Q9NR96
Gene name |
TLR9 (UNQ5798/PRO19605) |
Protein name |
Toll-like receptor 9 |
Names |
CD antigen CD289 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54106 |
EC number |
|
Protein Class |
TOLL-LIKE RECEPTOR 7-RELATED (PTHR47410) |

Descriptions
TLR9 (Toll-like receptor 9) plays a key role in the innate immune system in response to unmethylated CpG DNA. After stimulation of cells with CpG DNA, TLR9 redistributes from the endoplasmic reticulum to lysosomes, where a signaling cascade is triggered by recruitment of the MyD88 adaptor molecule. TLR9 is a type I transmembrane protein characterized by an extracellular leucine-rich repeat (LRR) domain, a transmembrane helix, and an intracellular Toll/interleukin-1 receptor (TIR) homology domain. TLR9 undergoes proteolytic cleavage, executed by cysteine proteases, in the endolysosomal compartment, and molecular modeling shows that the cleavage sites are situated between LRR14 and LRR15, as being part of a flexible loop that could render TLR9 susceptible to proteolysis. On a molar basis, the C-terminal cleavage fragment of TLR9 binds CpG DNA more strongly than does full-length TLR9, although full-length TLR9 binds CpG DNA. The broadly specific inhibitor z-FA-fmk is most effective at blocking the cleavage and, accordingly, abrogated TNF production in cells exposed to the TLR9 agonist CpG DNA.
Autoinhibitory domains (AIDs)
Target domain |
24-806 (LRR domains) |
Relief mechanism |
Cleavage |
Assay |
Deletion assay |
Accessory elements
No accessory elements
References
- Tanji H et al. (2016) "Autoinhibition and relief mechanism by the proteolytic processing of Toll-like receptor 8", Proceedings of the National Academy of Sciences of the United States of America, 113, 3012-7
- Park B et al. (2008) "Proteolytic cleavage in an endolysosomal compartment is required for activation of Toll-like receptor 9", Nature immunology, 9, 1407-14
Autoinhibited structure

Activated structure

2 structures for Q9NR96
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
8AR3 | NMR | - | A | 812-860 | PDB |
AF-Q9NR96-F1 | Predicted | AlphaFoldDB |
825 variants for Q9NR96
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA353105861 rs1240996318 |
2 | G>D | No |
ClinGen gnomAD |
|
CA353105858 rs1273048547 |
3 | F>L | No |
ClinGen gnomAD |
|
VAR_024668 RCV000971495 CA2430897 rs5743842 |
5 | R>C | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2430896 rs199759037 COSM1424364 |
5 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA2430895 rs56172276 |
6 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353105732 rs1362089750 |
7 | A>D | No |
ClinGen gnomAD |
|
CA2430893 COSM1046839 rs150459369 |
7 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs202195635 CA74732836 |
9 | H>Y | No |
ClinGen TOPMed gnomAD |
|
rs370157255 CA2430892 |
10 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1270141629 CA353105641 |
11 | L>M | No |
ClinGen gnomAD |
|
rs1288470860 CA353105588 |
13 | L>F | No |
ClinGen gnomAD |
|
rs1394861605 CA353105537 |
15 | V>M | No |
ClinGen TOPMed |
|
rs1577981421 CA353105507 |
16 | Q>K | No |
ClinGen Ensembl |
|
CA2430888 rs139242193 |
18 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353105393 rs1186360916 |
18 | I>V | No |
ClinGen gnomAD |
|
CA2430887 rs746563907 |
19 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1241708543 CA2430885 |
22 | M>I | No |
ClinGen TOPMed |
|
rs1312227021 CA353105155 |
23 | T>A | No |
ClinGen TOPMed |
|
rs1277429812 CA353105116 |
23 | T>I | No |
ClinGen gnomAD |
|
CA74732820 rs918728499 |
25 | A>V | No |
ClinGen Ensembl |
|
CA2430882 rs754311214 |
26 | L>P | No |
ClinGen ExAC gnomAD |
|
rs1356994585 CA353105013 |
27 | G>D | No |
ClinGen gnomAD |
|
CA74732815 rs866728864 |
28 | T>I | No |
ClinGen Ensembl |
|
CA353104941 rs1245349119 |
29 | L>F | No |
ClinGen TOPMed |
|
rs1354121442 CA353104893 |
31 | A>D | No |
ClinGen TOPMed gnomAD |
|
rs1354121442 CA353104888 |
31 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA2430881 rs367677799 |
32 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs974271351 CA74732806 |
35 | C>F | No |
ClinGen Ensembl |
|
CA353104801 rs1239041600 |
35 | C>R | No |
ClinGen TOPMed |
|
rs892160452 CA74732803 |
38 | Q>L | No |
ClinGen Ensembl |
|
rs750628960 CA2430879 |
39 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1229630759 CA353104652 |
40 | H>Y | No |
ClinGen gnomAD |
|
rs200055519 CA2430877 |
41 | G>S | No |
ClinGen ExAC gnomAD |
|
CA74732795 rs952850329 |
44 | N>K | No |
ClinGen gnomAD |
|
rs201958063 CA74732793 |
45 | C>Y | No |
ClinGen gnomAD |
|
TCGA novel | 47 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
CA74732790 rs180715569 |
49 | F>V | No |
ClinGen Ensembl |
|
CA2430873 rs775461893 |
52 | S>F | No |
ClinGen ExAC gnomAD |
|
CA353104311 rs1257387558 |
54 | P>H | No |
ClinGen gnomAD |
|
CA2430872 rs764964193 |
55 | H>L | No |
ClinGen ExAC gnomAD |
|
CA2430871 rs55979550 |
58 | M>R | No |
ClinGen ExAC gnomAD |
|
rs750403100 CA74732781 |
58 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA2430869 rs374677585 |
60 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
rs770637836 CA2430868 |
61 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770637836 CA353104131 |
61 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430867 rs200596305 |
62 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs997645449 CA74732772 |
62 | R>H | No |
ClinGen gnomAD |
|
rs772719609 CA2430866 |
63 | G>D | No |
ClinGen ExAC gnomAD |
|
CA353104068 rs1464508419 |
64 | N>D | No |
ClinGen gnomAD |
|
CA353104044 rs1171569842 |
65 | V>I | No |
ClinGen gnomAD |
|
rs189941642 CA74732765 |
66 | T>I | No |
ClinGen 1000Genomes TOPMed |
|
CA353104024 rs1577981311 |
66 | T>P | No |
ClinGen Ensembl |
|
rs780558008 CA2430863 |
67 | S>R | No |
ClinGen ExAC gnomAD |
|
rs1183785127 CA353103942 |
69 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs756551977 CA2430862 |
70 | L>* | No |
ClinGen ExAC gnomAD |
|
CA353103924 rs756551977 |
70 | L>S | No |
ClinGen ExAC gnomAD |
|
CA2430861 rs746281362 |
74 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430860 rs781684117 |
74 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353103729 rs1319660926 |
77 | H>Q | No |
ClinGen gnomAD |
|
CA2430858 rs5743843 VAR_052364 |
79 | H>Q | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1246235772 CA353103702 |
79 | H>Y | No |
ClinGen gnomAD |
|
rs1020495230 CA74732752 |
83 | F>L | No |
ClinGen Ensembl |
|
CA2430857 rs751767849 |
83 | F>S | No |
ClinGen ExAC gnomAD |
|
rs1226463372 CA353103578 |
84 | A>V | No |
ClinGen TOPMed |
|
COSM3595893 | 85 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1299201604 CA353103568 |
85 | H>P | No |
ClinGen gnomAD |
|
CA2430855 rs201646083 |
85 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776469312 CA2430851 |
88 | S>R | No |
ClinGen ExAC gnomAD |
|
rs759389903 CA2430852 |
88 | S>R | No |
ClinGen ExAC gnomAD |
|
rs766103514 CA2430850 |
90 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353103487 rs1441565360 |
90 | R>W | No |
ClinGen gnomAD |
|
CA2430849 rs201572271 |
91 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1577981247 CA353103457 |
91 | H>Y | No |
ClinGen Ensembl |
|
rs200206317 CA2430848 |
93 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1166311703 CA353103366 |
94 | L>R | No |
ClinGen gnomAD |
|
rs747740029 CA2430846 |
96 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430845 rs773699082 |
98 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA2430844 rs5743844 |
99 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2430842 COSM3781847 rs781694864 |
100 | P>L | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1389105161 CA353103180 |
101 | V>A | No |
ClinGen gnomAD |
|
TCGA novel | 104 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1577981210 CA353103059 |
106 | M>R | No |
ClinGen Ensembl |
|
CA353103046 rs1577981209 |
107 | H>P | No |
ClinGen Ensembl |
|
rs1577981207 CA353103009 |
108 | F>S | No |
ClinGen Ensembl |
|
CA353102991 rs1295652148 |
109 | P>R | No |
ClinGen gnomAD |
|
CA2430840 rs747260036 |
111 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA353102893 rs1157043280 |
114 | I>V | No |
ClinGen gnomAD |
|
CA2430836 rs184563116 |
115 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs184563116 CA2430837 |
115 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA74732717 rs1026141784 |
116 | P>S | No |
ClinGen Ensembl |
|
rs1431366387 CA353102831 |
117 | S>N | No |
ClinGen gnomAD |
|
COSM3595892 | 118 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs149110022 CA2430834 |
121 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs149110022 CA2430835 |
121 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs148085174 CA2430833 |
122 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs56287816 CA2430832 |
123 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430831 rs201783734 |
124 | T>A | No |
ClinGen ExAC gnomAD |
|
rs974162456 CA74732702 |
124 | T>N | No |
ClinGen gnomAD |
|
rs201783734 CA74732705 |
124 | T>S | No |
