Ensembl |
|
|
rs1275394271 CA387335275 |
300 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1275394271 CA387335276 |
300 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6889405 rs377359390 |
301 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387335971 rs377359390 |
301 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369697781 CA6889307 CA246203293 |
301 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387335973 rs377359390 |
301 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369697781 CA387335292 |
301 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487846239 CA387335985 |
302 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA387335974 rs1283528934 |
302 | G>R | No |
ClinGen gnomAD |
|
|
rs1487846239 CA387335988 |
302 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746507936 CA246205679 |
303 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387336000 rs970221247 |
303 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs970221247 CA387336003 |
303 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs970221247 CA246205676 |
303 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746507936 CA6889410 |
303 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375555169 CA6889414 |
304 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6889413 rs745760339 |
304 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378803879 CA387336040 |
305 | S>N | No |
ClinGen gnomAD |
|
|
rs775316842 CA6889415 |
305 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889417 rs768850664 |
306 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA387336098 rs761884391 |
308 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387336095 rs1292428944 |
308 | A>S | No |
ClinGen gnomAD |
|
|
CA387336092 rs1292428944 |
308 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761884391 CA6889419 |
308 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438551183 CA387336119 |
309 | L>F | No |
ClinGen TOPMed |
|
|
CA6889420 rs767523244 |
309 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387336122 rs1224110882 |
310 | N>H | No |
ClinGen gnomAD |
|
|
rs1220754705 CA387336145 |
311 | G>E | No |
ClinGen gnomAD |
|
|
rs761201953 CA6889422 |
311 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387336179 rs762573403 |
313 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs377059700 CA6889428 |
314 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6889426 rs763839101 |
314 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA246205712 rs939066484 |
315 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA387336221 rs1199401173 |
316 | I>L | No |
ClinGen gnomAD |
|
|
CA6889429 rs780800497 |
317 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs750361497 CA6889431 |
317 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387336236 rs780800497 |
317 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA387336268 rs1394510648 |
318 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1404027632 CA387336261 |
318 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1164703824 CA387336264 |
318 | K>R | No |
ClinGen gnomAD |
|
|
CA6889435 rs77081180 |
319 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6889433 rs749103012 |
319 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889432 rs779770470 |
319 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs978764707 CA246205722 |
320 | N>S | No |
ClinGen Ensembl |
|
|
CA387336290 rs1442577734 |
320 | N>Y | No |
ClinGen gnomAD |
|
|
CA6889437 rs772166478 |
321 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889486 rs772938896 |
323 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA387336497 rs1417660642 |
323 | Y>H | No |
ClinGen gnomAD |
|
|
rs765951047 CA387336510 |
324 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs776094859 CA6889489 |
324 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA387336517 rs776094859 |
324 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs765951047 CA6889488 |
324 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6889490 rs759525409 |
325 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889491 rs765158113 |
325 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA387336534 rs759525409 |
325 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138348383 CA387336588 |
328 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138348383 CA6889494 |
328 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6889493 rs758229710 |
328 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246205870 rs1010061651 |
330 | L>F | No |
ClinGen gnomAD |
|
|
rs372168845 CA6889496 |
330 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1010061651 CA246205872 |
330 | L>V | No |
ClinGen gnomAD |
|
|
CA6889497 rs781472670 |
331 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM369268 CA6889500 rs376699339 |
332 | G>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1000492604 CA246205880 |
332 | G>D | No |
ClinGen gnomAD |
|
|
CA6889499 rs376699339 |
332 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769096350 CA6889502 |
333 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs769096350 CA6889503 |
333 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA387336691 rs1322928952 |
334 | L>F | No |
ClinGen TOPMed |
|
|
CA387336683 rs1460958961 |
