O00763
Gene name |
ACACB |
Protein name |
Acetyl-CoA carboxylase 2 |
Names |
ACC-beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:32 |
EC number |
6.4.1.2: Forming carbon-carbon bonds |
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
12 structures for O00763
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DN8 | NMR | - | A | 885-971 | PDB |
| 2HJW | X-ray | 250 A | A | 217-775 | PDB |
| 2KCC | NMR | - | A | 891-965 | PDB |
| 3FF6 | X-ray | 319 A | A/B/C/D | 1693-2450 | PDB |
| 3GID | X-ray | 230 A | A/B | 238-760 | PDB |
| 3GLK | X-ray | 210 A | A | 238-760 | PDB |
| 3JRW | X-ray | 260 A | A | 217-775 | PDB |
| 3JRX | X-ray | 250 A | A | 217-775 | PDB |
| 3TDC | X-ray | 241 A | A | 1690-2445 | PDB |
| 4HQ6 | X-ray | 270 A | A | 217-776 | PDB |
| 5KKN | X-ray | 260 A | B/C | 238-760 | PDB |
| AF-O00763-F1 | Predicted | AlphaFoldDB |
2144 variants for O00763
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2044635183 RCV001291444 |
655 | S>G | Autism spectrum disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757532146 CA6772853 |
2 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA6772854 rs753987065 CA6772855 |
3 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765824239 CA6772856 |
4 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA386459012 rs1160656072 |
4 | L>P | No |
ClinGen gnomAD |
|
|
CA6772858 COSM430281 rs376872449 |
9 | C>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386459042 rs376872449 |
9 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6772859 rs376872449 |
9 | C>Y | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6772860 rs370340277 |
13 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6772861 rs754732999 |
14 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386459070 rs754732999 |
14 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6772862 rs780843060 |
14 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6772863 rs747698774 |
16 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs144316349 CA6772865 |
17 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1292643887 CA386459125 |
20 | L>I | No |
ClinGen TOPMed |
|
|
rs1205070780 CA386459142 |
21 | K>Q | No |
ClinGen TOPMed |
|
|
rs749213609 CA6772867 |
24 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1468809525 CA386459202 |
25 | K>N | No |
ClinGen gnomAD |
|
|
rs770693620 CA6772869 |
27 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6772868 rs770693620 |
27 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197918261 CA386459217 |
27 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 30 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6772872 rs776672844 |
31 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386459327 rs776672844 |
31 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386459397 rs1370263523 |
34 | K>T | No |
ClinGen gnomAD |
|
|
CA6772875 rs750878973 |
35 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766749273 CA6772877 |
36 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766749273 CA386459429 |
36 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386459448 rs1449416193 |
38 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1406432298 CA386459466 |
39 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6772879 rs527664804 |
40 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1593385580 CA386459485 |
40 | N>T | No |
ClinGen Ensembl |
|
|
rs767325347 CA6772880 |
41 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA386459521 rs1393935663 |
42 | I>M | No |
ClinGen gnomAD |
|
|
rs142445607 CA6772881 |
43 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 43 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386459556 rs1217523404 |
45 | Q>E | No |
ClinGen gnomAD |
|
|
rs139767464 RCV000971937 CA6772883 |
45 | Q>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386459574 rs1319943340 |
46 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs531976358 CA6772884 |
47 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA243379632 rs1033644454 |
49 | P>L | No |
ClinGen TOPMed |
|
|
CA386459625 rs1033644454 |
49 | P>Q | No |
ClinGen TOPMed |
|
|
CA243379631 rs905134619 |
49 | P>T | No |
ClinGen gnomAD |
|
|
CA386459670 rs756710601 |
52 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs550116625 CA6772885 |
55 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1475560239 CA386459730 |
56 | E>G | No |
ClinGen gnomAD |
|
|
rs778648797 CA6772886 |
57 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs769946341 COSM1739937 CA6772888 |
58 | P>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs769946341 CA6772889 |
58 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386459763 rs769946341 |
58 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 60 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386459804 rs1593385748 |
61 | N>K | No |
ClinGen Ensembl |
|
|
rs769849813 CA386459808 |
62 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769849813 CA6772891 |
62 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329869338 CA386459829 |
65 | H>R | No |
ClinGen gnomAD |
|
|
CA6772892 rs773226498 |
66 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA386459832 rs1593385776 |
66 | T>P | No |
ClinGen Ensembl |
|
|
CA6772893 rs763514954 |
67 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6772895 rs375344890 |
70 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA243379678 rs866351563 |
71 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 73 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342223412 CA386459924 |
74 | A>P | No |
ClinGen gnomAD |
|
|
rs1342223412 CA386459919 |
74 | A>T | No |
ClinGen gnomAD |
|
|
rs755735357 CA6772899 |
75 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA386459960 rs1261728583 |
76 | P>S | No |
ClinGen TOPMed |
|
|
CA386460022 rs1486134700 |
80 | K>E | No |
ClinGen gnomAD |
|
|
rs753327617 CA6772903 |
82 | P>S | No |
ClinGen ExAC |
|
|
CA6772905 rs778771224 |
84 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs371386144 CA6772908 |
86 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769981426 CA243379727 |
87 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6772910 rs769981426 |
87 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551468976 CA6772909 |
87 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200591816 CA6772913 |
88 | R>Q | Variant assessed as Somatic; 9.243e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs140156252 CA6772912 |
88 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM934694 rs774959869 CA6772914 |
89 | R>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386460221 rs1365446192 |
93 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs767936750 CA6772917 COSM1721422 |
94 | P>L | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1348793127 CA386460279 |
97 | Q>K | No |
ClinGen gnomAD |
|
|
rs763702236 CA6772920 |
99 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753548861 CA6772921 |
100 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs201767549 CA6772923 |
102 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386460357 rs1487797108 |
105 | S>F | No |
ClinGen gnomAD |
|
|
rs758383786 CA6772926 |
109 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6772927 rs758383786 |
109 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 116 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347990740 CA386460440 |
118 | N>S | No |
ClinGen gnomAD |
|
|
rs771068523 CA6772932 |
119 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205894206 CA386460478 |
124 | G>D | No |
ClinGen TOPMed |
|
|
CA386460475 rs1365009684 |
124 | G>S | No |
ClinGen gnomAD |
|
|
rs951672585 CA243379831 |
125 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs149916132 CA386460491 |
126 | E>D | No |
ClinGen ESP TOPMed |
|
|
rs1353133373 CA386460486 |
126 | E>Q | No |
ClinGen gnomAD |
|
|
rs1224349958 CA386460512 |
128 | T>A | No |
ClinGen gnomAD |
|
|
CA386460529 rs1289244176 |
129 | D>Y | No |
ClinGen gnomAD |
|
|
CA6772934 rs746364518 |
130 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6772935 rs145000590 |
130 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386460634 rs1254232341 |
136 | S>A | No |
ClinGen gnomAD |
|
|
CA6772936 rs149092322 |
137 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769094389 CA6772938 |
138 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs760897574 CA6772937 |
138 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA6772939 rs776077835 |
139 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs761464809 CA6772940 |
140 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA243379860 rs1002257498 |
141 | G>S | No |
ClinGen TOPMed |
|
|
rs1593386365 CA386460728 |
142 | Q>* | No |
ClinGen Ensembl |
|
|
CA6772942 rs201076011 |
142 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1165537149 CA386460789 |
145 | G>D | No |
ClinGen gnomAD |
|
|
rs766355541 CA6772944 |
148 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1337686177 CA386460846 |
149 | K>E | No |
ClinGen gnomAD |
|
|
CA386460881 rs1443197697 |
151 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 152 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386461054 rs1274313088 |
160 | Q>* | No |
ClinGen gnomAD |
|
|
CA386461114 rs754691654 |
162 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6772947 rs754691654 |
162 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6772948 rs577730043 |
164 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1275558780 CA386461161 |
165 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1389153480 CA386461180 |
166 | I>V | No |
ClinGen gnomAD |
|
|
CA386461222 rs1438828145 |
169 | S>P | No |
ClinGen gnomAD |
|
|
CA386461257 rs1186389914 |
171 | D>E | No |
ClinGen gnomAD |
|
|
CA386461262 rs1475886067 |
172 | D>G | No |
ClinGen gnomAD |
|
|
rs1235433928 CA386461260 |
172 | D>Y | No |
ClinGen gnomAD |
|
|
CA6772950 rs757611160 |
173 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs753949478 CA6772949 |
173 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386461266 rs753949478 |
173 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6772951 rs200440063 |
174 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386461274 rs1308392719 |
174 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6772953 rs772298957 |
176 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6772954 rs772298957 |
176 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6772957 rs777108289 |
177 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6772956 rs199642143 |
177 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416647816 CA386461314 |
178 | D>H | No |
ClinGen gnomAD |
|
|
CA386461374 rs1340381824 |
181 | A>V | No |
ClinGen gnomAD |
|
|
CA243379928 rs961248756 |
182 | G>D | No |
ClinGen TOPMed |
|
|
CA386461377 rs1217336608 |
182 | G>S | No |
ClinGen gnomAD |
|
|
CA386461403 rs1340472855 |
183 | S>L | No |
ClinGen gnomAD |
|
|
CA6772960 COSM1358576 rs772690862 |
185 | R>C | biliary_tract Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs147024369 CA6772961 |
185 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6772962 rs147024369 |
185 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1593386710 CA386461456 |
187 | S>P | No |
ClinGen Ensembl |
|
|
rs1486454889 CA386461469 |
188 | T>P | No |
ClinGen gnomAD |
|
|
CA6772963 rs118018469 |
189 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243379937 rs997993423 |
189 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA386461497 rs1476587747 |
190 | K>E | No |
ClinGen gnomAD |
|
|
CA6772965 rs201599513 |
191 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386461535 rs1319263037 |
192 | S>C | No |
ClinGen TOPMed |
|
|
CA386461538 rs1424041266 |
192 | S>I | No |
ClinGen TOPMed |
|
|
CA386461550 rs1477550372 |
193 | R>G | No |
ClinGen TOPMed gnomAD |
|
| VAR_062667 | 193 | R>L | a pancreatic ductal adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA6772966 rs767203808 |
193 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477550372 CA386461552 |
193 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA386461572 rs752604541 |
194 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373806485 CA386461566 |
194 | A>T | No |
ClinGen gnomAD |
|
|
rs752604541 CA6772967 |
194 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 198 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6772968 rs757531247 |
198 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 198 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386461642 rs1320815668 |
201 | L>P | No |
ClinGen gnomAD |
|
|
rs1252666278 CA386461646 |
202 | E>K | No |
ClinGen gnomAD |
|
|
CA6772970 rs750704133 |
204 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386461797 rs1242302544 |
208 | G>R | No |
ClinGen TOPMed |
|
|
rs780194137 CA6772972 |
211 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6772971 rs191751311 |
211 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1234550776 CA386461908 |
212 | T>N | No |
ClinGen gnomAD |
|
|
COSM1510762 rs747456016 CA6772973 |
213 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs560908915 CA6772974 |
213 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs373214045 COSM934695 CA6772976 |
214 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1450979137 CA386462006 |
216 | T>A | No |
ClinGen gnomAD |
|
|
CA6772977 rs770169502 |
217 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 218 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386466972 rs1434094294 |
218 | R>S | No |
ClinGen TOPMed |
|
|
CA6772993 rs17848820 |
219 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 220 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386467029 rs1397361680 |
221 | M>T | No |
ClinGen gnomAD |
|
|
rs778125313 CA6772995 |
221 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6772996 rs748928594 |
222 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA243394205 rs373292549 |
223 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA243394207 rs373292549 |
223 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA243394214 rs527512063 |
224 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6772998 rs527512063 |
224 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745333353 CA6772999 |
225 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs775499731 CA6773001 |
227 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs760700219 CA6773002 |
229 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768555581 CA243394263 |
229 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA386467176 rs528602761 |
231 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs776631835 CA6773004 COSM200736 |
231 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA243394266 rs528602761 |
231 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6773005 rs141887668 |
234 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs990499643 CA243394301 |
236 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 237 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386467340 rs1565880437 |
239 | H>R | No |
ClinGen Ensembl |
|
|
CA386467389 rs1193892503 |
241 | D>E | No |
ClinGen TOPMed |
|
|
CA386467373 rs1185924009 |
241 | D>N | No |
ClinGen gnomAD |
|
|
rs1457087688 CA386467403 |
242 | F>V | No |
ClinGen TOPMed |
|
|
CA386467431 rs1437884886 |
244 | V>A | No |
ClinGen TOPMed |
|
|
COSM1181495 CA6773010 rs753146594 |
244 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1565880484 CA386467441 |
245 | A>V | No |
ClinGen Ensembl |
|
|
CA6773011 rs756674820 |
247 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs781314104 CA6773014 |
248 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781314104 CA6773013 |
248 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778588229 CA6773015 |
249 | E>G | No |
ClinGen ExAC |
|
|
CA6773017 rs745510148 |
250 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1593448395 CA386467493 |
250 | F>V | No |
ClinGen Ensembl |
|
|
rs771552176 CA6773018 |
252 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs149394526 CA6773020 |
253 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs149394526 CA386467528 |
253 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6773021 rs146370716 |
253 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768750072 CA6773022 |
254 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA6773025 rs146426104 |
255 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146426104 CA6773024 |
255 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386467556 rs1376532694 |
255 | G>W | No |
ClinGen TOPMed |
|
|
rs774568250 CA6773027 |
256 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM117329 CA386467564 rs1355122797 |
256 | G>R | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| rs768607691 | 257 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768607691 | 257 | D>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243394499 rs998573576 |
257 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA386467570 rs998573576 |
257 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6773029 rs144515904 |
258 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs759694366 CA6773028 |
258 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs146179662 CA6773031 |
261 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780584088 CA6773059 |
263 | V>G | No |
ClinGen ExAC gnomAD |
|
|
COSM3687937 CA6773058 rs754475585 |
263 | V>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1211963744 CA386467645 |
267 | N>T | No |
ClinGen TOPMed |
|
|
CA6773062 rs533919628 |
269 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533919628 CA243395395 |
269 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6773063 rs749130358 |
271 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1252965239 CA386467671 |
271 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749130358 CA243395410 |
271 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs775622765 CA6773065 |
272 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773067 rs768707560 |
273 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776640811 CA6773068 |
275 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA386467700 rs1164093227 |
276 | M>L | No |
ClinGen gnomAD |
|
|
rs368005004 CA6773069 |
276 | M>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs370590640 CA6773070 |
277 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM278567 CA6773071 rs773787420 |
277 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs763366636 CA6773072 |
278 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6773073 rs763366636 |
278 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1460449551 CA386467723 |
280 | R>C | No |
ClinGen TOPMed |
|
|
rs754737585 CA6773075 |
280 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs754737585 CA6773076 |
280 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1375580583 CA386467735 |
282 | W>* | No |
ClinGen gnomAD |
|
|
rs1187424946 CA386467741 |
283 | A>T | No |
ClinGen gnomAD |
|
|
CA386467751 rs1224433870 |
284 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 285 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386467782 rs1215870490 |
288 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6773080 rs777523810 |
288 | R>H | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA243395557 rs150967404 |
289 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM223588 rs756987109 CA6773082 |
290 | E>K | Variant assessed as Somatic; 0.0 impact. skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs778738335 CA6773083 |
291 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386467800 rs1268082822 |
291 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1479984413 CA386467805 |
292 | A>D | No |
ClinGen TOPMed |
|
|
CA6773084 rs747227529 |
292 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA386467809 rs1277382971 |
293 | I>V | No |
ClinGen TOPMed |
|
|
CA6773086 rs781305786 |
294 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144382279 CA6773085 |
294 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs990365203 CA243395589 |
298 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1408035343 CA386467842 |
298 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386467839 rs1395471639 |
298 | M>V | No |
ClinGen gnomAD |
|
|
rs1442947187 CA386467849 |
299 | V>A | No |
ClinGen gnomAD |
|
|
CA6773088 rs573637382 |
299 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6773089 rs573637382 |
299 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386467859 rs1292751431 |
301 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs763571331 CA6773090 |
302 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763571331 CA386467864 |
302 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243395665 rs774926883 |
303 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773092 rs774926883 |
303 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386467876 rs1172028568 |
304 | L>F | No |
ClinGen TOPMed |
|
|
CA243395696 rs201630101 |
305 | K>M | No |
ClinGen Ensembl |
|
|
CA6773093 rs759233676 |
305 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1274617682 CA386467891 |
306 | A>D | No |
ClinGen gnomAD |
|
|
CA6773094 rs767124185 |
307 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78715638 CA6773096 |
308 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs763672231 CA6773097 |
308 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA386468992 rs1173214456 |
