Q9H583
Gene name |
HEATR1 (BAP28, UTP10) |
Protein name |
HEAT repeat-containing protein 1 |
Names |
Protein BAP28, U3 small nucleolar RNA-associated protein 10 homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55127 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for Q9H583
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7MQ8 | EM | 360 A | LM | 1-2144 | PDB |
| 7MQ9 | EM | 387 A | LM | 1-2144 | PDB |
| 7MQA | EM | 270 A | LM | 1-2144 | PDB |
| AF-Q9H583-F1 | Predicted | AlphaFoldDB |
1731 variants for Q9H583
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA345360971 rs1266969522 |
2 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA345360967 rs1266969522 |
2 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1472664 rs752559522 |
3 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1472663 rs767336669 |
5 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767336669 CA39712899 |
5 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759587486 CA1472662 |
6 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA345360869 rs1326422044 CA345360870 |
7 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA345360812 rs1239162508 |
11 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1472660 rs766048913 |
12 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA1472659 rs762570268 |
12 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA345360790 rs1319785407 |
13 | L>F | No |
ClinGen gnomAD |
|
|
CA345360791 rs1319785407 |
13 | L>V | No |
ClinGen gnomAD |
|
|
CA1472656 rs141053386 |
14 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200735956 CA1472655 |
16 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200735956 CA345360754 |
16 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345360745 rs1160324871 |
17 | D>H | No |
ClinGen gnomAD |
|
|
rs1160324871 CA345360748 |
17 | D>N | No |
ClinGen gnomAD |
|
|
rs1377280217 CA345360708 |
20 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs528420179 CA345360689 |
21 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345360694 rs1470087571 |
21 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA39712858 rs1038573516 |
22 | S>F | No |
ClinGen TOPMed |
|
|
CA1472650 rs749401605 |
23 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA39712853 rs766365098 |
24 | D>H | No |
ClinGen Ensembl |
|
|
CA345360664 COSM1185801 rs766365098 |
24 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs752403855 CA1472647 |
25 | E>G | No |
ClinGen ExAC |
|
|
rs756410208 CA1472648 |
25 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1472645 rs754955094 |
26 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA1472646 rs754955094 |
26 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 27 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1472644 rs751489308 |
28 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1572057871 CA345360566 |
32 | D>A | No |
ClinGen Ensembl |
|
|
CA345360549 rs1432663537 |
33 | P>R | No |
ClinGen gnomAD |
|
|
CA345360556 rs762500785 |
33 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1472642 rs762500785 |
33 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA345360544 rs1346836367 |
34 | K>E | No |
ClinGen gnomAD |
|
|
rs1318896380 CA345360542 |
34 | K>M | No |
ClinGen gnomAD |
|
|
CA1472639 rs764763618 |
36 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs775703547 CA1472637 |
37 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1056443114 CA39712740 |
38 | T>A | No |
ClinGen TOPMed |
|
|
rs939348909 CA39712727 |
39 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1472636 rs772362857 |
41 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449499629 CA345360424 |
43 | T>I | No |
ClinGen TOPMed |
|
|
rs771451183 CA1472633 |
44 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771451183 CA345360421 |
44 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345360383 rs1212442927 |
47 | I>V | No |
ClinGen gnomAD |
|
|
rs769857743 CA1472612 |
49 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1233542834 CA345359745 |
50 | T>I | No |
ClinGen TOPMed |
|
|
rs757814368 CA1472610 |
54 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1472608 rs746765386 |
56 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1416246979 CA345359549 |
57 | G>E | No |
ClinGen gnomAD |
|
|
CA345359519 rs1167823062 |
58 | I>T | No |
ClinGen gnomAD |
|
|
CA1472606 rs758253283 |
59 | D>G | No |
ClinGen ExAC |
|
|
rs780058062 CA1472607 |
59 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA39712125 rs1025640941 |
60 | P>H | No |
ClinGen TOPMed |
|
|
rs1025640941 CA345359458 |
60 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 60 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1472604 rs778718727 |
61 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 62 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481382048 CA345359375 |
64 | Q>E | No |
ClinGen gnomAD |
|
|
CA345359382 rs1481382048 |
64 | Q>K | No |
ClinGen gnomAD |
|
|
rs756750583 CA1472603 |
65 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs753367978 CA1472602 |
66 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1472601 rs755803997 |
67 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs755803997 CA1472600 |
67 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1472599 rs199653340 |
68 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345359227 rs1335520924 |
73 | L>Q | No |
ClinGen gnomAD |
|
|
CA39712084 rs368023463 |
75 | K>E | No |
ClinGen Ensembl |
|
|
rs1222164898 CA345359179 |
76 | T>S | No |
ClinGen gnomAD |
|
|
CA345359150 rs1460626340 |
79 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA345359148 rs773705501 |
79 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM906062 CA1472596 rs773705501 |
79 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA345359130 rs1439318550 |
82 | Q>* | No |
ClinGen TOPMed |
|
|
CA345359129 rs1439318550 |
82 | Q>E | No |
ClinGen TOPMed |
|
|
CA39712071 rs935301093 |
86 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA345359060 rs1462389626 |
87 | N>S | No |
ClinGen gnomAD |
|
|
CA1472593 rs761927377 |
88 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 89 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1472592 rs768993090 |
90 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951440620 CA39712062 |
90 | L>W | No |
ClinGen TOPMed |
|
|
rs372793751 CA345358972 |
94 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372793751 CA1472590 |
94 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345358956 rs1408255734 |
95 | S>A | No |
ClinGen gnomAD |
|
|
CA345358943 rs1190325970 |
95 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345358938 rs1452313605 |
96 | L>V | No |
ClinGen gnomAD |
|
|
rs374661960 CA39712040 |
98 | L>F | No |
ClinGen ESP |
|
| TCGA novel | 99 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771832271 CA1472588 |
99 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1472587 rs745680073 |
102 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 103 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39712029 rs911693962 |
104 | Y>C | No |
ClinGen Ensembl |
|
|
CA39712026 rs1051631805 |
105 | F>L | No |
ClinGen gnomAD |
|
|
CA39712019 rs757191202 |
105 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1472584 rs748767159 |
109 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 111 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233894712 CA345358696 |
111 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 114 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345358622 rs1369090220 |
116 | W>S | No |
ClinGen gnomAD |
|
|
CA345358599 rs1306018489 |
118 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1472583 rs777333597 |
118 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345358600 rs1306018489 |
118 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1173952130 CA345358050 |
121 | F>Y | No |
ClinGen gnomAD |
|
|
rs770898106 CA1472564 |
124 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA345358018 rs1172408251 |
124 | H>Y | No |
ClinGen gnomAD |
|
|
CA39707855 rs1021958237 |
125 | L>H | No |
ClinGen TOPMed |
|
|
rs749283266 CA1472563 |
126 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345357999 rs1572055437 |
126 | Y>H | No |
ClinGen Ensembl |
|
|
rs777703237 CA1472562 |
127 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1472561 rs544530055 |
127 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1472560 rs146181190 |
128 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146181190 CA1472559 |
128 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1472558 rs754640629 |
129 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1472557 rs750792703 |
129 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1472556 rs779199641 |
130 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA39707819 rs775516568 |
130 | S>N | No |
ClinGen Ensembl |
|
|
CA1472554 rs754328458 |
131 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA39707806 rs1033415391 |
132 | I>T | No |
ClinGen TOPMed |
|
|
CA1472552 rs184646465 |
132 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1472551 rs752767682 |
135 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA345357940 rs1393905193 |
136 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1472549 rs759744935 |
138 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 140 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1472548 rs192876952 |
140 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs867330018 CA39707783 |
141 | T>I | No |
ClinGen Ensembl |
|
|
rs1420161475 CA345357902 |
142 | R>G | No |
ClinGen gnomAD |
|
|
rs1572055387 CA345357894 |
143 | I>V | No |
ClinGen Ensembl |
|
|
rs1370970789 CA345357873 |
146 | R>* | No |
ClinGen gnomAD |
|
|
CA1472545 rs775729831 |
146 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345357870 rs1248705746 |
147 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs769748600 CA1472544 |
149 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA345357851 rs1216333595 |
149 | Q>H | No |
ClinGen TOPMed |
|
|
CA345357848 rs1481204799 |
150 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1472543 rs747638987 |
154 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1006848033 CA39707735 |
156 | S>T | No |
ClinGen Ensembl |
|
|
rs768338113 CA1472541 |
157 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39707734 rs953856798 |
157 | K>R | No |
ClinGen gnomAD |
|
|
CA39707720 rs368148863 |
160 | W>C | No |
ClinGen ESP |
|
|
rs1572055350 CA345357750 |
162 | W>* | No |
ClinGen Ensembl |
|
|
CA345357732 rs1330550797 |
164 | L>V | No |
ClinGen gnomAD |
|
|
CA39707713 rs372923233 |
165 | P>T | No |
ClinGen Ensembl |
|
|
rs779759770 CA1472539 |
166 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 167 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345357267 rs1239364868 |
168 | Q>H | No |
ClinGen gnomAD |
|
|
rs1369826717 CA345357243 |
171 | V>M | No |
ClinGen gnomAD |
|
|
rs887049487 CA39706959 |
172 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 173 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317640774 CA345357167 |
175 | K>R | No |
ClinGen gnomAD |
|
|
CA1472520 rs576830922 |
177 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs61375816 CA1472518 RCV000966791 |
179 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs143912188 CA1472519 |
179 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345357084 rs1420498377 |
181 | H>Y | No |
ClinGen gnomAD |
|
|
rs749639043 CA1472516 |
183 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1472515 rs142578249 |
184 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756677371 CA1472514 |
184 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1472513 rs774665306 |
185 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781728054 CA1472512 |
188 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1285698557 CA345356963 |
189 | M>V | No |
ClinGen gnomAD |
|
|
rs1216729630 CA345356911 |
193 | C>G | No |
ClinGen gnomAD |
|
|
CA345356875 rs1338687092 |
195 | L>W | No |
ClinGen TOPMed |
|
|
CA345356871 rs1399502102 |
196 | V>M | No |
ClinGen TOPMed |
|
|
CA345356849 rs1333345182 |
197 | T>R | No |
ClinGen TOPMed |
|
|
rs751689075 CA1472510 |
198 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781509057 CA1472493 |
202 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374840477 CA1472492 |
204 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1416808584 CA345356480 |
206 | Y>* | No |
ClinGen gnomAD |
|
|
CA1472491 rs747034390 |
206 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1197291 CA1472489 rs758481863 |
207 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA345356474 rs758481863 |
207 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573497694 CA1472490 |
207 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA39706476 rs763138915 |
208 | G>C | No |
ClinGen TOPMed |
|
|
CA1472487 rs765469165 |
208 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1172092585 CA345356457 |
209 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 210 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415075805 CA345356426 |
212 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 214 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213066078 CA345356399 |
215 | V>M | No |
ClinGen TOPMed |
|
|
CA345356333 rs1483346033 |
221 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 223 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39706464 rs982146643 |
224 | I>V | No |
ClinGen gnomAD |
|
|
CA1472485 rs201547441 |
226 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1472483 rs760724482 |
227 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1452348478 CA345356250 |
229 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs759130190 CA1472480 |
229 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345356237 rs1279263406 |
231 | A>V | No |
ClinGen gnomAD |
|
|
rs1572054022 CA345356216 |
234 | V>G | No |
ClinGen Ensembl |
|
|
rs769692131 CA1472477 |
234 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 235 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs911096356 CA39706429 |
236 | D>E | No |
ClinGen TOPMed |
|
|
CA345356206 rs1164888810 |
236 | D>G | No |
ClinGen TOPMed |
|
|
CA1472476 rs777098427 |
236 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146667999 CA1472475 |
237 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1166397542 CA345356200 |
237 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs371395131 CA1472473 |
240 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1175167841 CA345356178 |
240 | A>V | No |
ClinGen gnomAD |
|
|
rs1314426953 CA345356172 |
241 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 242 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 244 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1472468 rs375951592 |
245 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143920214 CA345356150 |
245 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375951592 CA39706416 |
245 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143920214 CA1472469 |
245 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143920214 CA1472470 |
245 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375951592 CA345356149 |
245 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777690146 CA1472467 |
246 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 247 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361891390 CA345356093 |
251 | K>I | No |
ClinGen gnomAD |
|
|
rs1240577191 CA345356048 |
258 | R>G | No |
ClinGen TOPMed |
|
|
rs752568839 CA345356042 |
259 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA1472446 rs752568839 |
259 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1472445 rs753064763 |
260 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs755012043 CA1472444 |
261 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1472443 rs547078368 |
262 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1192733099 CA345356015 |
263 | M>I | No |
ClinGen TOPMed |
|
|
rs147463795 CA1472441 |
263 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1427804500 CA345356011 |
264 | I>V | No |
ClinGen gnomAD |
|
|
rs750046474 CA1472440 |
265 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA345356000 rs1184792420 |
265 | I>M | No |
ClinGen gnomAD |
|
|
CA1472438 rs371280584 |
267 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA39705973 rs201126687 |
267 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201126687 CA1472439 |
267 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345355975 rs1313290206 |
269 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA345355973 rs1453115990 |
270 | V>M | No |
ClinGen TOPMed |
|
|
CA39705944 rs376676358 |
273 | T>I | No |
ClinGen ESP gnomAD |
|
|
rs772555932 CA1472435 |
274 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39705936 rs776734380 |
281 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 283 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs561355125 CA1472433 |