ClinGen ExAC gnomAD |
|
CA353102627 rs1350834332 |
126 | E>G | No |
ClinGen gnomAD |
|
rs1262811850 CA353102553 |
129 | N>K | No |
ClinGen TOPMed |
|
rs761364189 CA2430829 |
135 | I>V | No |
ClinGen ExAC gnomAD |
|
CA2430828 rs200978876 |
136 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2430827 rs767987176 |
136 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA74732695 rs200978876 |
136 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM273352 | 139 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA353102276 rs1402656322 |
139 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA2430826 rs200627901 |
140 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1379324294 CA353102228 |
142 | P>A | No |
ClinGen gnomAD |
|
rs1379324294 CA353102226 |
142 | P>S | No |
ClinGen gnomAD |
|
CA353102190 rs1577981122 |
144 | S>P | No |
ClinGen Ensembl |
|
COSM1046837 | 146 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA2430823 rs747419130 |
147 | S>C | No |
ClinGen ExAC gnomAD |
|
COSM3595891 | 147 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA353102136 rs1577981119 |
147 | S>P | No |
ClinGen Ensembl |
|
CA353102131 rs1424057961 |
148 | L>M | No |
ClinGen TOPMed |
|
rs1577981105 CA353102117 |
149 | S>P | No |
ClinGen Ensembl |
|
rs376087748 CA2430821 |
149 | S>Y | No |
ClinGen ESP ExAC gnomAD |
|
CA2430819 rs779052425 |
150 | L>P | No |
ClinGen ExAC |
|
CA74732683 rs919277696 |
150 | L>V | No |
ClinGen TOPMed |
|
rs1342987320 CA353102034 |
152 | H>R | No |
ClinGen TOPMed |
|
CA353101977 rs1577981096 |
153 | T>P | No |
ClinGen Ensembl |
|
rs1224643512 CA353101840 |
156 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1298778487 CA353101700 |
161 | A>T | No |
ClinGen TOPMed |
|
rs201201841 CA2430813 |
163 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430810 rs763686449 |
164 | A>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 164 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1046836 CA2430811 rs200062660 |
164 | A>T | oesophagus endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs201740851 COSM6165006 COSM1538106 CA2430807 |
165 | G>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed |
rs771634375 CA2430806 |
166 | L>P | No |
ClinGen ExAC gnomAD |
|
COSM4118968 | 167 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1421307312 CA353101497 |
167 | H>Q | No |
ClinGen gnomAD |
|
rs1172566806 CA353101489 |
168 | A>S | No |
ClinGen gnomAD |
|
CA2430805 rs201098493 |
168 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA74732656 rs1011356526 |
170 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs199767102 CA2430803 |
170 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1046835 | 176 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1479202525 CA353101300 |
176 | G>S | No |
ClinGen TOPMed |
|
CA353101236 rs1405309670 |
177 | N>S | No |
ClinGen TOPMed |
|
CA353101256 rs1192636526 |
177 | N>Y | No |
ClinGen TOPMed |
|
rs768844402 CA2430800 |
180 | Y>H | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 181 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1438595607 CA353101101 |
181 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs749405730 CA2430799 |
182 | N>K | No |
ClinGen ExAC gnomAD |
|
CA2430798 rs780099835 |
183 | P>L | No |
ClinGen ExAC gnomAD |
|
rs780099835 RCV001172304 |
183 | P>R | No |
ClinVar dbSNP |
|
rs777760744 CA74732648 |
183 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA2430797 CA353101020 rs756098803 |
185 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430796 rs750300739 |
187 | A>E | No |
ClinGen ExAC gnomAD |
|
CA353100919 rs1577981012 |
190 | V>G | No |
ClinGen Ensembl |
|
CA353100932 rs1339785578 |
190 | V>M | No |
ClinGen Ensembl |
|
rs1330761016 CA353100897 COSM3696180 |
191 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
CA2430793 rs751351212 |
192 | P>L | No |
ClinGen ExAC gnomAD |
|
CA74732629 rs199542217 |
193 | G>D | No |
ClinGen TOPMed |
|
TCGA novel | 193 | G>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
CA353100858 rs1161158331 |
194 | A>T | No |
ClinGen gnomAD |
|
CA2430791 rs201050931 |
195 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353100819 rs1385403961 |
196 | L>P | No |
ClinGen gnomAD |
|
rs764783650 CA2430789 |
197 | G>A | No |
ClinGen ExAC gnomAD |
|
rs764783650 CA353100798 |
197 | G>D | No |
ClinGen ExAC gnomAD |
|
CA2430790 rs200383943 |
197 | G>S | No |
ClinGen ExAC gnomAD |
|
CA353100764 rs1438812490 |
199 | G>D | No |
ClinGen gnomAD |
|
CA353100746 rs1577980971 |
200 | N>T | No |
ClinGen Ensembl |
|
CA353100707 rs1376410257 |
202 | T>N | No |
ClinGen TOPMed |
|
rs1577980966 CA353100715 |
202 | T>P | No |
ClinGen Ensembl |
|
CA353100691 rs1361879205 |
203 | H>L | No |
ClinGen gnomAD |
|
CA353100695 rs1361879205 |
203 | H>P | No |
ClinGen gnomAD |
|
rs1007724971 CA74732617 |
206 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA353100568 rs1321350883 |
209 | N>D | No |
ClinGen gnomAD |
|
TCGA novel | 210 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs759945507 CA74732610 |
211 | L>F | No |
ClinGen gnomAD |
|
rs774746148 CA2430784 |
213 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353100442 rs1228312597 |
215 | P>L | No |
ClinGen TOPMed |
|
rs147453407 CA2430783 |
216 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA2430782 rs749495421 COSM285758 |
216 | R>H | Variant assessed as Somatic; MODERATE impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs140994532 CA2430781 |
217 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs929984846 CA74732602 |
217 | N>S | No |
ClinGen TOPMed |
|
CA353100283 rs1490930435 |
221 | S>R | No |
ClinGen TOPMed gnomAD |
|
rs769795689 CA2430780 |
221 | S>R | No |
ClinGen ExAC gnomAD |
|
CA2430778 rs781043967 |
223 | E>D | No |
ClinGen ExAC gnomAD |
|
CA2430779 rs201564821 |
223 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2430776 rs746846564 |
230 | N>D | No |
ClinGen ExAC gnomAD |
|
CA353100097 COSM4118967 rs1366842587 |
231 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs147300053 CA2430775 |
231 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs147300053 CA2430774 |
231 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2430772 rs137890561 |
233 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353100016 rs1297252503 |
234 | K>T | No |
ClinGen gnomAD |
|
CA2430770 rs753365019 |
236 | A>T | No |
ClinGen ExAC gnomAD |
|
CA2430769 rs201482702 |
236 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1174860358 CA353099943 |
238 | E>K | No |
ClinGen gnomAD |
|
rs978782016 CA74732575 |
240 | L>P | No |
ClinGen Ensembl |
|
CA2430767 rs774632252 |
242 | N>I | No |
ClinGen ExAC gnomAD |
|
CA353099818 rs774632252 |
242 | N>S | No |
ClinGen ExAC gnomAD |
|
CA74732571 rs200364422 |
243 | L>Q | No |
ClinGen TOPMed gnomAD |
|
CA74732569 rs200364422 |
243 | L>R | No |
ClinGen TOPMed gnomAD |
|
rs763164177 CA2430765 |
245 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1559437996 CA353099715 |
246 | L>P | No |
ClinGen Ensembl |
|
CA2430763 COSM1229413 rs769984937 |
247 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA74732562 COSM290543 rs749742285 |
247 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
CA353099672 rs1225248290 |
248 | V>L | No |
ClinGen gnomAD |
|
rs776772605 CA2430761 |
250 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1287019916 CA353099586 |
251 | V>M | No |
ClinGen gnomAD |
|
CA2430759 rs746908600 COSM1734823 |
253 | G>R | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA74732554 rs992576380 |
256 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs202089021 CA2430758 |
256 | R>H | No |
ClinGen ExAC gnomAD |
|
rs202089021 CA353099424 |
256 | R>L | No |
ClinGen ExAC gnomAD |
|
CA74732550 rs201149475 |
257 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA353099410 COSM1424363 rs1430528863 |
257 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
CA353099353 rs1421960438 |
259 | D>N | No |
ClinGen gnomAD |
|
COSM1424362 CA353099277 rs1482996940 |
261 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs1034146592 CA74732543 |
263 | N>K | No |
ClinGen Ensembl |
|
CA74732545 rs200870101 |
263 | N>S | No |
ClinGen TOPMed |
|
CA2430755 rs778756316 |
265 | C>S | No |
ClinGen ExAC gnomAD |
|
rs1461720605 CA353099106 |
266 | M>T | No |
ClinGen gnomAD |
|
rs754627415 CA2430754 |
266 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1577980835 CA353099074 |
267 | E>G | No |
ClinGen Ensembl |
|
CA74732538 rs1001378722 |
268 | C>R | No |
ClinGen Ensembl |
|
CA353099041 rs1225003881 |
268 | C>Y | No |
ClinGen gnomAD |
|
rs372334880 CA2430753 |
270 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs147338328 CA2430752 |
270 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA74732533 rs200060595 |
271 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA353098866 rs1452816146 |
273 | P>T | No |
ClinGen gnomAD |
|
CA74732529 rs968406997 |
274 | Q>* | No |
ClinGen TOPMed |
|
COSM3595889 | 277 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs199797502 COSM4118964 CA2430749 |
