Q8NFZ0
PR
Gene name |
FBH1 |
Protein name |
F-box DNA helicase 1 |
Names |
hFBH1, F-box only protein 18 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84893 |
EC number |
5.6.2.4: Enzymes altering nucleic acid conformation |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q8NFZ0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8F5Q | X-ray | 190 A | B/D/F | 56-64 | PDB |
| AF-Q8NFZ0-F1 | Predicted | AlphaFoldDB |
668 variants for Q8NFZ0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA174778 RCV000149320 rs193921138 COSM1179583 |
703 | R>W | Malignant tumor of prostate Variant assessed as Somatic; impact. prostate [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs749684124 CA5395940 |
2 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA5395941 rs184687585 |
3 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA202273087 rs1008730559 |
3 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1589057604 CA375927520 |
4 | F>V | No |
ClinGen Ensembl |
|
|
CA375927537 rs142553018 |
6 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5395944 rs142553018 |
6 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148568216 CA5395943 |
6 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5395945 rs371000576 |
8 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375927554 rs1434933204 |
9 | L>V | No |
ClinGen gnomAD |
|
|
CA5395946 rs568421235 |
10 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375927563 rs1369803376 |
10 | T>I | No |
ClinGen gnomAD |
|
|
CA375927581 rs1430326770 |
13 | D>G | No |
ClinGen gnomAD |
|
|
rs1294943337 CA375927603 |
16 | H>D | No |
ClinGen TOPMed |
|
|
rs1363448208 CA375927618 |
18 | A>S | No |
ClinGen gnomAD |
|
|
CA202273130 rs146471049 |
18 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs759382233 CA5395949 |
19 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5395948 rs140792473 |
19 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369299159 CA375927635 |
21 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1369299159 CA375927636 |
21 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1382855247 CA375927645 |
22 | L>F | No |
ClinGen TOPMed |
|
|
rs765214132 CA5395950 |
23 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs999418257 CA202273152 |
23 | A>V | No |
ClinGen Ensembl |
|
|
CA375927655 rs1296217031 |
24 | V>A | No |
ClinGen gnomAD |
|
|
CA375927665 rs1387347368 |
26 | Q>E | No |
ClinGen TOPMed |
|
|
CA375927673 rs1229766627 |
27 | P>S | No |
ClinGen gnomAD |
|
|
rs759568591 CA5395952 |
29 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5395953 rs763474628 |
29 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751089693 CA5395954 |
30 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375927691 rs1247452830 |
30 | Q>K | No |
ClinGen gnomAD |
|
|
rs535519935 CA5395955 |
32 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5395956 rs781049745 |
32 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA202273162 rs866114650 |
33 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA375927711 rs866114650 |
33 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs754252658 CA5395957 |
34 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA202273178 rs893630215 |
35 | R>G | No |
ClinGen TOPMed |
|
|
CA5395958 rs755433111 |
37 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs114503920 CA5395959 |
37 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA202273189 rs755433111 |
37 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs772665760 CA5395961 |
39 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs777644261 CA5395962 |
41 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA375927777 rs1436690322 |
43 | P>H | No |
ClinGen gnomAD |
|
|
CA5395964 rs146742156 |
43 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146742156 CA375927773 |
43 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375927778 rs1328312485 |
44 | K>Q | No |
ClinGen TOPMed |
|
|
rs776902652 CA5395965 |
45 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375927789 rs776902652 |
45 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776902652 CA375927790 |
45 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354878453 CA375927786 |
45 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 46 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323941896 CA375927793 |
46 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 47 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1337645684 CA375927802 |
47 | T>K | No |
ClinGen gnomAD |
|
|
rs769430099 CA5395967 |
49 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA375927822 rs1417712572 |
50 | G>E | No |
ClinGen TOPMed |
|
|
rs140405526 CA5395968 |
50 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 52 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375927831 rs1476696259 |
52 | R>G | No |
ClinGen TOPMed |
|
|
rs202040166 CA5395988 |
53 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5395987 rs202040166 |