285 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770985913 CA345355858 |
287 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 287 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770985913 CA1472432 |
287 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs749349189 CA1472431 |
288 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 292 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1472430 rs773442079 |
292 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA345355810 rs1325581869 |
294 | P>S | No |
ClinGen TOPMed |
|
|
rs1397640135 CA345355803 |
295 | S>F | No |
ClinGen TOPMed |
|
|
CA345355792 rs1461301698 |
296 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1371264176 CA345355790 |
297 | I>V | No |
ClinGen gnomAD |
|
|
rs1172806723 CA345355770 |
299 | D>G | No |
ClinGen gnomAD |
|
|
CA1472428 rs781187454 |
300 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1472427 rs781187454 |
300 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA345355754 rs1424370682 |
301 | L>I | No |
ClinGen gnomAD |
|
|
CA345355722 rs754958952 |
302 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1000929249 CA39705913 |
305 | I>V | No |
ClinGen gnomAD |
|
|
rs1258537128 CA345355663 |
306 | V>A | No |
ClinGen gnomAD |
|
|
CA345355660 rs1201384553 |
307 | L>V | No |
ClinGen gnomAD |
|
|
CA345355558 rs1332506679 |
313 | P>L | No |
ClinGen TOPMed |
|
|
CA345355576 rs1295088522 |
313 | P>T | No |
ClinGen TOPMed |
|
|
rs779883088 CA345355538 |
314 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs531264378 CA1472423 |
315 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1230943337 CA345355471 |
318 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 319 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1472422 rs749945048 |
319 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs763425291 CA1472393 |
323 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA1472394 rs543299161 |
323 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1472392 rs200588560 |
325 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA39705760 rs200588560 |
325 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1558192146 CA345355215 |
326 | N>K | No |
ClinGen Ensembl |
|
|
CA1472391 rs557630891 |
326 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1472390 rs761994088 |
327 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs776956674 CA1472389 |
328 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 330 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267375884 CA345355137 |
331 | I>M | No |
ClinGen gnomAD |
|
|
rs539204282 CA1472387 |
331 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372195004 CA1472388 |
331 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775208742 CA1472386 |
332 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345355127 rs1348012449 |
332 | T>I | No |
ClinGen gnomAD |
|
|
CA345355128 rs1348012449 |
332 | T>K | No |
ClinGen gnomAD |
|
|
rs1001042251 CA39705740 |
333 | I>M | No |
ClinGen Ensembl |
|
|
CA345355114 rs1265855377 |
334 | L>I | No |
ClinGen gnomAD |
|
|
rs772043034 CA1472385 |
335 | H>N | No |
ClinGen ExAC |
|
|
CA1472384 rs141911723 |
335 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1472383 rs148138589 |
336 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345355040 rs1301117754 |
340 | T>A | No |
ClinGen gnomAD |
|
|
rs143741485 CA1472380 |
342 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1472379 rs201723577 |
343 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780347148 CA1472377 |
345 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345354981 rs1358861245 |
345 | P>S | No |
ClinGen gnomAD |
|
|
CA345354970 rs1175182296 |
346 | L>P | No |
ClinGen TOPMed |
|
|
CA39705675 rs375413643 |
346 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs750898415 CA1472376 |
348 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2794751 VAR_049329 CA1472374 |
348 | H>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1472375 rs750898415 |
348 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1472373 rs761957349 |
349 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs144891600 CA39705638 CA345354939 |
350 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144891600 CA1472372 |
350 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764401410 CA1472371 |
352 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1264851351 CA345354891 |
355 | V>I | No |
ClinGen gnomAD |
|
|
CA1472369 rs775787163 |
356 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1288183613 CA345354865 |
357 | S>C | No |
ClinGen TOPMed |
|
|
CA345354870 rs1485157644 |
357 | S>P | No |
ClinGen gnomAD |
|
|
CA1472368 rs367953651 |
358 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345354851 rs1220752375 |
359 | I>V | No |
ClinGen gnomAD |
|
|
CA1472367 RCV000909961 rs149968331 |
360 | H>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345354828 rs1269595568 |
361 | H>R | No |
ClinGen gnomAD |
|
|
CA345354819 rs1226772610 |
362 | V>I | No |
ClinGen gnomAD |
|
|
rs774231133 CA1472366 |
363 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450798828 CA345353992 |
366 | E>G | No |
ClinGen TOPMed |
|
|
rs1378709347 CA345353974 |
367 | T>I | No |
ClinGen gnomAD |
|
|
CA1472353 rs566412296 |
370 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA39704782 rs974608655 |
370 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1450604396 CA345353930 |
371 | D>G | No |
ClinGen gnomAD |
|
|
CA345353922 rs1378859379 |
372 | G>S | No |
ClinGen TOPMed |
|
|
rs1360149989 CA345353913 |
372 | G>V | No |
ClinGen gnomAD |
|
|
rs547782635 CA1472352 |
374 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1472351 COSM367008 rs767810463 |
375 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1472350 rs759296237 |
376 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1472349 rs774178054 |
378 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs765950856 CA345353813 |
379 | L>F | No |
ClinGen gnomAD |
|
|
COSM906055 CA345353823 rs1460526428 |
379 | L>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs367603895 CA1472348 |
381 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367603895 CA39704730 |
381 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345353785 rs367603895 |
381 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1472347 rs762941150 |
382 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs773135508 CA1472346 |
384 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345353761 rs773135508 |
384 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769123642 CA1472345 |
385 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM906054 rs769123642 CA39704727 |
385 | K>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1472344 rs536011790 |
386 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345353727 rs1458983144 |
387 | S>P | No |
ClinGen gnomAD |
|
|
rs1458983144 CA345353730 |
387 | S>T | No |
ClinGen gnomAD |
|
|
rs1321246913 CA345353704 |
388 | L>P | No |
ClinGen gnomAD |
|
|
rs1287954302 CA345353670 |
391 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1287954302 CA345353672 |
391 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1472340 rs779489345 |
394 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs993241928 CA39704667 |
397 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA345353584 rs1572052670 |
398 | S>N | No |
ClinGen Ensembl |
|
|
rs1409888736 CA345353375 |
399 | L>I | No |
ClinGen TOPMed |
|
|
rs1002088341 CA39703707 |
400 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs761210681 CA1472318 |
402 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA345353357 rs1157119919 |
402 | E>K | No |
ClinGen TOPMed |
|
|
CA1472317 rs776267298 |
405 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA345353333 rs776267298 |
405 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA39703692 rs868715573 |
406 | S>L | No |
ClinGen Ensembl |
|
|
CA1472315 rs746597368 |
407 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA39703686 rs919786919 |
407 | Y>H | No |
ClinGen gnomAD |
|
|
rs1304122450 CA345353286 |
410 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775297342 CA1472314 |
414 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA39703680 rs866515557 |
414 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA345353242 rs866515557 |
414 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1472313 rs771375166 |
415 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs147493070 CA1472311 |
416 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345353199 rs1301973674 |
417 | K>N | No |
ClinGen gnomAD |
|
|
rs1369126985 CA345353188 |
418 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1464416005 CA345353180 |
419 | S>Y | No |
ClinGen gnomAD |
|
|
rs1360814041 CA345353174 |
420 | L>V | No |
ClinGen gnomAD |
|
|
CA345353149 rs1375961801 |
422 | N>S | No |
ClinGen TOPMed |
|
|
CA1472310 rs748162961 |
423 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345353143 rs1176770420 |
423 | E>K | No |
ClinGen gnomAD |
|
|
CA345353142 rs1176770420 |
423 | E>Q | No |
ClinGen gnomAD |
|
|
rs78786861 CA1472308 |
424 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1472306 rs751719289 |
425 | F>L | No |
ClinGen ExAC |
|
|
CA1472305 rs766607585 |
426 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs750285319 CA1472303 |
427 | P>Q | No |
ClinGen ExAC |
|
|
CA345353077 rs758146296 |
427 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758146296 CA1472304 |
427 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345353070 rs1200224208 |
428 | L>F | No |
ClinGen gnomAD |
|
|
CA1472302 rs765074918 |
428 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39703646 rs200417112 |
430 | R>K | No |
ClinGen gnomAD |
|
|
rs2564739 CA345353041 |
430 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760284774 CA1472298 |
434 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA345352985 rs1340740506 |
435 | K>E | No |
ClinGen gnomAD |
|
|
CA1472297 rs574501045 |
435 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA529509110 rs1164601505 |
436 | Y>* | No |
ClinGen gnomAD |
|
|
rs1370421225 CA345352936 |
436 | Y>H | No |
ClinGen gnomAD |
|
|
CA1472280 rs764158257 |
439 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs760233592 CA1472279 |
439 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs764158257 CA345352900 |
439 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA39703415 rs547451139 |
440 | L>F | No |
ClinGen Ensembl |
|
|
rs1429021278 CA345352882 |
441 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 442 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs956227797 CA39703413 |
442 | V>I | No |
ClinGen TOPMed |
|
|
CA1472278 rs752305136 |
443 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA345352765 rs1220395794 |
449 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1311221867 CA345352750 |
451 | I>T | No |
ClinGen gnomAD |
|
|
rs375930921 CA1472273 |
451 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777080330 CA1472272 |
452 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA39703393 rs10925169 |
454 | L>M | No |
ClinGen gnomAD |
|
|
CA345352720 rs1393129357 |
456 | K>E | No |
ClinGen gnomAD |
|
|
CA345352709 rs201708653 |
457 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1472270 rs201708653 |
457 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs112914610 CA345352680 |
459 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1472269 rs112914610 RCV000905068 |
459 | L>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1472267 rs746047994 |
461 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779027115 CA1472266 |
462 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1472265 rs150934078 |
463 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753618231 CA1472264 |
466 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA345352545 rs1269110885 |
467 | S>C | No |
ClinGen gnomAD |
|
|
CA1472262 rs376042124 |
468 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752249631 CA1472261 |
468 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs376042124 CA1472263 |
468 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA345352532 rs1287819556 |
469 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1217068496 CA345352522 |
469 | S>R | No |
ClinGen gnomAD |
|
|
rs1273063955 CA345352454 |
474 | Q>R | No |
ClinGen gnomAD |
|
|
rs748040521 CA1472240 |
480 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 482 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148909192 CA1472239 |
485 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1182704457 CA345351755 |
487 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765149081 CA39702727 |
490 | P>L | No |
ClinGen Ensembl |
|
|
CA345351679 rs1332631858 |
491 | L>P | No |
ClinGen gnomAD |
|
|
CA39702723 rs1031172450 |
492 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs144502500 CA1472238 |
492 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345351671 rs1031172450 |
492 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753474949 CA1472236 |
493 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753474949 CA1472237 |
493 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456325073 CA345351659 |
494 | V>M | No |
ClinGen TOPMed |
|
|
rs1162496214 CA345351636 |
496 | I>N | No |
ClinGen TOPMed |
|
|
CA1472233 rs764388654 |
499 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1472234 rs202190512 |
499 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1472279920 CA345351537 |
501 | H>R | No |
ClinGen gnomAD |
|
|
CA39702708 rs1039867640 |
504 | K>E | No |
ClinGen Ensembl |
|
|
rs775937506 CA1472231 |
504 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1461662799 CA345351448 |
504 | K>N | No |
ClinGen gnomAD |
|
|
CA345351454 rs775937506 |
504 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs904090648 CA39702706 |
505 | I>V | No |
ClinGen TOPMed |
|
|
CA345351415 rs1198078552 |
506 | M>V | No |
ClinGen gnomAD |
|
|
CA1472229 rs759640931 |
509 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs771178359 CA1472227 |
510 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 511 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1472201 rs770177219 |
512 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376890423 CA1472202 |
512 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345350656 rs1156624519 |
513 | V>I | No |
ClinGen gnomAD |
|
|
rs1214469139 CA345350636 |
515 | E>Q | No |
ClinGen TOPMed |
|
|
rs374469202 CA39701282 |
516 | S>P | No |
ClinGen Ensembl |
|
|
rs907267379 CA39701269 |
517 | F>C | No |
ClinGen TOPMed |
|
|
rs1391031431 CA345350603 |
518 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 519 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777699259 CA345350581 |
520 | E>K | No |
ClinGen TOPMed |
|
|
CA345350583 rs777699259 |
520 | E>Q | No |
ClinGen TOPMed |
|
|
CA345350571 rs1408711550 |
521 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs999439577 CA39701264 |
522 | V>G | No |
ClinGen Ensembl |
|
|
rs1470411902 CA345350560 |
522 | V>I | No |
ClinGen TOPMed |
|
|
CA39701261 rs867493254 |
524 | A>V | No |
ClinGen Ensembl |
|
|
rs372480318 CA1472199 |
525 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39701258 rs539775783 |
529 | D>A | No |
ClinGen 1000Genomes |
|
|
rs768505125 CA1472198 |
529 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs746866917 CA1472196 |
531 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA345350465 rs1410513432 |
531 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1472195 rs142765787 |
532 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200359420 CA1472194 |
533 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1218110659 CA345350430 |
536 | S>L | No |
ClinGen gnomAD |
|
|
rs1284690036 CA345350429 |
537 | A>T | No |
ClinGen gnomAD |
|
|
CA1472190 rs149485004 CA345350423 |
538 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1501679 rs149485004 CA1472189 |
538 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs755382653 CA1472188 |
541 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79889770 CA39701216 |
542 | E>* | No |
ClinGen Ensembl |
|
|
CA345350395 rs1455204439 |
542 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs750524140 CA1472165 |
543 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464866866 CA345350376 |
543 | I>V | No |
ClinGen TOPMed |
|
|
CA1472163 rs367739362 |
547 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM3689450 rs1431845727 CA345350343 |
547 | H>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA345350335 rs1203718161 |
548 | F>L | No |
ClinGen gnomAD |
|
|
CA1472162 rs753971634 |
548 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs113875116 CA39700903 |
551 | E>K | No |
ClinGen Ensembl |
|
|
rs1316812594 CA345350308 |
552 | V>A | No |
ClinGen gnomAD |
|
|
CA1472161 rs756878800 |
553 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345350293 rs1367473871 |