278 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs1189982304 CA353098569 |
280 | F>S | No |
ClinGen gnomAD |
|
TCGA novel | 282 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA2430747 rs753032218 |
285 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353098375 rs897140854 COSM1617836 |
285 | R>H | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs897140854 CA74732522 |
285 | R>P | No |
ClinGen TOPMed gnomAD |
|
rs1423460421 CA353098331 |
287 | E>* | No |
ClinGen gnomAD |
|
rs759791507 CA2430745 |
289 | L>P | No |
ClinGen ExAC gnomAD |
|
CA353098081 rs1559437926 |
293 | D>E | No |
ClinGen Ensembl |
|
rs1445268865 CA353098094 |
293 | D>G | No |
ClinGen gnomAD |
|
COSM731140 | 294 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1193981814 CA353098032 |
297 | S>P | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 297 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA353097979 rs1342379548 |
298 | W>C | No |
ClinGen TOPMed |
|
CA353097929 rs1476223719 |
301 | A>T | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 301 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs770978006 CA2430743 |
302 | S>I | No |
ClinGen ExAC gnomAD |
|
rs200788196 CA74732511 |
303 | W>* | No |
ClinGen Ensembl |
|
CA2430742 rs760563131 |
303 | W>S | No |
ClinGen ExAC gnomAD |
|
CA2430741 rs773233756 |
305 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 306 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs747995692 COSM1670242 CA2430739 |
311 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs141692865 CA2430738 |
311 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1005568000 CA74732502 |
312 | V>A | No |
ClinGen Ensembl |
|
rs1559437904 CA353097649 |
312 | V>M | No |
ClinGen Ensembl |
|
CA353097591 rs1195512596 |
313 | L>P | No |
ClinGen TOPMed |
|
rs1477781976 CA353097350 |
320 | L>F | No |
ClinGen TOPMed |
|
CA353097344 rs1299111372 |
320 | L>P | No |
ClinGen gnomAD |
|
CA353097237 rs1577980747 |
323 | C>Y | No |
ClinGen Ensembl |
|
CA353097156 rs1165668310 |
326 | K>Q | No |
ClinGen gnomAD |
|
CA353097003 rs1179656671 |
331 | Q>* | No |
ClinGen gnomAD |
|
rs202131815 CA2430731 COSM4734022 |
337 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs1489779545 CA353096842 |
337 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
COSM6097955 | 340 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA2430729 rs765584183 |
342 | S>F | No |
ClinGen ExAC gnomAD |
|
rs201312874 CA74732481 |
344 | N>S | No |
ClinGen TOPMed |
|
CA353096585 rs1275070203 |
348 | R>T | No |
ClinGen TOPMed |
|
rs1319273627 CA353096573 |
349 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA353096483 rs1577980699 |
353 | H>P | No |
ClinGen Ensembl |
|
rs1488551983 CA353096426 |
358 | P>A | No |
ClinGen TOPMed |
|
rs200074687 CA2430724 |
361 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs772198850 CA2430723 |
362 | S>N | No |
ClinGen ExAC gnomAD |
|
CA2430717 rs373946909 |
365 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2430716 rs373946909 |
365 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs924347558 CA74732456 COSM1229419 |
371 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs1327780209 CA353096245 |
371 | M>T | No |
ClinGen gnomAD |
|
rs780667225 CA2430714 |
371 | M>V | No |
ClinGen ExAC gnomAD |
|
CA353096229 rs1259167420 |
372 | H>D | No |
ClinGen gnomAD |
|
CA74732454 rs978547295 |
372 | H>P | No |
ClinGen TOPMed |
|
CA74732452 rs143200897 |
372 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM4118963 CA353096227 rs1259167420 |
372 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
COSM1424361 | 373 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs927023070 CA74732450 |
373 | G>S | No |
ClinGen Ensembl |
|
CA353096166 rs1559437844 |
376 | F>L | No |
ClinGen Ensembl |
|
rs980298299 CA74732447 |
377 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA353096150 rs1321938830 |
377 | R>H | No |
ClinGen gnomAD |
|
CA353096131 rs1285586024 |
379 | L>F | No |
ClinGen gnomAD |
|
CA2430708 rs754127798 |
380 | D>E | No |
ClinGen ExAC gnomAD |
|
rs201499670 CA2430710 |
380 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201499670 CA2430709 |
380 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs971236893 CA74732440 |
381 | E>D | No |
ClinGen Ensembl |
|
rs766661466 CA2430707 |
381 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1577980628 CA353096062 |
382 | T>P | No |
ClinGen Ensembl |
|
rs200533822 CA2430705 |
383 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs774303186 CA2430702 |
385 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs144717805 CA2430703 |
385 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs769544318 CA2430698 |
389 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430697 rs142357270 |
389 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs142357270 CA2430696 |
389 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1204748301 CA353095955 |
390 | L>M | No |
ClinGen gnomAD |
|
CA353095929 rs1339105704 |
392 | M>V | No |
ClinGen gnomAD |
|
CA353095909 rs1268690823 |
393 | L>F | No |
ClinGen gnomAD |
|
rs748679440 CA2430694 |
395 | T>I | No |
ClinGen ExAC gnomAD |
|
rs199736549 CA74732424 |
397 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs199736549 CA74732426 |
397 | R>G | No |
ClinGen Ensembl |
|
CA2430693 rs779526214 |
397 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA74732421 rs1006284456 |
398 | L>V | No |
ClinGen TOPMed |
|
COSM4819269 | 399 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA353095799 CA74732417 rs41308230 |
400 | M>I | No |
ClinGen TOPMed |
|
CA353095811 rs1163341375 |
400 | M>V | No |
ClinGen TOPMed |
|
CA353095784 rs1458754306 |
401 | N>S | No |
ClinGen TOPMed |
|
COSM1328132 | 404 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA2430692 rs755406172 |
404 | N>S | No |
ClinGen ExAC gnomAD |
|
rs755406172 CA353095734 |
404 | N>T | No |
ClinGen ExAC gnomAD |
|
rs866716615 CA74732414 |
406 | A>T | No |
ClinGen Ensembl |
|
rs749725833 CA2430691 |
406 | A>V | No |
ClinGen ExAC gnomAD |
|
rs745639056 CA2430690 |
408 | L>I | No |
ClinGen ExAC gnomAD |
|
CA2430688 rs200495784 |
409 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA74732408 rs200495784 |
409 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353095648 rs1243994424 |
410 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs1475539937 CA353095637 |
411 | F>L | No |
ClinGen gnomAD |
|
rs550218164 CA353095597 |
413 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs550218164 CA2430687 |
413 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 414 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA74732402 rs901314272 |
415 | P>L | No |
ClinGen Ensembl |
|
rs1181237457 CA353095574 |
415 | P>T | No |
ClinGen gnomAD |
|
rs751568161 CA2430684 |
418 | R>C | No |
ClinGen ExAC gnomAD |
|
rs550092930 CA74732398 |
418 | R>H | No |
ClinGen Ensembl |
|
CA2430682 rs762788064 |
419 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs201417455 CA2430681 |
420 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2430680 RCV000959560 rs764944818 |
421 | D>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2430676 rs148578023 |
423 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353095454 rs148578023 |
423 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1410273857 COSM4118962 CA353095402 |
426 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
CA2430674 rs199611737 |
426 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM6097956 | 429 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA2430672 rs561203848 COSM731141 |
429 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
rs368350972 CA2430670 |
431 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs368350972 CA2430669 |
431 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353095200 rs1231615025 |
434 | T>I | No |
ClinGen gnomAD |
|
CA353095190 rs1184457201 |
435 | A>T | No |
ClinGen gnomAD |
|
CA74732376 rs935650288 |
436 | T>I | No |
ClinGen TOPMed |
|
CA353095125 CA74732372 rs201448668 |
437 | M>I | No |
ClinGen TOPMed gnomAD |
|
CA353095150 rs751720030 |
437 | M>L | No |
ClinGen ExAC gnomAD |
|
rs1268506008 CA353095143 |
437 | M>T | No |
ClinGen gnomAD |
|
CA2430667 rs751720030 |
437 | M>V | No |
ClinGen ExAC gnomAD |
|
rs200559631 CA353095109 |
438 | G>A | No |
ClinGen gnomAD |
|
rs200559631 CA74732370 |
438 | G>E | No |
ClinGen gnomAD |
|
CA353095115 rs1361760252 |
438 | G>R | No |
ClinGen gnomAD |
|
COSM5216819 rs1223235663 |
439 | E>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
rs202223797 CA2430666 |
441 | D>G | No |
ClinGen ExAC gnomAD |
|
rs202223797 CA74732367 |
441 | D>V | No |
ClinGen ExAC gnomAD |
|
CA74732363 rs200813049 |
443 | G>R | No |
ClinGen Ensembl |
|
CA353095004 rs1300972125 |
444 | E>K | No |
ClinGen gnomAD |
|
rs758360470 CA2430664 |
445 | K>N | No |
ClinGen ExAC gnomAD |
|
rs200190729 CA2430663 |
446 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200190729 CA2430662 |
446 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200190729 CA353094970 |