334 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 335 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs987528107 CA246205890 |
335 | D>G | No |
ClinGen Ensembl |
|
|
CA6889506 rs776188129 COSM224448 |
335 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6889509 rs775432771 |
336 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889508 rs368824768 |
336 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387336728 rs1336738193 |
337 | S>F | No |
ClinGen gnomAD |
|
|
CA387336739 rs1386751561 |
338 | V>A | No |
ClinGen gnomAD |
|
|
rs920737634 CA246205899 |
339 | F>L | No |
ClinGen Ensembl |
|
|
CA6889513 rs762154233 |
339 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA387336764 rs1213744628 |
340 | H>L | No |
ClinGen gnomAD |
|
|
rs190283462 CA387336766 |
340 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6889516 rs756283280 |
341 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756283280 CA387336778 |
341 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889515 rs199775048 |
341 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387336789 rs1185193633 CA387336788 |
342 | K>N | No |
ClinGen gnomAD |
|
|
CA246205907 rs113737899 |
342 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387336796 rs1417049267 |
343 | Y>C | No |
ClinGen gnomAD |
|
|
rs1417049267 CA387336795 |
343 | Y>S | No |
ClinGen gnomAD |
|
|
CA6889520 rs758550684 |
344 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6889521 rs148223593 |
344 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387336820 rs149558270 |
345 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149558270 CA387336819 |
345 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6889523 rs149558270 |
345 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA246205914 rs201493263 |
345 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6889525 rs745477959 |
346 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745477959 CA6889524 |
346 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202053580 CA6889526 |
346 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387336830 rs202053580 |
346 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387336834 rs1191358856 |
347 | F>V | No |
ClinGen TOPMed |
|
|
rs1041502151 CA246205922 |
349 | H>P | No |
ClinGen Ensembl |
|
|
rs545671829 CA387336874 |
349 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6889528 rs768465592 |
349 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6889532 rs750704243 |
350 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs750704243 CA6889533 |
350 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs150774836 CA6889531 |
350 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1677495 CA246205933 rs1132100 |
351 | A>D | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1481439440 CA387336907 COSM3398549 |
353 | L>F | Variant assessed as Somatic; 4.988e-05 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6889537 rs376665964 |
354 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138057292 CA6889539 |
355 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6889541 rs774314429 |
356 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889543 rs369078892 |
358 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs554287010 COSM1706468 CA6889593 |
361 | P>S | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs554287010 CA6889592 |
361 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6889595 rs371212881 |
362 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387337024 rs1188782571 |
364 | L>P | No |
ClinGen TOPMed |
|
|
CA387337032 rs1469026041 |
366 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 366 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6889598 rs546236558 |
367 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 368 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387337046 rs1178178507 |
368 | F>L | No |
ClinGen gnomAD |
|
|
CA6889601 rs752337906 |
369 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1163577924 CA387337066 |
369 | A>V | No |
ClinGen gnomAD |
|
|
CA387337075 rs1462639075 |
370 | K>M | No |
ClinGen gnomAD |
|
|
CA6889603 rs777380219 |
371 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353604849 CA387337082 |
371 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1204487255 CA387337093 |
372 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA387337103 rs961174946 |
373 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA387337096 rs1353484558 |
373 | A>T | No |
ClinGen gnomAD |
|
|
rs961174946 CA246206062 |
373 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs111793692 CA6889605 |
374 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111793692 CA6889606 |
374 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6889607 rs375085598 |
374 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375085598 CA387337110 |
374 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752390595 CA6889609 |
378 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs749469090 CA6889610 |
378 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889611 rs749469090 |
378 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772628767 CA6889614 |
379 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246206079 rs772628767 |
379 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773523476 CA6889615 |
379 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6889617 rs766798878 |