555 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1472158 rs547940210 |
556 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547940210 CA345350288 |
556 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1440971975 CA345350284 |
556 | N>K | No |
ClinGen TOPMed |
|
|
CA1472157 rs145749709 |
556 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs140131566 CA1472156 |
557 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345350277 rs1337353679 |
558 | L>M | No |
ClinGen gnomAD |
|
|
rs1337353679 CA345350276 |
558 | L>V | No |
ClinGen gnomAD |
|
|
rs1453439911 CA345350249 |
562 | Q>E | No |
ClinGen gnomAD |
|
|
CA1472153 rs772707877 |
562 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA1472154 rs748860670 |
562 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1472152 rs143731772 |
564 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345350218 rs1572049062 |
567 | S>T | No |
ClinGen Ensembl |
|
|
CA345350200 rs1386061997 |
569 | N>S | No |
ClinGen TOPMed |
|
|
CA1472151 rs56242514 |
570 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345350187 rs1164518130 |
571 | E>G | No |
ClinGen gnomAD |
|
|
rs749324042 CA1472125 COSM161478 |
574 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA39700323 rs755382938 |
575 | V>L | No |
ClinGen gnomAD |
|
|
CA345350027 COSM3977229 rs1558189046 |
578 | I>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1387819319 CA345350008 |
579 | A>V | No |
ClinGen TOPMed |
|
|
rs60920266 CA1472123 |
580 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 581 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345349988 rs1388367604 |
582 | I>V | No |
ClinGen TOPMed |
|
|
rs1300716566 CA345349973 |
584 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 586 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368628396 CA1472119 |
588 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766208942 CA1472118 |
594 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1472117 rs766208942 |
594 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763010853 CA1472116 |
597 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1472115 rs542127174 |
598 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764744234 CA1472114 |
599 | V>L | No |
ClinGen ExAC |
|
|
rs1052896128 CA39700274 |
600 | V>A | No |
ClinGen TOPMed |
|
|
CA1472113 rs574745592 |
600 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1037928329 CA39700263 |
601 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs759970054 CA1472110 |
602 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345349851 rs1286114741 |
602 | C>Y | No |
ClinGen gnomAD |
|
|
CA39700254 rs943902812 |
606 | F>Y | No |
ClinGen Ensembl |
|
|
rs2794763 CA345349821 |
607 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2794763 CA1472109 VAR_049330 |
607 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345349806 rs1255429441 |
609 | I>V | No |
ClinGen gnomAD |
|
|
rs549697437 CA1472108 |
610 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345349785 rs1553284527 |
612 | D>H | No |
ClinGen Ensembl |
|
|
CA1472106 rs1553284527 |
612 | D>N | No |
ClinGen Ensembl |
|
|
rs1483791970 CA345349781 |
612 | D>V | No |
ClinGen TOPMed |
|
|
CA39700244 rs1049503654 |
614 | T>A | No |
ClinGen TOPMed |
|
|
rs141140258 CA1472105 |
614 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769876017 CA1472103 |
615 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1402132704 CA345349740 |
618 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs188429321 CA1472102 |
618 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345349735 rs1311564088 |
619 | M>K | No |
ClinGen TOPMed |
|
|
CA345349734 rs1311564088 |
619 | M>T | No |
ClinGen TOPMed |
|
|
rs781365715 CA1472101 |
620 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345349721 rs1572048448 |
621 | I>V | No |
ClinGen Ensembl |
|
|
rs1429530921 CA345349715 |
622 | A>T | No |
ClinGen gnomAD |
|
|
CA345349703 rs1371406799 |
623 | I>M | No |
ClinGen TOPMed |
|
|
CA1472099 rs138177334 |
627 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1243566907 CA345349679 |
627 | K>T | No |
ClinGen gnomAD |
|
|
rs758139252 CA1472097 |
631 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA1472096 rs750336767 |
632 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA345349644 rs750336767 |
632 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs936496104 CA39700225 |
634 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1201819590 CA345349635 |
634 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1472095 rs765128251 |
635 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 635 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765143633 CA39700210 |
641 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs555144272 CA39700194 |
642 | E>* | No |
ClinGen Ensembl |
|
|
rs939728257 CA39700006 |
643 | A>V | No |
ClinGen Ensembl |
|
|
rs753834969 CA1472073 |
647 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 648 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345349404 rs1165241484 |
648 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1472072 rs370681768 |
649 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755711214 CA1472071 |
651 | T>P | No |
ClinGen ExAC |
|
|
rs1350872342 CA345349331 |
653 | P>L | No |
ClinGen TOPMed |
|
|
CA1472069 rs767113628 |
658 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA345349258 rs1205440856 |
659 | V>A | No |
ClinGen gnomAD |
|
|
rs763351260 CA1472068 |
660 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1228473777 CA345349242 |
661 | N>D | No |
ClinGen TOPMed |
|
|
rs1228473777 CA345349243 |
661 | N>H | No |
ClinGen TOPMed |
|
|
CA1472067 rs773502970 |
664 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs773502970 CA345349197 |
664 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs765724810 CA1472066 |
665 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1221551348 CA345349157 |
667 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs560970846 CA39699946 |
669 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 670 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1472064 rs527740697 |
671 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1374812250 CA345349069 |
673 | N>S | No |
ClinGen gnomAD |
|
|
rs747100163 CA1472062 |
676 | D>A | No |
ClinGen ExAC |
|
|
rs1488980962 CA345349019 |
677 | P>T | No |
ClinGen gnomAD |
|
|
CA1472058 CA1472059 rs778787258 |
680 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs376159886 CA1472061 |
680 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1472060 rs376159886 |
680 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs41308194 RCV000887955 CA1472056 |
681 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777890759 CA1472055 |
682 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs980188884 CA39699878 |
682 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 685 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572047798 CA345348812 |
686 | D>N | No |
ClinGen Ensembl |
|
|
CA345348786 rs1006456 |
687 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 687 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1261387910 CA345348779 |
688 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
CA345348775 rs1185152791 |
689 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1487127179 CA345348769 |
689 | S>T | No |
ClinGen gnomAD |
|
|
rs111453499 CA1472029 |
690 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1472028 rs111453499 |
690 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 691 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39699470 rs956931200 |
692 | E>G | No |
ClinGen TOPMed |
|
|
CA345348744 rs1459555716 |
693 | E>G | No |
ClinGen gnomAD |
|
|
rs1264495958 CA345348738 |
694 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1223680249 CA345348736 |
694 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA345348733 rs1306579157 |
694 | E>D | No |
ClinGen gnomAD |
|
|
rs886750644 CA39699464 |
695 | S>P | No |
ClinGen Ensembl |
|
|
CA1472023 rs767450820 |
697 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs200590400 CA1472024 |
697 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345348712 rs1250227751 |
698 | L>V | No |
ClinGen TOPMed |
|
|
CA1472022 rs759695973 |
699 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1472021 rs774685885 |
699 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA345348701 rs1466691963 |
700 | Q>E | No |
ClinGen gnomAD |
|
|
rs771325790 CA1472020 |
702 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1472018 rs374353213 COSM906051 |
703 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374353213 CA1472019 |
703 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1472016 rs747976958 |
705 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA345348655 rs1012278529 |
707 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA39699374 rs1012278529 |
707 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781210802 CA1472015 |
708 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA345348645 rs1391030530 |
709 | S>P | No |
ClinGen TOPMed |
|
|
CA345348636 rs1244388471 |
710 | V>A | No |
ClinGen gnomAD |
|
|
rs746559932 CA1472013 |
712 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs376992643 CA1472011 |
713 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs199564595 CA1472010 |
714 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1472007 rs756526983 |
717 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM106750 CA39699313 rs145377606 |
720 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1396740219 CA345348567 |
721 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA345348560 rs1296713557 |
722 | H>R | No |
ClinGen gnomAD |
|
|
rs202037998 CA1472004 |
723 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766701060 CA1472002 |
724 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs150874819 CA1472001 |
725 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345348526 rs1418054710 |
727 | I>M | No |
ClinGen gnomAD |
|
|
CA1471999 rs140350692 RCV000906233 |
727 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs761698721 CA1471998 |
728 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1178534317 CA345348521 |
728 | R>S | No |
ClinGen gnomAD |
|
|
rs878979005 CA39699285 |
729 | V>I | No |
ClinGen Ensembl |
|
|
CA1471997 rs373793253 |
730 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA39699284 rs975367128 |
730 | F>L | No |
ClinGen Ensembl |
|
|
CA345348500 rs1220051176 |
732 | L>M | No |
ClinGen gnomAD |
|
|
rs1361493176 CA345348497 |
732 | L>S | No |
ClinGen gnomAD |
|
|
rs768685835 CA1471996 |
734 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1245581812 CA345348478 |
735 | K>E | No |
ClinGen gnomAD |
|
|
CA39699277 rs867230417 |
735 | K>N | No |
ClinGen Ensembl |
|
|
CA345348468 rs1335193309 |
736 | K>R | No |
ClinGen gnomAD |
|
|
rs1257881359 CA345348462 |
737 | I>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 737 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs556876977 CA1471994 |
738 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1471993 rs137889824 |
739 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745478013 CA1471991 |
742 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA1471990 rs141347838 |
743 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577915974 CA1471989 |
744 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1361485707 CA345348415 |
744 | I>T | No |
ClinGen gnomAD |
|
|
CA345348406 rs1160673123 |
745 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 745 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472706235 CA345348399 |
747 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs895039767 CA39759312 |
749 | I>F | No |
ClinGen gnomAD |
|
|
rs895039767 CA345373147 |
749 | I>V | No |
ClinGen gnomAD |
|
|
rs773856156 CA1471972 |
754 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 754 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345373105 rs770677548 COSM1738474 |
755 | I>F | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1471970 rs748453232 |
755 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1471971 rs770677548 |
755 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1465364915 CA345373082 |
758 | M>I | No |
ClinGen gnomAD |
|
|
CA345373086 rs1357754742 |
758 | M>L | No |
ClinGen TOPMed |
|
|
rs781550957 CA1471969 |
758 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA39759283 rs1000648669 |
761 | R>G | No |
ClinGen Ensembl |
|
|
rs149323115 CA39759269 |
763 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345373049 rs1289073109 |
763 | I>T | No |
ClinGen TOPMed |
|
|
rs928302063 CA39759257 |
764 | P>S | No |
ClinGen TOPMed |
|
|
rs1275797541 CA345373038 |
765 | V>A | No |
ClinGen gnomAD |
|
|
CA345373026 rs1325163516 |
767 | L>P | No |
ClinGen gnomAD |
|
|
rs1436491259 CA345373023 |
768 | W>R | No |
ClinGen gnomAD |
|
|
rs933088417 CA39759249 |
768 | W>S | No |
ClinGen TOPMed |
|
|
CA1471963 rs778988401 |
770 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA345373005 rs1298971377 |
770 | H>R | No |
ClinGen TOPMed |
|
|
rs145047352 CA1471961 |
771 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145047352 CA345372999 |
771 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs553495718 CA1471962 |
771 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1471960 rs763828193 |
774 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs752604734 CA1471958 |
776 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1374608694 CA345372961 |
777 | S>G | No |
ClinGen gnomAD |
|
|
CA345372953 rs1261524292 |
778 | T>A | No |
ClinGen TOPMed |
|
|
CA345372949 rs1489314500 |
778 | T>I | No |
ClinGen TOPMed |
|
|
CA345372947 rs1214468369 |
779 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 779 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1471956 rs528453790 |
781 | V>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA345372928 rs1558187653 |
782 | A>T | No |
ClinGen Ensembl |
|
|
CA1471954 rs148574750 |
783 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1471953 rs762603899 |
785 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471952 rs200168702 |
786 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345372895 rs1298179595 |
787 | V>F | No |
ClinGen Ensembl |
|
|
rs145813934 CA1471951 |
790 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145813934 CA345372877 CA345372876 |
790 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1471949 rs780682035 |
793 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345372851 rs1312276290 |
794 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA39759185 rs931431219 |
795 | K>I | No |
ClinGen Ensembl |
|
| TCGA novel | 795 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1471946 rs778995015 |
796 | F>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 796 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746366377 CA1471947 |
796 | F>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs975652070 CA39759154 |
797 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA39759170 rs1027247087 |
797 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs757307538 COSM3705655 CA1471945 |
799 | A>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1471944 rs754053380 |
800 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181797531 CA345372797 |
802 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA39759128 rs200192326 |
804 | K>I | No |
ClinGen ExAC TOPMed |
|
|
CA1471943 rs200192326 |
804 | K>T | No |
ClinGen ExAC TOPMed |
|
|
rs755885940 CA1471942 |
805 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755885940 CA39759106 |
805 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471940 rs767441332 |
806 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA345372767 rs1206406771 |
807 | P>L | No |
ClinGen gnomAD |
|
|
rs1277198658 CA345372770 |
807 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs749461466 CA1471920 |
811 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA345372730 rs751470101 |
811 | I>R | No |
ClinGen ExAC gnomAD |
|
|
CA1471919 rs751470101 |
811 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs749461466 CA39758900 |
811 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs757902623 CA345372728 CA1471917 |
812 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1437031937 CA345372717 |
813 | W>* | No |
ClinGen gnomAD |
|
|
rs1397930270 CA345372720 |
813 | W>R | No |
ClinGen TOPMed |
|
|
rs200554151 CA1471915 |
824 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345372636 rs1317692793 |
824 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs761501312 CA1471914 |
825 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471913 rs776445716 |
827 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1480235985 CA345372603 |
829 | L>V | No |
ClinGen gnomAD |
|
|
rs1282543751 CA345372596 |
830 | I>F | No |
ClinGen TOPMed |
|
|
CA1471911 rs759860055 |