309 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386469029 rs1436610572 |
313 | M>I | No |
ClinGen gnomAD |
|
|
rs746301361 CA243401965 |
314 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6773113 rs545842213 |
315 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA243401974 rs996330530 |
317 | Y>H | No |
ClinGen Ensembl |
|
|
rs1429113872 CA386469098 |
318 | V>A | No |
ClinGen TOPMed |
|
|
CA386469093 rs372405230 |
318 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6773115 rs372405230 |
318 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1174715821 CA386469105 |
319 | P>S | No |
ClinGen TOPMed |
|
|
CA6773117 COSM1946166 rs189283811 |
320 | V>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1300739181 CA386469134 |
321 | P>R | No |
ClinGen gnomAD |
|
|
rs1176157643 CA386469146 |
322 | G>E | No |
ClinGen TOPMed |
|
|
CA386469182 rs1239447082 |
325 | N>H | No |
ClinGen TOPMed |
|
|
CA6773119 rs750388902 |
325 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243402023 rs985802557 |
327 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs963075043 CA243402024 |
329 | Y>C | No |
ClinGen Ensembl |
|
|
rs201273973 CA6773123 |
331 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6773121 rs766213742 |
331 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6773124 rs777972630 |
332 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749429433 CA6773125 |
333 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223408099 CA386469350 |
335 | I>T | No |
ClinGen TOPMed |
|
|
CA6773126 rs757435011 |
336 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA243402041 rs779523944 |
337 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs917086257 CA243402046 |
338 | I>T | No |
ClinGen Ensembl |
|
|
rs1390044511 CA386469394 |
338 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 342 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305911149 CA386469498 |
344 | V>E | No |
ClinGen gnomAD |
|
|
CA6773131 rs138145479 |
344 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746611312 CA6773132 |
345 | Q>H | No |
ClinGen ExAC gnomAD |
|
| rs575445770 | 346 | A>= | Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753447548 CA6773142 |
346 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773141 rs753447548 |
346 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1593462666 CA386469609 |
347 | V>G | No |
ClinGen Ensembl |
|
|
rs754146596 CA6773144 |
347 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 348 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 349 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386469630 rs1207644249 |
349 | A>T | No |
ClinGen gnomAD |
|
|
CA6773146 rs757340908 |
349 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 350 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386469686 rs1485413114 |
352 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA386469754 rs1424711229 |
356 | E>G | No |
ClinGen gnomAD |
|
|
CA386469828 rs1434187370 |
358 | P>R | No |
ClinGen gnomAD |
|
|
rs1370918967 CA386469869 COSM242767 |
360 | L>F | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6773149 rs199655635 |
361 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200334384 CA243402351 |
361 | P>S | No |
ClinGen 1000Genomes |
|
|
CA6773151 rs780259117 |
364 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA386469953 rs780259117 |
364 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769036400 CA6773153 |
365 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747346637 CA6773152 |
365 | C>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 366 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251195640 CA386470074 |
370 | A>S | No |
ClinGen TOPMed |
|
|
rs770380543 CA6773177 |
374 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs774280400 CA6773178 |
376 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA386470634 rs1189642865 |
379 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 380 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6773180 rs149147459 |
380 | W>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6773185 rs561181524 |
387 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA386470809 rs1346927261 |
388 | S>P | No |
ClinGen gnomAD |
|
|
CA386470834 rs1188879747 |
389 | T>I | No |
ClinGen TOPMed |
|
|
CA6773189 rs550167301 |
390 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377615413 CA6773191 COSM3739412 |
392 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1206962294 CA386470892 |
393 | Q>R | No |
ClinGen TOPMed |
|
|
rs376114199 CA6773193 |
394 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370777901 CA6773195 |
396 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201859471 CA6773196 |
396 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1272945595 CA386470955 |
397 | V>A | No |
ClinGen gnomAD |
|
|
CA386471048 rs1246950867 |
402 | W>* | No |
ClinGen gnomAD |
|
|
rs947797808 CA243403528 |
402 | W>* | No |
ClinGen TOPMed |
|
|
rs772184272 CA6773199 |
403 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs775589806 CA6773200 |
404 | G>* | No |
ClinGen ExAC gnomAD |
|
| rs148317452 | 405 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6773202 rs771971405 |
406 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746953280 CA6773219 |
409 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA386472468 rs1157144715 |
409 | V>M | No |
ClinGen TOPMed |
|
|
rs1285141316 CA386472531 |
411 | W>R | No |
ClinGen gnomAD |
|
|
rs1458519738 CA386472610 |
412 | T>R | No |
ClinGen TOPMed |
|
|
CA386472645 rs1358903417 |
413 | E>D | No |
ClinGen gnomAD |
|
|
rs1412305833 CA386472650 |
414 | D>N | No |
ClinGen TOPMed |
|
|
rs1041691571 CA243404776 |
419 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6773220 rs537194068 |
419 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386472876 rs1209564809 |
420 | K>R | No |
ClinGen gnomAD |
|
|
CA6773222 rs749497970 |
421 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA386472899 rs749497970 |
421 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs146350192 CA243404784 |
421 | R>S | No |
ClinGen ESP |
|
|
CA386472959 rs1473972441 |
423 | S>I | No |
ClinGen TOPMed |
|
|
CA386473078 rs1188165889 |
426 | E>D | No |
ClinGen TOPMed |
|
|
CA243404794 rs930121684 |
426 | E>Q | No |
ClinGen Ensembl |
|
|
rs1241276662 CA386473119 |
429 | Y>H | No |
ClinGen gnomAD |
|
|
CA6773224 rs774582095 |
430 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774582095 CA243404807 |
430 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386473203 rs1173106019 |
432 | G>D | No |
ClinGen gnomAD |
|
|
rs751113525 CA6773228 |
434 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs751113525 CA6773227 |
434 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6773229 rs764516576 |
435 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs184816447 CA6773230 |
436 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201786970 CA6773231 |
437 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs12826842 CA243404847 |
438 | D>N | No |
ClinGen Ensembl |
|
|
CA386473312 rs1365475858 |
439 | E>A | No |
ClinGen gnomAD |
|
|
rs1232845435 CA386473318 |
439 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1346563177 CA386473327 |
440 | G>A | No |
ClinGen gnomAD |
|
|
rs764942932 CA6773232 |
440 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 443 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386473558 rs1593471913 |
447 | I>T | No |
ClinGen Ensembl |
|
|
rs1268989078 CA386473577 |
448 | G>A | No |
ClinGen TOPMed |
|
|
CA386473566 rs1338800693 |
448 | G>S | No |
ClinGen TOPMed |
|
|
CA386473620 rs1325577547 |
451 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA386473644 rs1265560616 |
452 | M>I | No |
ClinGen gnomAD |
|
|
CA6773258 rs780956007 |
452 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs752688339 CA6773259 |
453 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386473665 rs1162438692 |
454 | K>E | No |
ClinGen gnomAD |
|
|
CA6773260 rs755845802 |
455 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA386473730 rs1471886738 |
456 | S>Y | No |
ClinGen gnomAD |
|
|
CA6773264 CA6773265 rs780343613 |
460 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6773267 rs776945727 |
461 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6773269 rs762436207 |
462 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770275246 CA6773270 |
464 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146160862 CA6773272 |
465 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6773271 rs146160862 |
465 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1230117884 CA386473912 |
465 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 466 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766083485 CA6773273 |
468 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6773274 rs751259499 |
469 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA386474066 rs758908393 |
470 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6773275 rs758908393 |
470 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6773276 rs202035669 |
470 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756114866 CA6773278 |
471 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA243405121 rs1040911903 |
471 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777515316 CA6773279 |
474 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437383134 CA386474265 |
475 | I>V | No |
ClinGen TOPMed |
|
|
CA6773281 rs757072944 COSM1746723 |
477 | F>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1475048593 CA386474348 |
477 | F>S | No |
ClinGen gnomAD |
|
|
CA386474363 rs1593472320 |
478 | R>G | No |
ClinGen Ensembl |
|
|
rs780070984 CA6773282 |
478 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA386474416 rs747264955 |
479 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6773283 rs747264955 |
479 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1454356092 CA386474735 |
480 | V>I | No |
ClinGen TOPMed |
|
|
rs1374378198 CA386474764 |
481 | Q>L | No |
ClinGen gnomAD |
|
|
rs1034665502 CA243406989 |
482 | S>G | No |
ClinGen Ensembl |
|
|
CA386474785 rs1464475497 |
482 | S>N | No |
ClinGen gnomAD |
|
|
rs1162220161 CA386474808 |
483 | E>K | No |
ClinGen TOPMed |
|
|
CA6773296 rs760586285 |
484 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA386474858 rs1379567547 |
485 | P>S | No |
ClinGen gnomAD |
|
|
CA6773297 rs763977187 |
487 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275438984 CA386474927 |
488 | P>L | No |
ClinGen gnomAD |
|
|
CA6773299 rs756985067 |
488 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6773301 rs751726366 |
489 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781109291 CA386476063 |
492 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139024189 CA6773304 |
492 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6773303 rs781109291 |
492 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 493 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 493 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386476089 rs1245756599 |
493 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 498 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6773306 rs143885746 |
498 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243407146 rs978164597 |
499 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201408408 CA6773307 |
499 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386476190 rs1359678433 |
500 | H>R | No |
ClinGen gnomAD |
|
|
rs1318285669 CA386476289 |
506 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 506 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6773309 rs574173923 |
507 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386476334 rs1298675443 |
509 | Q>* | No |
ClinGen gnomAD |
|
|
CA243407165 rs771809689 CA6773311 |
509 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745482115 CA6773310 |
509 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1344891763 CA386476406 |
513 | A>T | No |
ClinGen TOPMed |
|
|
rs1266617876 CA386476426 |
514 | V>E | No |
ClinGen gnomAD |
|
|
CA386476422 rs1228379160 |
514 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 516 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243407188 rs199948166 |
518 | G>D | No |
ClinGen Ensembl |
|
|
rs754977294 CA6773315 |
519 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs754977294 CA6773316 |
519 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA386476497 rs1487182342 |
519 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs764908876 CA386476498 |
520 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs764908876 CA6773318 |
520 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1593478913 CA386476509 |
521 | C>Y | No |
ClinGen Ensembl |
|
|
CA6773320 rs750279555 |
522 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758149057 CA6773321 |
523 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs756205551 CA6773324 |
525 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6773322 rs767740857 |
525 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs778057425 CA6773325 |
526 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386476535 rs1170701780 |
526 | R>W | No |
ClinGen TOPMed |
|
|
rs757826653 CA6773328 |
531 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757826653 CA386476583 |
531 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746197448 CA6773330 |
532 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772324658 CA6773331 |
534 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs779621331 COSM1639026 CA6773332 |
535 | P>L | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1593479109 CA386476693 |
538 | I>L | No |
ClinGen Ensembl |
|
|
CA243407289 rs147821902 |
539 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA6773336 rs776158563 |
540 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs769720984 CA6773338 |
542 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773052620 CA386476769 |
543 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs773052620 CA6773339 |
543 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 544 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762744729 CA6773340 |
545 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386476835 rs766291285 |
547 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773341 rs766291285 |
547 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409307195 CA386476858 |
548 | E>Q | No |
ClinGen gnomAD |
|
|
CA6773356 rs16940029 VAR_031255 |
552 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6773357 rs374758183 |
553 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376035720 CA6773358 |
553 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376035720 CA243407895 |
553 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1038693489 CA243407902 |
556 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1362080629 CA386477151 |
557 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6773360 rs556775153 |
558 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1475796328 CA386477210 |
560 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs370344183 CA6773361 |
561 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386477271 rs1593481254 |
562 | S>N | No |
ClinGen Ensembl |
|
|
rs754041618 CA6773362 |
563 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765287680 CA6773364 |
566 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA386477404 rs1565893525 |
567 | E>G | No |
ClinGen Ensembl |
|
|
rs1593481322 CA386477413 |
568 | Y>S | No |
ClinGen Ensembl |
|
|
CA6773365 rs145285048 |
570 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243407971 rs188194445 |
572 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6773366 rs188194445 |
572 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780374696 CA6773367 |
572 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 574 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386477715 rs1219811843 |
576 | F>C | No |
ClinGen gnomAD |
|
|
CA386477745 rs1232696084 |
578 | F>L | No |
ClinGen gnomAD |
|
|
CA386477771 rs1267228825 CA386477768 |
578 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs140894897 CA6773370 |
584 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1250169428 CA386477902 COSM1244059 |
584 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1250169428 CA386477904 |
584 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1198270225 CA386477967 |
587 | V>G | No |
ClinGen gnomAD |
|
|
rs191387263 CA243408018 |
588 | E>V | No |
ClinGen 1000Genomes |
|
|
CA386478045 rs1376050338 |
590 | P>L | No |
ClinGen gnomAD |
|
|
rs1479286702 CA386478053 |
591 | C>S | No |
ClinGen gnomAD |
|
|
rs755638623 CA6773372 |
592 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6773374 rs749219076 |
594 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA6773375 rs771044060 |
596 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA386478206 rs11065772 |
597 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200954726 CA386478213 |
598 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200954726 CA6773377 COSM934714 |
598 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1321011420 CA386478228 |
599 | N>S | No |
ClinGen gnomAD |
|
|
rs776895831 CA6773379 |
601 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773380 rs776895831 |
601 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375366307 CA6773383 |
603 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1181496 CA6773382 rs375366307 |
603 | A>T | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386478277 rs1270188084 |
603 | A>V | No |
ClinGen gnomAD |
|
|
rs766830119 CA6773384 |
604 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1351654628 CA386478280 |
604 | Q>K | No |
ClinGen gnomAD |
|
|
rs1490132544 CA386478287 |
604 | Q>R | No |
ClinGen TOPMed |
|
|
rs1251763163 CA386478304 |
606 | Q>* | No |
ClinGen gnomAD |
|
|
rs748376417 CA6773398 |
608 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773399 rs540118947 |
610 | G>D | No |
ClinGen 1000Genomes ExAC |
|
|
CA386478812 rs1188331811 |
610 | G>R | No |
ClinGen TOPMed |
|
|
rs567060031 CA6773402 |
611 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762951275 CA6773401 |
611 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386478827 rs1401173668 |
612 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 612 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386478846 rs1394100325 |
614 | H>Y | No |
ClinGen gnomAD |
|
|
rs1389218832 CA386478857 |
615 | R>Q | No |
ClinGen gnomAD |
|
|
CA6773403 COSM77199 rs145713657 |
615 | R>W | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1247062162 CA386478870 |
617 | K>E | No |
ClinGen gnomAD |
|
|
CA243412726 rs978350193 |
619 | I>T | No |
ClinGen Ensembl |
|
|
CA386478901 rs1207186713 |
620 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs753053412 CA6773406 |
620 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140603461 CA6773407 |
624 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202162559 CA386478945 |
625 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA6773410 rs202162559 |
625 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs989626934 CA243412757 |
625 | E>V | No |
ClinGen Ensembl |
|
|
CA386478959 rs1238219120 |
626 | S>P | No |
ClinGen gnomAD |
|
|
rs1444863810 CA386478980 |
628 | W>* | No |
ClinGen gnomAD |
|
|
rs1444863810 CA386478983 |
628 | W>L | No |
ClinGen gnomAD |
|
|
CA386478978 rs1308853674 |
628 | W>R | No |
ClinGen gnomAD |
|
|
rs1363004243 CA386478992 |
629 | G>R | No |
ClinGen TOPMed |
|
|
CA386478998 rs1187581386 |
630 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1450816537 CA386479040 |
634 | S>Y | No |
ClinGen gnomAD |
|
|
CA386479060 rs1393480967 |
636 | E>Q | No |
ClinGen TOPMed |
|
|
rs1593495402 CA386479071 |
637 | T>P | No |
ClinGen Ensembl |
|
|
rs778629713 CA6773413 |
638 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6773414 rs750352442 |
640 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA386479103 rs750352442 |
640 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA386479129 rs1403882575 |
643 | L>F | No |
ClinGen TOPMed |
|
|
CA6773416 rs111403940 COSM1358578 |
644 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6773418 rs142989070 |
645 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386479153 rs142989070 |
645 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6773419 rs202062595 |
645 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372168822 CA386479164 |
646 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6773421 rs372168822 |
646 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372168822 CA6773420 |
646 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386479173 rs1239449209 |
647 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773903038 CA386479175 |
647 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386479172 rs1239449209 |
647 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386479182 rs1265349355 |
648 | V>D | No |
ClinGen gnomAD |
|
|
rs376760625 CA6773424 |
648 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776099794 CA6773425 |
649 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs2300455 CA386479207 |
651 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6773427 VAR_031256 rs2300455 |
651 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs753532997 CA6773428 |
652 | R>G | No |
ClinGen ExAC |
|
|
CA386479219 rs1486523139 |
652 | R>K | No |
ClinGen gnomAD |
|
|
CA243412898 rs894138200 |