446 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353094936 rs1157756109 |
447 | W>* | No |
ClinGen gnomAD |
|
rs373748615 CA2430659 |
449 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
rs1473155380 CA353094837 |
451 | G>E | No |
ClinGen gnomAD |
|
CA2430658 rs760228106 |
452 | D>E | No |
ClinGen ExAC gnomAD |
|
COSM1267931 CA2430657 rs146228125 |
455 | P>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA2430656 rs146228125 |
455 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353094776 rs1197626645 |
455 | P>S | No |
ClinGen gnomAD |
|
CA74732350 rs200091521 |
456 | A>P | No |
ClinGen gnomAD |
|
CA353094770 rs200091521 |
456 | A>T | No |
ClinGen gnomAD |
|
CA353094752 rs1286320128 |
457 | P>L | No |
ClinGen gnomAD |
|
CA353094742 rs1258972633 |
458 | V>A | No |
ClinGen TOPMed |
|
rs1258972633 CA353094740 |
458 | V>G | No |
ClinGen TOPMed |
|
rs746272802 CA2430653 |
459 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA2430652 rs746272802 |
459 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs200543932 CA2430651 |
461 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1322632187 CA353094710 |
461 | P>S | No |
ClinGen gnomAD |
|
CA2430650 rs201133673 |
462 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353094629 rs1287887590 |
467 | R>S | No |
ClinGen gnomAD |
|
rs747134694 CA2430649 |
468 | P>A | No |
ClinGen ExAC |
|
TCGA novel | 469 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs777940338 CA2430648 |
470 | C>F | No |
ClinGen ExAC gnomAD |
|
CA353094599 rs777940338 |
470 | C>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 472 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs374117701 CA2430647 |
472 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374117701 CA2430646 |
472 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA74732336 rs200116400 |
473 | L>F | No |
ClinGen Ensembl |
|
rs1458231824 CA353094531 |
474 | N>H | No |
ClinGen gnomAD |
|
rs961242459 CA74732334 |
474 | N>S | No |
ClinGen Ensembl |
|
CA74732329 rs201773500 |
481 | R>G | No |
ClinGen TOPMed gnomAD |
|
COSM2852651 rs200601173 CA2430643 |
481 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
CA353094384 rs201773500 |
481 | R>W | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 484 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs766101387 CA2430642 |
485 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750002586 CA2430640 |
486 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767076265 CA353094271 |
486 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs767076265 CA2430639 |
486 | T>S | No |
ClinGen ExAC gnomAD |
|
CA2430641 rs750002586 |
486 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430637 rs773966360 |
487 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430636 rs770483581 |
489 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs199540271 CA74732315 |
491 | M>T | No |
ClinGen Ensembl |
|
rs201649020 CA353094091 |
493 | A>D | No |
ClinGen gnomAD |
|
CA74732313 rs201649020 |
493 | A>V | No |
ClinGen gnomAD |
|
CA2430634 rs777140542 |
496 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1013997109 CA74732306 |
499 | Q>* | No |
ClinGen TOPMed gnomAD |
|
CA2430633 rs771161329 |
499 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs747281323 CA2430632 |
500 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199734250 CA2430631 COSM4734018 |
502 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
CA2430630 rs201440225 |
502 | R>H | No |
ClinGen ExAC gnomAD |
|
CA2430629 rs200224404 |
504 | S>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 505 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1444049124 CA353093716 |
506 | N>S | No |
ClinGen gnomAD |
|
rs754919914 CA2430627 |
509 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1488228492 CA353093577 |
513 | N>D | No |
ClinGen TOPMed |
|
rs1250552274 CA353093559 |
513 | N>S | No |
ClinGen gnomAD |
|
CA74732289 rs267599888 COSM36649 |
514 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA353093527 rs1217818548 |
514 | G>V | No |
ClinGen TOPMed |
|
rs1577980355 CA353093449 |
517 | F>S | No |
ClinGen Ensembl |
|
rs1021090913 CA74732287 |
519 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs755815220 CA2430624 |
519 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1313628899 CA353093300 |
522 | G>S | No |
ClinGen gnomAD |
|
rs1455049195 CA353093234 |
524 | Q>* | No |
ClinGen gnomAD |
|
CA353093186 rs1577980341 |
525 | V>G | No |
ClinGen Ensembl |
|
rs756928475 CA2430621 |
530 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353092996 rs1174928876 |
532 | K>E | No |
ClinGen TOPMed |
|
rs1356528648 CA353092932 |
535 | L>F | No |
ClinGen gnomAD |
|
CA353092855 rs1383453062 COSM3916361 |
538 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs141799890 CA2430617 |
539 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA74732273 rs200585692 |
542 | T>M | No |
ClinGen gnomAD |
|
rs760989847 CA2430615 |
545 | P>L | No |
ClinGen ExAC gnomAD |
|
rs760989847 CA353092658 |
545 | P>R | No |
ClinGen ExAC gnomAD |
|
CA74732270 rs905498105 |
545 | P>S | No |
ClinGen Ensembl |
|
CA74732264 rs947083609 |
546 | R>* | No |
ClinGen TOPMed gnomAD |
|
CA2430612 rs17846009 |
546 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs17846009 CA2430613 COSM1617835 |
546 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs1577980271 CA353092497 |
551 | D>A | No |
ClinGen Ensembl |
|
COSM4926082 | 551 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs774414920 CA2430611 |
553 | S>N | No |
ClinGen ExAC gnomAD |
|
rs768678941 CA353092399 |
555 | N>S | No |
ClinGen ExAC gnomAD |
|
CA2430610 rs768678941 |
555 | N>T | No |
ClinGen ExAC gnomAD |
|
rs749244791 CA2430609 |
556 | S>N | No |
ClinGen ExAC gnomAD |
|
rs199885824 CA2430608 |
557 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA2430607 rs756045938 |
558 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs745714862 CA2430606 |
559 | F>L | No |
ClinGen ExAC gnomAD |
|
rs201896507 CA74732250 |
560 | G>S | No |
ClinGen Ensembl |
|
CA353092157 rs200059070 |
564 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA74732247 rs200059070 COSM1424360 |
564 | V>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
COSM3775220 | 566 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs374460076 CA2430603 |
568 | F>V | No |
ClinGen ESP ExAC gnomAD |
|
CA2430602 rs751217567 |
569 | S>N | No |
ClinGen ExAC gnomAD |
|
rs115440379 RCV000884426 CA2430600 |
571 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1577980226 CA353091944 |
573 | H>P | No |
ClinGen Ensembl |
|
CA74732241 rs909740582 |
573 | H>Q | No |
ClinGen TOPMed |
|
rs752229105 CA2430599 |
575 | R>C | No |
ClinGen ExAC gnomAD |
|
CA2430597 rs192701551 |
575 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs192701551 CA2430598 |
575 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs773459682 CA2430596 |
576 | T>N | No |
ClinGen ExAC gnomAD |
|
rs1577980212 CA353091868 |
576 | T>P | No |
ClinGen Ensembl |
|
rs1438533732 CA353091836 |
577 | L>P | No |
ClinGen TOPMed |
|
rs767853618 CA2430595 |
578 | R>C | No |
ClinGen ExAC gnomAD |
|
rs200751137 CA74732230 |
578 | R>H | No |
ClinGen TOPMed |
|
rs1577980202 CA353091793 |
579 | H>P | No |
ClinGen Ensembl |
|
CA353091701 rs1410036819 |
581 | S>I | No |
ClinGen TOPMed |
|
CA353091669 rs1403421962 |
583 | A>T | No |
ClinGen TOPMed |
|
rs762049685 CA2430594 |
584 | H>L | No |
ClinGen ExAC gnomAD |
|
rs199719397 CA74732228 |
584 | H>Y | No |
ClinGen TOPMed gnomAD |
|
COSM1046833 | 585 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA74732223 rs200663962 |
588 | H>N | No |
ClinGen gnomAD |
|
rs774587357 CA74732219 |
595 | L>R | No |
ClinGen Ensembl |
|
CA2430589 rs572658072 |
596 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2430588 rs149970781 |
598 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs770800745 CA2430586 |
599 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1431030598 CA353091051 |
600 | L>P | No |
ClinGen gnomAD |
|
CA2430583 rs199788447 |
601 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200714733 CA2430584 |
601 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1215245832 CA353091012 |
602 | A>S | No |
ClinGen TOPMed |
|
rs1206320256 CA353090991 |
603 | L>V | No |
ClinGen gnomAD |
|
rs778432728 CA2430581 |
607 | G>S | No |
ClinGen ExAC gnomAD |
|
rs1203475069 CA353090796 |
609 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA353090774 rs1258046481 |
611 | G>S | No |
ClinGen gnomAD |
|
CA74732201 rs909361016 |
613 | M>I | No |
ClinGen TOPMed |
|
rs202141288 CA74732195 |
616 | E>A | No |
ClinGen Ensembl |
|
rs767792206 CA2430578 |
616 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM3595887 | 617 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA353090535 rs1293541461 |
619 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs762213729 CA2430577 |
620 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 621 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs539192498 CA2430575 |