53 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375928780 rs1377811444 |
54 | Q>E | No |
ClinGen gnomAD |
|
|
CA375928803 rs1404123901 |
56 | S>N | No |
ClinGen TOPMed |
|
|
rs1174118362 CA375928816 |
57 | Q>P | No |
ClinGen TOPMed |
|
|
rs1288106881 CA375928834 |
58 | R>S | No |
ClinGen gnomAD |
|
|
CA5395992 rs767086074 |
59 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5395990 rs76126880 |
59 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs760178895 CA5395993 |
60 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs60670017 CA5395995 |
61 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs868865045 CA202275019 |
66 | A>T | No |
ClinGen gnomAD |
|
|
CA5395999 rs752014466 |
68 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs138022663 CA202275029 |
68 | K>R | No |
ClinGen ESP TOPMed |
|
|
rs757794902 CA5396000 |
69 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1026459947 CA202275038 |
70 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5396001 rs199982161 |
70 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756277826 CA5396003 |
72 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs780390680 CA5396004 |
72 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1046742348 CA202275046 |
74 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768546679 CA5396006 |
78 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5396005 rs749006917 |
78 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs774307717 CA5396007 |
81 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1393535890 CA375929007 |
81 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1393535890 CA375929009 |
81 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5396008 rs574280209 |
84 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375929030 rs574280209 |
84 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373956188 CA5396009 |
86 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5396010 rs772790097 |
87 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs760286308 CA5396011 |
87 | Q>R | No |
ClinGen ExAC |
|
|
rs368109604 CA5396012 |
89 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1227547741 CA375929070 |
90 | E>A | No |
ClinGen gnomAD |
|
|
CA202275068 rs886765996 |
93 | M>V | No |
ClinGen gnomAD |
|
|
rs776383400 CA5396013 |
94 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334448995 CA375929100 |
94 | I>T | No |
ClinGen TOPMed |
|
|
rs1016517517 CA202275082 |
96 | P>L | No |
ClinGen TOPMed |
|
|
rs764404961 CA5396015 |
96 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1451814987 CA375929120 |
97 | A>V | No |
ClinGen gnomAD |
|
|
CA5396016 rs751929668 |
98 | E>A | No |
ClinGen ExAC |
|
|
rs762254424 CA375929136 |
100 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762254424 CA5396017 |
100 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245640156 CA375929156 |
102 | A>V | No |
ClinGen gnomAD |
|
|
rs1168460393 CA375929160 |
103 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA375929159 rs1168460393 |
103 | L>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 104 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375929198 rs1390553020 |
109 | A>T | No |
ClinGen gnomAD |
|
|
CA5396021 rs138401972 |
110 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5396022 rs143782854 |
111 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA202275109 rs143782854 |
111 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA202275115 rs143782854 |
111 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs923339002 CA202275122 |
112 | G>V | No |
ClinGen TOPMed |
|
|
rs1434505092 CA375929238 |
116 | S>C | No |
ClinGen gnomAD |
|
|
CA5396023 rs556814164 |
118 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148367099 CA5396025 |
120 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375929262 rs148367099 |
120 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1348367 CA375929279 rs1312625993 |
123 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA5396027 rs777921186 |
125 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375929302 rs1211229439 |
126 | S>F | No |
ClinGen gnomAD |
|
|
CA5396028 rs746466502 |
127 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202275145 rs796644562 |
127 | S>F | No |
ClinGen TOPMed |
|
|
rs373590165 CA202275149 |
128 | E>G | No |
ClinGen ESP TOPMed |
|
|
rs1317810663 CA375929407 |
134 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA375929415 rs1589064771 |
135 | T>P | No |
ClinGen Ensembl |
|
|
rs748533038 CA5396030 |
136 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759164198 CA5396031 |
137 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5396032 rs578126156 |
137 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375929462 rs1368233626 |
139 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375929461 rs1368233626 |
139 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5396033 rs150913018 |