658 | P>A | No |
ClinGen TOPMed |
|
|
CA6773432 COSM278568 rs757955756 |
660 | E>K | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA243418402 rs907874044 |
664 | P>L | No |
ClinGen TOPMed |
|
|
rs747449313 CA6773460 |
667 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1288744010 CA386479960 |
668 | T>I | No |
ClinGen gnomAD |
|
|
CA6773462 rs777305943 |
669 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772984491 CA6773465 |
675 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202216589 CA6773464 |
675 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373217436 CA6773466 |
677 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765777312 CA6773467 |
677 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6773472 rs755847339 |
680 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs201520813 CA6773471 |
680 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201520813 CA6773470 |
680 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386480269 rs1262624309 |
686 | V>L | No |
ClinGen TOPMed |
|
|
CA386480285 rs1283180486 |
687 | A>D | No |
ClinGen gnomAD |
|
|
CA386480301 rs1315104452 |
688 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 688 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386480296 rs1247806490 |
688 | A>T | No |
ClinGen gnomAD |
|
|
rs747068694 CA6773478 |
690 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209175525 CA386480350 |
692 | L>Q | No |
ClinGen gnomAD |
|
|
rs748721206 CA386480380 |
694 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773481 rs748721206 |
694 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773482 rs770277458 |
695 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386480404 rs1423483752 |
695 | F>Y | No |
ClinGen TOPMed |
|
|
rs1165405300 CA386480416 |
696 | A>T | No |
ClinGen TOPMed |
|
|
CA6773483 rs773666938 COSM351951 |
696 | A>V | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1422290007 CA386480464 |
698 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6773486 rs773907696 |
701 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771586214 CA6773488 |
708 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1225546821 CA386480587 |
710 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1225546821 CA386480584 |
710 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6773489 rs201035398 |
710 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6773490 rs760676161 |
712 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339974206 CA386480614 |
713 | A>T | No |
ClinGen gnomAD |
|
|
CA386480633 rs1484045330 |
714 | I>N | No |
ClinGen gnomAD |
|
|
CA386480626 rs1593502488 |
714 | I>V | No |
ClinGen Ensembl |
|
|
rs753617014 COSM1181494 CA6773492 |
715 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386481527 rs1464071620 |
717 | M>I | No |
ClinGen gnomAD |
|
|
CA386481532 rs1333818588 |
718 | V>A | No |
ClinGen gnomAD |
|
|
CA386481530 rs1287459385 |
718 | V>L | No |
ClinGen gnomAD |
|
|
rs778605951 CA243421077 |
720 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA386481544 rs1281526262 |
720 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1281526262 CA386481547 |
720 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1565904663 CA386481613 |
724 | L>P | No |
ClinGen Ensembl |
|
|
rs1410441808 CA386481630 |
725 | S>F | No |
ClinGen TOPMed |
|
|
rs1018207163 CA243421112 COSM1181487 |
727 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6773535 rs562094257 |
727 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs761608576 CA386481726 |
731 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761608576 CA6773538 |
731 | R>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6773539 rs764997444 |
731 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA386481744 rs1364034009 |
732 | T>I | No |
ClinGen gnomAD |
|
|
rs1565904738 CA386481755 |
733 | T>S | No |
ClinGen Ensembl |
|
|
CA6773542 rs145001704 |
734 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6773541 rs145001704 |
734 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA607601123 rs1425202455 |
736 | Y>* | No |
ClinGen gnomAD |
|
|
rs1483652086 CA386481831 |
738 | I>F | No |
ClinGen TOPMed |
|
|
rs1307369571 CA386481860 |
740 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1307369571 CA386481858 |
740 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386481897 rs1338339371 |
742 | E>D | No |
ClinGen gnomAD |
|
|
rs1394021305 CA386481903 |
743 | T>S | No |
ClinGen gnomAD |
|
|
rs967160470 CA243421181 |
744 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1331067133 CA386481928 |
745 | S>N | No |
ClinGen gnomAD |
|
|
rs756295416 CA6773544 |
747 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA386481964 rs1361743300 |
750 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1251272751 COSM1628361 CA386481973 |
751 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs757630628 CA6773547 |
752 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745491556 CA386481993 CA6773549 |
754 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 754 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386482005 rs1386512707 |
755 | W>C | No |
ClinGen gnomAD |
|
|
CA386482010 rs1565904901 |
756 | L>W | No |
ClinGen Ensembl |
|
|
rs1444752611 CA386482014 |
757 | D>Y | No |
ClinGen gnomAD |
|
|
CA243421279 rs1012906544 |
762 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6773551 rs779707974 |
763 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1371276453 CA386482062 |
764 | V>M | No |
ClinGen gnomAD |
|
|
CA243421288 rs1025233099 |
765 | Q>H | No |
ClinGen Ensembl |
|
|
CA386482072 rs1463512497 |
765 | Q>R | No |
ClinGen gnomAD |
|
|
CA6773570 rs754505331 |
766 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773572 rs372425748 |
769 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6773574 rs372425748 |
769 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6773573 rs372425748 |
769 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1021514420 CA243421440 |
770 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6773576 rs542111056 |
770 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs760875080 CA6773578 |
772 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6773577 rs775845125 |
772 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs761980605 CA6773581 |
774 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761980605 CA386482137 |
774 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199632157 CA6773580 |
774 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294083236 CA386482141 |
775 | V>L | No |
ClinGen gnomAD |
|
|
rs1369095847 CA386482148 |
776 | V>A | No |
ClinGen gnomAD |
|
|
rs770255172 CA6773582 |
776 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 777 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6773584 rs375473600 |
778 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs766795247 CA6773585 |
778 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA386482164 rs1365496868 |
779 | A>D | No |
ClinGen gnomAD |
|
|
CA6773586 rs751179466 |
779 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA386482180 rs776023628 |
781 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773588 rs142240913 |
782 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs539307430 CA243421487 COSM3398314 |
783 | A>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs757403439 CA243421498 |
784 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs368443757 CA6773592 |
784 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368443757 CA6773591 |
784 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200732483 CA243421511 |
785 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773593 rs770847703 |
785 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200732483 CA6773594 |
785 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA243421514 rs371618576 |
786 | M>V | No |
ClinGen TOPMed |
|
|
CA243421517 rs941660768 |
789 | T>A | No |
ClinGen TOPMed |
|
|
CA243421519 rs749816455 |
789 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6773596 rs749816455 |
789 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176768494 CA386482228 |
790 | C>S | No |
ClinGen gnomAD |
|
|
CA386482233 rs1406084359 |
790 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs769916189 CA6773599 |
793 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1322885982 CA386482258 |
794 | F>L | No |
ClinGen TOPMed |
|
|
rs763489136 CA6773601 |
796 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489474249 CA386482330 |
798 | L>Q | No |
ClinGen gnomAD |
|
|
rs1305507948 CA386482342 |
799 | E>* | No |
ClinGen gnomAD |
|
|
rs1366539512 CA386482345 |
799 | E>V | No |
ClinGen gnomAD |
|
|
rs1024779023 CA243422790 |
803 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs759763354 CA6773622 |
805 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 805 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6773626 rs763677490 |
810 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs145681259 CA243422866 |
813 | V>A | No |
ClinGen ESP gnomAD |
|
|
CA6773627 rs367805487 |
813 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6773628 rs371701828 |
814 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1185482040 CA386482645 |
814 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 814 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778653268 CA6773629 |
815 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1185309598 CA386482654 |
816 | E>* | No |
ClinGen gnomAD |
|
|
rs779935990 CA6773632 |
820 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM934724 CA6773631 rs550603462 |
820 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs748293791 CA6773633 |
821 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA386482694 rs748293791 |
821 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs762516264 CA243422887 |
822 | V>F | No |
ClinGen Ensembl |
|
|
CA386482715 rs1172072857 |
823 | K>R | No |
ClinGen TOPMed |
|
|
CA386482741 rs1470792649 |
825 | I>V | No |
ClinGen gnomAD |
|
|
CA386482762 rs1334217412 |
827 | K>E | No |
ClinGen gnomAD |
|
|
rs747315043 CA6773663 |
828 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA386483470 rs1180739442 |
829 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1236640081 CA386483480 |
829 | A>V | No |
ClinGen gnomAD |
|
|
rs769197510 CA6773664 |
830 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1291454767 CA386483484 |
830 | R>W | No |
ClinGen TOPMed |
|
|
rs1163625872 CA386483504 |
831 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1174190986 CA386483524 |
832 | S>F | No |
ClinGen TOPMed |
|
|
rs1435081011 CA386483541 |
834 | T>A | No |
ClinGen TOPMed |
|
|
rs776415103 CA6773665 |
834 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17848802 CA6773666 |
835 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6773668 rs772727257 |
837 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA386483659 rs1490950801 |
840 | M>T | No |
ClinGen gnomAD |
|
|
rs1593529067 CA386483692 |
842 | G>A | No |
ClinGen Ensembl |
|
|
CA6773671 rs771700854 |
843 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs754754767 CA6773672 |
843 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6773673 rs767367796 |
845 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570024928 CA243426358 |
845 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs371416586 CA6773675 |
846 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367133950 CA386483724 |
847 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1367133950 CA386483725 |
847 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779029093 CA6773676 |
849 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386483736 rs779029093 |
849 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1328002586 CA386483744 |
850 | H>P | No |
ClinGen gnomAD |
|
|
CA243426381 rs367885804 |
851 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6773679 rs780689830 |
851 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6773678 rs367885804 |
851 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386483784 rs1593529253 |
857 | L>I | No |
ClinGen Ensembl |
|
|
rs1210793795 CA386483796 |
859 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386483811 rs1183598692 |
861 | Y>C | No |
ClinGen gnomAD |
|
|
CA386483807 rs1435684013 |
861 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1435684013 CA386483809 |
861 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs748481689 CA6773684 |
862 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA386483837 rs1441879635 |
865 | S>G | No |
ClinGen gnomAD |
|
|
CA386483851 rs1304331497 |
866 | Y>* | No |
ClinGen TOPMed |
|
|
rs1458408808 CA386483865 |
869 | Y>H | No |
ClinGen gnomAD |
|
|
CA386483876 rs1381853025 |
870 | M>T | No |
ClinGen gnomAD |
|
|
rs772744233 CA6773686 |
875 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA386483921 rs1158195178 |
876 | S>N | No |
ClinGen TOPMed |
|
|
rs778064707 CA6773722 |
878 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs755846803 COSM934725 CA243428669 |
878 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1009799722 CA243428683 |
882 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386484338 rs745338655 |
883 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6773726 rs745338655 |
883 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA6773727 rs201708270 |
883 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775472026 CA6773729 |
885 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6773733 rs761707822 |
886 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs766670302 CA6773734 |
889 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA386484444 rs1217315017 |
889 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 890 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345000403 CA386484458 |
890 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 893 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759667024 CA6773736 |
893 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6773737 rs138636393 |
895 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 896 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6773740 rs764674504 |
899 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 901 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243428772 rs375290298 |
901 | S>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1295989616 CA386484650 |
902 | A>G | No |
ClinGen TOPMed |
|
|
CA386484653 rs1403511025 |
903 | G>R | No |
ClinGen gnomAD |
|
|
rs745564909 CA6773744 |
906 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6773745 rs757903127 |
907 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA243428837 rs910765182 |
909 | T>A | No |
ClinGen Ensembl |
|
|
CA386484727 rs1304206625 |
909 | T>I | No |
ClinGen gnomAD |
|
|
rs779492116 CA6773746 |
911 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6773747 rs746545179 |
913 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs747905047 CA386484790 |
915 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386484806 rs1565913509 |
916 | V>A | No |
ClinGen Ensembl |
|
|
CA386484797 rs1247107221 |
916 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386484816 rs1488915679 |
917 | E>K | No |
ClinGen gnomAD |
|
|
CA6773751 rs769761227 |
918 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs966180894 CA243428873 |
918 | A>V | No |
ClinGen Ensembl |
|
|
rs1159716906 CA386484861 |
921 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1159716906 CA386484862 |
921 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1250054732 CA386484873 |
923 | A>T | No |
ClinGen TOPMed |
|
|
rs1404168033 CA386484893 |
925 | M>I | No |
ClinGen gnomAD |
|
|
CA386484888 rs1357834405 |
925 | M>V | No |
ClinGen Ensembl |
|
|
rs373683126 CA6773754 |
926 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 929 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6773780 rs763408635 |
930 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA386485263 rs1262536501 |
932 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6773781 rs370837345 |
933 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751276030 CA6773782 |
934 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6773783 rs754415842 |
935 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773785 rs752667004 |
936 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6773786 rs375016692 |
937 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386485369 rs1477914359 |
938 | E>G | No |
ClinGen gnomAD |
|
|
CA386485360 rs1426293977 |
938 | E>K | No |
ClinGen gnomAD |
|
|
CA6773787 rs777855927 |
939 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs144385811 CA6773789 CA6773788 |
939 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3398315 CA6773791 rs747291562 |
941 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6773790 rs780115048 |
941 | R>W | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776638245 CA6773793 |
946 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773794 rs373882930 |
947 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6773796 rs181685208 |
947 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs181685208 CA6773795 |
947 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA243430376 rs373882930 |
947 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6773797 rs376816430 |
949 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1593541717 CA386485539 |
949 | G>V | No |
ClinGen Ensembl |
|
|
rs1342890033 CA386485557 |
951 | V>L | No |
ClinGen gnomAD |
|
|
CA386485583 rs1279471517 |
953 | E>K | No |
ClinGen gnomAD |
|
|
CA386486172 rs1371962054 |
954 | A>S | No |
ClinGen gnomAD |
|
|
rs767290540 CA6773802 |
954 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147358100 CA6773805 |
957 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6773804 rs147358100 |
957 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001812397 rs139511102 CA6773806 |
958 | V>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA243430430 rs1050222575 |
960 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs143533866 CA6773807 |
960 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140972865 CA6773809 |
963 | L>I | No |
ClinGen 1000Genomes ExAC |
|
|
CA6773812 rs748180603 |
964 | D>E | No |
ClinGen ExAC gnomAD |
|
|
RCV000994971 rs150559547 CA6773811 |
964 | D>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs374059185 CA6773813 |
965 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386486316 rs1329530168 |
965 | D>G | No |
ClinGen gnomAD |
|
|
CA243430460 rs1051038480 |
968 | K>N | No |
ClinGen Ensembl |
|
|
CA386486340 rs1350083088 |
969 | V>F | No |
ClinGen gnomAD |
|
|
rs749872855 CA6773815 |
969 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs201086081 CA6773816 |
970 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773818 rs759824633 |
971 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759824633 CA6773819 |
971 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773817 COSM1706242 rs774719378 |
971 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| rs1413183436 | 972 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386460508 rs1369912084 |
972 | A>G | No |
ClinGen gnomAD |
|
|
CA386460504 rs544990923 |
972 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6773838 rs544990923 |
972 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1369912084 CA386460509 |
972 | A>V | No |
ClinGen gnomAD |
|
|
CA6773839 rs768264013 |
974 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM394946 rs768264013 CA386460530 |
974 | P>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1030324410 CA243389294 |
976 | T>I | No |
ClinGen Ensembl |
|
|
CA386460590 rs1473163729 |
980 | P>S | No |
ClinGen TOPMed |
|
|
rs765175424 CA6773843 COSM1510758 |
982 | Q>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6773844 rs750379973 |
983 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs949345193 CA243389332 |
985 | L>P | No |
ClinGen TOPMed |
|
|
rs536491553 CA243389334 |
986 | P>S | No |
ClinGen TOPMed |
|
|
rs536491553 CA386460649 |
986 | P>T | No |
ClinGen TOPMed |
|
|
rs752903306 CA6773847 |
987 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 989 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770852910 CA6773848 |
989 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773849 rs144642580 |
990 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA243389348 rs776789021 |
992 | L>P | No |
ClinGen Ensembl |
|
|
CA386460734 rs1333998714 |
994 | Q>H | No |
ClinGen TOPMed |
|
|
rs753913766 CA6773850 |
995 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs572071754 CA6773852 |
999 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA243389360 rs201793928 |
1002 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1442998693 CA386460824 |
1003 | L>F | No |
ClinGen gnomAD |
|
|
rs772558737 CA6773854 |
1004 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs938035930 CA243389389 |
1005 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM1639027 CA6773857 rs768386735 |
1006 | V>I | Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM546188 CA6773860 rs769231625 |
1007 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 1007 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761367358 CA6773859 |
1007 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1008 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773198261 CA6773861 |
1008 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1425900342 CA386460895 |
