Q9NQ86
PR
Gene name |
TRIM36 (RBCC728, RNF98) |
Protein name |
E3 ubiquitin-protein ligase TRIM36 |
Names |
RING finger protein 98, RING-type E3 ubiquitin transferase TRIM36, Tripartite motif-containing protein 36, Zinc-binding protein Rbcc728 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55521 |
EC number |
2.3.2.27: Aminoacyltransferases |
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
2 structures for Q9NQ86
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7QS4 | X-ray | 225 A | A/B/C/D | 507-728 | PDB |
| AF-Q9NQ86-F1 | Predicted | AlphaFoldDB |
640 variants for Q9NQ86
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3373381 rs773607884 RCV000496691 |
508 | P>T | Anencephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_079581 | 518 | D>N | ANPH1; decreases protein stability; leads to microtubules disruption; exhibits multipolar spindles; exhibits abnormal cytokinesis [UniProt] | Yes | UniProt |
|
CA360651867 rs1307102082 |
2 | S>* | No |
ClinGen TOPMed |
|
|
CA360651865 rs1307102082 |
2 | S>L | No |
ClinGen TOPMed |
|
|
rs777715727 CA3373895 |
3 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360651864 rs777715727 |
3 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125086405 rs896881579 |
4 | S>C | No |
ClinGen Ensembl |
|
|
CA3373894 rs757833675 |
5 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA360651843 rs1242363435 |
6 | E>G | No |
ClinGen gnomAD |
|
|
rs545594818 CA3373893 |
7 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1036748327 CA125086400 |
11 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 11 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360651800 rs1313876952 |
12 | Y>C | No |
ClinGen gnomAD |
|
|
CA125086397 rs943662645 |
12 | Y>H | No |
ClinGen gnomAD |
|
|
rs759181130 CA3373891 |
13 | I>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360651788 rs1362335331 |
14 | M>V | No |
ClinGen gnomAD |
|
|
rs1348547134 CA360651780 |
15 | E>K | No |
ClinGen gnomAD |
|
|
CA3373888 rs761145898 |
17 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3373889 rs766902062 |
17 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360651759 rs1312350795 |
18 | A>P | No |
ClinGen gnomAD |
|
|
rs148537675 CA3373887 |
20 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360650683 rs1423926358 |
23 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1172323811 CA360650671 |
24 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs551814462 CA3373751 |
25 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360650663 rs1254838256 |
26 | N>H | No |
ClinGen gnomAD |
|
|
CA3373750 rs151147288 |
26 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360650648 rs111309779 |
28 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3373747 rs111309779 |
28 | E>K | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1429418476 CA360650627 |
31 | L>F | No |
ClinGen gnomAD |
|
|
rs755112868 CA125077679 |
31 | L>P | No |
ClinGen Ensembl |
|
|
CA3373745 rs745955741 |
32 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360650605 rs1436597329 |
34 | P>Q | No |
ClinGen TOPMed |
|
|
rs1220673625 CA360650600 |
35 | A>E | No |
ClinGen gnomAD |
|
|
CA3373744 rs781458564 |
35 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 36 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1432584 COSM1432583 CA3373741 rs778169722 |
38 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3373739 rs753593534 |
41 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360650549 rs1401444683 |
42 | H>Q | No |
ClinGen gnomAD |
|
|
rs866963411 CA125077657 |
43 | P>S | No |
ClinGen Ensembl |
|
|
CA125077661 rs866963411 |
43 | P>T | No |
ClinGen Ensembl |
|
|
CA3373737 rs756073282 |
47 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430123509 CA360650511 |
49 | Q>K | No |
ClinGen TOPMed |
|
|
CA360650501 rs1164868243 |
50 | H>Y | No |
ClinGen gnomAD |
|
|
CA360650493 rs1394162801 |
51 | S>G | No |
ClinGen TOPMed |
|
|
CA360650492 rs1409295976 |
51 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3373735 rs538467147 |
52 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 53 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360650473 rs1177886834 |
54 | H>N | No |
ClinGen gnomAD |
|
|
rs370120655 CA125077647 |
55 | K>R | No |
ClinGen ESP TOPMed |
|
|
rs1239763276 CA360650454 |
56 | C>F | No |
ClinGen gnomAD |
|
|
rs761336358 CA3373734 |
56 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs763748140 CA3373732 |
57 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373733 rs751144486 |
57 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1222430709 CA360650427 |
60 | L>P | No |
ClinGen gnomAD |
|
|
CA125077629 rs940299082 |
61 | L>P | No |
ClinGen Ensembl |
|
|
CA125077613 rs113612537 |
63 | T>A | No |
ClinGen Ensembl |
|
|
CA3373727 rs760007138 |
63 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA360650410 rs1311909616 |
64 | L>F | No |
ClinGen gnomAD |
|
|
CA360650399 rs1293700578 |
65 | D>G | No |
ClinGen gnomAD |
|
|
rs141189315 CA3373724 |
65 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3373725 rs141189315 |
65 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3373723 rs765756286 |
66 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs894385268 CA125077584 |
67 | S>* | No |
ClinGen TOPMed |
|
|
CA360650377 rs1358036004 |
67 | S>A | No |
ClinGen gnomAD |
|
|
CA360650358 rs1469396255 |
68 | F>L | No |
ClinGen TOPMed |
|
|
CA125077581 rs111422931 |
69 | N>D | No |
ClinGen Ensembl |
|
|
rs139866682 CA3373721 |
69 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200423868 CA3373722 |
69 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200423868 CA360650352 |
69 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3373719 rs267600321 |
70 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA3373718 rs750313051 |
74 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA360650301 rs1196502562 |
74 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA360650290 rs1194966694 |
75 | N>D | No |
ClinGen TOPMed |
|
|
rs1210629789 CA360650287 |
75 | N>S | No |
ClinGen gnomAD |
|
|
CA360650278 rs1283953561 |
76 | S>F | No |
ClinGen gnomAD |
|
|
rs756697377 CA3373716 |
76 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3373715 rs751126201 |
77 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1027348285 CA125077545 |
78 | Q>R | No |
ClinGen TOPMed |
|
|
rs758026590 CA3373713 |
80 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs765467230 CA3373711 |
82 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765467230 CA3373712 |
82 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs957625882 CA360650206 |
82 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM420445 rs957625882 CA125077534 |
82 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1337864348 CA360650200 |
83 | L>F | No |
ClinGen gnomAD |
|
|
rs760826625 CA3373707 |
84 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767008678 COSM228983 CA3373708 COSM1696055 |
84 | R>W | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs773496325 CA3373706 |
85 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs148221653 CA360650186 |