139 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1188744833 CA375929472 |
140 | W>* | No |
ClinGen TOPMed |
|
|
CA5396035 rs767981499 |
141 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5396034 rs545497071 |
141 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750988878 CA5396036 |
142 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA375929499 rs750988878 |
142 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1399141841 CA375929509 |
143 | V>G | No |
ClinGen Ensembl |
|
|
CA375929505 rs1564439612 |
143 | V>L | No |
ClinGen Ensembl |
|
|
CA375929520 rs1241009936 |
144 | S>F | No |
ClinGen TOPMed |
|
|
rs1221734441 CA375929522 |
145 | K>E | No |
ClinGen TOPMed |
|
|
rs761110537 CA5396037 |
146 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755192280 CA375929565 |
149 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208269688 CA375929575 |
149 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5396040 rs755192280 COSM919128 |
149 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs752531900 CA5396042 |
151 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA202275169 rs758304318 |
153 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758304318 CA5396043 |
153 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777546393 CA5396044 |
154 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5396045 rs777546393 |
154 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5396047 rs780697016 |
156 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA5396048 rs745428782 |
157 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA375929750 rs1424712384 |
157 | T>I | No |
ClinGen gnomAD |
|
|
CA5396049 rs769432989 |
159 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA375929897 rs1472379210 |
162 | A>V | No |
ClinGen gnomAD |
|
|
CA202275197 rs746993373 |
164 | Q>K | No |
ClinGen Ensembl |
|
|
CA5396050 rs368256849 |
166 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375930020 rs1347003753 |
167 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs937670689 CA202275202 |
167 | E>Q | No |
ClinGen TOPMed |
|
|
rs762146468 CA5396051 |
168 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA202275208 rs1056166310 |
168 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1416325476 CA375930058 |
169 | S>G | No |
ClinGen gnomAD |
|
|
rs773482471 CA5396053 |
170 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5396056 rs145958035 |
172 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5396055 COSM1348368 rs143001244 |
172 | R>W | Variant assessed as Somatic; 4.623e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs887914766 CA202275220 |
173 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5396057 rs759756063 |
175 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA375930240 rs753016172 |
177 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA5396059 rs753016172 |
177 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1213713919 CA375930232 |
177 | S>P | No |
ClinGen gnomAD |
|
|
CA5396060 rs143135958 |
178 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201826348 CA5396063 |
181 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5396064 rs781058434 |
182 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs956119911 CA202275250 |
185 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs148412195 CA5396067 |
187 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148412195 CA5396068 |
187 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5396069 rs768195671 |
188 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA375930492 rs1410242364 |
190 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 190 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299479107 CA375930550 |
192 | I>S | No |
ClinGen gnomAD |
|
|
rs773564759 CA5396070 |
193 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1296644482 CA375930586 |
195 | S>T | No |
ClinGen Ensembl |
|
|
rs747387980 CA5396071 |
197 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA202275274 rs747387980 |
197 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs771460384 CA5396072 |
198 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 200 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375930704 rs1273139939 |
200 | L>V | No |
ClinGen gnomAD |
|
|
CA375930784 rs1404562933 |
203 | L>F | No |
ClinGen TOPMed |
|
|
rs1205673672 CA375930776 |
203 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA375930798 rs1374405209 |
204 | P>L | No |
ClinGen TOPMed |
|
|
rs759665021 CA5396074 |
208 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs765357893 CA5396075 |
208 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1190894053 CA375930882 |
209 | L>Q | No |
ClinGen gnomAD |
|
|
rs543972657 CA5396077 |
210 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5396078 rs764281895 |
212 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs757042167 CA5396080 |