1010 | F>L | No |
ClinGen TOPMed |
|
|
CA243389449 rs888561348 |
1011 | C>R | No |
ClinGen TOPMed |
|
|
CA6773862 rs762938664 |
1011 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1013 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6773865 rs759357613 |
1016 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1278455426 CA386460983 |
1018 | S>N | No |
ClinGen gnomAD |
|
|
rs1381309570 CA386461000 |
1019 | I>M | No |
ClinGen gnomAD |
|
|
rs764328291 CA6773866 |
1020 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA386461731 rs1177813039 |
1024 | W>C | No |
ClinGen TOPMed |
|
|
rs1378984891 CA386461727 |
1024 | W>S | No |
ClinGen gnomAD |
|
|
CA386461798 rs1483232601 |
1028 | L>V | No |
ClinGen TOPMed |
|
|
CA386461828 rs1319706956 |
1029 | M>I | No |
ClinGen gnomAD |
|
|
CA386461811 rs1288823399 |
1029 | M>V | No |
ClinGen gnomAD |
|
|
CA386461845 rs1219572920 |
1030 | M>I | No |
ClinGen gnomAD |
|
|
CA386461863 rs1241814191 |
1031 | T>I | No |
ClinGen TOPMed |
|
|
rs1593566807 CA386461858 |
1031 | T>P | No |
ClinGen Ensembl |
|
|
CA386461877 rs1593566844 |
1032 | L>P | No |
ClinGen Ensembl |
|
|
COSM1165898 rs761995492 CA6773888 |
1033 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM3772242 CA6773887 rs776904109 |
1033 | R>W | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1593566913 CA386461902 |
1034 | H>P | No |
ClinGen Ensembl |
|
|
rs1198051357 CA386461909 |
1034 | H>Q | No |
ClinGen gnomAD |
|
|
rs750458750 CA6773890 |
1035 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6773889 rs765506891 |
1035 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs752155886 CA6773893 |
1038 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453204864 CA386462028 |
1042 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 1042 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243391397 rs893134672 |
1043 | Q>* | No |
ClinGen TOPMed |
|
|
rs893134672 CA243391383 |
1043 | Q>K | No |
ClinGen TOPMed |
|
|
CA386462041 rs1464816657 |
1043 | Q>R | No |
ClinGen gnomAD |
|
|
CA386462077 rs1383997643 |
1044 | E>D | No |
ClinGen TOPMed |
|
|
CA386462060 rs1423303041 |
1044 | E>K | No |
ClinGen TOPMed |
|
|
CA386462122 rs1392365429 |
1047 | T>A | No |
ClinGen gnomAD |
|
|
rs755368659 CA6773894 |
1047 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386462130 rs1447338267 |
1048 | S>G | No |
ClinGen gnomAD |
|
|
CA243391410 rs781468323 |
1048 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447338267 CA386462129 |
1048 | S>R | No |
ClinGen gnomAD |
|
|
rs553109112 CA6773896 |
1049 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553109112 COSM1244061 CA386462136 |
1049 | V>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6773897 rs376848216 |
1050 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229815938 CA386462142 |
1050 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1335695943 CA386462149 |
1051 | G>D | No |
ClinGen gnomAD |
|
|
CA6773898 rs777435824 |
1052 | R>C | Variant assessed as Somatic; 4.73e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6773899 rs748746665 |
1054 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA243391457 rs61934316 |
1055 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6773901 rs373113364 |
1055 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6773902 rs61934316 |
1055 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1482603356 CA386462198 |
1056 | P>H | No |
ClinGen gnomAD |
|
|
CA386462227 rs1593567438 |
1058 | E>G | No |
ClinGen Ensembl |
|
|
CA386462250 rs1246655754 |
1060 | S>T | No |
ClinGen TOPMed |
|
|
rs1183932981 CA386462263 |
1061 | V>D | No |
ClinGen gnomAD |
|
|
rs372040414 CA6773903 |
1062 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6773904 rs775085787 |
1062 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775085787 CA6773905 |
1062 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386462271 rs1410025561 |
1063 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 1063 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386462281 rs1593567571 |
1064 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1065 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1066 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1067 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773620750 CA6773907 |
1068 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs763097067 CA6773908 |
1070 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141278003 CA6773909 |
1072 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1593567645 CA386462339 |
1073 | T>P | No |
ClinGen Ensembl |
|
|
rs376684937 CA386462348 |
1074 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6773911 rs376684937 |
1074 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768076267 CA6773912 |
1075 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1077 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386462363 rs1457534140 |
1077 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 1078 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752965758 CA6773913 |
1080 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs954256087 CA243391569 |
1081 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6773914 rs756522714 |
1083 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs376285991 CA6773915 |
1083 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386462877 rs1190675259 |
1085 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386462879 rs1420652647 |
1086 | T>A | No |
ClinGen TOPMed |
|
|
CA386462907 rs1182887923 |
1090 | C>Y | No |
ClinGen TOPMed |
|
|
rs151299707 CA6773934 |
1091 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386462983 rs369101174 |
1097 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6773936 rs369101174 |
1097 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6773935 rs778538004 |
1097 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs757945449 CA6773937 |
1101 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA243395693 rs905355339 |
1101 | R>L | No |
ClinGen TOPMed |
|
|
rs779827964 CA6773938 |
1102 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs747037918 CA6773939 COSM158837 |
1103 | V>I | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6773941 rs768562087 |
1105 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6773940 rs768562087 |
1105 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA386463099 rs1311860104 |
1106 | I>M | No |
ClinGen gnomAD |
|
|
rs747961113 CA6773942 |
1106 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1351851277 CA386463111 |
1107 | N>S | No |
ClinGen gnomAD |
|
|
rs771240116 CA6773943 |
1108 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA386463118 rs1381258524 |
1108 | T>P | No |
ClinGen TOPMed |
|
|
rs759510702 CA6773945 |
1109 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs772231098 CA6773946 |
1110 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs373495005 CA6773948 |
1112 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754130864 CA6773950 |
1113 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764594952 CA6773949 |
1113 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs762193492 CA6773951 |
1114 | L>S | No |
ClinGen ExAC gnomAD |
|
|
COSM691354 CA386463217 rs1384434815 |
1116 | Q>* | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs764817905 CA6773952 |
1117 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs150478780 CA6773965 |
1119 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6773966 rs376968963 |
1119 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765703397 CA6773969 |
1121 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773970 rs138522645 |
1122 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6773971 rs762611929 |
1123 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765956673 CA6773972 |
1123 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386463963 rs1255975590 |
1124 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
COSM287177 CA6773974 rs567554237 |
1124 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1565935782 CA386463976 |
1125 | Y>C | No |
ClinGen Ensembl |
|
|
rs767542059 CA6773975 COSM3792155 |
1126 | M>V | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 1130 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386464014 rs1368571140 |
1130 | V>M | No |
ClinGen TOPMed |
|
|
CA243398378 rs867570382 |
1136 | R>G | No |
ClinGen Ensembl |
|
|
rs1228931233 CA386464060 |
1137 | Y>H | No |
ClinGen gnomAD |
|
|
rs777681543 CA6773979 |
1139 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs758575862 CA6773982 |
1139 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773981 rs758575862 |
1139 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6773980 rs777681543 |
1139 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA386464086 rs1198693226 |
1141 | E>G | No |
ClinGen gnomAD |
|
|
rs1192740349 CA386464126 |
1146 | Q>L | No |
ClinGen gnomAD |
|
|
CA386464130 rs1565935939 |
1147 | A>T | No |
ClinGen Ensembl |
|
|
rs1344122684 CA386464154 |
1148 | H>Q | No |
ClinGen TOPMed |
|
|
rs1434765559 CA386464151 |
1148 | H>R | No |
ClinGen TOPMed |
|
|
rs771242906 CA6774012 CA6774010 |
1149 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386464155 rs1565936150 |
1149 | Y>D | No |
ClinGen Ensembl |
|
|
rs146920013 COSM1322022 CA6774013 |
1150 | D>N | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs146920013 CA386464162 |
1150 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200543599 CA386464175 |
1151 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1565936208 CA386464177 |
1152 | C>R | No |
ClinGen Ensembl |
|
|
CA243398565 rs994372838 |
1153 | V>M | No |
ClinGen gnomAD |
|
|
rs760130044 CA6774015 |
1154 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6774016 rs200668190 |
1154 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6774017 rs753766230 |
1159 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1261520626 CA386464227 |
1159 | Q>P | No |
ClinGen gnomAD |
|
|
CA386464242 rs1211864636 |
1161 | K>T | No |
ClinGen gnomAD |
|
|
CA243398597 rs149482651 |
1162 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6774018 rs761635431 |
1163 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386464260 rs1213696969 |
1164 | M>L | No |
ClinGen TOPMed |
|
|
rs1483598910 CA386464262 |
1164 | M>T | No |
ClinGen TOPMed |
|
|
CA6774019 rs765078219 |
1166 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750235294 CA6774020 |
1167 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6774022 rs781428706 |
1169 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774023 rs752773911 |
1170 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs756198206 CA6774024 |
1172 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243398608 rs1005596879 |
1173 | S>A | No |
ClinGen gnomAD |
|
|
rs1023312890 CA243398613 |
1173 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 1175 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs969688290 CA243398618 |
1175 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1295008109 CA386464333 |
1175 | A>V | No |
ClinGen TOPMed |
|
|
CA6774025 rs184066600 |
1177 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243398620 rs184066600 |
1177 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386464354 rs1375521964 |
1179 | K>E | No |
ClinGen gnomAD |
|
|
CA386464357 rs1224128465 |
1179 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6774027 rs372095862 |
1180 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6774026 rs372095862 |
1180 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6774029 rs539224114 |
1186 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs866468688 CA243398628 |
1186 | M>K | No |
ClinGen TOPMed |
|
|
rs866468688 CA386464403 |
1186 | M>T | No |
ClinGen TOPMed |
|
|
CA6774028 rs779361484 |
1186 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs771810361 CA6774030 |
1187 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs775299699 CA6774031 |
1188 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA386464418 rs1198153672 |
1188 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA386465327 rs1309731039 |
1190 | E>K | No |
ClinGen gnomAD |
|
|
CA6774048 rs746182542 |
1191 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA386465340 rs375330223 |
1192 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6774050 rs375330223 |
1192 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243401919 rs746703562 |
1194 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA243401942 rs776001518 |
1194 | P>R | No |
ClinGen Ensembl |
|
|
rs746703562 CA6774052 |
1194 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1593619573 CA386465358 |
1195 | D>A | No |
ClinGen Ensembl |
|
|
rs768370789 CA6774053 |
1195 | D>N | No |
ClinGen ExAC |
|
|
CA386465369 rs1184239234 |
1197 | S>P | No |
ClinGen gnomAD |
|
|
rs1300418762 CA386465375 |
1198 | L>P | No |
ClinGen TOPMed |
|
|
rs368193601 CA6774054 |
1198 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs763388361 CA6774055 |
1199 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA386465385 rs1358635617 |
1200 | D>Y | No |
ClinGen TOPMed |
|
|
rs146250483 CA6774058 |
1201 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369575164 CA6774059 |
1203 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386465411 rs1356312009 |
1204 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1356312009 CA386465409 |
1204 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6774060 rs775770446 |
1206 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1206 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775770446 CA386465422 |
1206 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760748409 CA6774061 |
1207 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1208 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757434963 CA6774064 |
1208 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs774642233 CA6774063 |
1208 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774066 rs144155916 |
1210 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386465448 rs1213433006 |
1210 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs758828359 CA6774067 |
1211 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs758828359 CA386465455 |
1211 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA386465482 rs1213215559 |
1215 | S>N | No |
ClinGen gnomAD |
|
|
CA6774070 rs754548594 |
1216 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs193086924 CA6774069 |
1216 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1224691339 CA386465505 |
1218 | C>S | No |
ClinGen gnomAD |
|
|
CA6774073 rs769337328 |
1220 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243402062 rs866344256 |
1221 | A>V | No |
ClinGen Ensembl |
|
|
rs773133189 CA6774074 |
1222 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6774076 rs371796559 |
1223 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373323478 CA6774077 |
1223 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1347235133 CA386465540 |
1224 | A>G | No |
ClinGen gnomAD |
|
|
rs1347235133 CA386465541 |
1224 | A>V | No |
ClinGen gnomAD |
|
|
CA386465544 rs762060491 |
1225 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs762060491 CA243402071 |
1225 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6774078 rs759403747 |
1225 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386465629 rs1396378667 |
1228 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1390189451 CA386465654 |
1229 | I>M | No |
ClinGen gnomAD |
|
|
rs759818869 CA6774106 |
1231 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA386465694 rs1593621126 |
1232 | H>P | No |
ClinGen Ensembl |
|
|
CA386465689 rs1336728209 |
1232 | H>Y | No |
ClinGen gnomAD |
|
|
CA386465721 rs1336580479 |
1234 | P>L | No |
ClinGen gnomAD |
|
|
rs755699505 CA6774109 |
1235 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs777432178 CA6774110 |
1236 | Y>C | No |
ClinGen ExAC |
|
|
CA6774112 rs778737669 |
1237 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA243402302 rs965439360 |
1239 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs367785362 CA6774113 |
1239 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6774114 rs371205831 |
1240 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771749905 CA6774115 |
1243 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs943818474 CA243402321 |
1244 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA386465857 rs1399524267 |
1244 | E>V | No |
ClinGen TOPMed |
|
|
CA386465867 rs1372608762 |
1245 | S>A | No |
ClinGen gnomAD |
|
|
CA6774117 rs746832888 |
1245 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1170161442 CA386465885 |
1246 | I>M | No |
ClinGen gnomAD |
|
|
rs1373229262 CA386465948 |
1251 | I>S | No |
ClinGen TOPMed |
|
|
rs368475621 CA243402329 |
1251 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1281617397 CA386465978 |
1253 | M>T | No |
ClinGen gnomAD |
|
|
rs770093451 CA386466003 |
1254 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA386465993 rs1434483100 |
1254 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA386466007 rs566751207 |
1255 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1255 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6774119 rs566751207 |
1255 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386466028 rs749297152 |
1256 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423463022 CA386466024 |
1256 | H>R | No |
ClinGen TOPMed |
|
|
RCV000949786 CA6774121 rs146002202 |
1257 | Q>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs374625291 CA6774122 |
1259 | C>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA243402346 rs932552749 |
1260 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA386466076 rs1229048378 |
1260 | P>S | No |
ClinGen gnomAD |
|
|
CA6774123 rs760033014 |
1261 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1266 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745423076 CA243403088 |
1267 | I>L | No |
ClinGen gnomAD |
|
|
rs1248750694 CA386466281 |
1268 | L>P | No |
ClinGen gnomAD |
|
|
rs369724495 CA6774140 |
1269 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771075563 CA6774139 |
1269 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs760992843 CA6774144 |
1275 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA386466323 rs1361682154 |
1275 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs764509094 CA6774145 |
1276 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6774146 rs776133087 |
1278 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6774147 rs201850400 |
1279 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149793040 CA6774148 |
1282 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386466367 rs1327824066 |
1282 | Y>H | No |
ClinGen gnomAD |
|
|
CA6774149 rs749901306 |
1283 | H>N | No |
ClinGen ExAC |
|
|
CA386466376 rs1390574769 |
1283 | H>R | No |
ClinGen gnomAD |
|
|
rs567861529 CA6774151 |
1284 | A>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA243403151 rs567861529 |
1284 | A>T | No |
ClinGen 1000Genomes TOPMed |
|
|
CA386466386 rs1315304117 |
1285 | N>H | No |
ClinGen gnomAD |
|
|
rs1353111195 CA386466393 |
1286 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1268778982 CA386466398 |
1286 | K>N | No |
ClinGen gnomAD |
|
|
CA6774153 rs766389079 |
1286 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1032749170 CA243403171 |
1287 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs754810954 CA6774155 |
1288 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781080304 CA6774156 |
1290 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386466428 rs1248897552 |
1291 | A>E | No |
ClinGen gnomAD |
|
|
CA6774159 rs779023143 |
1292 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6774160 rs745935779 |
1292 | S>Y | No |
ClinGen ExAC |
|
|
CA386466769 rs1216543819 |
1297 | V>A | No |
ClinGen gnomAD |
|
|
rs769110318 CA386466763 |
1297 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs769110318 CA6774181 |
1297 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs372460687 CA6774183 |
1298 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781600908 CA386466774 |
1298 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212587259 CA386466784 |
1299 | R>K | No |
ClinGen gnomAD |
|
|
CA6774184 rs138720409 |
1299 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1211371912 CA386466799 |
1300 | G>D | No |
ClinGen gnomAD |
|
|
CA386466812 rs1474789751 |
1301 | Y>C | No |
ClinGen gnomAD |
|
|
CA386466810 rs1474789751 |
1301 | Y>S | No |
ClinGen gnomAD |
|
|
CA386466823 rs772906903 |
1302 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774185 rs772906903 |
1302 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201010974 CA6774187 |
1303 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759142692 CA6774189 |
1304 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773962004 CA6774188 |
1304 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs76165721 CA243405870 |
1307 | N>T | No |
ClinGen Ensembl |
|
|
rs370089652 CA386466948 |
1312 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763849845 CA386466954 |
1312 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774193 rs763849845 |
1312 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370089652 CA6774192 |
1312 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386466958 rs1476143440 |
1313 | Q>E | No |
ClinGen gnomAD |
|
|
rs1328049549 CA386466979 |
1314 | L>F | No |