85 | L>H | No |
ClinGen ESP gnomAD |
|
|
rs148221653 CA125077526 |
85 | L>P | No |
ClinGen ESP gnomAD |
|
|
rs772306724 CA3373705 |
86 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3373704 rs748369140 |
88 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs143006774 CA3373703 |
89 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3373701 rs745675060 |
90 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373702 rs769438235 |
90 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs781092379 CA3373700 |
91 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs761536226 CA3373698 |
95 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777193295 CA360650088 |
95 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM201693 rs777193295 COSM1594741 CA3373697 |
95 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1256952260 CA360650067 |
98 | R>G | No |
ClinGen gnomAD |
|
|
CA360650049 rs1315699821 |
100 | G>R | No |
ClinGen gnomAD |
|
|
CA360649408 rs1179665191 |
103 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3373672 rs750856795 |
103 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360649409 rs1179665191 |
103 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs768074666 CA3373671 |
105 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA360649382 rs1451725266 |
107 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3373670 rs761783202 |
108 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373668 rs764268253 |
110 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360649361 rs1286590706 |
111 | T>A | No |
ClinGen gnomAD |
|
|
CA360649338 rs200194772 |
114 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3373666 rs200194772 |
114 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360649340 rs1480925074 |
114 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1561432584 CA360649332 |
115 | C>F | No |
ClinGen Ensembl |
|
|
rs781606974 CA3373665 |
120 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373662 rs772108141 |
121 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs772962634 CA3373663 |
121 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs772962634 CA3373664 |
121 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs768425033 CA125068033 |
123 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 123 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200585701 CA3373660 |
125 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748901158 CA3373658 |
126 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs779884336 CA3373657 |
126 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748901158 CA3373659 |
126 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA360649258 rs1171694342 |
127 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756481498 CA3373656 |
129 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA360649238 rs1190907250 |
130 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1043868767 CA125068020 |
130 | N>S | No |
ClinGen gnomAD |
|
|
rs559713922 CA3373654 |
131 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559713922 CA3373652 |
131 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559713922 CA3373653 |
131 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3373650 rs764111507 |
132 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373648 rs200920925 COSM357619 |
134 | R>* | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs760371347 CA3373646 |
136 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs139015715 CA3373645 |
136 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3373644 rs771876713 |
137 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA360649199 rs1398258973 |
137 | T>I | No |
ClinGen gnomAD |
|
|
rs761862432 CA3373643 |
140 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3373642 rs774456884 |
140 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360649141 rs1202520012 |
146 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA125068006 rs892158205 |
146 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs748813217 CA3373640 |
147 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373639 rs558901169 |
148 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360649126 rs1168058554 |
149 | A>T | No |
ClinGen gnomAD |
|
|
rs1477238117 CA360649120 |
150 | R>G | No |
ClinGen gnomAD |
|
|
CA360649112 rs1423709710 |
151 | A>P | No |
ClinGen gnomAD |
|
|
CA360649108 rs1188282614 |
151 | A>V | No |
ClinGen gnomAD |
|
|
rs865774967 CA125068001 |
152 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 153 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200284331 CA125067999 |
153 | T>P | No |
ClinGen gnomAD |
|
|
rs1056713297 CA125067994 |
154 | A>T | No |
ClinGen Ensembl |
|
|
CA125067992 rs760345878 |
154 | A>V | No |
ClinGen Ensembl |
|
|
CA360649092 rs1236775309 |
155 | I>V | No |
ClinGen gnomAD |
|
|
CA360649082 rs1554063145 |
156 | M>T | No |
ClinGen Ensembl |
|
|
CA360649086 rs1580669982 |
156 | M>V | No |
ClinGen Ensembl |
|
|
rs746186153 CA3373637 |
159 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480328684 CA360649049 |
160 | C>W | No |
ClinGen TOPMed |
|
|
rs1265270557 CA360649026 |
164 | P>S | No |
ClinGen gnomAD |
|
|
rs781653960 CA3373636 |
165 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs576690291 CA125067983 |
165 | Q>R | No |
ClinGen 1000Genomes |
|
|
CA360649004 rs1168907385 |
167 | S>C | No |
ClinGen TOPMed |
|
|
CA3373635 rs201872951 |
168 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201162913 CA3373634 |
168 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360648987 rs778256210 |
170 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778256210 CA3373633 |
170 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 172 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377636968 CA360648973 |
172 | M>L | No |
ClinGen gnomAD |
|
|
rs1377636968 CA360648974 |
172 | M>V | No |
ClinGen gnomAD |
|
|
CA3373632 rs758414379 |
174 | C>Y | No |
ClinGen ExAC TOPMed |
|
|
CA3373631 rs752829981 |
175 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1453890126 CA360648943 |
176 | A>T | No |
ClinGen gnomAD |
|
|
rs755270127 CA3373629 |
177 | S>N | No |
ClinGen ExAC |
|
|
CA3373630 rs765442498 |
177 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1561432234 CA360648912 |
180 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 181 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354690937 CA360648865 |
186 | H>R | No |
ClinGen gnomAD |
|
|
rs761548160 CA3373626 |
190 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3373625 rs376386935 |
192 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA360648826 rs1421489887 |
192 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1184093537 CA360648791 |
197 | E>K | No |
ClinGen gnomAD |
|
|
CA360648775 rs1456611803 |
199 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA360648774 rs1456611803 |
199 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360648763 rs1236122114 |
201 | P>T | No |
ClinGen gnomAD |
|
|
rs1197057591 CA360648756 |
202 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1457487142 CA360648750 |