830 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774903242 CA1471910 |
831 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1471909 rs370893770 |
833 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 834 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368009730 CA1471908 |
835 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1230488285 CA345372565 |
835 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA345372566 rs1230488285 |
835 | M>V | No |
ClinGen TOPMed |
|
|
rs1465821964 CA345372550 |
837 | L>F | No |
ClinGen gnomAD |
|
|
rs147175308 CA1471907 |
838 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1471906 rs374427656 |
838 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1471905 rs748315794 |
839 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs781420901 CA1471904 |
840 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1471902 rs746827890 |
841 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471903 rs370263527 |
841 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1321316442 CA345372512 |
843 | V>A | No |
ClinGen gnomAD |
|
|
rs139503389 CA39758797 |
844 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1322112633 CA345372508 |
844 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs139503389 CA1471900 |
844 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345372471 rs1553284088 |
849 | M>I | No |
ClinGen Ensembl |
|
|
rs1572045999 CA345372449 |
852 | F>L | No |
ClinGen Ensembl |
|
|
rs1357712835 CA345372453 |
852 | F>L | No |
ClinGen gnomAD |
|
|
CA1471899 rs750389344 |
853 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA345372416 rs1412121353 |
855 | V>G | No |
ClinGen gnomAD |
|
|
rs1306554368 CA345372419 |
855 | V>L | No |
ClinGen gnomAD |
|
|
CA345372398 rs1214250136 |
858 | E>G | No |
ClinGen TOPMed |
|
|
rs1163462597 CA345372370 |
862 | Q>* | No |
ClinGen gnomAD |
|
|
rs1260565749 CA345372356 |
864 | F>L | No |
ClinGen TOPMed |
|
|
rs752410401 CA1471868 |
864 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA39757743 rs943144674 |
865 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1471867 rs766599773 |
866 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs766599773 CA345372342 |
866 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs763334492 CA1471866 |
869 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs765778239 CA1471864 |
870 | L>F | No |
ClinGen ExAC |
|
|
rs369564820 CA1471863 |
872 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776639028 CA1471862 |
873 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs760750212 CA1471860 |
880 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471861 rs201241450 |
880 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245697995 CA345372245 |
881 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1471858 rs147383856 |
884 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1471856 rs375206460 |
885 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA39757672 rs994861000 |
886 | K>E | No |
ClinGen Ensembl |
|
|
CA1471855 rs771062009 |
887 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1393602833 CA345372199 |
888 | V>L | No |
ClinGen gnomAD |
|
|
CA345372189 rs1417304159 |
890 | Q>E | No |
ClinGen TOPMed |
|
|
CA345372157 rs1350260822 |
894 | L>R | No |
ClinGen TOPMed |
|
|
rs1428266533 CA345372116 |
900 | M>I | No |
ClinGen gnomAD |
|
|
CA1471851 rs752248066 |
900 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345372110 rs1196551815 |
901 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 903 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39757630 rs767087161 |
903 | S>C | No |
ClinGen Ensembl |
|
|
rs750843509 CA1471848 |
907 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA345372063 rs1485562499 |
908 | C>F | No |
ClinGen gnomAD |
|
|
rs1558186768 CA345372042 |
911 | Q>E | No |
ClinGen Ensembl |
|
|
rs765726863 CA1471847 |
911 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA345372031 rs1330151312 |
913 | A>T | No |
ClinGen gnomAD |
|
|
CA345372025 rs1283040331 |
914 | S>P | No |
ClinGen gnomAD |
|
|
CA1471845 rs752020178 |
915 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA39757616 rs752020178 |
915 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA345372011 rs1333314953 |
916 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs940469809 CA39757608 |
917 | S>P | No |
ClinGen TOPMed |
|
|
CA1471844 rs764041923 |
917 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1415826685 CA345371966 |
922 | S>Y | No |
ClinGen gnomAD |
|
|
CA345371939 rs1572042657 |
926 | N>T | No |
ClinGen Ensembl |
|
|
rs150389618 CA1471824 |
929 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345371913 rs1294243318 |
930 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs756136936 CA1471822 |
930 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 931 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374645333 CA1471820 |
931 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1471819 rs759778339 |
932 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345371884 rs1237006144 |
935 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1185603876 CA345371882 |
935 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 937 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1471818 rs766233566 COSM464191 CA1471817 |
940 | Q>H | Variant assessed as Somatic; 0.0 impact. kidney [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA39753735 rs1040389283 |
940 | Q>L | No |
ClinGen TOPMed |
|
|
rs1007156255 CA39753690 |
944 | A>G | No |
ClinGen TOPMed |
|
|
CA1471813 rs747606599 |
945 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1471811 rs111564783 RCV000953017 |
946 | S>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345371812 rs1354957777 |
946 | S>R | No |
ClinGen gnomAD |
|
|
rs779722182 CA1471809 |
947 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs372365051 CA1471810 |
947 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA39753656 rs761816782 |
949 | A>T | No |
ClinGen Ensembl |
|
|
rs150392772 CA1471805 COSM1340361 |
951 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150392772 CA1471806 |
951 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1471807 rs749721725 |
951 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1471803 rs368605325 |
953 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1169102935 CA345371777 |
953 | Y>H | No |
ClinGen gnomAD |
|
|
CA345371769 rs1473893386 |
954 | L>Q | No |
ClinGen gnomAD |
|
|
CA1471801 rs766753791 |
955 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766753791 CA1471800 |
955 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39753593 rs1055044456 |
956 | I>M | No |
ClinGen Ensembl |
|
|
CA39753599 rs896595716 |
956 | I>T | No |
ClinGen gnomAD |
|
|
CA345371760 rs1181882448 |
956 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs16833953 VAR_049331 CA1471799 |
957 | D>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345371749 rs144454146 |
958 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345371747 rs1409736793 |
958 | H>R | No |
ClinGen gnomAD |
|
|
CA1471798 COSM226495 rs144454146 |
958 | H>Y | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1471797 rs764943663 |
959 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs761751615 CA1471796 |
961 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA345371723 rs1229579517 |
962 | K>E | No |
ClinGen gnomAD |
|
|
CA345371706 rs1221082885 |
964 | E>G | No |
ClinGen TOPMed |
|
|
CA39753523 rs925192148 |
965 | E>D | No |
ClinGen Ensembl |
|
|
CA1471794 rs768114304 |
965 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA345371694 rs1558185030 |
966 | I>F | No |
ClinGen Ensembl |
|
|
rs760228304 CA1471792 |
966 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1352026682 CA345371688 |
967 | T>P | No |
ClinGen gnomAD |
|
|
rs375239299 CA1471791 |
968 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150596810 CA1471789 |
969 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345371679 rs141424510 |
969 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1471790 rs141424510 |
969 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345371673 rs1401650215 |
970 | A>T | No |
ClinGen gnomAD |
|
|
CA345371668 rs1321635502 |
970 | A>V | No |
ClinGen gnomAD |
|
|
CA1471788 rs200043693 |
972 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770080121 CA1471787 |
974 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345371636 rs1158652841 |
975 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA345371600 rs1572042328 |
979 | T>A | No |
ClinGen Ensembl |
|
|
rs1310174969 CA345371564 |
984 | L>I | No |
ClinGen gnomAD |
|
|
rs781760286 CA1471767 |
985 | Q>E | No |
ClinGen ExAC |
|
|
rs1280477369 CA345371554 |
985 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 985 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1471766 rs769350794 |
988 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296928197 CA345371522 |
990 | L>M | No |
ClinGen gnomAD |
|
|
CA345371501 rs1367472177 |
993 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780122575 CA1471764 |
999 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1178758037 CA345371434 COSM1601952 |
1002 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs758428014 CA1471763 |
1004 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1471762 rs750617675 |
1004 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs779043626 CA1471761 |
1005 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779043626 CA39753145 |
1005 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245609152 CA345371410 |
1006 | C>Y | No |
ClinGen TOPMed |
|
|
CA345371390 rs1201810877 |
1009 | S>G | No |
ClinGen gnomAD |
|
|
rs753700598 CA345371374 |
1011 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471759 rs753700598 |
1011 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482078598 CA345371369 |
1012 | S>P | No |
ClinGen gnomAD |
|
|
rs1210607875 CA345371328 |
1017 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1017 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345371330 rs1345350045 |
1017 | D>V | No |
ClinGen gnomAD |
|
|
rs760549674 CA1471757 |
1018 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA1471756 rs752601785 |
1019 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345371312 rs1558184818 |
1020 | K>E | No |
ClinGen Ensembl |
|
|
CA345371300 rs1228095127 |
1021 | V>A | No |
ClinGen gnomAD |
|
|
rs1230563705 CA345371305 |
1021 | V>I | No |
ClinGen gnomAD |
|
|
rs1344332024 CA345371296 |
1022 | L>H | No |
ClinGen gnomAD |
|
|
rs138072030 CA1471755 |
1026 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202082960 CA39753076 |
1026 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202082960 CA1471754 |
1026 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1471752 rs766001824 |
1027 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419565952 CA345371226 |
1031 | L>I | No |
ClinGen gnomAD |
|
|
rs1208009274 CA345371195 |
1036 | P>A | No |
ClinGen gnomAD |
|
|
CA345371192 rs200561440 |
1036 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1471730 rs200561440 |
1036 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776042549 CA1471727 |
1037 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs760985649 CA1471728 |
1037 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764511876 CA1471729 |
1037 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345371180 rs1325834649 |
1038 | A>V | No |
ClinGen TOPMed |
|
|
rs772521784 CA1471726 |
1039 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471725 rs116166233 |
1040 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345371168 rs116166233 |
1040 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1342642340 CA345371161 |
1041 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1043 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345371145 rs1209817596 |
1044 | K>* | No |
ClinGen TOPMed |
|
|
rs771023803 CA1471723 |
1044 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1471722 rs148105576 |
1046 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA39751880 rs894632494 |
1046 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1218967730 CA345371126 |
1047 | K>E | No |
ClinGen TOPMed |
|
|
CA39751876 rs867224313 |
1048 | E>D | No |
ClinGen Ensembl |
|
|
rs1558184403 CA345371119 |
1048 | E>K | No |
ClinGen Ensembl |
|
|
CA1471721 rs778012930 |
1049 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs781181903 CA1471718 |
1050 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39751848 rs959869052 |
1050 | T>I | No |
ClinGen gnomAD |
|
|
rs1379828744 CA345371093 |
1052 | V>A | No |
ClinGen TOPMed |
|
|
rs1383652725 CA345371074 |
1055 | D>G | No |
ClinGen gnomAD |
|
|
CA39751840 rs919467404 |
1056 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1471717 rs754802213 |
1057 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA39751829 rs752591205 |
1058 | M>V | No |
ClinGen Ensembl |
|
|
CA345371036 rs1380599136 |
1061 | H>R | No |
ClinGen TOPMed |
|
|
CA1471716 rs751525354 |
1061 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1266419649 CA345371026 |
1063 | T>A | No |
ClinGen gnomAD |
|
|
CA39751823 rs868743217 |
1063 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1065 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255787329 CA345371006 |
1066 | K>R | No |
ClinGen gnomAD |
|
|
CA345370998 rs1314537948 |
1067 | Y>C | No |
ClinGen gnomAD |
|
|
rs905633436 CA39751818 |
1068 | N>S | No |
ClinGen gnomAD |
|
|
rs370869084 CA1471713 |
1076 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765031157 CA1471712 |
1076 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs370869084 CA39751816 |
1076 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761095912 CA1471711 |
1077 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA39751788 rs909329329 |
1078 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM354856 CA1471709 rs767937308 |
1079 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1167908231 CA345370919 |
1079 | P>T | No |
ClinGen gnomAD |
|
|
CA39751771 rs894021340 |
1080 | K>R | No |
ClinGen Ensembl |
|
|
rs199616842 CA345370890 |
1083 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1195526194 CA345370895 |
1083 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA345370891 rs1447861094 |
1083 | D>V | No |
ClinGen gnomAD |
|
|
rs763065743 CA1471705 |
1084 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1471706 rs377284390 |
1084 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1471704 rs773405671 |
1086 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1471703 rs770073279 |
1090 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345370849 rs1354744843 |
1090 | H>Y | No |
ClinGen TOPMed |
|
|
CA39751697 rs956625027 |
1091 | T>R | No |
ClinGen TOPMed |
|
|
rs748410988 CA1471702 |
1091 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA39751674 rs1051964000 |
1092 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA345370834 rs1339572617 |
1092 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA345370835 rs1339572617 |
1092 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1331916027 CA345370832 |
1093 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1193465458 CA345370827 |
1093 | K>N | No |
ClinGen TOPMed |
|
|
CA345370817 rs1375870736 |
1095 | L>F | No |
ClinGen gnomAD |
|
|
CA1471698 rs780182886 |
1096 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1471699 rs746883150 |
1096 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
COSM355350 CA1471696 rs139477120 |
1097 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1471695 rs778570394 COSM1185799 |
1097 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1098 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753548904 CA1471693 |
1098 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39751597 rs767731232 |
1101 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471692 rs767731232 |
1101 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372897306 CA345370776 |
1102 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1471690 rs79225714 |
1102 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372897306 CA1471691 |
1102 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369436014 CA1471689 |
1103 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1471688 rs763012371 |
1105 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA345370756 rs1355068308 |
1105 | T>I | No |
ClinGen gnomAD |
|
|
rs773213234 CA1471687 |
1106 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1471684 rs377405226 |
1108 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1471683 rs377405226 |
1108 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377405226 CA1471685 |
1108 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777283123 CA1471658 |
1110 | I>M | No |
ClinGen ExAC gnomAD |
|
|
COSM533537 CA345370716 rs1246982024 |
1110 | I>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1471657 rs755720751 |