ClinGen TOPMed |
|
|
rs752132829 CA243405895 |
1315 | P>L | No |
ClinGen gnomAD |
|
|
CA386467021 rs60293430 |
1317 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6774196 rs60293430 |
1317 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755091102 CA243405944 |
1318 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774198 rs755091102 |
1318 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774199 rs781720922 |
1319 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6774201 rs376807259 |
1320 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs547866870 CA6774202 |
1321 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386467113 rs565341019 |
1323 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565341019 CA6774203 |
1323 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6774204 rs770661460 |
1324 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs962217558 CA243405992 |
1325 | F>L | No |
ClinGen Ensembl |
|
|
COSM934731 CA6774205 rs774198876 |
1328 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1388208166 CA386467235 |
1329 | S>Y | No |
ClinGen TOPMed |
|
|
rs760471189 CA6774209 |
1334 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775480453 CA6774208 |
1334 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440536152 CA386467926 |
1335 | M>I | No |
ClinGen gnomAD |
|
|
rs371118054 CA6774232 |
1337 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6774233 rs759610928 |
1338 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA386467961 rs1336806065 |
1341 | I>V | No |
ClinGen gnomAD |
|
|
CA6774234 rs767816226 |
1343 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271953515 CA386467977 |
1343 | N>I | No |
ClinGen gnomAD |
|
|
rs371889237 CA243410755 |
1346 | L>P | No |
ClinGen Ensembl |
|
|
rs1026093247 CA243410757 |
1347 | L>V | No |
ClinGen TOPMed |
|
|
CA6774235 rs752675320 |
1349 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386468011 rs1183809237 |
1349 | H>Y | No |
ClinGen gnomAD |
|
|
CA243410765 rs374741330 |
1350 | S>G | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 1350 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1350 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473072052 CA386468024 |
1351 | T>A | No |
ClinGen gnomAD |
|
|
rs764668971 CA386468035 |
1352 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1291239963 CA386468052 |
1355 | M>V | No |
ClinGen Ensembl |
|
|
rs1474024972 CA386468072 |
1357 | S>N | No |
ClinGen gnomAD |
|
|
CA6774240 rs546114684 |
1358 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546114684 CA6774239 |
1358 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757947070 CA6774242 |
1360 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774243 rs779776432 |
1360 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs757947070 CA386468089 |
1360 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386468097 rs1290833579 |
1361 | P>L | No |
ClinGen gnomAD |
|
|
CA386468094 rs1483685368 |
1361 | P>S | No |
ClinGen TOPMed |
|
|
CA6774245 rs768222838 |
1364 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1181492 CA6774246 rs146916735 |
1365 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs146916735 CA243410863 |
1365 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748021201 CA6774247 |
1365 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748021201 CA386468120 |
1365 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386468123 rs199811101 |
1366 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6774248 rs199811101 |
1366 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762833132 CA6774250 |
1370 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386468151 rs1210450430 |
1370 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386468153 rs1210450430 |
1370 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA243410932 rs996022400 |
1371 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1372985052 CA386468176 |
1374 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs772164929 CA6774251 |
1375 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1391174151 CA386468190 |
1376 | E>K | No |
ClinGen gnomAD |
|
|
CA386468249 rs1327136003 |
1382 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1382 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6774275 rs750978502 |
1383 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs763215607 CA6774277 |
1384 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1593655124 CA386468274 |
1385 | V>A | No |
ClinGen Ensembl |
|
|
rs751876382 CA6774278 |
1389 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199563607 CA6774280 |
1390 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386468314 rs1433364441 |
1391 | N>I | No |
ClinGen gnomAD |
|
|
CA386468316 rs181464188 |
1391 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528800239 CA6774282 COSM1358583 |
1392 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs777571000 CA6774283 |
1395 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs749302696 CA6774284 |
1396 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749302696 CA386468346 |
1396 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1368067515 CA386468353 |
1397 | P>H | No |
ClinGen gnomAD |
|
|
CA386468354 rs1228509137 |
1398 | L>I | No |
ClinGen TOPMed |
|
| TCGA novel | 1398 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1565953344 | 1398 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386468373 rs1306520641 |
1400 | S>N | No |
ClinGen gnomAD |
|
|
rs768950144 CA6774288 |
1401 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774290 rs748208069 |
1402 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6774289 rs777040512 |
1402 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA386468389 rs1297313839 |
1403 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs779738351 CA6774291 |
1403 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1403 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773179278 CA6774292 |
1404 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774293 COSM77200 rs763451255 |
1404 | T>I | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6774295 rs774729759 |
1408 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs185761261 CA6774298 |
1409 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA243412252 rs532331584 |
1410 | D>V | No |
ClinGen Ensembl |
|
|
CA243412255 rs1022801654 |
1411 | D>E | No |
ClinGen Ensembl |
|
|
CA386468443 rs1421935887 |
1412 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1421935887 CA386468442 |
1412 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1166803314 CA386468453 |
1412 | C>W | No |
ClinGen gnomAD |
|
|
rs1382189506 CA386468514 |
1414 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs377006264 CA243412505 |
1415 | L>P | No |
ClinGen TOPMed |
|
|
rs993289256 CA243412512 |
1416 | R>K | No |
ClinGen Ensembl |
|
|
CA386468567 rs1295797664 |
1418 | E>G | No |
ClinGen gnomAD |
|
|
CA386468590 rs1269445680 |
1420 | I>L | No |
ClinGen TOPMed |
|
|
rs1229656161 CA386468593 |
1420 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386468588 rs1269445680 |
1420 | I>V | No |
ClinGen TOPMed |
|
|
CA386468638 rs1279154799 |
1422 | I>M | No |
ClinGen gnomAD |
|
|
rs1211543293 CA386468651 |
1424 | N>H | No |
ClinGen gnomAD |
|
|
rs1196055604 CA386468657 |
1424 | N>I | No |
ClinGen gnomAD |
|
|
rs577879487 CA243412529 |
1425 | V>L | No |
ClinGen Ensembl |
|
|
CA6774324 rs779929141 |
1426 | S>P | No |
ClinGen ExAC TOPMed |
|
|
rs751432143 CA6774325 |
1427 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA386468710 CA6774327 rs777908450 |
1428 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA386468708 rs1186616731 |
1428 | Q>R | No |
ClinGen gnomAD |
|
|
CA386468716 rs1449847504 |
1429 | C>R | No |
ClinGen gnomAD |
|
|
rs867354965 CA243412555 |
1430 | A>T | No |
ClinGen TOPMed |
|
|
rs887481398 CA243412563 |
1430 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1047151757 CA243412603 |
1431 | D>E | No |
ClinGen TOPMed |
|
|
CA6774328 rs749359243 |
1431 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA386468739 rs749359243 |
1431 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs770985671 CA6774329 |
1432 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310947968 CA386468768 |
1433 | L>P | No |
ClinGen TOPMed |
|
|
CA386468802 rs1178277494 |
1436 | E>K | No |
ClinGen gnomAD |
|
|
CA386468832 rs1421308095 |
1438 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs190169259 CA6774333 |
1440 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386468883 rs768329852 |
1443 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA6774336 rs768329852 |
1443 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs200412699 CA6774335 |
1443 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1008357337 CA243412644 |
1444 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6774337 rs776186327 |
1444 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1206360026 CA386468913 |
1446 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386468950 rs1371470741 |
1448 | S>T | No |
ClinGen TOPMed |
|
|
rs1415839369 CA386468960 |
1449 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6774339 rs764898073 |
1449 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA6774361 rs766389372 |
1450 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs774223316 CA6774362 |
1451 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1350546192 CA386469844 |
1454 | V>L | No |
ClinGen gnomAD |
|
|
rs1350546192 CA386469840 |
1454 | V>M | No |
ClinGen gnomAD |
|
|
rs759365037 CA6774363 |
1459 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774364 rs375855495 |
1459 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752545205 CA6774365 |
1460 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386469925 rs1203304904 |
1460 | R>Q | No |
ClinGen gnomAD |
|
|
CA6774366 rs757426324 |
1461 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6774368 rs750476301 |
1464 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA386469969 rs1367178998 |
1464 | L>W | No |
ClinGen gnomAD |
|
|
CA6774369 rs758510596 |
1465 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243413976 rs978621100 |
1465 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA243414002 rs370218754 |
1466 | A>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386470152 rs1565955523 |
1469 | K>E | No |
ClinGen Ensembl |
|
|
rs374477026 CA6774388 |
1470 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751664483 CA6774389 |
1472 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1472 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1002227016 COSM934736 CA243414301 |
1474 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs980728534 CA243414312 |
1476 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA243414320 rs17848825 |
1480 | R>K | No |
ClinGen Ensembl |
|
|
rs1555229521 CA386470310 |
1481 | D>E | No |
ClinGen Ensembl |
|
|
RCV000973712 rs113524436 CA6774391 |
1481 | D>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs748432369 CA6774392 |
1482 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243421526 rs775506034 |
1484 | A>V | No |
ClinGen Ensembl |
|
|
rs1367890585 CA386470497 |
1487 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6774418 COSM1181490 rs754289848 |
1487 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA386470499 rs754289848 |
1487 | R>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1358585 rs756806908 CA6774419 |
1490 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs200016239 CA6774420 |
1490 | R>H | Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200016239 CA6774421 |
1490 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386470530 rs1177288212 |
1491 | H>Q | No |
ClinGen TOPMed |
|
|
CA6774422 rs771676923 |
1492 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA386470613 rs1308328092 |
1499 | Q>* | No |
ClinGen gnomAD |
|
|
rs776370396 CA6774426 |
1499 | Q>R | No |
ClinGen ExAC |
|
| TCGA novel | 1501 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386470664 rs1321703659 |
1502 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6774427 rs761645142 |
1502 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA386470662 rs1321703659 |
1502 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386470682 rs1490398179 |
1503 | N>I | No |
ClinGen gnomAD |
|
|
rs1024359271 CA243421597 |
1503 | N>K | No |
ClinGen Ensembl |
|
|
rs549887432 COSM934740 CA6774431 |
1504 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6774430 rs759522981 |
1504 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752832246 CA6774432 |
1506 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs376720236 CA6774433 |
1506 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6774437 rs146231935 |
1509 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6774436 rs146231935 |
1509 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386470811 rs1593665591 |
1510 | L>M | No |
ClinGen Ensembl |
|
|
rs202085678 CA243421665 |
1511 | T>P | No |
ClinGen gnomAD |
|
|
rs779472077 CA6774441 |
1512 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779472077 CA6774440 |
1512 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6774442 rs754860995 |
1513 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386470888 rs1394828261 |
1514 | P>A | No |
ClinGen gnomAD |
|
|
rs1394828261 CA386470889 |
1514 | P>S | No |
ClinGen gnomAD |
|
|
rs200232907 CA243421709 |
1515 | C>Y | No |
ClinGen Ensembl |
|
|
rs747892426 CA6774444 |
1517 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386470938 rs747892426 |
1517 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386470975 rs1442014927 |
1519 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 1520 | M>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386471012 rs1228219666 |
1521 | H>R | No |
ClinGen gnomAD |
|
|
rs1381484897 CA386471018 |
1522 | L>I | No |
ClinGen TOPMed |
|
|
CA386471063 rs1422164268 |
1524 | L>P | No |
ClinGen TOPMed |
|
|
CA386471058 rs1343872980 |
1524 | L>V | No |
ClinGen gnomAD |
|
|
rs142663570 CA6774447 |
1525 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772898022 CA6774446 |
1525 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1528 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760881766 CA386471174 |
1531 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774449 rs775667215 |
1531 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388487680 CA386471180 |
1532 | G>D | No |
ClinGen gnomAD |
|
|
CA386471188 rs1171171145 |
1533 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs934187721 CA243421800 |
1535 | V>M | No |
ClinGen gnomAD |
|
|
rs762073299 CA6774453 |
1536 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774452 rs777340971 |
1536 | T>P | No |
ClinGen ExAC TOPMed |
|
|
rs1295869222 CA386471234 |
1537 | D>V | No |
ClinGen gnomAD |
|
|
CA243421846 rs750758828 |
1538 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758029445 CA6774456 |
1539 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6774457 rs766042270 |
1540 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs774245896 CA6774458 |
1543 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM430289 CA6774459 rs527660684 |
1543 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774245896 CA243421893 |
1543 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774460 rs374544605 |
1544 | A>T | Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs756007626 CA386471356 |
1548 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756007626 CA6774462 |
1548 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187303491 CA386471392 |
1551 | L>P | No |
ClinGen gnomAD |
|
|
rs777581519 CA6774463 |
1551 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs146039140 CA6774465 |
1553 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1178696725 CA386471414 |
1553 | T>I | No |
ClinGen gnomAD |
|
|
CA386471841 rs1593673180 |
1555 | E>G | No |
ClinGen Ensembl |
|
|
rs935320132 CA386471853 |
1556 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA243424176 rs935320132 |
1556 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1391872215 CA386471867 |
1557 | S>A | No |
ClinGen TOPMed |
|
|
COSM691350 CA6774480 rs756027386 |
1559 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA386471914 rs1476380806 |
1561 | L>V | No |
ClinGen TOPMed |
|
|
rs148713212 CA243424202 |
1562 | Q>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1290127029 CA386471928 |
1562 | Q>R | No |
ClinGen gnomAD |
|
|
rs1253869504 CA386471967 |
1564 | E>A | No |
ClinGen gnomAD |
|
|
rs753641748 CA6774482 |
1564 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386471957 rs753641748 |
1564 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320093586 CA386471986 |
1565 | G>S | No |
ClinGen gnomAD |
|
|
CA6774484 rs780413964 |
1567 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6774483 rs757188313 |
1567 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774485 rs747173827 |
1569 | L>P | No |
ClinGen ExAC |
|
|
CA386472042 rs1482766823 |
1569 | L>V | No |
ClinGen gnomAD |
|
|
rs948165947 CA243424230 |
1573 | M>T | No |
ClinGen TOPMed |
|
|
CA6774486 rs769005711 |
1574 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1191533987 CA386472151 |
1575 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1470799574 CA386472227 |
1577 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA386472232 rs1593673473 |
1578 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1579 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1045179377 CA243424252 |
1579 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386472275 rs1593673509 |
1580 | F>V | No |
ClinGen Ensembl |
|
|
CA6774489 rs374516918 |
1581 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6774491 rs763290011 |
1583 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386472348 rs1593673554 |
1583 | T>P | No |
ClinGen Ensembl |
|
|
CA6774493 rs774700704 |
1584 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA6774495 rs767175687 |
1585 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752226105 CA6774496 |
1586 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6774497 rs142393083 |
1586 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142393083 CA386472466 |
1586 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753780968 CA6774499 |
1588 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341739656 CA386472569 |
1589 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1589 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs568586081 CA6774500 |
1591 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386472634 rs568586081 |
1591 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386472770 rs1187429871 |
1595 | N>S | No |
ClinGen gnomAD |
|
|
rs755204288 CA386472821 |
1596 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236307555 CA386472801 |
1596 | F>V | No |
ClinGen gnomAD |
|
|
rs781319143 CA6774504 |
1597 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs199709974 CA6774507 |
1601 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749726682 CA6774508 |
1605 | F>L | No |
ClinGen ExAC gnomAD |
|
| rs776234149 | 1607 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243425231 rs776234149 |
1607 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386473871 rs1281495349 |
1607 | I>V | No |
ClinGen gnomAD |
|
|
CA6774535 rs374379639 |
1608 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6774536 rs368342694 |
1609 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6774538 rs17848829 |
1612 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375124672 CA6774540 |
1612 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386473995 rs375124672 |
1612 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6774539 rs17848829 |
1612 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756239363 CA6774541 |
1613 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386474017 rs756239363 |
1613 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196080261 CA386474052 |
1615 | V>I | No |
ClinGen gnomAD |
|
|
CA6774542 rs764424142 |
1616 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1430817667 CA386474065 |
1616 | M>T | No |
ClinGen gnomAD |
|
|
rs753880349 CA6774543 |
1617 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs547366413 CA6774544 |
1617 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562107218 CA6774546 |
1618 | Y>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6774548 rs780244896 |
1619 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768173224 CA6774550 |
1620 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6774552 rs143327495 |
1621 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs143327495 CA6774551 |
1621 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1405698927 CA386474178 |
1621 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs75780692 CA243425353 |
1624 | K>E | No |
ClinGen Ensembl |
|
|
rs199820674 CA6774554 |
1624 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243425386 rs569275472 |
1625 | L>F | No |
ClinGen 1000Genomes |
|
|
CA386474256 rs1355149533 |
1625 | L>H | No |
ClinGen gnomAD |
|
|
CA386474251 rs1355149533 |
1625 | L>P | No |
ClinGen gnomAD |
|
|
rs1219770419 CA386474259 COSM467753 |
1626 | R>C | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6774555 rs762757492 |
1626 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs773991465 CA6774557 |
1631 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA243425418 rs1039065105 |