203 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 204 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360648741 rs1431156124 |
204 | N>S | No |
ClinGen TOPMed |
|
|
CA360648721 rs1206756665 |
207 | P>T | No |
ClinGen gnomAD |
|
|
rs1043472448 CA125067347 |
209 | I>T | No |
ClinGen TOPMed |
|
|
CA125067345 rs950199561 |
210 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360648679 rs1303234815 |
211 | M>I | No |
ClinGen gnomAD |
|
|
CA3373610 rs148681824 |
211 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs991605101 CA125067338 |
214 | E>D | No |
ClinGen Ensembl |
|
|
CA3373608 rs751460799 |
214 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA360648654 rs1580665608 |
215 | H>Y | No |
ClinGen Ensembl |
|
|
CA3373607 rs764090439 |
217 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs150041010 CA125067334 |
218 | E>G | No |
ClinGen ESP TOPMed |
|
|
rs770592136 CA3373606 |
218 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs892642787 CA125067332 |
219 | R>G | No |
ClinGen TOPMed |
|
|
CA360648624 rs1365312434 |
219 | R>S | No |
ClinGen gnomAD |
|
|
rs1052649261 CA125067330 |
221 | N>S | No |
ClinGen TOPMed |
|
|
rs1431666907 CA360648602 |
222 | M>I | No |
ClinGen gnomAD |
|
|
rs1458357741 CA360648584 |
225 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 229 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360648546 rs1317965863 |
230 | P>A | No |
ClinGen TOPMed |
|
|
rs1554062716 CA360648540 |
231 | V>F | No |
ClinGen Ensembl |
|
|
rs1205784361 CA360648522 |
233 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1205784361 CA360648523 |
233 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs776287973 CA360648498 |
237 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373599 rs201642102 |
238 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360648479 rs1311263933 |
240 | N>D | No |
ClinGen gnomAD |
|
|
CA360648457 rs1288898763 |
243 | N>D | No |
ClinGen TOPMed |
|
|
CA125067315 rs762832242 |
243 | N>K | No |
ClinGen Ensembl |
|
|
CA3373598 rs775441121 |
245 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373596 rs560745353 |
245 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3373597 rs560745353 |
245 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360648443 rs775441121 |
245 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360648436 rs1297568678 |
246 | V>A | No |
ClinGen gnomAD |
|
|
CA360648432 rs1386966099 |
247 | T>S | No |
ClinGen gnomAD |
|
|
CA3373594 rs187190901 |
248 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749345057 CA3373593 |
248 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780312813 CA3373592 |
249 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201683075 CA125067301 |
250 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs201683075 CA3373591 |
250 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1421552877 CA360648409 |
251 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1421552877 CA360648410 |
251 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777659769 CA3373589 |
252 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs769758740 CA125067296 |
253 | Y>C | No |
ClinGen Ensembl |
|
|
CA360648389 rs1187747863 |
254 | K>E | No |
ClinGen TOPMed |
|
|
rs1264403176 CA360648377 |
255 | T>I | No |
ClinGen gnomAD |
|
|
CA360648371 rs1580665277 |
256 | L>F | No |
ClinGen Ensembl |
|
|
CA3373588 rs564451446 |
257 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360648341 rs1398712027 |
259 | K>E | No |
ClinGen gnomAD |
|
|
CA360648338 rs1162047776 |
259 | K>R | No |
ClinGen gnomAD |
|
|
rs61734288 CA3373560 |
261 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3373559 rs769178129 |
262 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs992536472 CA125066405 |
264 | I>T | No |
ClinGen TOPMed |
|
|
rs1231995413 CA360648307 |
264 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360648298 rs1182059028 |
265 | D>G | No |
ClinGen gnomAD |
|
|
CA360648287 rs1439102128 |
266 | Y>* | No |
ClinGen gnomAD |
|
|
CA125066402 COSM1664683 rs960211533 COSM1664682 |
267 | L>F | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs763317109 CA3373558 |
268 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3373556 rs769924762 |
269 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs745955084 CA3373555 |
271 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA360648239 rs1238541412 |
274 | V>M | No |
ClinGen TOPMed |
|
|
rs771346151 CA3373553 |
276 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778620454 CA3373551 |
278 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs749142658 CA360648175 |
283 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3373550 rs754827546 |
283 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs749142658 CA3373549 |
283 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1580658530 CA360648148 |
287 | E>K | No |
ClinGen Ensembl |
|
|
CA3373532 rs768269211 |
291 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1190793949 CA360648085 |
294 | R>G | No |
ClinGen gnomAD |
|
|
CA360648080 rs779957274 |
294 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs745354621 CA3373528 |
295 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745354621 CA3373529 |
295 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373527 rs780732526 |
297 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1441864533 CA360648057 |
298 | E>A | No |
ClinGen gnomAD |
|
|
rs756820112 CA3373526 |
298 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1261557304 CA360648046 |
300 | I>V | No |
ClinGen gnomAD |
|
|
CA125065146 rs943342786 |
301 | T>I | No |
ClinGen Ensembl |
|
|
CA3373524 rs368588034 |
302 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3373523 rs758672755 |
303 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559702650 CA3373522 |
306 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3373521 rs375756908 |
309 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360647977 rs1433377925 |
310 | L>V | No |
ClinGen gnomAD |
|
|
CA360647955 rs1335740829 |
313 | R>K | No |
ClinGen gnomAD |
|
|
CA3373519 rs552461507 |
315 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1420192098 CA360647911 |
319 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs371821661 CA3373516 |
321 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3373515 rs773250716 |
322 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA125065112 rs367552206 |
323 | S>Y | No |
ClinGen ESP TOPMed |
|
|
CA3373514 rs772396573 |
326 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA360647850 rs1561424475 |
329 | L>S | No |
ClinGen Ensembl |
|
|
CA3373512 rs775308222 |
330 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA360647842 rs1265174696 |
330 | D>G | No |
ClinGen gnomAD |
|
|
CA125065096 rs532352888 |
331 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3373510 rs745759213 |
331 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532352888 CA3373511 |
331 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360647838 rs1213353122 |
331 | K>T | No |
ClinGen gnomAD |
|
|
rs925240475 CA125065089 |
333 | Q>H | No |
ClinGen gnomAD |
|
|