380 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387337671 rs1416210289 |
380 | P>T | No |
ClinGen TOPMed |
|
|
CA387337688 rs762665769 |
381 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs762665769 CA387337685 |
381 | P>S | Variant assessed as Somatic; 0.0001534 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6889619 rs762665769 |
381 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6889620 rs748579276 |
382 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172188074 CA387337694 |
382 | E>K | No |
ClinGen gnomAD |
|
|
CA6889622 rs540675380 |
383 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6889621 rs540675380 |
383 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750273642 CA6889624 |
384 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs374828255 CA6889625 |
385 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6889626 rs779791527 |
385 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs369152566 CA387337729 |
386 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369152566 CA6889627 |
386 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387337745 rs1272426906 |
387 | V>A | No |
ClinGen TOPMed |
|
|
rs755176641 CA6889628 |
387 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748264070 CA6889630 |
389 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs201574244 CA6889629 |
389 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766151712 CA246206102 |
391 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs773789584 CA387337790 |
392 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773789584 CA6889632 |
392 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762753792 CA6889636 |
393 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889635 rs777115894 |
393 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs771464879 CA6889634 |
393 | N>Y | No |
ClinGen ExAC |
|
|
CA387337808 rs373511960 |
394 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs905101108 CA246206116 |
396 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs199689064 CA6889640 |
396 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs531773915 CA387337832 |
397 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144634478 CA6889642 |
397 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1677496 CA6889641 rs531773915 |
397 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1247458378 CA387337860 |
399 | P>L | No |
ClinGen TOPMed |
|
|
CA6889643 rs766216319 |
399 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387337865 rs1201129724 |
400 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6889647 rs369793802 |
402 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs564077156 CA6889646 |
402 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1282885838 CA387337890 |
403 | V>L | No |
ClinGen gnomAD |
|
|
rs1447111047 CA387337901 |
404 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6889652 rs777203946 |
405 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6889650 rs374210467 |
405 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374210467 CA6889651 |
405 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs539569004 COSM1360205 CA6889653 |
407 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6889654 rs148535195 |
407 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6889655 rs774078498 |
408 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs200091849 CA387337959 |
410 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772581008 CA6889658 |
410 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200091849 CA387337961 |
410 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6889657 rs200091849 |
410 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6889659 rs772581008 |
410 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766304436 CA6889660 |
411 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs766304436 CA387337966 |
411 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA387337974 rs1392551954 |
412 | E>Q | No |
ClinGen gnomAD |
|
|
CA6889687 rs151060257 |
415 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1266811786 CA387338022 |
415 | A>V | No |
ClinGen gnomAD |
|
|
rs780531667 CA387338028 |
416 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs757837676 CA246206196 |
416 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs757837676 CA387338023 |
416 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs757837676 CA387338024 |
416 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6889691 rs374699100 |
417 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA246206203 rs956278623 |
418 | Y>C | No |
ClinGen TOPMed |
|
|
CA6889693 rs777312017 |
419 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474905826 CA387338060 |
419 | D>V | No |
ClinGen gnomAD |
|
|
rs563034934 CA246206210 |
420 | P>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6889695 rs770466147 |
420 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1223709275 CA387338074 |
421 | G>R | No |
ClinGen TOPMed |
|
|
CA387338093 CA6889697 rs759529466 |
422 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889696 rs776095282 |
422 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769616627 CA6889698 |
423 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387338116 rs377518808 |
424 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6889699 rs775431420 |