1111 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345370701 rs1572041172 |
1112 | K>N | No |
ClinGen Ensembl |
|
|
rs1040417521 CA39751091 |
1112 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs928589629 CA39751089 |
1113 | P>R | No |
ClinGen Ensembl |
|
|
rs1301690036 CA345370699 |
1113 | P>T | No |
ClinGen TOPMed |
|
|
rs979922845 CA39751087 |
1115 | F>C | No |
ClinGen TOPMed |
|
|
CA345370682 rs979922845 |
1115 | F>S | No |
ClinGen TOPMed |
|
|
CA1471656 rs747816359 |
1116 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1240383488 CA345370677 |
1116 | A>V | No |
ClinGen TOPMed |
|
|
rs780352052 CA39751058 |
1117 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780352052 CA1471655 |
1117 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443259829 CA345370669 |
1118 | I>V | No |
ClinGen gnomAD |
|
|
CA1471653 rs750900693 |
1119 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239661224 CA345370653 |
1120 | D>V | No |
ClinGen Ensembl |
|
|
rs765823873 CA1471652 |
1121 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1121 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345370638 rs1247284014 |
1122 | K>N | No |
ClinGen TOPMed |
|
|
CA39751048 rs576961723 |
1122 | K>T | No |
ClinGen 1000Genomes |
|
|
rs4659683 CA345370633 |
1123 | V>D | No |
ClinGen gnomAD |
|
|
rs4659683 CA39751038 |
1123 | V>G | No |
ClinGen gnomAD |
|
|
CA39751029 rs935189490 |
1124 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA345370612 rs1191564420 |
1126 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1127 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1471648 rs376304118 |
1132 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA39750979 rs748718984 |
1132 | F>S | No |
ClinGen Ensembl |
|
|
rs760930540 CA39750961 |
1134 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410371050 CA345370550 |
1135 | L>W | No |
ClinGen TOPMed |
|
|
CA1471645 rs767386827 |
1137 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1471643 rs558762339 |
1140 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA39750951 rs868631637 |
1143 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA39750949 rs954936526 |
1144 | A>S | No |
ClinGen Ensembl |
|
|
CA345370471 rs1351035218 |
1146 | T>I | No |
ClinGen TOPMed |
|
|
CA345370472 rs1351035218 |
1146 | T>S | No |
ClinGen TOPMed |
|
|
rs770963849 CA1471642 |
1149 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234936825 CA345370453 |
1149 | S>N | No |
ClinGen gnomAD |
|
|
CA345370438 rs1435073996 |
1151 | F>S | No |
ClinGen Ensembl |
|
|
rs749182752 CA1471641 |
1152 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1297033041 CA345370422 |
1153 | G>V | No |
ClinGen gnomAD |
|
|
CA345370408 rs1461819063 |
1154 | I>V | No |
ClinGen TOPMed |
|
|
CA1471616 rs781305437 |
1156 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1045981863 CA39749550 |
1157 | N>H | No |
ClinGen Ensembl |
|
|
rs779288098 COSM224185 CA1471615 |
1158 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs771230939 CA1471614 |
1158 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA39749522 rs749028568 |
1160 | Q>R | No |
ClinGen Ensembl |
|
|
CA345370356 rs374984885 |
1162 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1471612 rs374984885 |
1162 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345370349 rs1221098148 |
1163 | I>M | No |
ClinGen gnomAD |
|
|
CA1471610 rs756246368 |
1164 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1275406568 CA345370327 |
1167 | P>S | No |
ClinGen gnomAD |
|
|
CA345370317 rs1234338330 |
1168 | P>L | No |
ClinGen gnomAD |
|
|
CA345370320 rs1287081321 |
1168 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1471609 rs752889526 |
1170 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA345370284 rs1393651493 |
1173 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs916070176 CA39749468 |
1174 | L>S | No |
ClinGen Ensembl |
|
|
CA1471608 rs781421873 |
1180 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA345370219 rs1487687476 |
1183 | Q>E | No |
ClinGen TOPMed |
|
|
COSM1185798 rs755166255 CA1471607 |
1185 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1208895698 CA345370204 |
1185 | M>V | No |
ClinGen TOPMed |
|
|
CA345370196 rs1165220462 |
1186 | Q>K | No |
ClinGen gnomAD |
|
|
rs751755305 CA1471606 |
1187 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471582 rs765021255 |
1191 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA345370135 rs1349339113 |
1192 | D>E | No |
ClinGen gnomAD |
|
|
rs753802952 CA1471580 |
1192 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1194 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303576876 CA345370116 |
1195 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 1195 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345370104 rs1223856843 |
1197 | Q>R | No |
ClinGen gnomAD |
|
|
CA345370093 rs149288116 |
1198 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139560097 CA1471577 |
1199 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1471576 rs767138512 |
1200 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286359454 CA345370087 |
1200 | G>R | No |
ClinGen gnomAD |
|
|
CA39749150 rs527787716 |
1204 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA345370044 rs1273391426 |
1206 | R>K | No |
ClinGen TOPMed |
|
|
CA345370036 rs1401272200 |
1207 | V>A | No |
ClinGen gnomAD |
|
|
rs1436520893 CA345370026 |
1209 | L>V | No |
ClinGen gnomAD |
|
|
rs1347977862 CA345370020 |
1210 | I>V | No |
ClinGen TOPMed |
|
|
rs1301811097 CA345370014 |
1211 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 1213 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1219 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407754933 CA345369957 |
1219 | K>Q | No |
ClinGen gnomAD |
|
|
CA39749139 rs58165825 |
1221 | R>K | No |
ClinGen Ensembl |
|
|
CA345369913 rs1475194768 |
1225 | I>L | No |
ClinGen gnomAD |
|
|
rs1429415157 CA345369901 |
1227 | V>M | No |
ClinGen gnomAD |
|
|
rs777322505 CA1471571 |
1228 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1471570 rs768761367 |
1229 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768761367 CA345369890 |
1229 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39749098 rs894760080 |
1230 | L>F | No |
ClinGen gnomAD |
|
|
CA345369883 rs1280384668 |
1230 | L>H | No |
ClinGen gnomAD |
|
|
rs747120147 CA1471569 |
1232 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1336910497 CA345369864 |
1233 | L>V | No |
ClinGen gnomAD |
|
|
rs866586055 CA39748274 |
1237 | C>S | No |
ClinGen Ensembl |
|
|
rs772216623 CA345369814 |
1239 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1471549 rs772216623 |
1239 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA345369806 rs1334038526 |
1240 | P>A | No |
ClinGen gnomAD |
|
|
rs1558183198 CA345369804 |
1240 | P>H | No |
ClinGen Ensembl |
|
|
CA345369807 rs1334038526 |
1240 | P>T | No |
ClinGen gnomAD |
|
|
rs887404006 TCGA novel CA39748260 |
1241 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
| TCGA novel | 1242 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs968923678 CA39748259 |
1242 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1244 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345369778 rs1317380938 |
1244 | E>G | No |
ClinGen gnomAD |
|
|
CA1471547 rs779154192 |
1246 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs370088862 CA1471546 |
1247 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345369757 rs1311925045 |
1247 | N>S | No |
ClinGen gnomAD |
|
|
rs375679830 CA1471544 |
1248 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749146563 CA1471545 |
1248 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1471543 rs199851350 |
1250 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA39748243 rs898489518 |
1251 | T>I | No |
ClinGen TOPMed |
|
|
CA1471541 rs201619269 |
1252 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1471540 rs147110509 |
1253 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1471538 rs148988733 |
1257 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345369684 rs1215180884 |
1258 | C>S | No |
ClinGen gnomAD |
|
|
rs1335170397 CA345369673 |
1260 | L>F | No |
ClinGen gnomAD |
|
|
rs762267730 CA1471537 |
1260 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA345369663 rs1221996855 |
1261 | N>I | No |
ClinGen gnomAD |
|
|
rs1456611031 CA345369649 |
1263 | C>S | No |
ClinGen TOPMed |
|
|
rs76073611 CA1471534 |
1264 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345369644 rs1163120858 |
1264 | Q>K | No |
ClinGen TOPMed |
|
|
rs776097501 CA1471533 |
1266 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471530 rs774549532 |
1267 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1471528 rs201125369 |
1268 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1399441530 CA345369618 |
1268 | P>L | No |
ClinGen gnomAD |
|
|
rs201125369 CA1471529 |
1268 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA345369606 rs1339037781 |
1270 | G>D | No |
ClinGen TOPMed |
|
|
CA39748152 rs913171186 |
1270 | G>S | No |
ClinGen TOPMed |
|
|
CA1471526 rs769658449 |
1272 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471525 rs748001309 |
1273 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1274 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199948161 CA1471524 |
1274 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768651802 CA1471504 |
1276 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs551819849 CA1471523 |
1276 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs143410468 CA1471503 |
1277 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1471502 rs779663173 |
1277 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39747890 rs143410468 |
1277 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758015784 CA1471501 |
1278 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA1471499 rs149379590 |
1279 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1471500 rs148676376 |
1279 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149379590 CA345369541 |
1279 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756429013 CA1471498 |
1281 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA39747875 rs995728790 |
1281 | E>Q | No |
ClinGen TOPMed |
|
|
rs201415717 CA1471496 |
1282 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1354165077 CA345369515 |
1283 | F>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM210460 rs755424367 CA1471494 |
1285 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA345369483 COSM1194760 rs1558182997 |
1287 | L>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA39747863 rs61730305 |
1288 | I>T | No |
ClinGen TOPMed |
|
|
rs766412670 CA1471492 |
1291 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA345369445 rs1411365102 COSM3705654 |
1293 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA1471491 rs763139216 |
1293 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs773296322 CA1471490 |
1295 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471488 rs372421763 |
1296 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs545842963 CA1471487 CA1471486 |
1297 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1471485 rs749994487 |
1298 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345369415 rs1483585627 |
1298 | P>S | No |
ClinGen gnomAD |
|
|
rs553776325 CA1471483 |
1303 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745448080 CA1471482 |
1303 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471480 rs368783856 |
1306 | L>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1296015290 CA345369339 |
1310 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA345369337 rs1296015290 |
1310 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs755373172 CA345369327 |
1312 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs755373172 CA1471477 |
1312 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1471476 rs752036660 |
1312 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1054265331 CA39747657 |
1313 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1054265331 CA39747636 |
1313 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA345369318 rs1362499111 |
1314 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1471475 rs144916392 |
1315 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA39747623 rs935904378 |
1316 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1441553336 CA345369286 |
1317 | D>N | No |
ClinGen gnomAD |
|
|
CA1471454 rs780403528 |
1321 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201502489 CA1471455 |
1321 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA39744981 rs573451380 |
1322 | N>S | No |
ClinGen gnomAD |
|
|
rs201759425 CA39744954 |
1324 | M>I | No |
ClinGen gnomAD |
|
|
CA1471453 rs758886629 |
1325 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345369226 rs750920062 |
1326 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA1471451 rs200421108 |
1326 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1471452 rs750920062 |
1326 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA345369220 rs1259418348 |
1327 | F>L | No |
ClinGen gnomAD |
|
|
CA1471449 rs754093326 |
1330 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs900636432 CA39744923 |
1330 | M>T | No |
ClinGen Ensembl |
|
|
rs1422590594 CA345369186 |
1332 | A>T | No |
ClinGen TOPMed |
|
|
rs764470713 CA1471448 |
1332 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs999354392 CA39744893 |
1333 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs150496012 CA345369178 |
1333 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1471447 rs150496012 |
1333 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345369179 rs150496012 |
1333 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1381398635 CA345369163 |
1335 | M>I | No |
ClinGen gnomAD |
|
|
rs1301566745 CA345369168 |
1335 | M>V | No |
ClinGen gnomAD |
|
|
COSM1209441 rs376322680 CA1471446 |
1336 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA345369158 rs1290503088 |
1336 | R>H | No |
ClinGen gnomAD |
|
|
CA345369133 rs1361245989 |
1340 | T>A | No |
ClinGen gnomAD |
|
|
rs774191479 CA1471443 |
1342 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA345369117 rs1379540237 |
1342 | S>T | No |
ClinGen gnomAD |
|
|
CA1471442 rs770450442 |
1343 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA345369076 rs1260154485 |
1348 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA345369068 rs1399350520 |
1349 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1349 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345369063 rs1395445012 |
1350 | V>M | No |
ClinGen TOPMed |
|
|
rs1196464250 CA345369042 |
1352 | M>I | No |
ClinGen gnomAD |
|
|
CA39744816 rs373053489 |
1352 | M>T | No |
ClinGen ESP TOPMed |
|
|
CA345369017 rs1208032940 |
1356 | A>E | No |
ClinGen gnomAD |
|
|
CA345369022 rs1278961171 COSM906040 |
1356 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA345369018 rs1208032940 |
1356 | A>V | No |
ClinGen gnomAD |
|
|
rs371203298 CA1471439 |
1358 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345368981 rs1304042244 |
1360 | S>C | No |
ClinGen TOPMed |
|
|
CA1471417 rs186277314 |
1361 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1471416 CA345368943 rs111419712 |
1366 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1471413 rs774919716 |
1366 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471414 rs115684254 |
1366 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1471415 rs111419712 |
1366 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs551138097 CA345368925 |
1369 | S>A | No |
ClinGen TOPMed |
|
|
rs551138097 CA39739799 |
1369 | S>P | No |
ClinGen TOPMed |
|
|
rs763890383 CA1471412 |
1372 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1374 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345368876 rs1558181342 |
1376 | V>L | No |
ClinGen Ensembl |
|
|
CA1471410 rs749835165 |
1380 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs777960224 CA1471409 |
1380 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1181430777 CA345368834 |
1382 | V>G | No |
ClinGen gnomAD |
|
|
rs146444485 CA1471408 |
1382 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345368825 rs1401001587 |
1384 | V>M | No |
ClinGen TOPMed |
|
|
CA345368811 rs1319849547 |
1386 | A>T | No |
ClinGen TOPMed |
|
|
CA1471406 rs781325001 |
1386 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1034480375 CA39739748 |
1388 | P>L | No |
ClinGen gnomAD |
|
|
CA345368800 rs1239577278 |
1388 | P>S | No |
ClinGen gnomAD |
|
|
rs143307751 CA345368790 |
1389 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1471401 rs750396656 |
1390 | V>I | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761362908 CA1471399 |
1391 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs142597852 CA1471400 |
1391 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM210459 rs1447872740 CA345368754 |
1395 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 1395 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39739698 rs942617105 |