CA3373509 rs374325662 |
334 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1451566358 CA360647805 |
336 | M>V | No |
ClinGen TOPMed |
|
|
rs1453773536 CA360647797 |
337 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 338 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296063866 CA360647767 |
340 | Q>H | No |
ClinGen gnomAD |
|
|
CA125065081 rs969014028 |
344 | E>Q | No |
ClinGen gnomAD |
|
|
rs1172532200 CA360647736 |
345 | N>I | No |
ClinGen gnomAD |
|
|
CA3373508 rs770284691 |
346 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs777285356 CA3373506 |
346 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs370561941 CA3373507 |
346 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360647730 rs370561941 |
346 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1361445642 CA360647723 |
347 | G>V | No |
ClinGen TOPMed |
|
|
CA125065063 rs913159718 |
348 | L>P | No |
ClinGen Ensembl |
|
|
CA360647696 rs753087793 |
352 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3373504 rs753087793 |
352 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3373503 rs140760667 |
353 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 354 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206643621 CA360647672 |
355 | V>A | No |
ClinGen gnomAD |
|
|
CA125065037 rs113012392 |
359 | T>A | No |
ClinGen Ensembl |
|
|
CA360647636 rs1357956166 |
361 | Q>E | No |
ClinGen gnomAD |
|
|
rs1353916607 CA360647626 |
362 | S>F | No |
ClinGen TOPMed |
|
|
rs374359652 CA125065023 |
365 | V>A | No |
ClinGen ESP TOPMed |
|
|
rs1362017664 CA360647605 |
365 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360647600 rs1359801715 |
366 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1304495487 CA360647589 |
367 | T>I | No |
ClinGen gnomAD |
|
|
rs1402496501 CA360647549 |
373 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3373476 rs767587520 |
375 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs757362609 CA3373475 |
377 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA360647500 rs1203582578 |
379 | T>A | No |
ClinGen gnomAD |
|
|
rs1479532339 CA360647493 |
380 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs367925755 CA125064857 |
380 | E>A | No |
ClinGen ESP TOPMed |
|
|
CA360647484 rs764353828 |
381 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764353828 CA3373473 |
381 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373472 rs759318836 |
383 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776528911 CA3373471 |
384 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3373470 rs766204602 |
384 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3373469 rs760609483 |
384 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1580650221 CA360647463 |
385 | F>L | No |
ClinGen Ensembl |
|
|
rs773052655 CA3373468 |
386 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1283368860 CA360647442 |
388 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360647444 rs1283368860 |
388 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1224752363 CA360647436 |
389 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 389 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs898285296 CA125064821 |
391 | T>A | No |
ClinGen TOPMed |
|
|
CA125064818 rs1036705018 |
392 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747676288 CA3373466 |
394 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1015997660 CA125064807 |
394 | E>K | No |
ClinGen gnomAD |
|
|
rs1386856467 CA360647396 |
395 | D>G | No |
ClinGen gnomAD |
|
|
CA3373465 rs774133546 |
395 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575038084 CA3373464 |
396 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373463 rs749643112 |
400 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA125064784 rs1004339989 |
402 | K>R | No |
ClinGen TOPMed |
|
|
CA360647347 rs1580650087 |
403 | Q>E | No |
ClinGen Ensembl |
|
|
rs891270382 CA125064783 |
403 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA125064782 rs1006282540 |
404 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA360647338 rs1371887015 |
404 | T>I | No |
ClinGen gnomAD |
|
|
CA360647341 rs1006282540 |
404 | T>P | No |
ClinGen gnomAD |
|
|
CA360647339 rs1371887015 |
404 | T>R | No |
ClinGen gnomAD |
|
|
CA3373461 rs780801408 |
405 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746348827 CA3373460 |
406 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA125064775 rs868731790 |
407 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs868731790 CA360647323 |
407 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA125064772 rs754838922 |
410 | L>V | No |
ClinGen TOPMed |
|
|
rs200727637 CA3373458 |
412 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3373457 rs751700968 |
415 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1481725486 CA360647235 |
418 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360647230 rs1201228593 |
419 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs147215007 CA125063265 CA360647232 |
419 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147215007 CA3373434 |
419 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360647219 rs1165299557 |
421 | E>G | No |
ClinGen gnomAD |
|
|
CA3373433 rs779017179 |
421 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3373431 rs145278757 |
423 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs893227152 CA125063257 |
424 | E>Q | No |
ClinGen Ensembl |
|
|
CA360647191 rs1019627362 |
425 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA125063237 rs1019627362 |
425 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767531964 CA3373430 |
426 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA360647182 rs1469396704 |
426 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA360647184 rs1221634044 |
426 | Q>R | No |
ClinGen gnomAD |
|
|
rs761893965 CA3373429 |
427 | S>I | No |
ClinGen ExAC gnomAD |
|
|
VAR_023197 CA3373428 rs79290430 |
428 | K>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA360647164 rs1468218732 COSM1432569 COSM1432570 |
429 | V>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs763661147 COSM735014 CA360647165 |
429 | V>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs763661147 CA3373427 |
429 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279145734 CA360647157 |
430 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 431 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3373425 rs775191611 |
434 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373424 rs192466114 |
436 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1375065116 CA360647104 |
437 | W>C | No |
ClinGen gnomAD |
|
|
CA360647109 rs1325966882 |
437 | W>G | No |
ClinGen gnomAD |
|
|
CA360647100 rs1405486508 |
438 | H>Y | No |
ClinGen TOPMed |
|
|
rs775111109 CA125063228 |
439 | H>D | No |
ClinGen TOPMed |
|
|
CA360647091 rs1399276332 |
439 | H>R | No |
ClinGen gnomAD |
|
|
rs1042320459 CA125063227 |
440 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1158769502 CA360647076 |
441 | E>D | No |
ClinGen gnomAD |
|
|
CA360647071 rs372440600 |
442 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3373422 rs372440600 |