1631 | E>V | No |
ClinGen gnomAD |
|
|
CA386474374 rs1593677390 |
1632 | V>G | No |
ClinGen Ensembl |
|
|
CA386474391 rs1565961854 |
1633 | K>E | No |
ClinGen Ensembl |
|
|
rs764292369 CA6774559 |
1633 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6774560 rs754114281 |
1635 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593677467 CA386474461 |
1636 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 1637 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs998286464 CA243425445 |
1637 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs777709102 CA6774562 |
1637 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750550202 CA6774563 |
1638 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386474498 rs1593677536 |
1640 | T>P | No |
ClinGen Ensembl |
|
|
CA243425483 rs201003033 |
1641 | T>A | No |
ClinGen TOPMed |
|
|
CA386474510 rs201003033 |
1641 | T>P | No |
ClinGen TOPMed |
|
|
CA6774566 rs370014234 |
1642 | G>D | No |
ClinGen ESP TOPMed |
|
|
rs780660597 CA6774565 |
1642 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs997770121 CA243425492 |
1643 | S>R | No |
ClinGen Ensembl |
|
|
CA386474542 rs1244317550 |
1644 | A>G | No |
ClinGen gnomAD |
|
|
CA6774568 rs372735105 |
1644 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6774571 rs747735569 |
1645 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774570 rs140946857 |
1645 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1206402963 CA386474565 |
1647 | I>N | No |
ClinGen gnomAD |
|
|
CA386474575 rs1481359214 |
1648 | R>C | No |
ClinGen gnomAD |
|
|
CA6774573 rs777367863 |
1648 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386474580 rs1565962009 |
1649 | L>V | No |
ClinGen Ensembl |
|
|
CA386474602 rs1255471859 |
1650 | F>L | No |
ClinGen gnomAD |
|
|
CA386474587 rs1244632552 |
1650 | F>L | No |
ClinGen TOPMed |
|
|
CA386474607 rs1315481067 |
1651 | I>N | No |
ClinGen TOPMed |
|
|
rs886638088 CA243425559 |
1652 | T>A | No |
ClinGen Ensembl |
|
|
CA6774574 rs748877113 |
1652 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387239626 CA386474629 |
1653 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs774411305 CA386474655 |
1655 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774411305 CA6774576 |
1655 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243425586 rs878855330 |
1656 | G>A | No |
ClinGen Ensembl |
|
|
CA6774579 rs775273258 |
1660 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386474722 rs1299237566 |
1661 | I>T | No |
ClinGen gnomAD |
|
|
CA6774580 rs761986226 |
1662 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6774581 rs765469286 |
1662 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774582 rs750449470 |
1663 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243425639 rs981830602 |
1664 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs981830602 CA386474761 |
1664 | Y>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1666 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6774584 rs766791907 |
1666 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308748956 CA386474819 |
1667 | V>G | No |
ClinGen gnomAD |
|
|
CA386474837 rs1204679079 |
1669 | D>Y | No |
ClinGen gnomAD |
|
|
CA386474859 rs1459927338 |
1670 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1459927338 CA386474856 |
1670 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA386474851 rs1255283228 |
1670 | S>P | No |
ClinGen gnomAD |
|
|
CA6774585 rs534595742 |
1671 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1672 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs553023607 CA6774586 |
1673 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553023607 CA6774587 |
1673 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA243426599 rs927523122 |
1675 | I>F | No |
ClinGen gnomAD |
|
|
rs937603520 CA243426608 |
1675 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1341618669 CA386475010 |
1676 | M>V | No |
ClinGen TOPMed |
|
|
CA386475053 rs1283832745 |
1679 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs375445592 CA6774618 |
1681 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375445592 CA6774617 |
1681 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386475114 rs1286114860 |
1682 | N>S | No |
ClinGen gnomAD |
|
|
CA6774619 rs771079880 |
1683 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs144908726 CA6774620 |
1683 | K>R | No |
ClinGen ESP ExAC |
|
|
CA6774622 rs768131062 |
1685 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6774624 rs61739667 |
1686 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000908829 rs61739667 CA6774623 |
1686 | P>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1201705276 CA386475204 |
1688 | H>R | No |
ClinGen gnomAD |
|
|
rs149012129 CA6774626 |
1689 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6774627 rs756889633 |
1690 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs199831967 CA6774628 |
1692 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6774629 rs143004298 |
1693 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs566589314 CA386475279 |
1693 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566589314 CA6774630 |
1693 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779955322 CA6774631 |
1694 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA243426736 rs61746004 |
1695 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386475302 rs1377834861 |
1695 | P>L | No |
ClinGen gnomAD |
|
|
rs754877670 CA6774633 |
1696 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6774635 rs747942138 |
1697 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386475328 rs1565963454 |
1698 | T>A | No |
ClinGen Ensembl |
|
|
rs1357564043 CA386475381 |
1702 | L>P | No |
ClinGen gnomAD |
|
|
rs200000830 CA386475396 |
1703 | Q>H | No |
ClinGen TOPMed |
|
|
CA6774637 rs774503137 |
1706 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA243426789 rs946165056 |
1706 | R>Q | No |
ClinGen TOPMed |
|
|
CA243426809 rs777619662 |
1708 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1712 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437363763 CA386475517 |
1713 | G>E | No |
ClinGen gnomAD |
|
|
rs1412786797 CA386475525 |
1714 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386475533 rs1333568959 |
1715 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6774639 rs772219142 |
1716 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1565963526 CA386475542 |
1716 | Y>H | No |
ClinGen Ensembl |
|
|
CA6774640 rs775712406 |
1717 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1470708892 CA386475570 |
1718 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6774641 rs746961901 |
1721 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774643 rs372726643 CA386475641 |
1723 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6774644 rs762128526 |
1725 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283768924 CA386475659 |
1725 | R>K | No |
ClinGen TOPMed |
|
|
CA6774645 rs375618828 |
1726 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767475237 CA386476579 |
1727 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs767475237 CA6774672 |
1727 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6774673 rs151146449 |
1728 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1340657903 CA386476592 |
1729 | F>L | No |
ClinGen TOPMed |
|
|
rs756078266 CA386476604 |
1730 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs756078266 CA6774674 |
1730 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA386476608 rs1593690212 |
1730 | K>I | No |
ClinGen Ensembl |
|
|
rs1444958372 CA386476612 |
1731 | L>M | No |
ClinGen gnomAD |
|
|
CA243429407 rs927699772 |
1732 | W>* | No |
ClinGen Ensembl |
|
|
rs753705502 CA6774676 |
1733 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs563629211 CA243429417 |
1736 | D>G | No |
ClinGen Ensembl |
|
|
rs758673805 CA6774677 |
1736 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs545762685 CA6774678 |
1739 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386476749 rs1384753429 |
1744 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1745 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747111652 CA6774679 |
1746 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA386476813 rs1341207989 |
1749 | V>A | No |
ClinGen gnomAD |
|
|
rs547982339 CA6774682 |
1751 | D>G | No |
ClinGen 1000Genomes |
|
|
CA6774681 rs140188899 |
1751 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1169241340 CA386476880 |
1755 | Q>H | No |
ClinGen TOPMed |
|
|
CA6774684 rs145398869 |
1755 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1477309746 CA386476909 |
1757 | V>A | No |
ClinGen gnomAD |
|
|
rs1234374487 CA386476924 |
1759 | M>L | No |
ClinGen gnomAD |
|
|
rs147443159 CA6774685 |
1760 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6774687 rs568475654 |
1761 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770566091 CA6774688 |
1761 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA919171222 rs1593690600 |
1762 | L>H | No |
ClinGen Ensembl |
|
|
CA386476994 rs1196665853 |
1764 | G>V | No |
ClinGen gnomAD |
|
|
rs1480739582 CA386477008 |
1766 | N>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1767 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6774712 rs776770321 |
1768 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1593692080 CA386477140 |
1769 | G>S | No |
ClinGen Ensembl |
|
|
CA386477168 rs1453752071 |
1771 | V>M | No |
ClinGen TOPMed |
|
|
CA6774713 rs142599425 |
1772 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1772 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386477194 rs1198616474 |
1772 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6774714 rs765057691 |
1774 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA243429977 rs144793901 |
1776 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144793901 CA6774715 |
1776 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1249480636 CA386477259 |
1776 | R>W | No |
ClinGen gnomAD |
|
|
rs1004234768 CA243429999 |
1778 | K>* | No |
ClinGen Ensembl |
|
|
CA6774716 rs755107823 |
1779 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1459847727 CA386477361 |
1779 | T>I | No |
ClinGen gnomAD |
|
|
rs138629237 CA6774717 |
1780 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138629237 CA386477362 |
1780 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1035181444 CA243430031 |
1782 | Y>C | No |
ClinGen gnomAD |
|
|
rs372356232 CA6774718 |
1783 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6774720 RCV000972084 rs144673785 |
1786 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6774719 rs149326318 |
1786 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113691648 CA386477551 |
1787 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6774721 rs754273647 |
1787 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs746289601 CA6774724 |
1788 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs143901792 RCV000994972 CA6774723 |
1788 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs376636256 CA6774726 |
1790 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1381125002 CA386477601 |
1790 | V>I | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200927603 CA243430132 |
1791 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386477616 rs1219138053 |
1791 | I>T | No |
ClinGen gnomAD |
|
|
CA6774727 rs200927603 |
1791 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767320354 CA6774729 COSM1358591 |
1792 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA243430149 rs369716482 |
1793 | N>S | No |
ClinGen gnomAD |
|
|
rs1565967967 CA386477632 |
1794 | D>Y | No |
ClinGen Ensembl |
|
|
rs761802046 CA6774730 |
1795 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205308997 CA386477667 |
1796 | T>A | No |
ClinGen TOPMed |
|
|
CA6774732 rs368377350 |
1798 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368377350 CA243430158 |
1798 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147281050 CA6774734 |
1798 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147281050 CA6774733 |
1798 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs944628807 CA243430184 |
1799 | I>L | No |
ClinGen Ensembl |
|
|
rs944628807 CA243430185 |
1799 | I>V | No |
ClinGen Ensembl |
|
|
CA386477760 rs1348905142 |
1800 | G>E | No |
ClinGen TOPMed |
|
|
CA386477848 rs1178732191 |
1806 | E>K | No |
ClinGen gnomAD |
|
|
rs752858458 CA6774736 |
1807 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6774735 rs752858458 |
1807 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1237700765 CA386477891 |
1808 | L>P | No |
ClinGen TOPMed |
|
|
CA6774737 rs764114949 |
1809 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs753933435 CA6774738 |
1810 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774740 rs201217547 |
1812 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774739 rs757735587 |
1812 | R>W | Variant assessed as Somatic; 0.000231 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs920176873 CA243430259 |
1814 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs750750723 CA386477968 |
1814 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774741 rs750750723 |
1814 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774743 rs61752535 |
1815 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768455977 CA6774745 |
1816 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs151300416 COSM934748 CA6774746 |
1818 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386478021 rs1194484880 |
1818 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6774747 rs747711310 |
1819 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1821 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386478076 rs1426277634 |
1821 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA243430293 rs755812772 |
1822 | I>L | No |
ClinGen Ensembl |
|
| TCGA novel | 1822 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386478157 rs773257728 |
1826 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563984467 CA6774750 |
1827 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770693613 CA6774751 |
1828 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1363583791 CA386478188 |
1830 | N>D | No |
ClinGen gnomAD |
|
|
rs1040141279 CA243430338 |
1830 | N>S | No |
ClinGen TOPMed |
|
|
CA6774753 rs760833780 |
1833 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386478231 rs1227635489 |
1833 | A>V | No |
ClinGen TOPMed |
|
|
CA6774755 rs753882249 |
1834 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs369007554 CA6774756 |
1834 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs765652687 CA6774757 |
1835 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339445294 CA386478257 |
1836 | G>D | No |
ClinGen TOPMed |
|
|
CA243430369 rs892730248 |
1837 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA386478276 rs1418231763 |
1838 | A>T | No |
ClinGen TOPMed |
|
|
CA6774759 rs758838058 |
1839 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs754719145 CA386478303 |
1840 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751996107 CA386478312 |
1840 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754719145 CA6774760 |
1840 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774762 rs754655827 |
1841 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs552607556 CA6774763 |
1844 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs186791789 CA243430417 |
1845 | F>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6774764 rs200269069 |
1847 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377282068 CA243430424 |
1848 | A>S | No |
ClinGen Ensembl |
|
|
CA386478392 rs1593693227 |
1850 | V>G | No |
ClinGen Ensembl |
|
|
rs777152194 CA6774767 |
1852 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA386478420 rs1353864389 |
1854 | D>E | No |
ClinGen gnomAD |
|
|
CA6774769 rs770791529 |
1855 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA243430465 rs919136966 |
1857 | K>E | No |
ClinGen Ensembl |
|
|
CA6774797 rs762985234 |
1858 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1195739386 CA386478458 |
1859 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA243431517 rs941823205 |
1860 | K>R | No |
ClinGen Ensembl |
|
|
rs766991887 CA386478476 |
1861 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6774798 rs766991887 |
1861 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs766991887 CA386478475 |
1861 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA386478482 rs1296546691 |
1862 | L>P | No |
ClinGen TOPMed |
|
|
rs760123410 CA6774800 |
1863 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs774939307 CA6774799 |
1863 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552016893 CA6774801 |
1864 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA243431534 rs369637962 |
1867 | Q>E | No |
ClinGen ESP TOPMed |
|
|
CA386478522 rs1325925078 |
1869 | Y>H | No |
ClinGen gnomAD |
|
|
rs760349515 CA6774803 |
1870 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6774804 rs763690194 |
1871 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774805 rs753381133 |
1871 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254607487 CA386478540 |
1872 | I>V | No |
ClinGen gnomAD |
|
|
CA6774806 rs756815651 |
1873 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs890012204 CA243431560 |
1875 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 1877 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201210568 CA6774808 |
1878 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1480715439 CA386478585 |
1879 | H>R | No |
ClinGen TOPMed |
|
|
CA6774810 rs369208008 |
1879 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs534560643 CA6774811 |
1880 | C>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1263755103 CA386478592 |
1880 | C>Y | No |
ClinGen gnomAD |
|
|
CA386478601 rs1565970018 |
1881 | K>I | No |
ClinGen Ensembl |
|
|
CA6774812 rs746829930 |
1882 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774814 rs769016037 |
1883 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6774816 rs771066298 |
1884 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243431618 rs771066298 |
1884 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386478636 rs1417866380 |
1886 | G>V | No |
ClinGen gnomAD |
|
|
rs200447481 CA243431619 |
1889 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs745985251 CA6774840 |
1892 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6774841 COSM1358593 rs772701854 |
1894 | T>M | large_intestine Variant assessed as Somatic; 4.631e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761256936 CA6774843 |
1895 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA386479397 rs1204450065 |
1896 | I>V | No |
ClinGen TOPMed |
|
|
CA6774844 rs3742025 |
1898 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386479431 rs1370651167 |
1899 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1901 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs951118683 CA243433039 |
1901 | D>N | No |
ClinGen TOPMed |
|
|
CA243433042 rs763187516 |
1902 | G>D | No |
ClinGen Ensembl |
|
|
CA6774846 rs182648370 COSM3398319 |
1905 | V>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386479501 rs1311758591 |
1906 | E>* | No |
ClinGen TOPMed |
|
|
rs1019749237 CA243433083 |
1910 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1381592742 CA386479557 |
1911 | S>L | No |
ClinGen gnomAD |
|
|
rs1331542979 CA386479553 |
1911 | S>P | No |
ClinGen gnomAD |
|
|
CA386479581 rs1565972674 |
1913 | M>I | No |
ClinGen Ensembl |
|
|
CA386479576 rs1565972667 |
1913 | M>T | No |
ClinGen Ensembl |
|
|
CA243433088 rs370565979 |
1913 | M>V | No |
ClinGen ESP TOPMed |
|
|
rs1240209209 CA386479596 |
1914 | I>M | No |
ClinGen Ensembl |
|
|
rs1393751059 CA386479588 |
1914 | I>V | No |
ClinGen gnomAD |
|
|
CA386479640 rs1385951692 |
1919 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 1919 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs113576948 CA6774851 |
1923 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs113576948 CA6774850 |
1923 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1199040454 CA386479689 |
1924 | E>K | No |
ClinGen gnomAD |
|
|
CA386479716 rs1483058438 COSM3396051 |
1926 | V>F | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA386479713 rs1483058438 |
1926 | V>I | No |
ClinGen gnomAD |
|
|
CA243434362 rs908651756 |
1932 | T>P | No |
ClinGen Ensembl |
|
|
CA6774873 rs756030544 |
1933 | C>W | No |
ClinGen ExAC |
|
|
rs763992618 CA6774874 |
1934 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763992618 CA386479920 |
1934 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1244056 CA243434374 rs1049370630 |
1934 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA243434379 rs1006807395 |
1935 | A>T | No |
ClinGen gnomAD |
|
|
CA243434400 rs145331950 |
1936 | I>F | No |
ClinGen ESP |
|
|
rs750604068 CA6774875 |
1938 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297454252 CA386479980 |
1938 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386480002 rs1292013476 |
1939 | G>A | No |
ClinGen Ensembl |
|
|
rs747162842 CA6774878 |
1945 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243434423 rs747162842 |
1945 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386480128 rs1593708276 |
1947 | Q>R | No |
ClinGen Ensembl |
|
|
CA6774880 COSM934754 rs554134867 |
1948 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs748501859 CA6774881 |
1948 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770089749 CA6774883 |