1397 | P>L | No |
ClinGen Ensembl |
|
|
CA1471393 rs759055188 |
1397 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345368734 rs1253637056 |
1399 | L>F | No |
ClinGen TOPMed |
|
|
CA345368731 rs1392021037 |
1399 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA345368729 rs1392021037 |
1399 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA345368727 rs748240315 |
1400 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748240315 CA1471390 |
1400 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471389 rs781334278 |
1402 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1246533734 CA345368703 |
1404 | D>H | No |
ClinGen TOPMed |
|
|
rs1178856982 CA345368691 |
1405 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs369632116 CA1471388 |
1406 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369632116 CA1471387 |
1406 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779787737 CA1471386 |
1409 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345368667 rs1392049404 |
1410 | K>E | No |
ClinGen gnomAD |
|
|
rs750339435 CA1471384 |
1413 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA345368637 rs1451994016 |
1414 | I>V | No |
ClinGen gnomAD |
|
|
rs1572037160 CA345368631 |
1415 | L>F | No |
ClinGen Ensembl |
|
|
rs1401720044 CA345368617 |
1417 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1174575896 CA345368615 |
1417 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1401720044 CA345368619 |
1417 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA345368604 rs138927825 |
1419 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138927825 CA1471381 |
1419 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345368577 rs763680391 |
1422 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA1471379 rs373830599 |
1423 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373830599 CA39739657 |
1423 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1471378 rs752434671 |
1425 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350839440 CA345368546 |
1427 | T>K | No |
ClinGen gnomAD |
|
|
CA1471376 rs61736343 |
1430 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1438861064 CA345368524 |
1431 | A>V | No |
ClinGen TOPMed |
|
|
rs653737 CA1471374 VAR_049332 |
1433 | Y>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs653737 CA345368513 |
1433 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1392831651 CA345368501 |
1435 | E>G | No |
ClinGen gnomAD |
|
|
CA1471372 rs530429868 |
1435 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs988909957 CA345368474 |
1437 | D>G | No |
ClinGen gnomAD |
|
|
rs988909957 CA39739036 |
1437 | D>V | No |
ClinGen gnomAD |
|
|
CA345368475 rs1339998847 |
1437 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA39739025 rs992253018 |
1440 | L>V | No |
ClinGen TOPMed |
|
|
CA345368442 rs1212509177 |
1442 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA39738965 rs369162017 |
1443 | D>E | No |
ClinGen ESP TOPMed |
|
|
rs868490953 CA39738999 COSM1193461 |
1443 | D>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs868490953 CA39739006 |
1443 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1471357 rs199902201 |
1444 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345368421 rs1375194354 |
1445 | E>D | No |
ClinGen TOPMed |
|
|
CA345368418 rs1558180959 |
1446 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 1449 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1471354 rs777239211 |
1455 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760867644 CA1471352 |
1455 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1471355 rs777239211 |
1455 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471353 rs760867644 |
1455 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1376336041 CA345368341 |
1456 | V>G | No |
ClinGen gnomAD |
|
|
rs1304120983 CA345368335 |
1457 | Q>L | No |
ClinGen gnomAD |
|
|
rs1448273421 CA345368329 |
1458 | H>P | No |
ClinGen gnomAD |
|
|
CA345368328 rs1448273421 |
1458 | H>R | No |
ClinGen gnomAD |
|
|
rs1353513012 CA345368316 |
1460 | I>L | No |
ClinGen gnomAD |
|
|
rs1572036731 CA345368298 |
1462 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 1464 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1471350 rs772217461 |
1464 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471351 rs772217461 |
1464 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778638153 CA1471348 |
1466 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1470 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145126908 CA39738891 |
1471 | L>I | No |
ClinGen ESP TOPMed |
|
|
rs749157445 CA1471346 |
1477 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA39737442 rs202229409 |
1480 | T>N | No |
ClinGen gnomAD |
|
|
rs1012986973 CA39737435 |
1481 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1471332 rs759721801 |
1483 | K>E | No |
ClinGen ExAC TOPMed |
|
|
CA345368138 rs1176997174 |
1484 | A>T | No |
ClinGen gnomAD |
|
|
rs1441816546 CA345368133 |
1484 | A>V | No |
ClinGen gnomAD |
|
|
CA39737410 rs887259459 |
1488 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs774604488 CA345368099 |
1489 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345368092 rs1469602488 COSM1501682 |
1490 | S>I | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1487728140 CA345368064 |
1494 | E>A | No |
ClinGen gnomAD |
|
|
rs1267684304 CA345368041 |
1497 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA39737390 rs772883589 |
1501 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1415821952 CA345368005 |
1502 | V>A | No |
ClinGen TOPMed |
|
|
rs769711703 CA1471327 |
1502 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM680018 CA1471326 rs748116286 |
1503 | E>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 1503 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345367995 rs1377116635 |
1504 | T>A | No |
ClinGen gnomAD |
|
|
CA345367991 rs1302271532 |
1504 | T>I | No |
ClinGen gnomAD |
|
|
rs1302271532 CA345367993 |
1504 | T>N | No |
ClinGen gnomAD |
|
|
CA1471324 rs184859593 |
1508 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345367954 rs1294028344 |
1509 | Q>H | No |
ClinGen gnomAD |
|
|
rs746638530 CA345367945 |
1511 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471323 rs746638530 |
1511 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558180469 CA345367947 |
1511 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs139925165 CA1471322 |
1512 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1421618596 CA345367927 |
1514 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA345367924 rs1215431003 |
1514 | K>T | No |
ClinGen gnomAD |
|
|
CA39737341 rs1036691248 |
1517 | S>L | No |
ClinGen TOPMed |
|
|
rs60654480 CA39737338 |
1518 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 1519 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198430500 CA345367889 |
1520 | F>L | No |
ClinGen gnomAD |
|
|
CA1471319 rs764382158 |
1520 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1052351099 CA39737320 |
1521 | M>T | No |
ClinGen Ensembl |
|
|
CA1471318 rs756566799 |
1522 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345367866 rs1226978844 |
1523 | Q>R | No |
ClinGen TOPMed |
|
|
CA39737301 rs935286118 |
1525 | L>Q | No |
ClinGen Ensembl |
|
|
rs753240557 CA1471317 |
1526 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471315 rs759666486 |
1527 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1206821957 CA345367838 |
1528 | N>S | No |
ClinGen TOPMed |
|
|
CA1471313 rs766555347 |
1530 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs766555347 CA1471314 |
1530 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs761758927 CA1471290 |
1534 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs776704912 CA1471289 |
1535 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1329586617 CA345367766 |
1537 | S>G | No |
ClinGen TOPMed |
|
|
rs202240841 CA1471288 |
1538 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144406835 CA1471287 |
1540 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345367743 rs1314926775 |
1541 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1471286 rs558088674 |
1542 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs978845326 CA39734842 |
1542 | I>T | No |
ClinGen Ensembl |
|
|
rs1404560163 CA345367730 |
1543 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA345367710 rs1303645889 |
1545 | G>V | No |
ClinGen gnomAD |
|
|
CA1471285 rs143058283 |
1548 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745508834 CA1471284 |
1549 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA345367671 rs747825875 |
1549 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1239665403 CA345367664 |
1550 | L>F | No |
ClinGen gnomAD |
|
|
rs201149006 CA39733505 |
1552 | E>G | No |
ClinGen gnomAD |
|
|
CA345367646 rs1447897162 |
1553 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA345367648 rs1447897162 |
1553 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs996901705 CA39733486 |
1554 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs758501854 CA1471258 |
1556 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1471259 rs780485939 |
1556 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1471257 rs745869843 |
1557 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345367622 rs1572033771 |
1558 | I>V | No |
ClinGen Ensembl |
|
|
CA1471256 VAR_049333 rs6661946 |
1559 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345367616 rs1167871951 |
1559 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA345367586 rs1477565601 |
1563 | Q>R | No |
ClinGen gnomAD |
|
|
rs754148431 CA345367576 |
1565 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA1471253 rs763953610 |
1565 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471254 rs754148431 |
1565 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs865968890 CA39733439 |
1566 | E>* | No |
ClinGen Ensembl |
|
|
rs752673708 CA1471251 |
1569 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1569 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs77776078 CA1471250 |
1570 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345367526 rs1412859088 |
1572 | L>F | No |
ClinGen TOPMed |
|
|
rs201834812 CA1471248 |
1574 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1471247 rs374099305 |
1575 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs531736484 CA39733408 |
1575 | K>R | No |
ClinGen Ensembl |
|
|
rs762559378 CA1471246 |
1577 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA39733373 rs984400999 |
1578 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs772902702 CA1471245 |
1578 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471243 rs747400321 COSM210458 |
1579 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs775927959 CA1471242 |
1579 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345367477 rs1267319358 |
1580 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA345367470 rs1447974172 |
1581 | L>R | No |
ClinGen TOPMed |
|
|
rs1280214886 CA345367474 |
1581 | L>V | No |
ClinGen TOPMed |
|
|
CA1471240 rs746403332 |
1582 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1422749115 CA345367444 |
1585 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA345367446 rs1478251909 |
1585 | Y>H | No |
ClinGen gnomAD |
|
|
CA1471237 rs749505335 |
1586 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39733325 rs911587372 |
1586 | D>N | No |
ClinGen Ensembl |
|
|
CA39733323 rs987032753 |
1588 | L>F | No |
ClinGen Ensembl |
|
|
rs756359423 CA1471235 |
1590 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471217 rs141660503 |
1592 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1195565660 CA345367381 |
1593 | A>T | No |
ClinGen TOPMed |
|
|
rs775049727 CA1471216 |
1594 | L>S | No |
ClinGen ExAC |
|
|
CA1471215 rs771127536 |
1599 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs769856164 CA1471212 |
1602 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA345367325 rs1257861054 |
1602 | P>S | No |
ClinGen gnomAD |
|
|
CA345367320 rs1320556324 |
1603 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1604 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1471211 rs748433436 |
1606 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs780817490 CA1471210 |
1608 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39732915 rs935067724 |
1608 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1471209 rs754814133 |
1610 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39732896 rs890221877 |
1611 | P>A | No |
ClinGen TOPMed |
|
|
rs1394760409 CA345367273 |
1611 | P>H | No |
ClinGen TOPMed |
|
|
CA345367274 rs890221877 |
1611 | P>S | No |
ClinGen TOPMed |
|
|
CA39732897 rs890221877 |
1611 | P>T | No |
ClinGen TOPMed |
|
|
CA345367254 rs1366209678 |
1614 | S>C | No |
ClinGen TOPMed |
|
|
rs372362755 CA1471206 |
1616 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs749879063 CA1471205 |
1616 | R>H | Variant assessed as Somatic; 4.631e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1471204 rs571188259 COSM161480 |
1617 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA1471203 rs753570196 |
1617 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753570196 CA1471202 |
1617 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368599342 CA1471201 |
1618 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA39732822 rs760041607 |
1619 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469084427 CA345367231 |
1619 | A>T | No |
ClinGen TOPMed |
|
|
CA1471200 rs760041607 |
1619 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA39732817 rs144518221 |
1621 | D>Y | No |
ClinGen 1000Genomes ESP TOPMed |
|
| TCGA novel | 1624 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1471197 rs375244010 |
1627 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1471195 rs769956169 |
1629 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs115054974 CA1471194 |
1630 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371868580 CA1471193 |
1630 | N>S | No |
ClinGen ESP ExAC |
|
|
CA345367154 rs1175488987 |
1631 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1471192 rs560393274 |
1636 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345367112 rs1291453466 |
1637 | I>V | No |
ClinGen gnomAD |
|
|
CA1471176 rs143980201 |
1640 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1471175 rs143980201 |
1640 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374894422 CA1471174 |
1640 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345367067 rs1317256006 |
1642 | L>P | No |
ClinGen gnomAD |
|
|
CA345367054 rs1300385823 |
1644 | L>P | No |
ClinGen gnomAD |
|
|
CA345367052 rs1384881656 |
1645 | V>I | No |
ClinGen gnomAD |
|
|
CA345367045 rs747254483 |
1646 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471173 rs747254483 |
1646 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771898737 CA1471171 |
1651 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1455577056 CA345367008 |
1652 | V>L | No |
ClinGen gnomAD |
|
|
CA345366998 rs1450099677 |
1653 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs745773701 CA1471170 |
1654 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs16833884 CA1471169 VAR_049334 |
1654 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1047753808 CA39732160 |
1655 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs757143929 CA1471168 |
1658 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA345366937 rs1487670668 |
1662 | E>Q | No |
ClinGen gnomAD |
|
|
CA345366929 rs1260501927 |
1663 | Q>E | No |
ClinGen gnomAD |
|
|
rs1485960193 CA345366911 |
1665 | I>M | No |
ClinGen gnomAD |
|
|
rs777443144 CA1471166 |
1665 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1471165 rs140846433 |
1666 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345366901 rs1230701256 |
1667 | R>K | No |
ClinGen gnomAD |
|
|
rs766828466 CA1471163 |
1669 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs758853810 CA1471162 |
1670 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201522356 CA1471161 |
1670 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs762242781 CA1471159 |
1672 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs776644219 CA1471158 |
1673 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764190523 CA1471157 |
1674 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA345366854 rs1464809426 |
1675 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1679 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1471156 rs768268042 |
1680 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345366815 rs1408837747 |
1680 | N>Y | No |
ClinGen gnomAD |
|
|
rs145196748 CA1471155 |
1681 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1682 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771843600 CA1471154 |
1682 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745745797 CA1471153 |
1685 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774027857 CA1471152 |
1686 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs770851065 CA1471151 |