442 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370063489 CA3373421 |
443 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 444 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360647051 rs1197986612 |
445 | A>P | No |
ClinGen gnomAD |
|
|
CA3373417 rs748234511 |
446 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373420 rs747473260 |
446 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3373419 rs747473260 |
446 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3373418 rs778256280 |
446 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1446181426 COSM1432566 COSM1432565 CA360647039 |
447 | S>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3373415 rs755197593 |
449 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373414 rs755197593 |
449 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373413 rs750211884 |
452 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 452 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757151478 CA3373411 |
453 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781088536 CA3373412 |
453 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125063178 rs771742841 |
455 | I>V | No |
ClinGen gnomAD |
|
|
CA360646983 rs1277083590 |
456 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1326200311 CA360646978 |
456 | N>K | No |
ClinGen gnomAD |
|
|
rs17137481 VAR_023198 CA3373410 |
456 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs17137481 CA360646981 |
456 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA125063165 rs919701098 |
458 | D>G | No |
ClinGen gnomAD |
|
|
CA3373409 rs375044728 |
458 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1045958929 CA125063155 |
459 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1045958929 CA360646961 |
459 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA360646964 rs1403375201 |
459 | D>N | No |
ClinGen gnomAD |
|
|
CA360646953 COSM1645077 rs1427233083 COSM1645078 |
460 | E>G | NS [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs762515983 CA3373408 |
460 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3373407 rs752184857 |
462 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA125063130 rs113814688 |
463 | W>R | No |
ClinGen Ensembl |
|
|
CA3373406 rs200788131 |
464 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1198542665 CA360646924 |
464 | N>S | No |
ClinGen TOPMed |
|
|
rs776294473 CA3373403 |
468 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs961371828 CA125063109 |
469 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs149300775 CA360646883 |
470 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3373401 rs149300775 |
470 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138446043 CA125063107 |
472 | S>N | No |
ClinGen ESP |
|
|
CA360646868 rs1394598978 |
473 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1213322965 CA360646862 |
473 | K>N | No |
ClinGen gnomAD |
|
|
CA3373400 rs150549112 |
474 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA125063096 rs371244620 |
476 | Q>* | No |
ClinGen ESP TOPMed |
|
|
rs955610846 CA125063089 |
477 | D>G | No |
ClinGen Ensembl |
|
|
CA360646832 rs1298819469 |
478 | L>V | No |
ClinGen gnomAD |
|
|
rs1380165741 CA360646826 |
479 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs142331557 CA3373399 |
480 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360646809 rs1448185480 |
481 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA360646808 rs1283154351 |
481 | S>N | No |
ClinGen TOPMed |
|
|
rs1341698587 CA360646794 |
483 | T>A | No |
ClinGen TOPMed |
|
|
rs1228891234 CA360646778 |
485 | A>D | No |
ClinGen TOPMed |
|
|
CA360646773 rs1409313730 |
486 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 490 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3373396 rs778910639 |
490 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs997435062 CA125063043 |
491 | Y>* | No |
ClinGen Ensembl |
|
|
CA3373395 rs548155136 |
491 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749484578 CA3373393 |
492 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs780432367 CA3373392 |
493 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3373391 rs757063567 |
493 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3373389 rs777817315 |
495 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3373390 rs368091324 |
495 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3373388 rs758314594 |
496 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs764610992 CA3373386 |
497 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3373385 rs754519246 |
498 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA360646689 rs571903822 |
499 | C>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1380814037 CA360646690 |
499 | C>S | No |
ClinGen gnomAD |
|
|
CA125062989 rs903158401 |
500 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 501 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 503 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371459368 CA360646650 |
505 | L>I | No |
ClinGen TOPMed |
|
|
rs1371459368 CA360646651 |
505 | L>V | No |
ClinGen TOPMed |
|
|
CA125062984 rs1007729670 |
507 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3373380 rs768048037 |
508 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1367713444 CA360646626 |
509 | P>S | No |
ClinGen TOPMed |
|
|
rs774956634 CA3373378 |
511 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763988637 CA125062955 |
512 | V>I | No |
ClinGen Ensembl |
|
|
rs982974411 CA125061123 |
516 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1468266065 CA360646559 |
517 | F>S | No |
ClinGen gnomAD |
|
|
rs778710507 CA3373351 |
519 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1461073825 CA360646534 |
520 | K>I | No |
ClinGen TOPMed |
|
|
rs145256700 CA3373350 |
520 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 522 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3373349 rs748775331 |
522 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375147618 CA3373347 |
523 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360646512 rs1429076894 |
524 | N>D | No |
ClinGen TOPMed |
|
|
rs746132437 CA3373346 |
527 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA125061073 rs1029933908 |
527 | H>Y | No |
ClinGen TOPMed |
|
|
CA360646465 rs1380612894 |
531 | N>D | No |
ClinGen TOPMed |
|
|
rs1343648907 CA360646450 |
533 | K>E | No |
ClinGen gnomAD |
|
|
CA3373345 rs199588863 |
533 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360646444 rs1235323317 |
534 | R>G | No |
ClinGen gnomAD |
|
|
CA360646431 rs1305636301 |
535 | D>E | No |
ClinGen gnomAD |
|
|
CA3373344 rs757552514 |
536 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752032230 CA3373343 |
536 | R>H | Variant assessed as Somatic; 4.629e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360646429 rs757552514 |
536 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287199093 CA360646408 |
539 | S>N | No |
ClinGen gnomAD |
|
|
rs1044258648 CA125061018 |
542 | G>E | No |
ClinGen Ensembl |
|
|
CA360646367 rs1285917536 |
545 | L>F | No |
ClinGen TOPMed |
|
|
CA125061001 rs948443601 |