1951 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA243434442 rs201515530 |
1953 | E>G | No |
ClinGen gnomAD |
|
|
CA386480240 rs1193313772 |
1955 | S>Y | No |
ClinGen gnomAD |
|
|
rs768497415 CA386480247 |
1956 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs768497415 CA6774884 |
1956 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs770662949 CA6774887 |
1958 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759151956 CA6774889 |
1961 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA6774890 rs772121085 |
1965 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1372411670 CA386480430 |
1966 | N>K | No |
ClinGen gnomAD |
|
|
rs1299837600 CA386480924 |
1970 | G>E | No |
ClinGen gnomAD |
|
|
rs1265910496 CA386480952 |
1974 | Y>C | No |
ClinGen TOPMed |
|
|
CA6774911 rs17848833 |
1975 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386480966 rs1186463927 |
1976 | S>F | No |
ClinGen gnomAD |
|
|
CA386480963 rs1229125408 |
1976 | S>T | No |
ClinGen gnomAD |
|
|
CA6774912 rs761735425 |
1977 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774913 rs766501542 |
1977 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs766501542 CA386480970 |
1977 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA243440477 rs773088100 |
1979 | Q>E | No |
ClinGen Ensembl |
|
|
rs150383484 CA6774914 |
1979 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6774916 rs138134900 |
1983 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6774917 rs752819679 |
1986 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA386481025 rs1593710903 |
1986 | M>V | No |
ClinGen Ensembl |
|
|
rs1342179071 CA386481053 |
1989 | N>K | No |
ClinGen TOPMed |
|
|
rs756578908 CA6774918 |
1989 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs778315261 CA6774919 |
1990 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA386481061 rs1593710978 |
1991 | V>F | No |
ClinGen Ensembl |
|
|
rs187297100 CA6774921 |
1995 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1340487891 CA386481091 |
1995 | T>I | No |
ClinGen gnomAD |
|
|
rs1340487891 CA386481089 |
1995 | T>N | No |
ClinGen gnomAD |
|
|
CA6774923 rs138582469 |
1996 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6774924 rs771875652 |
1997 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779690066 CA6774925 |
1998 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1165811168 CA386481144 |
2003 | V>A | No |
ClinGen TOPMed |
|
|
CA386481140 rs1418410802 |
2003 | V>F | No |
ClinGen TOPMed |
|
|
CA6774927 rs768710971 |
2005 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA386481157 COSM200747 rs1210244624 |
2005 | T>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs961822385 CA243440526 |
2010 | L>P | No |
ClinGen TOPMed |
|
|
CA386481193 rs1593711180 |
2011 | S>A | No |
ClinGen Ensembl |
|
|
CA386481196 rs1265795868 |
2011 | S>F | No |
ClinGen TOPMed |
|
|
rs780066853 CA243440534 |
2012 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 2012 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6774930 rs769568596 |
2013 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185933720 CA386481237 |
2016 | D>N | No |
ClinGen TOPMed |
|
|
rs775631148 CA6774953 |
2017 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs764191587 CA6774955 |
2026 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs17848835 CA6774956 |
2027 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs17848835 CA386481314 |
2027 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386481324 rs1593713684 |
2029 | P>T | No |
ClinGen Ensembl |
|
|
CA386481333 rs1290862244 |
2030 | I>T | No |
ClinGen gnomAD |
|
|
rs76447919 CA6774959 |
2030 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1002314071 CA386481341 |
2031 | D>E | No |
ClinGen Ensembl |
|
|
rs202214692 CA243441037 |
2031 | D>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA6774960 rs758892562 |
2031 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA243441060 rs910034631 |
2034 | I>T | No |
ClinGen TOPMed |
|
|
CA6774961 rs766867483 |
2034 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386481379 rs751194997 |
2037 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs751194997 CA6774962 |
2037 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1219133501 CA386481392 |
2039 | S>Y | No |
ClinGen gnomAD |
|
|
COSM1706246 CA6774964 rs780707436 |
2044 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs747649594 CA6774965 |
2045 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs148572580 CA6774967 |
2046 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756072465 CA6774966 |
2046 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6774968 rs749234124 |
2047 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA386481439 rs1282187226 |
2047 | W>R | No |
ClinGen TOPMed |
|
|
rs1246649143 CA386481456 |
2049 | L>F | No |
ClinGen TOPMed |
|
|
rs1037280241 CA243441082 |
2049 | L>R | No |
ClinGen TOPMed |
|
|
rs1297446012 CA386481464 |
2050 | A>V | No |
ClinGen TOPMed |
|
|
rs770645594 CA6774969 |
2052 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs866739492 CA243441092 |
2055 | P>S | No |
ClinGen Ensembl |
|
|
rs768920623 CA6774994 |
2056 | T>I | No |
ClinGen ExAC |
|
|
CA6774995 rs142964772 |
2060 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766323958 CA6774998 |
2061 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs150701956 CA6775000 |
2064 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 2065 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409317544 CA386481649 TCGA novel |
2065 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
|
rs377624412 CA6775001 |
2066 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774849156 CA6775002 |
2068 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381592318 CA386481685 |
2068 | H>Y | No |
ClinGen gnomAD |
|
|
rs201323153 CA6775004 |
2069 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs143974380 CA386481764 |
2075 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6775005 rs143974380 |
2075 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1302937131 CA386481781 |
2076 | A>V | No |
ClinGen TOPMed |
|
|
rs990567251 CA243442110 |
2078 | W>* | No |
ClinGen TOPMed |
|
|
CA386481810 rs760406701 |
2079 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760406701 CA386481812 |
2079 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775006 rs760406701 |
2079 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775007 rs763546332 |
2079 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775008 rs753394219 |
2080 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs558993185 CA243442128 |
2081 | T>N | No |
ClinGen Ensembl |
|
|
CA386481841 rs1170639005 |
2082 | V>M | No |
ClinGen gnomAD |
|
|
rs778889891 CA6775010 |
2083 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386481866 rs1304054803 |
2084 | T>A | No |
ClinGen gnomAD |
|
|
CA386481878 rs1482420345 |
2085 | G>R | No |
ClinGen gnomAD |
|
|
rs1399317882 CA386481887 |
2086 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758071550 CA6775012 |
2086 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1462003565 CA386481894 |
2087 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 2089 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386482287 rs1177499354 |
2090 | G>E | No |
ClinGen TOPMed |
|
|
rs1217182399 CA386482290 |
2091 | G>R | No |
ClinGen gnomAD |
|
| rs751366693 | 2092 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6775034 rs778196187 |
2093 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775035 rs778196187 |
2093 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775037 rs146424440 |
2094 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386482331 rs1255740316 |
2095 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 2095 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243443196 rs917086033 |
2096 | V>A | No |
ClinGen TOPMed |
|
|
CA386482349 rs1438496584 |
2097 | I>F | No |
ClinGen gnomAD |
|
|
CA386482360 rs1484145030 |
2098 | A>S | No |
ClinGen TOPMed |
|
|
rs746310831 CA6775038 |
2098 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA386482373 rs1401190747 |
2099 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1409590054 CA386482368 |
2099 | V>L | No |
ClinGen gnomAD |
|
|
rs373662394 CA6775039 |
2101 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6775041 rs368938120 |
2102 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6775040 rs747445383 |
2102 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768285792 CA6775042 |
2104 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776208578 CA6775043 |
2106 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775044 rs761460741 |
2107 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764688506 CA6775045 |
2107 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775047 rs762779977 |
2108 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772804579 CA6775046 |
2108 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs766383618 CA6775048 |
2109 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6775049 rs751311068 |
2114 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6775050 rs754757968 |
2114 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs140894382 CA243443259 |
2119 | A>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386482490 rs1387119399 |
2119 | A>T | No |
ClinGen TOPMed |
|
|
rs140894382 CA386482494 |
2119 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs767421139 CA6775051 |
2120 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386482498 rs1470255097 |
2120 | K>R | No |
ClinGen gnomAD |
|
|
rs1565981760 CA386482531 |
2123 | Q>R | No |
ClinGen Ensembl |
|
|
CA386482536 rs1427291466 |
2124 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1427291466 CA386482535 |
2124 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA386482538 rs1383902989 |
2124 | Q>P | No |
ClinGen TOPMed |
|
|
rs1003623660 CA243443638 |
2126 | G>R | No |
ClinGen gnomAD |
|
|
rs762094121 CA6775077 |
2127 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6775078 rs765561863 |
2127 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243443647 rs1050966102 |
2127 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1433685343 CA386482696 |
2128 | V>M | No |
ClinGen TOPMed |
|
|
rs373328609 CA6775079 |
2130 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377654795 CA6775080 |
2132 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1425654392 CA386482776 |
2133 | S>A | No |
ClinGen TOPMed |
|
|
CA6775081 rs369413010 |
2134 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752022633 CA6775082 |
2135 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA6775083 rs755503238 |
2137 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145553418 CA6775085 |
2138 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6775086 rs769331822 |
2138 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs1475845404 CA386482826 |
2140 | A>V | No |
ClinGen gnomAD |
|
|
CA6775088 VAR_031257 rs2075260 |
2141 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6775089 rs770430319 |
2142 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs759521668 CA6775091 |
2145 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775092 rs759521668 |
2145 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386482858 rs759521668 |
2145 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775093 rs374132389 |
2146 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386482862 COSM2150980 rs1380838784 |
2146 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA386482872 rs1327433127 |
2147 | E>D | No |
ClinGen gnomAD |
|
|
rs143558242 CA6775094 |
2148 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386482890 rs1300821089 |
2150 | P>H | No |
ClinGen gnomAD |
|
|
rs750592937 CA6775096 |
2151 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6775095 rs763809724 |
2151 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs763118062 CA6775097 |
2152 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA6775098 rs766434655 |
2153 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775099 rs751690673 |
2155 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA386482920 rs1206864081 |
2155 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755448815 CA6775100 |
2156 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA243443721 rs942712421 |
2156 | N>S | No |
ClinGen gnomAD |
|
|
CA386482935 rs1455612943 |
2157 | W>* | No |
ClinGen gnomAD |
|
|
rs1251379555 CA386482932 |
2157 | W>* | No |
ClinGen gnomAD |
|
|
rs866743131 CA243443730 |
2158 | R>K | No |
ClinGen Ensembl |
|
|
rs866743131 CA386482941 |
2158 | R>M | No |
ClinGen Ensembl |
|
|
CA6775101 rs768083563 |
2159 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6775102 rs148052616 |
2162 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756430740 CA6775103 |
2164 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408784649 CA386482977 |
2164 | M>T | No |
ClinGen TOPMed |
|
|
rs930244308 CA243443745 |
2164 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 2165 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386483196 rs1268669464 |
2166 | D>G | No |
ClinGen Ensembl |
|
|
rs778025671 CA6775104 |
2166 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047587347 CA243444364 |
2167 | M>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 2169 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs906556852 CA243444367 |
2170 | Q>E | No |
ClinGen TOPMed |
|
|
rs1259332969 CA386483268 |
2176 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 2176 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6775152 rs781052311 |
2178 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs748133359 CA6775153 |
2179 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769515194 CA243444391 |
2180 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775155 rs530383151 |
2181 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 2183 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6775157 rs772317756 |
2186 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs775631853 CA6775158 |
2187 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243444409 rs775631853 |
2187 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2188 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6775160 rs146283042 |
2192 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1321419779 CA386483379 |
2193 | I>T | No |
ClinGen gnomAD |
|
|
CA6775161 rs139082246 |
2194 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1371906682 CA386483389 |
2195 | P>S | No |
ClinGen gnomAD |
|
|
rs1305513603 CA386483397 |
2196 | Y>C | No |
ClinGen gnomAD |
|
|
rs143111072 CA6775166 |
2197 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143111072 COSM200752 CA6775165 |
2197 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs751071189 CA6775169 |
2200 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766014747 CA6775168 |
2200 | R>W | No |
ClinGen ExAC gnomAD |
|
|
COSM1244058 rs754391562 CA6775170 |
2201 | G>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA243444465 rs866118060 |
2203 | S>Y | No |
ClinGen Ensembl |
|
|
CA6775172 rs752524224 |
2204 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775171 rs570493501 |
2204 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6775173 rs756090747 |
2207 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs777510923 CA6775174 |
2211 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775175 rs372069080 |
2213 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386483601 rs1458647667 |
2218 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386483598 rs1593733861 |
2218 | M>T | No |
ClinGen Ensembl |
|
|
rs747258931 CA6775178 |
2219 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2219 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386483644 rs1479869354 |
2222 | K>T | No |
ClinGen TOPMed |
|
|
CA6775179 rs368094089 |
2223 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776795041 CA6775180 |
2224 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA243445092 rs139062970 |
2226 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756933792 CA6775193 |
2226 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6775194 rs139062970 |
2226 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1185055620 CA386483946 |
2228 | V>I | No |
ClinGen gnomAD |
|
|
rs747150912 CA6775195 |
2229 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs967146071 CA243445097 |
2229 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6775196 rs755278354 |
2232 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA243445102 rs1023404958 |
2236 | E>Q | No |
ClinGen TOPMed |
|
|
CA6775198 rs748306546 |
2237 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA386484005 rs748306546 |
2237 | I>T | No |
ClinGen ExAC gnomAD |
|
|
COSM138897 rs573571761 CA6775199 |
2240 | R>* | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6775200 COSM1358605 rs773800691 |
2240 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1449142569 CA386484034 |
2242 | K>Q | No |
ClinGen TOPMed |
|
|
rs749821054 CA6775201 |
2243 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2243 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6775202 rs771163687 |
2245 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1031038503 CA243445111 |
2248 | M>L | No |
ClinGen gnomAD |
|
|
rs149957235 CA6775203 |
2250 | R>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1349923714 CA386484102 |
2252 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs774964456 CA6775206 |
2253 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6775205 rs200696584 |
2253 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386484110 rs200696584 |
2253 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA243445117 rs921895997 |
2254 | A>T | No |
ClinGen Ensembl |
|
|
CA6775208 rs763597132 |
2259 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775207 rs760118179 |
2259 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386484150 rs1445076672 |
2259 | M>V | No |
ClinGen gnomAD |
|
|
CA386484161 rs765591079 |
2260 | E>D | No |
ClinGen gnomAD |
|
|
CA6775209 rs79982724 |
2260 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386484170 rs1565985179 |
2261 | Q>H | No |
ClinGen Ensembl |
|
|
CA386484168 rs1193064359 |
2261 | Q>P | No |
ClinGen gnomAD |
|
|
CA6775210 rs757239951 |
2262 | L>I | No |
ClinGen ExAC |
|
|
rs764919005 CA6775212 |
2263 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775211 rs764919005 |
2263 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775231 rs554851210 |
2264 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768199367 CA386484197 |
2265 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768199367 CA6775232 |
2265 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243445453 rs768199367 |
2265 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775235 rs777982597 |
2266 | D>Y | No |
ClinGen ExAC |
|
|
CA6775236 rs754010885 |
2267 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA6775240 rs764352111 |
2269 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs764352111 CA6775239 |
2269 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6775241 rs772380197 |
2270 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6775242 rs200890630 |
2272 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386484257 rs200890630 |
2272 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746633480 CA386484261 |
2272 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746633480 CA6775243 |
2272 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593744290 CA386484291 |
2275 | L>P | No |
ClinGen Ensembl |
|
|
CA386484306 rs1418115427 |
2277 | G>S | No |
ClinGen TOPMed |
|
|
rs374238980 CA6775247 |
2277 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386484314 rs199967038 |
2278 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6775249 rs762817382 |
2278 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199967038 CA6775248 |
2278 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6775250 rs766233619 |
2279 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386484327 rs1185041978 |
2280 | K>E | No |
ClinGen gnomAD |
|
|
CA386484335 rs950982550 |
2280 | K>N | No |
ClinGen TOPMed |
|
|
CA243445455 rs140157645 |
2280 | K>R | No |
ClinGen ESP TOPMed |
|
|
CA386484340 rs1316543956 |
2281 | A>V | No |
ClinGen TOPMed |
|
|
CA6775252 rs537638499 |
2282 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386484346 rs537638499 |
2282 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs565580708 CA6775253 |
2282 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386484351 rs565580708 |
2282 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA243445457 rs751883969 |
2283 | E>G | No |
ClinGen Ensembl |
|
|
CA6775254 rs754013468 |
2283 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386484368 rs1593744496 |
2284 | D>A | No |
ClinGen Ensembl |
|
|
rs778883908 CA6775256 |
2285 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775259 rs758944938 |
2289 | I>F | No |
ClinGen ExAC |
|
|
rs1354513681 CA386484450 |
2292 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA386484474 rs1291617779 |
2294 | A>T | No |
ClinGen gnomAD |
|
|
rs139826793 CA6775261 |
2294 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386484487 rs1250814181 |
2295 | V>L | No |
ClinGen gnomAD |
|
|
CA6775264 rs747767589 |
2298 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772625780 CA6775266 |