1687 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1471150 rs61730303 |
1688 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1471149 rs777384144 |
1689 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs978371898 CA39732013 |
1690 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1471148 rs755733796 |
1691 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1471147 rs747788869 |
1693 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA345366732 rs1327119522 |
1694 | N>D | No |
ClinGen gnomAD |
|
|
rs2275689 CA345366729 |
1694 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_010939 CA1471145 rs2275689 |
1694 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs199577251 CA1471144 |
1695 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779168536 CA1471143 |
1696 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA345366716 rs1204014051 |
1697 | V>M | No |
ClinGen gnomAD |
|
|
rs1170160270 CA345366697 |
1700 | I>L | No |
ClinGen gnomAD |
|
|
rs1338324379 CA345366689 |
1701 | A>P | No |
ClinGen TOPMed |
|
|
CA1471139 rs538257249 |
1701 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1471138 rs752915456 |
1702 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs767718178 CA1471137 |
1705 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs767718178 CA345366665 |
1705 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA345366662 rs1217920071 |
1705 | K>T | No |
ClinGen gnomAD |
|
|
rs771356015 CA39731902 |
1706 | E>G | No |
ClinGen Ensembl |
|
| rs781364360 | 1707 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345366623 rs1340153746 |
1710 | V>A | No |
ClinGen gnomAD |
|
|
rs1016008604 CA39731858 |
1712 | G>E | No |
ClinGen Ensembl |
|
|
COSM302356 rs367715127 CA1471132 |
1714 | A>T | central_nervous_system Variant assessed as Somatic; 0.000231 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1471131 rs143495736 |
1714 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768305604 CA1471127 |
1717 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs780863741 CA1471128 |
1717 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1160899832 CA345366582 |
1718 | I>V | No |
ClinGen gnomAD |
|
|
rs1426042385 CA345366572 |
1719 | A>G | No |
ClinGen gnomAD |
|
|
rs746674579 CA1471126 |
1721 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA39731819 rs779306731 |
1724 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780292286 CA39731817 |
1724 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1471125 rs779306731 |
1724 | T>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM311734 rs200302789 CA1471123 |
1727 | A>V | lung Variant assessed as Somatic; 4.626e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP NCI-TCGA TOPMed gnomAD |
|
CA345366519 rs1304964710 |
1729 | A>T | No |
ClinGen TOPMed |
|
|
CA1471120 rs778323422 |
1730 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs940740518 CA39731774 |
1730 | I>T | No |
ClinGen TOPMed |
|
|
rs754332969 CA1471121 |
1730 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA345366500 rs1220258090 |
1732 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs756621877 CA1471119 |
1734 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1474470215 CA345366449 |
1738 | P>A | No |
ClinGen gnomAD |
|
|
CA1471089 rs748413550 |
1738 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1738 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39730906 rs867845140 |
1739 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1471087 rs79408620 |
1741 | L>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA39730901 rs914931018 |
1743 | T>A | No |
ClinGen TOPMed |
|
|
CA1471086 rs760172644 |
1744 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA345366414 rs1558177632 |
1744 | M>R | No |
ClinGen Ensembl |
|
|
rs1324841663 CA345366406 |
1745 | K>R | No |
ClinGen gnomAD |
|
|
rs1257978297 CA345366394 |
1747 | T>P | No |
ClinGen gnomAD |
|
|
rs199987609 CA1471085 |
1748 | S>C | No |
ClinGen 1000Genomes ExAC |
|
|
CA1471082 rs773530434 |
1749 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471083 rs745546689 |
1749 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1465069214 CA345366372 |
1750 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 1753 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345366343 rs1572032254 |
1754 | E>D | No |
ClinGen Ensembl |
|
|
rs1380292702 CA345366346 |
1754 | E>G | No |
ClinGen gnomAD |
|
|
rs1303101968 CA345366350 |
1754 | E>K | No |
ClinGen gnomAD |
|
|
rs1380292702 CA345366345 |
1754 | E>V | No |
ClinGen gnomAD |
|
|
CA1471078 rs781615267 |
1756 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1471079 rs781615267 |
1756 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915546188 CA345366329 |
1757 | L>V | No |
ClinGen gnomAD |
|
|
rs1335760573 CA345366316 |
1759 | S>N | No |
ClinGen TOPMed |
|
|
CA39730862 rs149534672 |
1762 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149534672 CA1471076 |
1762 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345366271 rs1572032228 |
1766 | K>R | No |
ClinGen Ensembl |
|
|
CA39730853 rs991135883 |
1768 | V>A | No |
ClinGen Ensembl |
|
|
rs1472623568 CA345366251 |
1769 | E>G | No |
ClinGen gnomAD |
|
|
rs1572032213 CA345366248 |
1770 | T>P | No |
ClinGen Ensembl |
|
|
CA345366241 rs1185737781 |
1771 | L>V | No |
ClinGen gnomAD |
|
|
CA1471073 rs185953741 |
1772 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758655047 CA1471074 |
1772 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs757179796 CA1471071 |
1773 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA39730813 rs747631529 |
1773 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs763874754 CA345366218 |
1775 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763874754 CA1471069 |
1775 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356741623 CA345366201 |
1777 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345366199 rs1356741623 |
1777 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1471068 rs577396019 |
1778 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs577396019 CA39730759 |
1778 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1021543535 CA39730752 |
1779 | L>R | No |
ClinGen TOPMed |
|
|
rs966901854 CA345366191 |
1779 | L>V | No |
ClinGen gnomAD |
|
|
CA345366177 rs1172186171 |
1781 | G>D | No |
ClinGen gnomAD |
|
|
rs11542406 CA39730742 |
1784 | S>F | No |
ClinGen Ensembl |
|
|
rs767050699 CA1471066 |
1784 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs886805974 CA39729935 |
1786 | V>M | No |
ClinGen TOPMed |
|
|
rs1479151955 CA345365932 |
1787 | I>M | No |
ClinGen gnomAD |
|
|
rs761065481 CA1471041 |
1787 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA345365930 rs1403706215 |
1788 | H>D | No |
ClinGen gnomAD |
|
|
CA345365931 rs1403706215 |
1788 | H>N | No |
ClinGen gnomAD |
|
|
rs776199324 CA345365925 |
1788 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345365927 rs1270494265 |
1788 | H>R | No |
ClinGen gnomAD |
|
|
CA345365921 rs1487723513 |
1789 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 1791 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1471039 rs772276212 |
1792 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1794 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1471037 rs779151020 |
1794 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs771014021 CA1471036 |
1796 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs267598429 CA39729908 |
1796 | M>T | No |
ClinGen Ensembl |
|
|
rs1339013903 CA345365865 |
1797 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1798 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1471035 rs749561310 |
1799 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1324225336 COSM364248 CA345365846 |
1800 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1471032 rs752623367 |
1802 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA39729852 rs898228775 |
1803 | N>D | No |
ClinGen TOPMed |
|
|
rs781039116 CA1471031 |
1803 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA1471030 rs754921244 |
1804 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs900803615 CA39729840 |
1805 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs752629897 CA1471029 |
1805 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765905193 CA1471028 |
1807 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA345365797 rs1199421366 |
1809 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs371729329 CA1471027 |
1810 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1478167017 CA345365785 |
1811 | K>E | No |
ClinGen TOPMed |
|
|
rs750140316 CA1471026 |
1811 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1572031638 CA345365769 |
1813 | L>R | No |
ClinGen Ensembl |
|
|
CA345365772 rs1486071982 |
1813 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA345365765 rs776004580 |
1814 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs761171133 CA1471024 |
1814 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1471023 rs776004580 |
1814 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA345365760 rs772652823 |
1815 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1471022 rs772652823 |
1815 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1263713806 CA345365758 |
1816 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1263713806 CA345365759 |
1816 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA345365751 rs1468817343 |
1817 | L>F | No |
ClinGen TOPMed |
|
|
CA345365742 rs1325980331 |
1818 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1819 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1039419321 CA39729752 |
1820 | R>* | No |
ClinGen TOPMed |
|
|
rs1384201484 CA345365732 |
1820 | R>L | No |
ClinGen gnomAD |
|
|
CA39729733 rs370642722 |
1821 | V>G | No |
ClinGen Ensembl |
|
|
rs774536593 CA1471020 COSM1185797 |
1821 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA345365726 rs1468568189 |
1822 | L>V | No |
ClinGen gnomAD |
|
|
CA345365719 rs1294610250 |
1823 | L>S | No |
ClinGen TOPMed |
|
|
CA39729722 rs910786626 |
1824 | P>S | No |
ClinGen Ensembl |
|
|
rs1461020545 CA345365707 |
1825 | A>G | No |
ClinGen gnomAD |
|
|
CA1471017 rs145363555 |
1825 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345365706 rs1461020545 |
1825 | A>V | No |
ClinGen gnomAD |
|
|
rs933561107 CA39729711 |
1826 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs139348840 CA1471016 |
1827 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1829 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1471015 rs747877876 |
1832 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA345365648 rs1181485480 |
1834 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 1837 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780985866 CA1471014 |
1838 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39729430 rs572297921 |
1839 | N>T | No |
ClinGen 1000Genomes |
|
|
rs1298933572 CA345365587 |
1840 | H>Y | No |
ClinGen TOPMed |
|
|
rs1558176988 CA345365576 |
1841 | M>I | No |
ClinGen Ensembl |
|
|
rs370868615 CA1470996 |
1841 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1470995 rs768488556 |
1842 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1470994 rs375911763 |
1843 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA39729419 rs1010370512 |
1843 | P>S | No |
ClinGen Ensembl |
|
|
CA345365558 CA345365557 rs1331490680 |
1844 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1852 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345365489 rs1252688014 |
1853 | G>A | No |
ClinGen TOPMed |
|
|
CA345365492 rs1204860853 |
1853 | G>R | No |
ClinGen TOPMed |
|
|
CA1470991 rs1885533 VAR_010940 |
1854 | V>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1885533 CA39729372 |
1854 | V>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1885533 CA39729338 |
1854 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201959745 CA1470992 |
1854 | V>M | No |
ClinGen 1000Genomes ExAC |
|
|
CA345365466 rs1365822072 |
1855 | M>I | No |
ClinGen gnomAD |
|
|
CA1470990 rs778311867 |
1856 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs181086746 CA1470989 |
1857 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA39729296 rs892728122 |
1860 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1470988 rs753588336 |
1861 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1470987 rs767975912 |
1862 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1470986 rs755457626 |
1864 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220374257 CA345365337 |
1865 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1865 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410323461 CA345365323 |
1866 | Q>R | No |
ClinGen TOPMed |
|
|
CA1470985 rs751872020 |
1868 | T>A | No |
ClinGen ExAC |
|
|
rs375609616 CA1470983 |
1869 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA345365284 rs1460619830 |
1869 | A>V | No |
ClinGen TOPMed |
|
|
rs1885532 CA345365254 CA345365253 |
1873 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1558176920 CA345365249 |
1874 | A>V | No |
ClinGen Ensembl |
|
|
CA1470979 rs776896499 |
1877 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs149306902 CA1470978 |
1877 | F>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA345365223 rs1382579222 |
1878 | R>Q | No |
ClinGen TOPMed |
|
|
rs1215536758 CA345365218 |
1879 | A>G | No |
ClinGen TOPMed |
|
|
CA345365198 rs1275475348 |
1882 | S>A | No |
ClinGen TOPMed |
|
|
CA39729233 rs113612434 |
1882 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113612434 CA1470976 |
1882 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345365136 rs536014077 |
1885 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1470955 rs536014077 |
1885 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA345365111 rs1174397096 |
1887 | E>K | No |
ClinGen TOPMed |
|
|
rs748746097 CA1470953 |
1891 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA39729029 rs201518919 |
1892 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1470951 rs202009039 |
1894 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA39729016 rs747794433 |
1895 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1470950 rs747794433 |
1895 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201515471 CA1470947 |
1896 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1470948 rs758748046 |
1896 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs371888813 CA1470949 |
1896 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1448743342 CA345364962 |
1897 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1470946 rs531433512 |
1897 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1350741317 CA345364936 |
1899 | C>S | No |
ClinGen TOPMed |
|
|
CA39728969 rs757776342 |
1902 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA1470945 rs757776342 |
1902 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA345364905 rs757776342 |
1902 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA345364895 rs1421855611 |
1903 | M>V | No |
ClinGen gnomAD |
|
|
rs764192480 CA1470943 |
1906 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564113419 CA1470944 |
1906 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1281405216 CA345364846 |
1907 | L>F | No |
ClinGen gnomAD |
|
|
CA345364833 rs1185948772 |
1908 | S>T | No |
ClinGen gnomAD |
|
|
rs1232844834 CA345364820 |
1909 | E>K | No |
ClinGen gnomAD |
|
|
CA1470941 rs752914800 |
1914 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1558176756 CA345364766 |
1915 | L>V | No |
ClinGen Ensembl |
|
|
CA345364757 rs1197496485 |
1916 | F>Y | No |
ClinGen TOPMed |
|
|
CA1470918 rs766238122 |
1921 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1316172426 CA345364695 |
1923 | A>S | No |
ClinGen gnomAD |
|
|
CA1470917 rs763007557 |
1923 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA345364668 rs1382956164 |
1927 | D>A | No |
ClinGen gnomAD |
|
|
COSM123554 CA1470916 rs368602949 |
1927 | D>H | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA39728768 rs937433330 |
1930 | K>E | No |
ClinGen Ensembl |
|
|
rs747790372 CA39728759 |
1931 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1470915 rs764808973 |
1938 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1470914 rs140571212 |
1940 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1941 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345364572 rs1295560317 |
1941 | D>G | No |
ClinGen gnomAD |
|
|
CA39728714 rs1053130829 |
1941 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA345364566 rs1396784356 |
1942 | C>G | No |
ClinGen TOPMed |
|
|
CA1470912 rs530149086 |
1943 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345039209 CA345364554 |
1944 | A>T | No |
ClinGen gnomAD |
|
|
CA345364527 rs1572031065 |
1948 | K>E | No |
ClinGen Ensembl |
|
|
rs1413350615 CA345364516 |
1949 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1198016968 CA345364492 |
1953 | L>V | No |
ClinGen gnomAD |
|
|
CA39728691 rs202084979 |