546 | L>P | No |
ClinGen TOPMed |
|
|
CA360646355 rs1450611700 |
547 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1173161772 CA360646348 |
548 | A>V | No |
ClinGen gnomAD |
|
|
rs964286942 CA125060996 |
549 | A>E | No |
ClinGen TOPMed |
|
|
CA3373341 rs371197925 |
551 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360646323 rs1474925073 COSM3768100 COSM3768099 |
552 | I>M | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA360646314 rs1160109769 |
554 | V>M | No |
ClinGen TOPMed |
|
|
rs552426030 CA3373339 |
556 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776704125 CA3373337 |
557 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360646250 rs1158886839 |
563 | I>V | No |
ClinGen TOPMed |
|
|
CA360646234 rs1479635044 |
565 | G>E | No |
ClinGen gnomAD |
|
|
CA3373334 rs774252020 |
566 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 566 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148167239 CA3373333 |
567 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360646220 rs1344019998 |
567 | T>I | No |
ClinGen gnomAD |
|
|
rs148167239 CA360646223 |
567 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3373330 rs769239119 |
569 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA125060936 rs976296961 |
569 | I>V | No |
ClinGen Ensembl |
|
|
rs745445693 CA3373329 |
570 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3373327 rs756979516 |
571 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1395021658 CA360646196 |
572 | G>R | No |
ClinGen gnomAD |
|
|
CA360646180 rs1307936869 |
574 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA360646172 rs1430864493 |
575 | F>L | No |
ClinGen gnomAD |
|
|
rs944980487 CA125060916 |
576 | W>L | No |
ClinGen Ensembl |
|
|
rs1392411872 CA360646155 |
577 | A>V | No |
ClinGen gnomAD |
|
|
rs758835271 CA3373324 |
578 | F>L | No |
ClinGen ExAC |
|
|
CA3373325 rs778239471 |
578 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs753196036 CA3373323 |
579 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs369438474 CA3373322 |
579 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3373321 rs759529085 |
581 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3373320 rs753990679 |
582 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs753990679 CA360646128 |
582 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs766489068 CA3373319 |
587 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs766991610 CA125060907 |
588 | K>R | No |
ClinGen Ensembl |
|
|
rs760902793 CA3373318 |
589 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 589 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 590 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360646077 rs1222978019 |
590 | G>R | No |
ClinGen TOPMed |
|
|
rs773339163 CA360646067 |
591 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773339163 CA3373317 |
591 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143741495 CA3373315 |
593 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143741495 CA3373314 |
593 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3373316 rs768375712 |
593 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769793465 CA3373313 |
594 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770374685 CA3373311 |
595 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770374685 CA3373310 |
595 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 599 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3373309 rs746602292 |
599 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1580637133 CA360645947 |
600 | W>L | No |
ClinGen Ensembl |
|
|
CA3373308 rs749733979 COSM1651387 COSM1059802 |
602 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3941001 COSM3941000 rs543104439 CA3373307 |
602 | R>H | oesophagus Variant assessed as Somatic; 4.626e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3373306 rs748588535 |
603 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360645894 rs755557677 |
605 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373304 rs755557677 |
605 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373305 rs779531833 |
605 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235399831 CA360645843 |
609 | S>G | No |
ClinGen gnomAD |
|
|
CA3373303 rs754325749 |
610 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1266642039 CA360645152 |
611 | R>K | No |
ClinGen gnomAD |
|
|
CA360646065 rs1372462401 |
611 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3373282 rs369972438 |
612 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3373281 rs767699058 |
614 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436723202 CA360645980 |
617 | G>V | No |
ClinGen gnomAD |
|
|
rs757528872 CA3373280 |
618 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1356926692 CA360645974 |
618 | H>Y | No |
ClinGen gnomAD |
|
|
CA360645911 rs1414986954 |
622 | S>N | No |
ClinGen gnomAD |
|
|
CA3373279 rs751807189 |
623 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3373278 rs765012136 |
624 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430754837 CA360645874 |
625 | A>T | No |
ClinGen TOPMed |
|
|
CA360645858 rs1448620526 |
626 | C>* | No |
ClinGen gnomAD |
|
|
rs759259405 CA3373277 |
626 | C>Y | No |
ClinGen ExAC |
|
|
CA3373276 rs530580192 |
628 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360645833 rs1389846079 |
628 | D>Y | No |
ClinGen gnomAD |
|
|
rs766292516 CA3373275 |
630 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 630 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235815603 CA360645809 |
631 | Q>H | No |
ClinGen gnomAD |
|
|
CA360645815 rs1389012210 |
631 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs760229798 CA3373274 |
632 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3373272 rs771730584 |
634 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA360645789 rs1165065196 |
635 | L>V | No |
ClinGen TOPMed |
|
|
rs201258702 CA125079517 |
636 | V>A | No |
ClinGen Ensembl |
|
|
CA3373271 rs541941798 |
637 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1297968549 CA360645772 |
638 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1457097708 CA360645765 |
639 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 640 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3373270 rs774151976 |
642 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs375330229 CA125079510 |
643 | F>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1376446956 CA360645735 |
643 | F>L | No |
ClinGen gnomAD |
|
|
CA360645732 rs375330229 |
643 | F>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs939233361 CA125079509 |
645 | I>L | No |
ClinGen gnomAD |
|
|
rs1360873220 CA360645718 |
645 | I>T | No |
ClinGen gnomAD |
|
|
CA360645720 rs939233361 |
645 | I>V | No |
ClinGen gnomAD |
|
|
rs1261886385 CA360645708 |
647 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 647 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749674589 CA3373268 |
647 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373267 rs780609315 |
648 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA360645686 rs1380452190 |
650 | T>I | No |
ClinGen TOPMed |
|