622 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA353090369 rs1404073219 |
624 | F>L | No |
ClinGen gnomAD |
|
rs1481791404 CA353090347 |
625 | Q>R | No |
ClinGen gnomAD |
|
rs1461180978 CA353090314 |
626 | G>D | No |
ClinGen gnomAD |
|
rs201860133 CA74732190 |
626 | G>S | No |
ClinGen 1000Genomes gnomAD |
|
CA2430572 rs202065055 |
628 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200907891 CA353090269 |
628 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 629 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs34399053 CA2430570 COSM241915 |
629 | G>S | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs1217155929 CA353090211 |
632 | W>C | No |
ClinGen TOPMed |
|
rs1577980076 CA353090142 |
638 | N>T | No |
ClinGen Ensembl |
|
CA2430567 rs777700511 |
639 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353090131 rs777700511 |
639 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430566 rs771867596 |
639 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs747766747 CA2430565 |
642 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1577980069 CA353090097 |
642 | T>P | No |
ClinGen Ensembl |
|
CA353090070 rs1249798745 |
644 | L>P | No |
ClinGen gnomAD |
|
CA353090036 rs1209417305 |
647 | T>I | No |
ClinGen TOPMed |
|
rs1577980050 CA353090042 |
647 | T>P | No |
ClinGen Ensembl |
|
CA2430563 rs754458236 |
648 | L>V | No |
ClinGen ExAC gnomAD |
|
CA353090019 rs1314371566 |
649 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA353090021 rs1314371566 |
649 | R>G | No |
ClinGen TOPMed gnomAD |
|
CA2430562 rs202082899 COSM175135 |
649 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 649 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1314371566 CA353090022 |
649 | R>S | No |
ClinGen TOPMed gnomAD |
|
CA74732169 CA353090001 rs201034065 |
650 | N>K | No |
ClinGen TOPMed |
|
rs1577980034 CA353090007 |
650 | N>T | No |
ClinGen Ensembl |
|
rs1577980026 CA353089992 |
651 | L>P | No |
ClinGen Ensembl |
|
rs992280381 CA74732165 |
653 | K>Q | No |
ClinGen TOPMed |
|
rs150805215 CA2430559 |
653 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 655 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1046832 | 656 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs758580734 CA2430557 |
656 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1384070157 CA353089950 |
657 | V>M | No |
ClinGen gnomAD |
|
CA2430556 rs201883862 |
659 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430555 rs765355058 |
659 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430554 rs759702310 |
661 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353086408 rs759702310 |
661 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs939800947 CA74732158 |
661 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs1577979989 CA353086332 |
664 | Y>S | No |
ClinGen Ensembl |
|
rs766486365 CA2430552 |
665 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430551 rs760634405 |
666 | A>T | No |
ClinGen ExAC gnomAD |
|
CA2430550 rs773148312 |
667 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200974209 CA2430549 |
667 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353086256 rs1358414938 |
670 | W>R | No |
ClinGen gnomAD |
|
rs1559437280 CA353086251 |
670 | W>S | No |
ClinGen Ensembl |
|
rs1284674932 CA353086209 |
672 | S>T | No |
ClinGen gnomAD |
|
rs144698131 CA2430547 |
673 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2430546 rs768160968 |
674 | H>P | No |
ClinGen ExAC gnomAD |
|
CA353086171 rs201492068 |
674 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs145919121 CA2430544 |
678 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353086078 rs1577979946 |
681 | V>A | No |
ClinGen Ensembl |
|
CA353086085 rs1466784711 |
681 | V>F | No |
ClinGen gnomAD |
|
rs757774232 CA2430543 |
682 | L>F | No |
ClinGen ExAC gnomAD |
|
CA353086058 rs1470002044 |
683 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA353086016 rs1486589254 |
685 | A>T | No |
ClinGen TOPMed |
|
rs1577979930 CA353085965 |
687 | N>T | No |
ClinGen Ensembl |
|
rs752974071 CA2430539 |
690 | K>E | No |
ClinGen ExAC gnomAD |
|
rs765565816 CA2430538 |
692 | L>P | No |
ClinGen ExAC gnomAD |
|
CA353085812 rs1559880670 |
693 | T>I | No |
ClinGen Ensembl |
|
rs1262275709 CA353085810 |
694 | N>D | No |
ClinGen TOPMed |
|
CA353085794 rs965741284 |
694 | N>K | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 694 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs200668101 CA2430537 |
694 | N>S | No |
ClinGen ExAC gnomAD |
|
CA2430536 rs753984605 |
695 | G>S | No |
ClinGen ExAC gnomAD |
|
rs1195653141 CA353085754 |
696 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA353085727 rs1577979894 |
697 | L>P | No |
ClinGen Ensembl |
|
CA353085706 rs1376106057 |
698 | P>L | No |
ClinGen TOPMed |
|
CA2430535 rs766504452 |
700 | G>D | No |
ClinGen ExAC gnomAD |
|
CA74732125 rs868746147 |
701 | T>N | No |
ClinGen Ensembl |
|
CA74732121 rs1050578753 |
702 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA2430534 rs199773918 |
702 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA353085621 rs1397431776 |
703 | L>F | No |
ClinGen TOPMed |
|
rs761704908 CA2430531 |
704 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430532 COSM2852629 rs145698725 |
704 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1349946976 CA353085597 |
705 | R>K | No |
ClinGen gnomAD |
|
CA74732115 rs202130322 |
705 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353085580 rs1387020386 |
707 | D>N | No |
ClinGen gnomAD |
|
CA2430528 rs748833451 |
708 | V>I | No |
ClinGen ExAC gnomAD |
|
CA2430527 rs774984770 |
712 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1159164136 CA353085462 |
712 | S>N | No |
ClinGen gnomAD |
|
CA74732111 rs201308500 |
714 | S>T | No |
ClinGen Ensembl |
|
rs1384245534 CA353085323 |
715 | F>C | No |
ClinGen TOPMed |
|
CA353085305 rs1479085302 |
716 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
COSM1424359 | 719 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs375556098 CA353085232 |
719 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375556098 CA2430524 |
719 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 724 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA2430521 rs142377483 |
725 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1013859585 CA74732095 COSM4998904 |
728 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA |
CA2430518 rs754077069 |
729 | E>D | No |
ClinGen ExAC gnomAD |
|
CA74732093 COSM106782 rs144658278 |
729 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs1182054900 CA353084870 |
730 | L>F | No |
ClinGen TOPMed gnomAD |
|
COSM3775219 | 731 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA2430516 rs200579725 |
734 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM4118959 rs200579725 CA2430515 |
734 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1367791908 CA353084789 |
735 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs895456647 COSM1229418 CA74732085 |
736 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA353084773 rs1158620699 |
736 | A>V | No |
ClinGen TOPMed |
|
rs761641797 CA2430513 |
737 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751383938 CA2430512 |
738 | K>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 739 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 740 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1403448146 CA353084725 |
742 | H>N | No |
ClinGen gnomAD |
|
COSM3595886 | 743 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1174999668 CA353084704 |
744 | W>C | No |
ClinGen gnomAD |
|
rs1414813774 CA353084683 |
747 | P>L | No |
ClinGen gnomAD |
|
rs1184675036 CA353084677 |
749 | A>T | No |
ClinGen gnomAD |
|
rs762617367 CA2430509 |
749 | A>V | No |
ClinGen ExAC gnomAD |
|
CA2430507 rs148411655 |
750 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs759114677 CA2430506 |
751 | A>D | No |
ClinGen ExAC gnomAD |
|
CA2430505 rs776109297 |
752 | L>V | No |
ClinGen ExAC gnomAD |
|
CA353084654 rs1559880570 |
753 | Q>K | No |
ClinGen Ensembl |
|
rs1308470038 CA353084634 |
756 | D>N | No |
ClinGen TOPMed |
|
TCGA novel | 757 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1240920814 CA908071133 |
759 | A>* | No |
ClinGen TOPMed |
|
rs748541025 CA2430503 |
759 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1214449391 CA353084608 |
759 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs768851453 CA2430501 |
763 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs200101208 CA353084573 |
765 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2430499 rs200101208 |
765 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2430498 rs756397525 |
765 | A>V | No |
ClinGen ExAC gnomAD |
|
CA2430496 rs781072961 |
766 | C>G | No |
ClinGen ExAC gnomAD |
|
rs757223362 CA2430495 |
766 | C>Y | No |
ClinGen ExAC TOPMed |
|
CA2430493 rs200548286 |
768 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353084556 rs1428963616 |
768 | A>P | No |
ClinGen gnomAD |
|
rs200548286 CA74732056 |
768 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353084544 rs1413222625 |