1955 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1470910 rs780852573 COSM906030 |
1956 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA39728620 rs913131943 |
1960 | K>M | No |
ClinGen Ensembl |
|
|
rs771234251 CA1470909 |
1961 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA345364426 rs1485417606 |
1963 | A>D | No |
ClinGen gnomAD |
|
|
CA1470908 rs749806008 |
1965 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1126627 VAR_010941 CA1470907 |
1967 | N>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345364403 rs1126627 |
1967 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345364395 rs1262459460 |
1968 | Q>E | No |
ClinGen gnomAD |
|
|
rs375302321 CA1470906 |
1968 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345364374 rs1321561173 |
1971 | I>V | No |
ClinGen gnomAD |
|
|
rs1558176567 CA345364364 |
1972 | S>Y | No |
ClinGen Ensembl |
|
|
CA1470904 rs781303735 |
1974 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs193150310 CA345364334 |
1975 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs193150310 CA1470888 |
1975 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1404996491 CA345364314 |
1978 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1979 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781156435 CA1470886 |
1981 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs768724570 CA1470885 |
1982 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA345364281 rs747239592 |
1983 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1470884 rs747239592 |
1983 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA1470883 rs780491577 |
1983 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA39728090 rs767720192 |
1986 | E>G | No |
ClinGen Ensembl |
|
|
rs1425417486 CA345364250 |
1987 | K>R | No |
ClinGen gnomAD |
|
|
rs750291302 CA1470881 |
1989 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs753757381 CA1470878 |
1993 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs760107933 CA1470876 |
1996 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1244238449 CA345364174 |
1998 | C>G | No |
ClinGen gnomAD |
|
|
CA345364165 rs1330695900 |
1999 | L>S | No |
ClinGen TOPMed |
|
|
rs554279956 CA1470875 |
2000 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs377069832 CA39728000 |
2002 | I>V | No |
ClinGen gnomAD |
|
|
CA39727992 rs201968820 |
2004 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201968820 CA1470874 |
2004 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759161350 CA1470873 |
2004 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1470872 rs773482506 |
2005 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA345364125 rs773482506 |
2005 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2005 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759536976 CA39727976 |
2008 | Q>R | No |
ClinGen Ensembl |
|
|
CA345364099 rs1364578060 |
2009 | H>Y | No |
ClinGen gnomAD |
|
|
rs770148279 CA1470871 |
2010 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA345364084 rs1473669843 |
2011 | I>V | No |
ClinGen gnomAD |
|
|
CA1470870 rs142962546 |
2012 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1470869 rs777130681 |
2013 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1470868 rs769281615 |
2013 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1470867 rs747143393 |
2015 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs2275687 VAR_010942 CA1470865 |
2017 | E>G | confirmed at protein level [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs780258588 CA345364043 |
2017 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780258588 CA1470866 |
2017 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474642659 CA345364031 |
2019 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs778592048 CA1470863 |
2020 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266544715 CA345364015 |
2021 | M>V | No |
ClinGen gnomAD |
|
|
rs749182893 CA1470861 |
2023 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1378460333 CA345363748 |
2030 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA39726982 rs868294301 |
2031 | L>R | No |
ClinGen Ensembl |
|
|
CA1470836 rs377007553 |
2032 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377007553 CA39726955 |
2032 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA39726947 rs766115066 |
2034 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535809628 CA1470834 |
2034 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 2035 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754270047 CA1470831 |
2036 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA345363696 rs1572030098 |
2038 | Q>H | No |
ClinGen Ensembl |
|
|
CA345363685 rs1345230897 |
2040 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs764511774 CA1470830 |
2040 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1269248459 CA345363680 |
2041 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM906028 rs370884856 CA1470829 |
2042 | T>A | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA345363673 rs1321128663 |
2042 | T>R | No |
ClinGen gnomAD |
|
|
rs1451759966 CA345363661 |
2044 | H>Y | No |
ClinGen gnomAD |
|
|
CA345363655 rs139022059 |
2045 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1470827 rs139022059 |
2045 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1484107335 CA345363641 |
2047 | P>R | No |
ClinGen TOPMed |
|
|
rs774279258 CA1470825 |
2047 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145985095 CA1470822 |
2050 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345363610 rs1189624247 |
2052 | F>I | No |
ClinGen gnomAD |
|
|
CA1470821 rs571460036 COSM1296037 |
2052 | F>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA39726865 rs904429521 |
2053 | S>L | No |
ClinGen TOPMed |
|
|
rs1236260623 CA345363604 |
2053 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 2055 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345363583 rs1572030032 |
2056 | M>T | No |
ClinGen Ensembl |
|
|
CA345363573 rs1202659903 |
2057 | A>V | No |
ClinGen gnomAD |
|
|
CA1470817 rs560358292 |
2058 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1470816 rs200320031 |
2060 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345363553 rs200320031 |
2060 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1470815 rs149145208 |
2062 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1470814 rs750045686 |
2068 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345363500 rs1450263590 |
2068 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778294435 CA1470813 |
2069 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1279244963 CA345363476 |
2072 | K>R | No |
ClinGen TOPMed |
|
|
rs753104315 CA1470811 |
2073 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1470810 rs200854169 COSM210457 |
2073 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1424446321 CA345363460 |
2075 | D>N | No |
ClinGen gnomAD |
|
|
rs751695334 CA1470808 |
2075 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs763252172 CA345363450 |
2076 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1470806 rs763252172 |
2076 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs6664730 CA1470804 VAR_049335 |
2077 | S>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345363446 rs6664730 |
2077 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345363442 rs1274942821 |
2078 | P>S | No |
ClinGen gnomAD |
|
|
rs776388967 CA1470802 |
2079 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2081 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761992655 CA1470781 |
2081 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs530544216 CA1470780 |
2083 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1470778 rs760672777 |
2087 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1470777 rs563013149 |
2088 | V>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs150966685 CA39723563 |
2089 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA345363354 rs1426862625 |
2090 | A>V | No |
ClinGen gnomAD |
|
|
rs367618061 CA345363353 |
2091 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2093 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773972406 CA1470774 |
2095 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA345363318 rs1210586627 |
2096 | K>R | No |
ClinGen gnomAD |
|
|
CA1470773 rs770743522 |
2097 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748903503 CA1470772 |
2098 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2099 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs977899516 CA39723534 |
2101 | V>I | No |
ClinGen gnomAD |
|
|
CA1470771 rs781633733 |
2104 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs770323233 CA39723487 |
2106 | S>F | No |
ClinGen Ensembl |
|
|
rs1327569859 CA345363230 |
2109 | F>L | No |
ClinGen TOPMed |
|
|
CA345363210 rs1572028364 |
2112 | E>D | No |
ClinGen Ensembl |
|
|
rs1296032739 CA345363205 |
2113 | L>S | No |
ClinGen gnomAD |
|
|
rs752471097 CA1470728 |
2116 | D>E | No |
ClinGen ExAC |
|
|
CA1470730 rs756334857 |
2116 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs756334857 CA1470729 |
2116 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA345363155 rs767378258 |
2117 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA1470726 rs759562725 |
2117 | E>D | No |
ClinGen ExAC |
|
|
rs767378258 CA1470727 |
2117 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs200192734 CA1470725 |
2118 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200192734 CA345363137 |
2118 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1470724 rs766419632 |
2120 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA1470722 rs1553279570 |
2121 | V>E | No |
ClinGen Ensembl |
|
|
CA1470721 rs148413430 |
2123 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA345363042 rs1340543684 |
2124 | Q>H | No |
ClinGen gnomAD |
|
|
rs769374782 CA1470719 |
2129 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA345362921 rs1388482480 |
2132 | L>V | No |
ClinGen TOPMed |
|
|
CA1470717 rs2607 |
2133 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA39722195 rs2607 |
2133 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA345362898 rs1408715279 |
2134 | T>A | No |
ClinGen gnomAD |
|
|
rs997410827 CA39722172 |
2137 | G>E | No |
ClinGen gnomAD |
|
|
rs1328302608 CA345362858 |
2138 | E>Q | No |
ClinGen TOPMed |
|
|
rs573400289 CA39722161 |
2139 | P>A | No |
ClinGen TOPMed |
|
|
CA1470715 rs746378086 |
2140 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs771410489 CA1470713 |
2141 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA39722155 rs771410489 |
2141 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1572026811 CA345362797 |
2142 | S>N | No |
ClinGen Ensembl |
|
|
rs1385865727 CA345362788 |
2142 | S>R | No |
ClinGen TOPMed |
|
|
CA345362778 rs1369016226 |
2143 | Y>C | No |
ClinGen gnomAD |
No associated diseases with Q9H583
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| 90S preribosome | A large ribonucleoprotein complex considered to be the earliest preribosomal complex. In S. cerevisiae, it has a size of 90S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins. |
| fibrillar center | A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| small-subunit processome | A large ribonucleoprotein complex that is an early preribosomal complex. In S. cerevisiae, it has a size of 80S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins. |
| t-UTP complex | A protein complex that forms a subcomplex of the 90S preribosome and is required for the subsequent assembly of the rest of the preribosome. In S. cerevisiae, it is composed of Utp5p, Utp4p, Nan1p, Utp8p, Utp9p, Utp10 and Utp15p. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| snoRNA binding | Binding to a small nucleolar RNA. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule from the pre-rRNA molecule originally produced as a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, 5.8S rRNA, and the Large Subunit (LSU) in that order from 5' to 3' along the primary transcript. |
| positive regulation of rRNA processing | Any process that activates or increases the frequency, rate or extent of rRNA processing. |
| positive regulation of transcription by RNA polymerase I | Any process that activates or increases the frequency, rate or extent of transcription mediated by RNA polymerase I. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTSLAQQLQR | LALPQSDASL | LSRDEVASLL | FDPKEAATID | RDTAFAIGCT | GLEELLGIDP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SFEQFEAPLF | SQLAKTLERS | VQTKAVNKQL | DENISLFLIH | LSPYFLLKPA | QKCLEWLIHR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FHIHLYNQDS | LIACVLPYHE | TRIFVRVIQL | LKINNSKHRW | FWLLPVKQSG | VPLAKGTLIT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HCYKDLGFMD | FICSLVTKSV | KVFAEYPGSS | AQLRVLLAFY | ASTIVSALVA | AEDVSDNIIA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KLFPYIQKGL | KSSLPDYRAA | TYMIICQISV | KVTMENTFVN | SLASQIIKTL | TKIPSLIKDG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LSCLIVLLQR | QKPESLGKKP | FPHLCNVPDL | ITILHGISET | YDVSPLLHYM | LPHLVVSIIH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HVTGEETEGM | DGQIYKRHLE | AILTKISLKN | NLDHLLASLL | FEEYISYSSQ | EEMDSNKVSL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LNEQFLPLIR | LLESKYPRTL | DVVLEEHLKE | IADLKKQELF | HQFVSLSTSG | GKYQFLADSD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TSLMLSLNHP | LAPVRILAMN | HLKKIMKTSK | EGVDESFIKE | AVLARLGDDN | IDVVLSAISA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FEIFKEHFSS | EVTISNLLNL | FQRAELSKNG | EWYEVLKIAA | DILIKEEILS | ENDQLSNQVV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VCLLPFMVIN | NDDTESAEMK | IAIYLSKSGI | CSLHPLLRGW | EEALENVIKS | TKPGKLIGVA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NQKMIELLAD | NINLGDPSSM | LKMVEDLISV | GEEESFNLKQ | KVTFHVILSV | LVSCCSSLKE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| THFPFAIRVF | SLLQKKIKKL | ESVITAVEIP | SEWHIELMLD | RGIPVELWAH | YVEELNSTQR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VAVEDSVFLV | FSLKKFIYAL | KAPKSFPKGD | IWWNPEQLKE | DSRDYLHLLI | GLFEMMLNGA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| DAVHFRVLMK | LFIKVHLEDV | FQLFKFCSVL | WTYGSSLSNP | LNCSVKTVLQ | TQALYVGCAM |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LSSQKTQCKH | QLASISSPVV | TSLLINLGSP | VKEVRRAAIQ | CLQALSGVAS | PFYLIIDHLI |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SKAEEITSDA | AYVIQDLATL | FEELQREKKL | KSHQKLSETL | KNLLSCVYSC | PSYIAKDLMK |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| VLQGVNGEMV | LSQLLPMAEQ | LLEKIQKEPT | AVLKDEAMVL | HLTLGKYNEF | SVSLLNEDPK |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| SLDIFIKAVH | TTKELYAGMP | TIQITALEKI | TKPFFAAISD | EKVQQKLLRM | LFDLLVNCKN |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| SHCAQTVSSV | FKGISVNAEQ | VRIELEPPDK | AKPLGTVQQK | RRQKMQQKKS | QDLESVQEVG |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| GSYWQRVTLI | LELLQHKKKL | RSPQILVPTL | FNLLSRCLEP | LPQEQGNMEY | TKQLILSCLL |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| NICQKLSPDG | GKIPKDILDE | EKFNVELIVQ | CIRLSEMPQT | HHHALLLLGT | VAGIFPDKVL |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| HNIMSIFTFM | GANVMRLDDT | YSFQVINKTV | KMVIPALIQS | DSGDSIEVSR | NVEEIVVKII |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| SVFVDALPHV | PEHRRLPILV | QLVDTLGAEK | FLWILLILLF | EQYVTKTVLA | AAYGEKDAIL |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| EADTEFWFSV | CCEFSVQHQI | QSLMNILQYL | LKLPEEKEET | IPKAVSFNKS | ESQEEMLQVF |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| NVETHTSKQL | RHFKFLSVSF | MSQLLSSNNF | LKKVVESGGP | EILKGLEERL | LETVLGYISA |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| VAQSMERNAD | KLTVKFWRAL | LSKAYDLLDK | VNALLPTETF | IPVIRGLVGN | PLPSVRRKAL |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| DLLNNKLQQN | ISWKKTIVTR | FLKLVPDLLA | IVQRKKKEGE | EEQAINRQTA | LYTLKLLCKN |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| FGAENPDPFV | PVLNTAVKLI | APERKEEKNV | LGSALLCIAE | VTSTLEALAI | PQLPSLMPSL |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| LTTMKNTSEL | VSSEVYLLSA | LAALQKVVET | LPHFISPYLE | GILSQVIHLE | KITSEMGSAS |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| QANIRLTSLK | KTLATTLAPR | VLLPAIKKTY | KQIEKNWKNH | MGPFMSILQE | HIGVMKKEEL |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| TSHQSQLTAF | FLEALDFRAQ | HSENDLEEVG | KTENCIIDCL | VAMVVKLSEV | TFRPLFFKLF |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| DWAKTEDAPK | DRLLTFYNLA | DCIAEKLKGL | FTLFAGHLVK | PFADTLNQVN | ISKTDEAFFD |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| SENDPEKCCL | LLQFILNCLY | KIFLFDTQHF | ISKERAEALM | MPLVDQLENR | LGGEEKFQER |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| VTKHLIPCIA | QFSVAMADDS | LWKPLNYQIL | LKTRDSSPKV | RFAALITVLA | LAEKLKENYI |
| 2110 | 2120 | 2130 | 2140 | ||
| VLLPESIPFL | AELMEDECEE | VEHQCQKTIQ | QLETVLGEPL | QSYF |