|
CA360645689 rs1170180575 |
650 | T>S | No |
ClinGen gnomAD |
|
|
CA3373265 rs572913711 |
651 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770247627 CA3373266 |
651 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3373264 rs781204945 |
652 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA360645668 rs1259112957 |
654 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs757330058 CA3373263 |
656 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs371363704 CA3373262 |
658 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3373261 rs572277959 |
659 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572277959 CA125079492 |
659 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754795320 CA3373260 |
660 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA360645623 rs766317936 |
661 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3373257 rs368817218 |
661 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766317936 CA3373258 |
661 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3373255 rs767069836 |
662 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA360645605 rs761422440 |
664 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3373254 rs761422440 |
664 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360645597 rs1409143186 |
665 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA125079429 rs926567938 |
666 | I>T | No |
ClinGen Ensembl |
|
|
rs1261666241 CA360645581 |
668 | I>F | No |
ClinGen TOPMed |
|
|
rs1261666241 CA360645580 |
668 | I>V | No |
ClinGen TOPMed |
|
|
CA360645556 rs1249946017 |
671 | D>G | No |
ClinGen gnomAD |
|
|
rs774031442 CA360645549 |
672 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA3373253 rs774031442 |
672 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1456167316 CA360645541 |
673 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1456167316 CA360645540 |
673 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs140291457 CA3373252 |
675 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360645529 rs140291457 |
675 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763369412 CA3373251 |
676 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125079413 rs200319112 |
677 | V>I | No |
ClinGen Ensembl |
|
|
CA360645512 rs2974617 |
678 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2974617 VAR_020490 CA3373250 |
678 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA125079399 rs962505285 |
680 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 681 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360645476 rs1184827970 |
682 | M>I | No |
ClinGen TOPMed |
|
|
rs746338867 CA3373248 |
682 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA3373249 rs746338867 |
682 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3373247 rs144749941 |
683 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1382865764 CA360645468 |
684 | Q>E | No |
ClinGen TOPMed |
|
|
rs770979007 CA3373246 |
684 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs201477243 CA3373245 |
685 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184838275 CA360645460 |
685 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778054545 CA360645439 |
687 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs778054545 CA360645438 |
687 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1264557515 CA360645442 |
687 | C>Y | No |
ClinGen gnomAD |
|
|
CA3373243 COSM1059798 COSM1594748 rs142451940 |
688 | L>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA360645428 rs1227198471 |
689 | Y>C | No |
ClinGen gnomAD |
|
|
CA360645427 rs1227198471 |
689 | Y>F | No |
ClinGen gnomAD |
|
|
rs752978474 CA3373242 |
691 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374739733 CA3373241 |
691 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147660217 CA3373240 |
693 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147660217 CA360645404 |
693 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1029311805 CA125079363 |
694 | D>N | No |
ClinGen Ensembl |
|
|
rs1437474838 CA360645390 |
695 | C>G | No |
ClinGen gnomAD |
|
|
CA125079359 rs998298448 |
696 | S>A | No |
ClinGen TOPMed |
|
|
rs145352884 CA3373239 |
697 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396902717 CA360645379 |
697 | H>Y | No |
ClinGen gnomAD |
|
|
rs767609651 CA3373238 |
698 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs761374482 CA3373237 |
699 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA360645317 rs1267893535 |
706 | M>R | No |
ClinGen TOPMed |
|
|
CA3373234 rs762451393 |
707 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs775244570 CA3373233 |
710 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs866641653 CA125079294 |
712 | Q>* | No |
ClinGen Ensembl |
|
|
CA360645266 rs1469557608 |
714 | E>A | No |
ClinGen gnomAD |
|
|
CA3373232 rs150809298 |
716 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1000404331 CA125079291 |
716 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs148672405 CA3373230 |
719 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360645232 rs148672405 |
719 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1481253538 CA360645219 |
721 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs555481580 CA3373228 |
724 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs3749745 RCV000894822 CA3373226 VAR_057221 |
725 | Q>E | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1373518990 CA360645176 |
727 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3373221 rs371758174 |
728 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755949090 CA3373222 |
728 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs755949090 CA3373223 |
728 | M>T | No |
ClinGen ExAC gnomAD |
|
|
COSM735015 rs748279106 CA3373224 |
728 | M>V | lung Variant assessed as Somatic; 9.318e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
1 associated diseases with Q9NQ86
[MIM: 206500]: Anencephaly 1 (ANPH1)
An extreme form of neural tube defect resulting in the absence of brain tissues, and death in utero or perinatally. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed. ANPH1 inheritance is autosomal recessive. {ECO:0000269|PubMed:28087737}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An extreme form of neural tube defect resulting in the absence of brain tissues, and death in utero or perinatally. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed. ANPH1 inheritance is autosomal recessive. {ECO:0000269|PubMed:28087737}. Note=The disease is caused by variants affecting the gene represented in this entry.
14 regional properties for Q9NQ86
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | B-box-type zinc finger | 207 - 249 | IPR000315 |
| domain | Zinc finger, RING-type | 33 - 118 | IPR001841 |
| domain | B30.2/SPRY domain | 495 - 720 | IPR001870 |
| domain | Butyrophylin-like, SPRY domain | 556 - 580 | IPR003879-1 |
| domain | Butyrophylin-like, SPRY domain | 657 - 681 | IPR003879-2 |
| domain | Fibronectin type III | 419 - 510 | IPR003961 |
| domain | COS domain | 356 - 413 | IPR017903 |
| conserved_site | Zinc finger, RING-type, conserved site | 48 - 57 | IPR017907 |