217 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs562318090 CA5396081 |
217 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM919129 CA202275326 rs1020383629 |
223 | V>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 224 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5396083 rs756079210 |
225 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967426542 CA202275352 |
228 | P>L | No |
ClinGen TOPMed |
|
|
CA202275348 rs967426542 |
228 | P>R | No |
ClinGen TOPMed |
|
|
CA202275344 rs759390908 |
228 | P>T | No |
ClinGen Ensembl |
|
|
CA375931241 rs1372485144 |
229 | V>A | No |
ClinGen gnomAD |
|
|
CA202275361 rs937906290 |
230 | E>K | No |
ClinGen TOPMed |
|
|
rs748808071 CA5396085 |
231 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs373039906 CA5396086 |
233 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5396087 rs778493610 |
234 | W>* | No |
ClinGen ExAC |
|
|
CA5396089 rs771249082 |
236 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs964021827 CA202275378 |
238 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1320348099 CA375931465 |
238 | L>S | No |
ClinGen gnomAD |
|
|
rs1274075308 CA375931493 |
239 | V>L | No |
ClinGen gnomAD |
|
|
rs539197525 CA202275382 |
241 | H>D | No |
ClinGen Ensembl |
|
|
rs746335782 CA5396091 |
242 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375931622 rs1186771868 |
244 | R>K | No |
ClinGen gnomAD |
|
|
rs975726009 CA202275391 |
250 | P>Q | No |
ClinGen gnomAD |
|
|
CA375931760 rs1564440281 |
250 | P>S | No |
ClinGen Ensembl |
|
|
CA375932577 rs1313867594 |
260 | H>R | No |
ClinGen gnomAD |
|
|
rs753818889 CA5396120 |
261 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA375932595 rs1351430519 |
263 | L>V | No |
ClinGen gnomAD |
|
|
CA375932604 rs1472803175 |
264 | M>T | No |
ClinGen TOPMed |
|
|
rs1225548225 CA375932704 |
271 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA202276925 rs533548127 |
272 | K>R | No |
ClinGen gnomAD |
|
|
CA375932742 rs1441763002 |
273 | V>G | No |
ClinGen gnomAD |
|
|
rs764610876 CA5396122 |
275 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1481975385 CA375932768 |
275 | G>V | No |
ClinGen gnomAD |
|
|
CA375932791 rs1180960227 |
278 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5396123 rs151020781 |
279 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5396124 rs757975624 |
280 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423940042 CA375932867 |
283 | E>G | No |
ClinGen gnomAD |
|
|
rs1170303421 CA375932857 |
283 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5396125 rs777637137 |
285 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs989788723 CA202276947 |
285 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 290 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5396129 rs749721567 |
294 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344465270 CA375933033 |
295 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM1474679 CA375933034 rs1234897268 |
295 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA5396151 rs779536901 |
297 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5396152 rs370139924 |
297 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5396153 rs758518558 |
299 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1373967180 CA375933161 |
300 | T>A | No |
ClinGen gnomAD |
|
|
CA375933182 rs1463882899 |
301 | K>M | No |
ClinGen gnomAD |
|
|
CA375933194 rs771828870 |
302 | C>G | No |
ClinGen TOPMed |
|
|
rs771828870 CA202277133 |
302 | C>R | No |
ClinGen TOPMed |
|
|
COSM465783 rs201500988 CA5396154 |
302 | C>Y | kidney Variant assessed as Somatic; 0.0004239 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA375933218 rs1394045214 |
303 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs184032310 CA5396155 |
304 | P>L | Variant assessed as Somatic; 4.705e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs776229671 CA5396157 |
305 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs745743886 CA5396158 |
306 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA375933264 rs1296242813 |
307 | D>N | No |
ClinGen gnomAD |
|
|
rs1191594773 CA375933290 |
308 | P>S | No |
ClinGen TOPMed |
|
|
CA375933306 rs1242355352 |
309 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5396161 rs763007488 |
311 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs775547742 CA5396160 |
311 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA375933433 rs1564443261 |
314 | S>C | No |
ClinGen Ensembl |
|
|
CA375933480 rs1258863186 |
317 | D>Y | No |
ClinGen TOPMed |
|
|
rs1342605929 CA375933525 |
319 | P>H | No |
ClinGen Ensembl |
|
| TCGA novel | 319 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5396167 rs754146045 |
322 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs765636339 COSM1297330 CA5396169 |
323 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5396170 rs753195307 |
324 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs758934667 CA5396171 |