2299 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA386484560 rs1258750802 |
2301 | H>N | No |
ClinGen gnomAD |
|
|
rs749202356 CA6775267 |
2303 | T>A | No |
ClinGen ExAC TOPMed |
|
|
CA6775270 rs140217207 |
2305 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243445460 rs985569218 |
2306 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
RCV000963972 rs149917930 CA6775271 |
2306 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs985569218 CA243445459 |
2306 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs776865424 CA6775272 |
2307 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA386484656 rs1432844241 |
2310 | K>N | No |
ClinGen gnomAD |
|
|
CA6775274 rs765330713 |
2311 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6775276 rs374342222 |
2312 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1295128208 CA386484681 |
2313 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs756781717 CA6775302 |
2315 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1023866977 CA243445535 |
2316 | I>T | No |
ClinGen Ensembl |
|
|
rs889421938 CA243445534 |
2316 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6775303 rs778599057 |
2318 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2320 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386484828 rs1156628506 |
2321 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
RCV000144494 CA233224 rs587776495 |
2322 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6775305 rs779886492 |
2323 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775306 rs147616769 |
2323 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243445537 rs147616769 |
2323 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6775308 rs773362975 |
2324 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763182651 CA386484912 |
2324 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773362975 CA386484909 |
2324 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763182651 CA6775309 |
2324 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386484919 rs1391367247 |
2325 | F>L | No |
ClinGen gnomAD |
|
|
CA6775310 rs770956314 |
2325 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA243445538 rs374601185 |
2327 | Y>C | No |
ClinGen Ensembl |
|
|
CA6775311 rs560469698 |
2329 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6775312 rs146268113 |
2329 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147871680 COSM4135715 CA6775315 |
2331 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs367989648 CA6775316 |
2331 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6775318 rs753504188 |
2332 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386484954 rs753504188 |
2332 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775319 rs778545831 |
2332 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6775317 rs753504188 |
2332 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775320 rs750013056 |
2333 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2336 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6775321 rs758352184 |
2337 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1472798707 CA386484985 |
2337 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 2338 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243445539 rs952057988 |
2339 | V>L | No |
ClinGen TOPMed |
|
|
rs1403865212 CA386485002 |
2340 | K>E | No |
ClinGen gnomAD |
|
|
CA6775322 rs779789094 |
2343 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs746978944 CA6775324 |
2343 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947597320 CA243445541 |
2343 | I>N | No |
ClinGen Ensembl |
|
|
rs371799472 CA6775325 |
2344 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749479081 CA6775326 |
2346 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410849544 CA386485047 |
2347 | S>G | No |
ClinGen gnomAD |
|
|
CA386485054 CA6775328 rs368598355 |
2348 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6775329 rs759471647 |
2349 | E>K | No |
ClinGen ExAC |
|
|
CA6775330 rs772210651 |
2349 | E>V | No |
ClinGen ExAC |
|
|
rs1457429304 CA386485073 |
2351 | S>N | No |
ClinGen gnomAD |
|
|
CA6775331 rs200707789 |
2352 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200707789 CA386485079 |
2352 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386485086 rs764524027 |
2353 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6775333 rs764524027 |
2353 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA243445543 rs942852049 |
2355 | I>T | No |
ClinGen Ensembl |
|
|
CA6775334 rs754305943 |
2356 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs117537396 CA6775336 |
2358 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763392961 CA243445544 COSM1181500 |
2360 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
COSM934767 CA6775337 rs750093564 |
2360 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs372645487 CA6775338 |
2361 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386485136 rs1414559790 |
2361 | R>H | No |
ClinGen gnomAD |
|
|
CA243445545 rs202202415 |
2363 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386485155 rs552167251 |
2364 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775340 rs552167251 |
2364 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1430991724 CA386485160 |
2365 | E>K | No |
ClinGen gnomAD |
|
|
COSM1244060 CA6775341 rs754980151 |
2366 | T>M | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1045463282 CA243445546 |
2369 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1593747954 CA386485198 |
2369 | A>V | No |
ClinGen Ensembl |
|
|
CA243445558 rs143664715 |
2372 | A>V | No |
ClinGen ESP TOPMed |
|
|
CA6775373 rs773664849 |
2375 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA243445560 rs868387365 |
2379 | Q>* | No |
ClinGen Ensembl |
|
|
CA386485351 rs1429694512 |
2379 | Q>H | No |
ClinGen TOPMed |
|
|
rs148106171 CA6775374 |
2380 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6775376 rs773725666 |
2381 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6775375 rs141894238 |
2381 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373300737 CA6775377 |
2382 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386485385 rs1278737592 |
2383 | Q>* | No |
ClinGen gnomAD |
|
|
rs1270275506 CA386485399 |
2384 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs564704950 CA6775379 |
2384 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201163993 CA6775380 |
2386 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA386485423 rs753726473 |
2387 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA386485424 rs753726473 |
2387 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6775382 rs753726473 |
2387 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA243445561 rs113795346 |
2387 | Q>R | No |
ClinGen Ensembl |
|
|
rs377337560 CA6775383 |
2390 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751845562 CA6775385 |
2394 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs755059216 CA6775386 |
2395 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775389 rs770471527 |
2396 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777984086 CA6775390 |
2396 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386485527 rs368703551 |
2397 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138987031 CA243445563 |
2397 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138987031 CA6775391 |
2397 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6775392 rs368703551 |
2397 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774009369 CA6775393 |
2398 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA386485528 rs774009369 |
2398 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs200727585 CA6775394 |
2398 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1309922426 CA386485545 |
2399 | I>L | No |
ClinGen TOPMed |
|
|
CA386485551 rs1288792968 |
2399 | I>T | No |
ClinGen gnomAD |
|
|
rs775033613 CA6775396 |
2400 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775397 rs368161191 |
2400 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1263753550 CA386485560 |
2401 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs764160682 CA6775398 |
2402 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1467795383 CA386485590 |
2403 | I>T | No |
ClinGen TOPMed |
|
|
rs1041265067 CA243445564 |
2403 | I>V | No |
ClinGen gnomAD |
|
|
CA6775399 rs753723591 |
2404 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6775400 rs761612668 |
2404 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593749068 CA386485604 |
2405 | Y>S | No |
ClinGen Ensembl |
|
|
CA386485628 rs941070297 |
2408 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1369634080 CA386485624 |
2408 | H>Y | No |
ClinGen gnomAD |
|
|
CA6775406 rs139766548 |
2409 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144520667 CA6775405 |
2409 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6775407 rs778271612 |
2410 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6775409 rs749768594 |
2412 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2414 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386485686 rs1593749200 |
2414 | T>P | No |
ClinGen Ensembl |
|
|
CA6775412 rs745499690 |
2415 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6775413 rs771773850 COSM3687938 |
2416 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6775414 rs201073233 |
2416 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386485719 rs1565989459 |
2417 | G>C | No |
ClinGen Ensembl |
|
|
rs1051688848 CA243445638 |
2419 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 2419 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2421 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386485845 rs1593751156 |
2422 | N>T | No |
ClinGen Ensembl |
|
|
rs762766039 CA6775438 |
2423 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs775802513 CA6775440 |
2424 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386485883 rs1441671018 |
2425 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1441671018 CA386485884 |
2425 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6775442 rs746443616 |
2427 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757781859 CA6775444 |
2429 | C>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2430 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765667379 CA6775445 |
2431 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750941564 CA6775446 |
2432 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA386485985 rs1362672345 |
2434 | S>N | No |
ClinGen TOPMed |
|
|
CA243445639 CA386485991 COSM430293 rs1017078502 |
2434 | S>R | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated TOPMed NCI-TCGA |
|
rs1010092113 CA243445640 |
2436 | H>N | No |
ClinGen TOPMed |
|
|
rs770528273 CA243445641 |
2436 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2438 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386486048 rs1330553155 |
2439 | P>L | No |
ClinGen gnomAD |
|
|
rs780429705 CA6775448 |
2441 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775451 rs540153010 |
2442 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746640949 CA6775450 |
2442 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA6775452 rs780740079 |
2443 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765367679 CA243445642 |
2445 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386486104 rs765367679 |
2445 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765367679 CA6775455 |
2445 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386486109 rs551014194 |
2446 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6775457 rs551014194 COSM934771 |
2446 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1210304724 CA386486140 |
2449 | L>V | No |
ClinGen gnomAD |
|
|
CA6775459 rs760943186 |
2451 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1368683298 CA386486178 |
2452 | M>I | No |
ClinGen gnomAD |
|
|
rs1295815113 CA386486173 |
2452 | M>T | No |
ClinGen gnomAD |
|
|
rs1409631810 CA386486180 |
2453 | D>N | No |
ClinGen gnomAD |
|
|
rs1286884708 CA386486222 |
2454 | S>R | No |
ClinGen gnomAD |
|
|
CA6775460 rs775854758 |
2455 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386486226 rs1351922103 |
2455 | P>S | No |
ClinGen gnomAD |
|
|
rs372784451 CA6775462 |
2456 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386486249 rs1593751648 |
2457 | S>P | No |
ClinGen Ensembl |
|
|
CA6775464 rs750890672 |
2458 | T>P | No |
ClinGen ExAC |
|
|
CA6775465 rs763489374 |
2459 | T>C | No |
ClinGen ExAC |
No associated diseases with O00763
10 regional properties for O00763
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Biotin/lipoyl attachment | 888 - 962 | IPR000089 |
| domain | Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain | 431 - 614 | IPR005479 |
| domain | Biotin carboxylase-like, N-terminal domain | 260 - 379 | IPR005481 |
| domain | Biotin carboxylase, C-terminal | 650 - 757 | IPR005482 |
| domain | ATP-grasp fold | 414 - 609 | IPR011761 |
| domain | Acetyl-coenzyme A carboxyltransferase, N-terminal | 1695 - 2025 | IPR011762 |
| domain | Acetyl-coenzyme A carboxyltransferase, C-terminal | 2029 - 2345 | IPR011763 |
| domain | Biotin carboxylation domain | 259 - 761 | IPR011764 |
| domain | Acetyl-CoA carboxylase, central domain | 962 - 1688 | IPR013537 |
| domain | Acetyl-CoA carboxylase | 1780 - 2333 | IPR034733 |
Functions
| Description | ||
|---|---|---|
| EC Number | 6.4.1.2 | Forming carbon-carbon bonds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| 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. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| acetyl-CoA carboxylase activity | Catalysis of the reaction: ATP + acetyl-CoA + HCO3- = ADP + phosphate + malonyl-CoA. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| biotin binding | Binding to biotin (cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid), the (+) enantiomer of which is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions. |
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| acetyl-CoA metabolic process | The chemical reactions and pathways involving acetyl-CoA, a derivative of coenzyme A in which the sulfhydryl group is acetylated; it is a metabolite derived from several pathways (e.g. glycolysis, fatty acid oxidation, amino-acid catabolism) and is further metabolized by the tricarboxylic acid cycle. It is a key intermediate in lipid and terpenoid biosynthesis. |
| energy homeostasis | Any process involved in the balance between food intake (energy input) and energy expenditure. |
| fatty acid biosynthetic process | The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes. |
| malonyl-CoA biosynthetic process | The chemical reactions and pathways resulting in the formation of malonyl-CoA, the S-malonyl derivative of coenzyme A. |
| negative regulation of catalytic activity | Any process that stops or reduces the activity of an enzyme. |
| negative regulation of fatty acid beta-oxidation | Any process that stops, prevents, or reduces the frequency, rate or extent of fatty acid beta-oxidation. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of heart growth | Any process that increases the rate or extent of heart growth. Heart growth is the increase in size or mass of the heart. |
| positive regulation of lipid storage | Any process that increases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. |
| protein homotetramerization | The formation of a protein homotetramer, a macromolecular structure consisting of four noncovalently associated identical subunits. |
| regulation of glucose metabolic process | Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. |
| response to nutrient levels | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients. |
| response to organic cyclic compound | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P11029 | ACAC | Acetyl-CoA carboxylase | Gallus gallus (Chicken) | PR |
| Q13085 | ACACA | Acetyl-CoA carboxylase 1 | Homo sapiens (Human) | PR |
| Q5SWU9 | Acaca | Acetyl-CoA carboxylase 1 | Mus musculus (Mouse) | PR |
| E9Q4Z2 | Acacb | Acetyl-CoA carboxylase 2 | Mus musculus (Mouse) | PR |
| P11497 | Acaca | Acetyl-CoA carboxylase 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVLLLCLSCL | IFSCLTFSWL | KIWGKMTDSK | PITKSKSEAN | LIPSQEPFPA | SDNSGETPQR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NGEGHTLPKT | PSQAEPASHK | GPKDAGRRRN | SLPPSHQKPP | RNPLSSSDAA | PSPELQANGT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GTQGLEATDT | NGLSSSARPQ | GQQAGSPSKE | DKKQANIKRQ | LMTNFILGSF | DDYSSDEDSV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AGSSRESTRK | GSRASLGALS | LEAYLTTGEA | ETRVPTMRPS | MSGLHLVKRG | REHKKLDLHR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DFTVASPAEF | VTRFGGDRVI | EKVLIANNGI | AAVKCMRSIR | RWAYEMFRNE | RAIRFVVMVT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PEDLKANAEY | IKMADHYVPV | PGGPNNNNYA | NVELIVDIAK | RIPVQAVWAG | WGHASENPKL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PELLCKNGVA | FLGPPSEAMW | ALGDKIASTV | VAQTLQVPTL | PWSGSGLTVE | WTEDDLQQGK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RISVPEDVYD | KGCVKDVDEG | LEAAERIGFP | LMIKASEGGG | GKGIRKAESA | EDFPILFRQV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QSEIPGSPIF | LMKLAQHARH | LEVQILADQY | GNAVSLFGRD | CSIQRRHQKI | VEEAPATIAP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LAIFEFMEQC | AIRLAKTVGY | VSAGTVEYLY | SQDGSFHFLE | LNPRLQVEHP | CTEMIADVNL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PAAQLQIAMG | VPLHRLKDIR | LLYGESPWGV | TPISFETPSN | PPLARGHVIA | ARITSENPDE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GFKPSSGTVQ | ELNFRSSKNV | WGYFSVAATG | GLHEFADSQF | GHCFSWGENR | EEAISNMVVA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LKELSIRGDF | RTTVEYLINL | LETESFQNND | IDTGWLDYLI | AEKVQAEKPD | IMLGVVCGAL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NVADAMFRTC | MTDFLHSLER | GQVLPADSLL | NLVDVELIYG | GVKYILKVAR | QSLTMFVLIM |
| 850 | 860 | 870 | 880 | 890 | 900 |
| NGCHIEIDAH | RLNDGGLLLS | YNGNSYTTYM | KEEVDSYRIT | IGNKTCVFEK | ENDPTVLRSP |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SAGKLTQYTV | EDGGHVEAGS | SYAEMEVMKM | IMTLNVQERG | RVKYIKRPGA | VLEAGCVVAR |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LELDDPSKVH | PAEPFTGELP | AQQTLPILGE | KLHQVFHSVL | ENLTNVMSGF | CLPEPVFSIK |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LKEWVQKLMM | TLRHPSLPLL | ELQEIMTSVA | GRIPAPVEKS | VRRVMAQYAS | NITSVLCQFP |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| SQQIATILDC | HAATLQRKAD | REVFFINTQS | IVQLVQRYRS | GIRGYMKTVV | LDLLRRYLRV |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| EHHFQQAHYD | KCVINLREQF | KPDMSQVLDC | IFSHAQVAKK | NQLVIMLIDE | LCGPDPSLSD |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| ELISILNELT | QLSKSEHCKV | ALRARQILIA | SHLPSYELRH | NQVESIFLSA | IDMYGHQFCP |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| ENLKKLILSE | TTIFDVLPTF | FYHANKVVCM | ASLEVYVRRG | YIAYELNSLQ | HRQLPDGTCV |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| VEFQFMLPSS | HPNRMTVPIS | ITNPDLLRHS | TELFMDSGFS | PLCQRMGAMV | AFRRFEDFTR |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| NFDEVISCFA | NVPKDTPLFS | EARTSLYSED | DCKSLREEPI | HILNVSIQCA | DHLEDEALVP |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| ILRTFVQSKK | NILVDYGLRR | ITFLIAQEKE | FPKFFTFRAR | DEFAEDRIYR | HLEPALAFQL |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| ELNRMRNFDL | TAVPCANHKM | HLYLGAAKVK | EGVEVTDHRF | FIRAIIRHSD | LITKEASFEY |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| LQNEGERLLL | EAMDELEVAF | NNTSVRTDCN | HIFLNFVPTV | IMDPFKIEES | VRYMVMRYGS |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| RLWKLRVLQA | EVKINIRQTT | TGSAVPIRLF | ITNESGYYLD | ISLYKEVTDS | RSGNIMFHSF |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| GNKQGPQHGM | LINTPYVTKD | LLQAKRFQAQ | TLGTTYIYDF | PEMFRQALFK | LWGSPDKYPK |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| DILTYTELVL | DSQGQLVEMN | RLPGGNEVGM | VAFKMRFKTQ | EYPEGRDVIV | IGNDITFRIG |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| SFGPGEDLLY | LRASEMARAE | GIPKIYVAAN | SGARIGMAEE | IKHMFHVAWV | DPEDPHKGFK |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| YLYLTPQDYT | RISSLNSVHC | KHIEEGGESR | YMITDIIGKD | DGLGVENLRG | SGMIAGESSL |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| AYEEIVTISL | VTCRAIGIGA | YLVRLGQRVI | QVENSHIILT | GASALNKVLG | REVYTSNNQL |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| GGVQIMHYNG | VSHITVPDDF | EGVYTILEWL | SYMPKDNHSP | VPIITPTDPI | DREIEFLPSR |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| APYDPRWMLA | GRPHPTLKGT | WQSGFFDHGS | FKEIMAPWAQ | TVVTGRARLG | GIPVGVIAVE |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| TRTVEVAVPA | DPANLDSEAK | IIQQAGQVWF | PDSAYKTAQA | VKDFNREKLP | LMIFANWRGF |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| SGGMKDMYDQ | VLKFGAYIVD | GLRQYKQPIL | IYIPPYAELR | GGSWVVIDAT | INPLCIEMYA |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| DKESRGGVLE | PEGTVEIKFR | KKDLIKSMRR | IDPAYKKLME | QLGEPDLSDK | DRKDLEGRLK |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| AREDLLLPIY | HQVAVQFADF | HDTPGRMLEK | GVISDILEWK | TARTFLYWRL | RRLLLEDQVK |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| QEILQASGEL | SHVHIQSMLR | RWFVETEGAV | KAYLWDNNQV | VVQWLEQHWQ | AGDGPRSTIR |
| 2410 | 2420 | 2430 | 2440 | 2450 | |
| ENITYLKHDS | VLKTIRGLVE | ENPEVAVDCV | IYLSQHISPA | ERAQVVHLLS | TMDSPAST |