769 | A>D | No |
ClinGen gnomAD |
|
CA353084552 rs1442838860 |
769 | A>T | No |
ClinGen gnomAD |
|
COSM3595884 | 772 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 773 | F>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA2430491 rs752486549 |
775 | L>R | No |
ClinGen ExAC gnomAD |
|
rs759134825 CA2430489 |
779 | A>P | No |
ClinGen ExAC gnomAD |
|
rs759134825 CA2430490 |
779 | A>T | No |
ClinGen ExAC gnomAD |
|
rs199915646 CA74732048 |
780 | A>V | No |
ClinGen Ensembl |
|
rs762409250 CA2430486 |
781 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353084266 rs1389913879 |
783 | G>D | No |
ClinGen TOPMed gnomAD |
|
COSM1229414 CA2430484 rs769171891 |
783 | G>S | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1311427036 CA353084197 |
785 | P>R | No |
ClinGen gnomAD |
|
CA74732038 rs988141890 COSM3696179 |
787 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs780551078 CA2430482 |
787 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430481 rs770152532 |
788 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1370997293 CA353084088 |
789 | K>M | No |
ClinGen gnomAD |
|
CA2430480 rs746020265 |
790 | C>Y | No |
ClinGen ExAC gnomAD |
|
CA353083998 rs1456153842 |
792 | S>G | No |
ClinGen gnomAD |
|
CA353083959 rs1339703035 |
793 | P>L | No |
ClinGen TOPMed |
|
rs1339703035 CA353083958 |
793 | P>Q | No |
ClinGen TOPMed |
|
CA2430478 rs371712112 |
794 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2430477 rs747080983 |
796 | L>V | No |
ClinGen ExAC gnomAD |
|
rs199709414 CA74732030 |
797 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs752504915 CA2430474 |
799 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1254469127 CA353083733 |
801 | I>L | No |
ClinGen gnomAD |
|
CA74732027 rs925350595 |
803 | A>T | No |
ClinGen Ensembl |
|
CA2430473 rs201970730 |
804 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430471 rs199768722 |
807 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201411213 CA2430469 |
811 | D>N | No |
ClinGen ExAC gnomAD |
|
rs772772031 CA2430468 |
812 | E>K | No |
ClinGen ExAC gnomAD |
|
CA74732018 rs1014224247 |
813 | A>V | No |
ClinGen Ensembl |
|
rs1481655033 CA353083296 |
816 | W>* | No |
ClinGen TOPMed |
|
TCGA novel | 817 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA2430467 rs779293320 |
818 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200268875 CA2430466 |
820 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2430465 rs200268875 |
820 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2430464 rs770242862 |
822 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1301069896 CA353083177 |
825 | A>T | No |
ClinGen TOPMed |
|
CA2430462 rs776759341 |
825 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1457994824 CA353083168 |
826 | V>M | No |
ClinGen gnomAD |
|
rs1374720655 CA353083155 |
827 | A>P | No |
ClinGen TOPMed |
|
rs1374720655 CA353083156 |
827 | A>T | No |
ClinGen TOPMed |
|
rs939400923 CA74732004 |
831 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs939400923 CA353083100 |
831 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs777853295 CA2430459 |
832 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353083080 rs1231099314 |
833 | P>T | No |
ClinGen TOPMed |
|
rs758340283 CA2430458 |
836 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs202058288 CA74731996 |
837 | H>Q | No |
ClinGen Ensembl |
|
TCGA novel | 837 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA2430457 rs200635689 |
837 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 845 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA2430455 rs754820202 |
846 | C>W | No |
ClinGen ExAC gnomAD |
|
COSM4118957 | 846 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4818083 | 848 | H>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1269717227 CA353082778 |
853 | W>R | No |
ClinGen gnomAD |
|
rs201883321 CA2430454 |
857 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200200453 CA74731986 |
857 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs766010083 CA2430453 |
858 | G>R | No |
ClinGen ExAC gnomAD |
|
CA353082675 rs1429803971 |
858 | G>V | No |
ClinGen TOPMed |
|
rs763585272 CA2430450 |
859 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763585272 COSM1566700 CA2430449 |
859 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA2430451 rs749912438 |
859 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430448 rs201014855 |
861 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs201014855 CA2430447 |
861 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2430444 rs148303873 |
862 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148303873 CA2430443 |
862 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs141461033 CA2430446 CA2430445 |
862 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM3427733 CA353082535 rs772094857 |
863 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
RCV000956636 VAR_034555 rs5743845 CA2430440 |
863 | R>Q | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA353082510 rs778857260 |
864 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778857260 CA2430439 |
864 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430438 rs768630458 |
865 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353082461 rs779837834 |
866 | D>H | No |
ClinGen ExAC gnomAD |
|
rs779837834 CA2430436 |
866 | D>N | No |
ClinGen ExAC gnomAD |
|
CA353082380 rs1198423186 |
869 | P>A | No |
ClinGen gnomAD |
|
CA2430434 rs755749895 |
869 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1235260637 CA353082309 |
871 | D>N | No |
ClinGen gnomAD |
|
rs756875974 CA2430432 |
872 | A>D | No |
ClinGen ExAC gnomAD |
|
rs756875974 CA353082271 |
872 | A>G | No |
ClinGen ExAC gnomAD |
|
rs201627440 CA2430430 |
874 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1395708601 CA353082147 |
877 | D>N | No |
ClinGen gnomAD |
|
rs1403302593 CA353082114 |
878 | K>R | No |
ClinGen gnomAD |
|
CA353082087 rs148993494 |
879 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs148993494 CA2430426 |
879 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs148993494 CA2430427 |
879 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353082025 rs200817942 |
881 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs5743846 VAR_052365 CA2430423 |
882 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
rs1184911795 CA353081947 |
885 | D>E | No |
ClinGen gnomAD |
|
CA353081954 rs1391526951 |
885 | D>G | No |
ClinGen gnomAD |
|
COSM6097957 | 886 | W>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1559880393 CA353081901 |
887 | V>M | No |
ClinGen Ensembl |
|
CA2430420 rs749180201 |
890 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779742290 CA2430419 |
891 | L>F | No |
ClinGen ExAC gnomAD |
|
COSM3696178 | 892 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1325467536 COSM264065 CA353081758 |
892 | R>W | Variant assessed as Somatic; MODERATE impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
rs1371871166 CA353081711 |
893 | G>A | No |
ClinGen TOPMed |
|
CA353081730 CA2430418 rs769582714 |
893 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1015130073 CA74731758 |
898 | C>S | No |
ClinGen Ensembl |
|
rs781058107 CA2430416 |
899 | R>C | No |
ClinGen ExAC gnomAD |
|
CA2430415 COSM1670241 rs756957650 |
899 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
COSM1229417 CA2430414 rs751129636 |
901 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
VAR_036077 COSM33465 rs755472700 CA2430412 |
901 | R>H | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
rs755472700 CA2430413 |
901 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353081467 rs751129636 |
901 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200216998 CA74731737 |
902 | W>* | No |
ClinGen gnomAD |
|
TCGA novel | 903 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA353081424 rs1370388414 |
903 | A>T | No |
ClinGen gnomAD |
|
CA2430411 COSM5822156 rs199785727 |
905 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
CA2430410 COSM271704 rs376675219 |
905 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
TCGA novel | 906 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1397950607 CA353081329 |
907 | C>R | No |
ClinGen gnomAD |
|
CA2430409 rs761146594 |
911 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1424356 | 911 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs996977969 COSM1046829 CA74731730 |
912 | D>N | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs201790525 CA74731724 |
916 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs369271245 CA74731713 |
917 | K>R | No |
ClinGen ESP TOPMed |
|
CA74731709 rs1019831022 |
918 | T>I | No |
ClinGen TOPMed |
|
rs762819270 CA2430404 |
919 | L>F | No |
ClinGen ExAC gnomAD |
|
CA2430403 rs762819270 |
919 | L>V | No |
ClinGen ExAC gnomAD |
|
CA353080953 rs200791761 |
925 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA74731698 rs200791761 |
925 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs775545937 CA2430402 |
926 | S>L | No |
ClinGen ExAC gnomAD |