| domain | Zinc finger, RING-type, eukaryotic | 33 - 63 | IPR027370 |
| domain | E3 ubiquitin-protein ligase Trim36, RING finger, HC subclass | 28 - 125 | IPR027726 |
| domain | TRIM36, PRY/SPRY domain | 515 - 718 | IPR035727 |
| domain | Midline-1, COS domain | 359 - 407 | IPR040859 |
| domain | E3 ubiquitin-protein ligase Trim36, B-box-type 2 zinc finger | 210 - 254 | IPR047065 |
| domain | E3 ubiquitin-protein ligase Trim36, B-box-type 1 zinc finger | 151 - 205 | IPR047066 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.27 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| acrosomal vesicle | A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| alpha-tubulin binding | Binding to the microtubule constituent protein alpha-tubulin. |
| ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
| zinc ion binding | Binding to a zinc ion (Zn). |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| acrosome reaction | The discharge, by sperm, of a single, anterior secretory granule following the sperm's attachment to the zona pellucida of the oocyte. The process begins with the fusion of the outer acrosomal membrane with the sperm plasma membrane and ends with the exocytosis of the acrosomal contents into the zona pellucida. |
| mitotic cytokinesis | A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of microtubule cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| spindle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the spindle, the array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during DNA segregation and serves to move the duplicated chromosomes apart. |
46 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5E9G4 | TRIM10 | Tripartite motif-containing protein 10 | Bos taurus (Bovine) | PR |
| Q2T9Z0 | TRIM17 | E3 ubiquitin-protein ligase TRIM17 | Bos taurus (Bovine) | PR |
| E1BJS7 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Bos taurus (Bovine) | PR |
| Q7YRV4 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Bos taurus (Bovine) | PR |
| Q1PRL4 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Gallus gallus (Chicken) | PR |
| Q7YR32 | TRIM10 | Tripartite motif-containing protein 10 | Pan troglodytes (Chimpanzee) | PR |
| O15553 | MEFV | Pyrin | Homo sapiens (Human) | SS |
| Q9H2S5 | RNF39 | RING finger protein 39 | Homo sapiens (Human) | PR |
| P19474 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Homo sapiens (Human) | PR |
| P29590 | PML | Protein PML | Homo sapiens (Human) | PR |
| Q9C029 | TRIM7 | E3 ubiquitin-protein ligase TRIM7 | Homo sapiens (Human) | PR |
| Q86UV6 | TRIM74 | Tripartite motif-containing protein 74 | Homo sapiens (Human) | PR |
| Q9UPQ4 | TRIM35 | E3 ubiquitin-protein ligase TRIM35 | Homo sapiens (Human) | PR |
| Q6ZMU5 | TRIM72 | Tripartite motif-containing protein 72 | Homo sapiens (Human) | PR |
| Q86UV7 | TRIM73 | Tripartite motif-containing protein 73 | Homo sapiens (Human) | PR |
| Q8N9V2 | TRIML1 | Probable E3 ubiquitin-protein ligase TRIML1 | Homo sapiens (Human) | PR |
| Q86XT4 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Homo sapiens (Human) | PR |
| Q5EBN2 | TRIM61 | Putative tripartite motif-containing protein 61 | Homo sapiens (Human) | PR |
| Q9BZY9 | TRIM31 | E3 ubiquitin-protein ligase TRIM31 | Homo sapiens (Human) | PR |
| Q2Q1W2 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Homo sapiens (Human) | PR |
| Q9BTV5 | FSD1 | Fibronectin type III and SPRY domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q9BXM9 | FSD1L | FSD1-like protein | Homo sapiens (Human) | PR |
| Q9UJV3 | MID2 | Probable E3 ubiquitin-protein ligase MID2 | Homo sapiens (Human) | PR |
| Q9WUH5 | Trim10 | Tripartite motif-containing protein 10 | Mus musculus (Mouse) | PR |
| Q8BZT2 | Sh3rf2 | E3 ubiquitin-protein ligase SH3RF2 | Mus musculus (Mouse) | PR |
| Q7TPM3 | Trim17 | E3 ubiquitin-protein ligase TRIM17 | Mus musculus (Mouse) | PR |
| Q1XH17 | Trim72 | Tripartite motif-containing protein 72 | Mus musculus (Mouse) | PR |
| Q60953 | Pml | Protein PML | Mus musculus (Mouse) | PR |
| Q9JJ26 | Mefv | Pyrin | Mus musculus (Mouse) | SS |
| Q99PQ1 | Trim12a | Tripartite motif-containing protein 12A | Mus musculus (Mouse) | PR |
| Q61510 | Trim25 | E3 ubiquitin/ISG15 ligase TRIM25 | Mus musculus (Mouse) | PR |
| Q810I2 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Mus musculus (Mouse) | PR |
| Q1PSW8 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Mus musculus (Mouse) | PR |
| Q3TL54 | Trim43a | Tripartite motif-containing protein 43A | Mus musculus (Mouse) | PR |
| P86449 | Trim43c | Tripartite motif-containing protein 43C | Mus musculus (Mouse) | PR |
| O77666 | TRIM26 | Tripartite motif-containing protein 26 | Sus scrofa (Pig) | PR |
| O19085 | TRIM10 | Tripartite motif-containing protein 10 | Sus scrofa (Pig) | PR |
| Q865W2 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Sus scrofa (Pig) | PR |
| Q920M2 | Rnf39 | RING finger protein 39 | Rattus norvegicus (Rat) | PR |
| Q9JJ25 | Mefv | Pyrin | Rattus norvegicus (Rat) | SS |
| A0JPQ4 | Trim72 | Tripartite motif-containing protein 72 | Rattus norvegicus (Rat) | PR |
| Q810I1 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Rattus norvegicus (Rat) | PR |
| D3ZVM4 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Rattus norvegicus (Rat) | PR |
| F6QEU4 | trim71 | E3 ubiquitin-protein ligase TRIM71 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q640S6 | trim72 | Tripartite motif-containing protein 72 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| E7FAM5 | trim71 | E3 ubiquitin-protein ligase TRIM71 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSESGEMSEF | GYIMELIAKG | KVTIKNIERE | LICPACKELF | THPLILPCQH | SICHKCVKEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLTLDDSFND | VGSDNSNQSS | PRLRLPSPSM | DKIDRINRPG | WKRNSLTPRT | TVFPCPGCEH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DVDLGERGIN | GLFRNFTLET | IVERYRQAAR | AATAIMCDLC | KPPPQESTKS | CMDCSASYCN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ECFKIHHPWG | TIKAQHEYVG | PTTNFRPKIL | MCPEHETERI | NMYCELCRRP | VCHLCKLGGN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HANHRVTTMS | SAYKTLKEKL | SKDIDYLIGK | ESQVKSQISE | LNLLMKETEC | NGERAKEEAI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| THFEKLFEVL | EERKSSVLKA | IDSSKKLRLD | KFQTQMEEYQ | GLLENNGLVG | YAQEVLKETD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QSCFVQTAKQ | LHLRIQKATE | SLKSFRPAAQ | TSFEDYVVNT | SKQTELLGEL | SFFSSGIDVP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EINEEQSKVY | NNALINWHHP | EKDKADSYVL | EYRKINRDDE | MSWNEIEVCG | TSKIIQDLEN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SSTYAFRVRA | YKGSICSPCS | RELILHTPPA | PVFSFLFDEK | CGYNNEHLLL | NLKRDRVESR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AGFNLLLAAE | RIQVGYYTSL | DYIIGDTGIT | KGKHFWAFRV | EPYSYLVKVG | VASSDKLQEW |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LRSPRDAVSP | RYEQDSGHDS | GSEDACFDSS | QPFTLVTIGM | QKFFIPKSPT | SSNEPENRVL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PMPTSIGIFL | DCDKGKVDFY | DMDQMKCLYE | RQVDCSHTLY | PAFALMGSGG | IQLEEPITAK |
| YLEYQEDM |