326 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777764287 CA5396172 |
326 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1400693289 CA375933638 |
327 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs757455090 CA5396174 |
329 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs573293139 CA375933671 |
329 | R>W | No |
ClinGen gnomAD |
|
|
CA202277273 rs890169612 |
331 | H>R | No |
ClinGen Ensembl |
|
|
rs745630568 CA5396176 COSM179344 |
333 | P>L | large_intestine Variant assessed as Somatic; 5.199e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5396178 rs779746048 |
334 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs367743823 CA202277296 |
334 | D>N | No |
ClinGen ESP gnomAD |
|
|
rs367743823 CA375933749 |
334 | D>Y | No |
ClinGen ESP gnomAD |
|
|
CA375933777 rs1564443431 |
335 | L>F | No |
ClinGen Ensembl |
|
|
CA375933799 rs1239156596 |
336 | Y>C | No |
ClinGen gnomAD |
|
|
CA375933814 rs1261759415 |
337 | A>T | No |
ClinGen gnomAD |
|
|
rs1589072470 CA375933840 |
339 | A>T | No |
ClinGen Ensembl |
|
|
rs1487137041 CA375933845 |
339 | A>V | No |
ClinGen gnomAD |
|
|
rs761484939 CA5396182 |
340 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1486227909 CA375933861 |
340 | G>V | No |
ClinGen gnomAD |
|
|
CA5396203 rs770503086 |
341 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375934037 rs1300604356 |
342 | V>I | No |
ClinGen Ensembl |
|
|
rs1299571259 CA375934044 |
343 | N>D | No |
ClinGen gnomAD |
|
|
CA5396204 rs775817067 |
344 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763373387 CA5396205 |
346 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375934075 rs1303225851 |
347 | L>R | No |
ClinGen gnomAD |
|
|
rs374655960 CA5396206 COSM281089 |
349 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 351 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375934104 rs1589076374 |
352 | V>G | No |
ClinGen Ensembl |
|
|
CA375934101 rs1230333406 |
352 | V>M | No |
ClinGen TOPMed |
|
|
CA375934107 rs1362375459 |
353 | L>F | No |
ClinGen TOPMed |
|
|
CA375934106 rs1362375459 |
353 | L>V | No |
ClinGen TOPMed |
|
|
rs900833684 CA202280598 |
359 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA202280596 rs923312293 |
359 | N>Y | No |
ClinGen Ensembl |
|
|
CA375934160 rs1253319149 |
361 | I>V | No |
ClinGen gnomAD |
|
|
rs750485960 CA5396210 |
362 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202280607 rs933769365 |
363 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA202280611 rs566953806 |
363 | R>Q | No |
ClinGen TOPMed |
|
|
rs754866256 CA5396214 |
369 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs753658524 CA5396213 |
369 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375934240 rs1172007566 |
371 | P>S | No |
ClinGen gnomAD |
|
|
CA202280624 rs929332974 |
372 | S>R | No |
ClinGen Ensembl |
|
|
CA375934284 rs1325975105 |
374 | T>M | No |
ClinGen gnomAD |
|
|
CA375934275 rs1460654680 |
374 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
COSM3686792 CA202280625 rs1052175453 |
375 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1215537017 CA375934315 |
377 | M>T | No |
ClinGen gnomAD |
|
|
CA5396218 rs777278281 |
377 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA375934332 rs1564445368 |
378 | P>S | No |
ClinGen Ensembl |
|
|
rs1198043089 CA375934342 |
379 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 380 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746558346 CA5396219 |
380 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA375934373 rs1340597635 |
381 | T>I | No |
ClinGen TOPMed |
|
|
CA5396221 rs376789491 |
382 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA202280637 rs761666628 |
383 | T>N | No |
ClinGen gnomAD |
|
|
CA202280642 rs941910882 |
386 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs745544329 CA5396222 |
387 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762327572 CA5396225 |
389 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375934462 rs762327572 |
389 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415466719 CA375934496 |
391 | L>P | No |
ClinGen gnomAD |
|
|
CA5396227 rs143815430 |
392 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1419338606 CA375934515 |
393 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 396 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 400 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375934659 rs1397030972 |
402 | S>N | No |
ClinGen TOPMed |
|
|
CA202281850 rs912547395 |
407 | Y>C | No |
ClinGen Ensembl |
|
|
rs759770395 CA5396249 |
408 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1180708272 CA375935568 |
408 | N>S | No |
ClinGen gnomAD |
|
|
rs1232922654 CA375935610 |
411 | Y>C | No |
ClinGen gnomAD |
|
|
CA5396251 rs370467996 |
414 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs868157331 CA202281854 |
417 | E>K | No |
ClinGen Ensembl |
|
|
rs142910031 CA375935727 |
422 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5396252 rs142910031 |