|
rs202055087 CA74731689 |
927 | V>I | No |
ClinGen gnomAD |
|
rs776511982 CA2430399 |
930 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1350213511 CA353080797 |
930 | S>N | No |
ClinGen gnomAD |
|
rs201146442 COSM2852616 CA74731675 |
931 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs201071010 CA2430398 |
931 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2430397 rs746622200 COSM33147 VAR_036078 |
933 | T>M | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
CA2430394 rs747584295 |
935 | F>L | No |
ClinGen ExAC gnomAD |
|
rs780682624 CA2430393 |
936 | V>M | No |
ClinGen ExAC gnomAD |
|
CA74731658 rs202053090 |
938 | A>D | No |
ClinGen Ensembl |
|
rs1410887458 CA353080534 |
939 | H>Q | No |
ClinGen gnomAD |
|
CA2430391 rs201197940 |
940 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs751729676 CA2430388 |
942 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA2430389 rs544128726 |
942 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353080473 rs1292157790 |
943 | V>I | No |
ClinGen gnomAD |
|
rs936600036 CA74731644 |
944 | S>G | No |
ClinGen Ensembl |
|
CA74731641 rs1019590992 |
945 | G>C | No |
ClinGen Ensembl |
|
CA353080432 rs1328769300 |
945 | G>D | No |
ClinGen gnomAD |
|
COSM4933341 | 945 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA2430386 rs763133045 |
946 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353080415 rs1343384382 |
946 | L>P | No |
ClinGen gnomAD |
|
CA74731622 COSM3783735 rs369679861 |
948 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs369679861 CA353080391 |
948 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs201739665 CA2430384 |
948 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA2430385 rs369679861 |
948 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2430382 rs776600993 |
949 | A>T | No |
ClinGen ExAC gnomAD |
|
CA353080363 rs1387454897 |
949 | A>V | No |
ClinGen gnomAD |
|
rs1422851190 CA353080278 |
954 | A>G | No |
ClinGen gnomAD |
|
rs1577979350 CA353080284 |
954 | A>S | No |
ClinGen Ensembl |
|
rs771623304 CA2430378 |
960 | E>D | No |
ClinGen ExAC gnomAD |
|
COSM3595882 | 960 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs55881257 CA2430377 |
962 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201773280 CA2430375 |
962 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201773280 CA2430376 |
962 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 963 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3595881 | 964 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA2430373 rs183735837 |
965 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1304904381 CA353080012 |
969 | V>A | No |
ClinGen gnomAD |
|
CA2430371 rs751838801 |
969 | V>M | No |
ClinGen ExAC gnomAD |
|
CA353079973 rs1418858521 |
972 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1559880264 CA353079954 |
973 | P>L | No |
ClinGen Ensembl |
|
rs55846319 CA2430367 |
975 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs55846319 CA2430368 |
975 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2430366 rs201076939 |
976 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776761731 CA2430365 COSM1734822 |
976 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA353079913 rs201076939 |
976 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430364 rs375003304 |
977 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
CA353079864 rs1396810210 |
977 | R>H | No |
ClinGen gnomAD |
|
CA2430363 rs760617877 |
979 | R>C | No |
ClinGen ExAC gnomAD |
|
rs200209731 CA2430362 |
979 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1414552763 CA353079796 |
981 | V>M | No |
ClinGen TOPMed |
|
rs773946672 CA2430359 |
982 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs142806370 COSM4118955 CA2430360 |
982 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs140585419 CA2430358 |
984 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
CA2430357 rs748775653 |
984 | R>H | No |
ClinGen ExAC gnomAD |
|
COSM3974485 | 984 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3595880 | 985 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA2430356 rs781694343 |
986 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1019357651 CA74731541 |
986 | R>H | No |
ClinGen TOPMed |
|
CA353079660 rs1340800121 |
987 | L>F | No |
ClinGen gnomAD |
|
COSM4118953 CA2430355 rs747414072 |
989 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs201478487 CA2430353 |
989 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA353079599 rs201478487 |
989 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM2152900 rs747414072 CA2430354 |
989 | R>S | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1283307998 CA353079577 |
990 | Q>* | No |
ClinGen gnomAD |
|
CA2430351 rs752812185 |
990 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA74731529 rs200488254 |
990 | Q>R | No |
ClinGen Ensembl |
|
CA2430350 rs779252979 |
991 | S>I | No |
ClinGen ExAC gnomAD |
|
rs1486529388 CA353079526 |
991 | S>R | No |
ClinGen TOPMed |
|
CA353079520 rs1306072174 |
992 | V>L | No |
ClinGen gnomAD |
|
rs1371188266 CA353079395 |
996 | P>T | No |
ClinGen gnomAD |
|
CA353079360 rs1577979246 |
997 | H>Y | No |
ClinGen Ensembl |
|
rs1422209553 CA353079327 |
998 | Q>* | No |
ClinGen gnomAD |
|
rs892288735 CA74731514 |
999 | P>S | No |
ClinGen gnomAD |
|
rs202060477 CA74731508 |
1000 | S>G | No |
ClinGen Ensembl |
|
CA353079269 rs1290763697 |
1000 | S>N | No |
ClinGen gnomAD |
|
CA2430345 rs376972467 |
1001 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 1002 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs200911364 CA74731503 |
1003 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs200136984 CA2430344 |
1003 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353079161 rs1206004314 |
1004 | S>R | No |
ClinGen gnomAD |
|
rs1251316202 CA353079169 |
1004 | S>T | No |
ClinGen gnomAD |
|
CA74731492 rs946743122 |
1007 | A>S | No |
ClinGen TOPMed |
|
rs200965458 CA2430342 |
1008 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA353078975 rs1398517138 |
1011 | M>T | No |
ClinGen TOPMed |
|
rs199839624 CA74731485 |
1011 | M>V | No |
ClinGen TOPMed |
|
rs201853430 CA2430340 |
1015 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs555536034 CA74731481 |
1015 | R>S | No |
ClinGen Ensembl |
|
CA353078874 rs201853430 |
1015 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA74731478 rs533787193 |
1016 | D>E | No |
ClinGen gnomAD |
|
rs1351034672 CA353078769 |
1018 | H>N | No |
ClinGen gnomAD |
|
rs762518214 CA2430338 |
1023 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA2430339 rs200896211 |
1023 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774968315 CA2430337 |
1026 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2430336 rs771432576 |
1029 | P>L | No |
ClinGen ExAC gnomAD |
|
rs148852303 CA2430334 |
1030 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2430335 rs148852303 |
1030 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2430330 rs144798707 |
1032 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2430331 rs144798707 |
1032 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with Q9NR96
No regional properties for Q9NR96
Type | Name | Position | InterPro Accession |
---|---|---|---|
No domain, repeats, and functional sites for Q9NR96 |
Functions
Description | ||
---|---|---|
EC Number | ||
Subcellular Localization |
|
|
PANTHER Family | PTHR47410 | TOLL-LIKE RECEPTOR 7-RELATED |
PANTHER Subfamily | PTHR47410:SF3 | TOLL-LIKE RECEPTOR 9 |
PANTHER Protein Class | transmembrane signal receptor | |
PANTHER Pathway Category |
Toll receptor signaling pathway TLR |
14 GO annotations of cellular component
Name | Definition |
---|---|
apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
early phagosome | A membrane-bounded intracellular vesicle as initially formed upon the ingestion of particulate material by phagocytosis. |
endolysosome | An transient hybrid organelle formed by fusion of a late endosome with a lysosome, and in which active degradation takes place. |
endolysosome membrane | The lipid bilayer surrounding an endolysosome. An endolysosome is a transient hybrid organelle formed by fusion of a late endosome with a lysosome. |
endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
endosome | A vacuole to which materials ingested by endocytosis are delivered. |
endosome membrane | The lipid bilayer surrounding an endosome. |
extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
Name | Definition |
---|---|
interleukin-1 receptor binding | Binding to an interleukin-1 receptor. |
pattern recognition receptor activity | Combining with a pathogen-associated molecular pattern (PAMP), a structure conserved among microbial species to initiate an innate immune response. |
protein homodimerization activity | Binding to an identical protein to form a homodimer. |
siRNA binding | Binding to a small interfering RNA, a 21-23 nucleotide RNA that is processed from double stranded RNA (dsRNA) by an RNAse enzyme. |