424 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396084123 CA387338120 |
425 | P>A | No |
ClinGen gnomAD |
|
|
CA387338123 rs1421607238 |
425 | P>L | No |
ClinGen TOPMed |
|
|
rs1314338955 CA387338131 |
426 | A>S | No |
ClinGen gnomAD |
|
|
CA387338127 rs1314338955 |
426 | A>T | No |
ClinGen gnomAD |
|
|
CA246206220 rs1024518300 |
427 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs531830608 CA6889702 |
427 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6889701 rs763904197 |
427 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA246206221 rs919065508 |
428 | S>G | No |
ClinGen gnomAD |
|
|
rs763754275 CA6889705 |
429 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889704 rs763754275 |
429 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762098362 CA6889703 |
429 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889707 rs766806050 |
432 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387338206 rs1263468551 |
433 | S>R | No |
ClinGen TOPMed |
|
|
CA6889708 rs754321241 |
434 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387338217 rs1365492762 |
435 | L>V | No |
ClinGen gnomAD |
|
|
rs1192772086 CA387338231 |
436 | W>* | No |
ClinGen gnomAD |
|
| rs771941255 | 440 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406411672 CA387338318 |
440 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA387338321 rs1406411672 |
440 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6889740 rs561965346 |
441 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760918816 CA6889741 |
442 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889742 rs770965166 |
443 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889743 rs117349685 |
443 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 444 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387338375 rs1350149815 |
446 | H>N | No |
ClinGen gnomAD |
|
|
CA6889745 rs374348236 |
448 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374348236 CA6889744 |
448 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1565962371 CA387338398 |
448 | E>Q | No |
ClinGen Ensembl |
|
|
CA6889747 rs753146751 |
449 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889746 rs753146751 |
449 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387338432 rs1410373152 |
451 | K>R | No |
ClinGen gnomAD |
|
|
rs1593433583 CA387338451 |
452 | A>V | No |
ClinGen Ensembl |
|
|
CA6889750 rs755773641 |
453 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6889751 rs755773641 |
453 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289406306 CA387338468 |
454 | S>G | No |
ClinGen gnomAD |
|
|
rs141373941 CA6889753 |
455 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs779013901 CA246206395 |
457 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889755 rs372798627 |
457 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779013901 CA6889754 |
457 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772031190 CA6889756 |
458 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1253294216 CA387338532 |
459 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs771178478 CA6889759 |
460 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1363715369 CA685515564 |
461 | S>* | No |
ClinGen Ensembl |
|
|
rs1414051386 CA387338545 |
461 | S>C | No |
ClinGen gnomAD |
|
|
CA387338562 rs1430286725 CA387338560 |
462 | M>I | No |
ClinGen gnomAD |
|
|
rs1353731144 CA387338556 |
462 | M>T | No |
ClinGen gnomAD |
|
|
rs759625617 CA6889761 |
462 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769817973 CA6889762 |
463 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776009294 CA6889763 |
465 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA387338588 rs1565962412 |
465 | V>I | No |
ClinGen Ensembl |
|
|
CA387338617 rs994290009 |
467 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6889764 rs550210073 COSM937220 |
468 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6889765 rs764494708 |
468 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889767 rs760315749 |
469 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1271257759 CA387338629 |
469 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs766066006 CA6889768 |
470 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1485009453 CA387338649 |
471 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6889770 rs754563673 |
472 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200523825 CA6889771 |
473 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1392803721 CA387338673 |
474 | T>A | No |
ClinGen TOPMed |
|
|
CA6889772 COSM1746852 rs369988126 |
474 | T>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA6889774 rs376457318 |
475 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6889775 rs746825214 |
475 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770574714 CA6889776 |
476 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387338684 rs1373556018 |
476 | Y>N | No |
ClinGen gnomAD |
|
|
CA6889778 rs367698251 COSM692210 |
477 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1388907004 CA387338756 |
478 | I>T | No |
ClinGen gnomAD |
|
|
CA387338772 rs1386550167 |
480 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA387338774 rs1386550167 |
480 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs199587831 CA387338786 |
481 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387338787 rs542340436 |