unmethylated CpG binding | Binding to uan nmethylated CpG motif. Unmethylated CpG dinucleotides are often associated with gene promoters. |
46 GO annotations of biological process
Name | Definition |
---|---|
cellular response to chloroquine | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chloroquine stimulus. |
cellular response to lipopolysaccharide | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. |
cellular response to metal ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metal ion stimulus. |
defense response to bacterium | Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. |
defense response to Gram-negative bacterium | Reactions triggered in response to the presence of a Gram-negative bacterium that act to protect the cell or organism. |
defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
detection of molecule of bacterial origin | The series of events in which a stimulus from a molecule of bacterial origin is received and converted into a molecular signal. |
I-kappaB kinase/NF-kappaB signaling | The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. |
innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
maintenance of gastrointestinal epithelium | Protection of epithelial surfaces of the gastrointestinal tract from proteolytic and caustic digestive agents. |
male gonad development | The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure. |
microglial cell activation | The change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. |
MyD88-dependent toll-like receptor signaling pathway | A toll-like receptor signaling pathway in which the MyD88 adaptor molecule mediates transduction of the signal. Toll-like receptors directly bind pattern motifs from a variety of microbial sources to initiate an innate immune response. |
negative regulation of ATPase-coupled calcium transmembrane transporter activity | Any process that stops, prevents or reduces the frequency, rate or extent of an ATPase-coupled calcium transmembrane transporter activity. |
negative regulation of ERK1 and ERK2 cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
positive regulation of autophagy | Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
positive regulation of B cell activation | Any process that activates or increases the frequency, rate or extent of B cell activation. |
positive regulation of B cell proliferation | Any process that activates or increases the rate or extent of B cell proliferation. |
positive regulation of chemokine production | Any process that activates or increases the frequency, rate, or extent of chemokine production. |
positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
positive regulation of granulocyte macrophage colony-stimulating factor production | Any process that activates or increases the frequency, rate, or extent of granulocyte macrophage colony-stimulating factor production. |
positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
positive regulation of immunoglobulin production | Any process that activates or increases the frequency, rate, or extent of immunoglobulin production. |
positive regulation of inflammatory response | Any process that activates or increases the frequency, rate or extent of the inflammatory response. |
positive regulation of interferon-alpha production | Any process that activates or increases the frequency, rate, or extent of interferon-alpha production. |
positive regulation of interferon-beta production | Any process that activates or increases the frequency, rate, or extent of interferon-beta production. |
positive regulation of interleukin-10 production | Any process that activates or increases the frequency, rate, or extent of interleukin-10 production. |
positive regulation of interleukin-12 production | Any process that activates or increases the frequency, rate, or extent of interleukin-12 production. |
positive regulation of interleukin-18 production | Any process that activates or increases the frequency, rate, or extent of interleukin-18 production. |
positive regulation of interleukin-6 production | Any process that activates or increases the frequency, rate, or extent of interleukin-6 production. |
positive regulation of interleukin-8 production | Any process that activates or increases the frequency, rate, or extent of interleukin-8 production. |
positive regulation of intestinal epithelial cell development | Any process that activates or increases the frequency, rate or extent of intestinal epithelial cell development. |
positive regulation of JNK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade. |
positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. |
positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
positive regulation of NIK/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of NIK/NF-kappaB signaling. |
positive regulation of toll-like receptor 9 signaling pathway | Any process that activates or increases the frequency, rate, or extent of toll-like receptor 9 signaling pathway. |
positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
positive regulation of tumor necrosis factor production | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production. |
positive regulation of type II interferon production | Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. |
regulation of B cell differentiation | Any process that modulates the frequency, rate or extent of B cell differentiation. |
regulation of dendritic cell cytokine production | Any process that modulates the frequency, rate, or extent of dendritic cell cytokine production. |
regulation of protein phosphorylation | Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein. |
regulation of toll-like receptor 9 signaling pathway | Any process that modulates the frequency, rate, or extent of toll-like receptor 9 signaling pathway. |
toll-like receptor 9 signaling pathway | The series of molecular signals initiated by a ligand binding to the endolysosomal toll-like receptor 9. |
toll-like receptor signaling pathway | The series of molecular signals initiated by a ligand binding to a toll-like receptor of a target cell. Toll-like receptors directly bind pattern motifs from a variety of microbial sources to initiate an innate immune response. |
11 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q5I2M5 | TLR9 | Toll-like receptor 9 | Bos taurus (Bovine) | SS |
Q5I2M7 | TLR9 | Toll-like receptor 9 | Felis catus (Cat) (Felis silvestris catus) | SS |
Q5I2M8 | TLR9 | Toll-like receptor 9 | Canis lupus familiaris (Dog) (Canis familiaris) | SS |
P08953 | Tl | Protein toll | Drosophila melanogaster (Fruit fly) | PR |
Q2EEY0 | TLR9 | Toll-like receptor 9 | Equus caballus (Horse) | SS |
Q9NR97 | TLR8 | Toll-like receptor 8 | Homo sapiens (Human) | EV |
Q9NYK1 | TLR7 | Toll-like receptor 7 | Homo sapiens (Human) | EV |
P58681 | Tlr7 | Toll-like receptor 7 | Mus musculus (Mouse) | SS |
Q9EQU3 | Tlr9 | Toll-like receptor 9 | Mus musculus (Mouse) | SS |
Q5I2M3 | TLR9 | Toll-like receptor 9 | Sus scrofa (Pig) | SS |
A5H2Z9 | Tlr7 | Toll-like receptor 7 | Rattus norvegicus (Rat) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MGFCRSALHP | LSLLVQAIML | AMTLALGTLP | AFLPCELQPH | GLVNCNWLFL | KSVPHFSMAA |
70 | 80 | 90 | 100 | 110 | 120 |
PRGNVTSLSL | SSNRIHHLHD | SDFAHLPSLR | HLNLKWNCPP | VGLSPMHFPC | HMTIEPSTFL |
130 | 140 | 150 | 160 | 170 | 180 |
AVPTLEELNL | SYNNIMTVPA | LPKSLISLSL | SHTNILMLDS | ASLAGLHALR | FLFMDGNCYY |
190 | 200 | 210 | 220 | 230 | 240 |
KNPCRQALEV | APGALLGLGN | LTHLSLKYNN | LTVVPRNLPS | SLEYLLLSYN | RIVKLAPEDL |
250 | 260 | 270 | 280 | 290 | 300 |
ANLTALRVLD | VGGNCRRCDH | APNPCMECPR | HFPQLHPDTF | SHLSRLEGLV | LKDSSLSWLN |
310 | 320 | 330 | 340 | 350 | 360 |
ASWFRGLGNL | RVLDLSENFL | YKCITKTKAF | QGLTQLRKLN | LSFNYQKRVS | FAHLSLAPSF |
370 | 380 | 390 | 400 | 410 | 420 |
GSLVALKELD | MHGIFFRSLD | ETTLRPLARL | PMLQTLRLQM | NFINQAQLGI | FRAFPGLRYV |
430 | 440 | 450 | 460 | 470 | 480 |
DLSDNRISGA | SELTATMGEA | DGGEKVWLQP | GDLAPAPVDT | PSSEDFRPNC | STLNFTLDLS |
490 | 500 | 510 | 520 | 530 | 540 |
RNNLVTVQPE | MFAQLSHLQC | LRLSHNCISQ | AVNGSQFLPL | TGLQVLDLSH | NKLDLYHEHS |
550 | 560 | 570 | 580 | 590 | 600 |
FTELPRLEAL | DLSYNSQPFG | MQGVGHNFSF | VAHLRTLRHL | SLAHNNIHSQ | VSQQLCSTSL |
610 | 620 | 630 | 640 | 650 | 660 |
RALDFSGNAL | GHMWAEGDLY | LHFFQGLSGL | IWLDLSQNRL | HTLLPQTLRN | LPKSLQVLRL |
670 | 680 | 690 | 700 | 710 | 720 |
RDNYLAFFKW | WSLHFLPKLE | VLDLAGNQLK | ALTNGSLPAG | TRLRRLDVSC | NSISFVAPGF |
730 | 740 | 750 | 760 | 770 | 780 |
FSKAKELREL | NLSANALKTV | DHSWFGPLAS | ALQILDVSAN | PLHCACGAAF | MDFLLEVQAA |
790 | 800 | 810 | 820 | 830 | 840 |
VPGLPSRVKC | GSPGQLQGLS | IFAQDLRLCL | DEALSWDCFA | LSLLAVALGL | GVPMLHHLCG |
850 | 860 | 870 | 880 | 890 | 900 |
WDLWYCFHLC | LAWLPWRGRQ | SGRDEDALPY | DAFVVFDKTQ | SAVADWVYNE | LRGQLEECRG |
910 | 920 | 930 | 940 | 950 | 960 |
RWALRLCLEE | RDWLPGKTLF | ENLWASVYGS | RKTLFVLAHT | DRVSGLLRAS | FLLAQQRLLE |
970 | 980 | 990 | 1000 | 1010 | 1020 |
DRKDVVVLVI | LSPDGRRSRY | VRLRQRLCRQ | SVLLWPHQPS | GQRSFWAQLG | MALTRDNHHF |
1030 | |||||
YNRNFCQGPT | AE |