481 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6889809 rs542340436 |
481 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199587831 CA6889808 |
481 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs553014478 CA6889810 |
482 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1329284723 CA387338798 |
482 | D>V | No |
ClinGen gnomAD |
|
|
rs1565962541 CA387338809 |
483 | L>P | No |
ClinGen Ensembl |
|
|
rs1159826611 CA387338823 |
485 | K>Q | No |
ClinGen TOPMed |
|
|
rs750219035 CA387338843 |
486 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs755842355 CA246206562 |
486 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6889814 rs750219035 |
486 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA246206568 rs988644452 |
487 | G>V | No |
ClinGen TOPMed |
|
|
CA6889818 rs117703883 |
488 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA246206592 rs541619548 |
489 | E>D | No |
ClinGen 1000Genomes |
|
|
rs772450880 CA6889821 |
489 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387338881 rs778357766 |
490 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889823 rs748251112 |
490 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889822 rs778357766 |
490 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387338891 rs1457600397 |
491 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs554699574 CA246206610 |
495 | F>V | No |
ClinGen gnomAD |
|
|
CA6889826 rs376286727 |
496 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768262730 CA6889827 |
497 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768262730 CA246206619 |
497 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271479586 CA387338957 |
498 | A>T | No |
ClinGen gnomAD |
|
|
CA246206625 rs370707521 |
498 | A>V | No |
ClinGen ESP |
|
|
rs772335707 CA6889829 |
499 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387338971 rs1245083271 |
499 | Q>P | No |
ClinGen gnomAD |
|
|
CA6889830 rs767451309 |
500 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 504 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6889832 rs564484388 |
504 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750306933 CA6889831 |
504 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6889833 rs144615315 |
505 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148821916 CA6889835 |
506 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 506 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387339027 rs1370465544 |
506 | G>S | No |
ClinGen gnomAD |
|
|
rs867567839 CA246206658 |
508 | L>I | No |
ClinGen Ensembl |
|
|
rs779113664 CA6889836 |
509 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA246206667 rs543605453 |
510 | A>G | No |
ClinGen Ensembl |
|
|
rs1432169894 CA387339077 |
511 | Q>* | No |
ClinGen gnomAD |
|
|
CA387339081 rs1300506798 |
511 | Q>R | No |
ClinGen gnomAD |
|
|
CA6889837 rs752722492 |
512 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA387339126 rs1314407747 |
514 | T>M | Variant assessed as Somatic; 5.615e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6889838 rs758446569 |
514 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA6889841 rs771464743 |
517 | S>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9BVI4
1 regional properties for Q9BVI4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CCAAT-binding factor | 305 - 453 | IPR005612 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| Noc4p-Nop14p complex | A heterodimer associated with precursors of the eukaryotic small ribosomal subunit, including the 90S preribosome; involved in small subunit biogenesis. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| small-subunit processome | A large ribonucleoprotein complex that is an early preribosomal complex. In S. cerevisiae, it has a size of 80S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q06512 | NOC4 | Nucleolar complex protein 4 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q5ZJC7 | NOC4L | Nucleolar complex protein 4 homolog | Gallus gallus (Chicken) | PR |
| Q8BHY2 | Noc4l | Nucleolar complex protein 4 homolog | Mus musculus (Mouse) | PR |
| Q5I0I8 | Noc4l | Nucleolar complex protein 4 homolog | Rattus norvegicus (Rat) | PR |
| P41843 | T20B12.3 | Uncharacterized protein T20B12.3 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEREPGAAGV | RRALGRRLEA | VLASRSEANA | VFDILAVLQS | EDQEEIQEAV | RTCSRLFGAL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LERGELFVGQ | LPSEEMVMTG | SQGATRKYKV | WMRHRYHSCC | NRLGELLGHP | SFQVKELALS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ALLKFVQLEG | AHPLEKSKWE | GNYLFPRELF | KLVVGGLLSP | EEDQSLLLSQ | FREYLDYDDT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RYHTMQAAVD | AVARVTGQHP | EVPPAFWNNA | FTLLSAVSLP | RREPTVSSFY | VKRAELWDTW |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KVAHLKEHRR | VFQAMWLSFL | KHKLPLSLYK | KVLLIVHDAI | LPQLAQPTLM | IDFLTRACDL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GGALSLLALN | GLFILIHKHN | LEYPDFYRKL | YGLLDPSVFH | VKYRARFFHL | ADLFLSSSHL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PAYLVAAFAK | RLARLALTAP | PEALLMVLPF | ICNLLRRHPA | CRVLVHRPHG | PELDADPYDP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GEEDPAQSRA | LESSLWELQA | LQRHYHPEVS | KAASVINQAL | SMPEVSIAPL | LELTAYEIFE |
| 490 | 500 | 510 | |||
| RDLKKKGPEP | VPLEFIPAQG | LLGRPGELCA | QHFTLS |