422 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375935735 rs1589082375 |
423 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 424 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA202281865 rs931151755 |
424 | T>R | No |
ClinGen Ensembl |
|
|
CA5396253 rs146129769 |
425 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 425 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs538536216 CA5396254 |
426 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs538536216 CA375935766 |
426 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375935784 rs1422887103 |
428 | E>K | No |
ClinGen TOPMed |
|
|
rs780624186 CA5396256 |
430 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757193568 CA5396255 |
430 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs377557899 CA5396257 |
432 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375935828 rs377557899 |
432 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375935837 rs1313446432 |
433 | W>G | No |
ClinGen gnomAD |
|
|
CA375935841 rs916361150 |
433 | W>L | No |
ClinGen gnomAD |
|
|
rs916361150 CA202281885 |
433 | W>S | No |
ClinGen gnomAD |
|
|
rs755762667 CA5396258 |
434 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5396284 rs542028775 |
436 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5396285 rs542028775 |
436 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1163104514 CA375935956 |
440 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5396286 rs747433477 |
443 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1379102886 CA375936001 |
443 | H>Q | No |
ClinGen TOPMed |
|
|
rs1382707884 CA375936048 |
446 | Q>* | No |
ClinGen gnomAD |
|
|
CA5396287 rs771558987 |
446 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 448 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5396288 rs781774174 |
450 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 451 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA202282093 rs78797171 |
451 | H>Q | No |
ClinGen Ensembl |
|
|
rs768814356 CA5396289 |
453 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768814356 CA5396290 |
453 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375936158 rs139848196 |
454 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5396291 rs139848196 |
454 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375936183 rs1292316424 |
455 | P>R | No |
ClinGen gnomAD |
|
|
rs774015746 CA5396294 |
466 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs748395491 CA5396313 |
468 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5396315 rs772992338 |
470 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs760467325 CA5396316 |
471 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA5396317 rs766395662 |
472 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 472 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375936971 rs1391478478 |
475 | K>Q | No |
ClinGen gnomAD |
|
|
rs764773690 CA5396320 |
477 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752348124 CA5396321 |
483 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202282756 rs994751274 |
483 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA375937094 rs1260421365 |
487 | Y>C | No |
ClinGen TOPMed |
|
|
rs1342065424 CA375937090 |
487 | Y>H | No |
ClinGen gnomAD |
|
|
rs767936883 CA5396323 |
488 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5396325 rs150757481 |
492 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780654127 CA5396326 |
493 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA202282814 rs965333623 |
495 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA375937172 COSM919131 rs1192975233 |
499 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5396330 rs748299182 |
500 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1043995211 CA202282823 |
500 | R>H | No |
ClinGen Ensembl |
|
|
CA5396331 rs748299182 |
500 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5396333 rs139026492 |
501 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375937207 rs1462238911 |
504 | S>T | No |
ClinGen gnomAD |
|
|
rs1391716724 CA375937219 |
506 | V>I | No |
ClinGen gnomAD |
|
|
CA5396337 rs779016714 |
507 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs529344461 CA5396338 |
509 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375937241 rs1221297435 |
509 | K>R | No |
ClinGen gnomAD |
|
|
CA5396339 rs762682357 |
510 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1307122201 CA375937274 |
514 | M>L | No |
ClinGen gnomAD |
|
|
CA5396341 rs368766687 |
517 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA202282848 rs993191929 |
517 | G>R | No |
ClinGen gnomAD |
|
|
CA5396342 rs201614515 |
518 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 520 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5396344 rs149880430 |
521 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375937320 rs1564449584 |
521 | R>W | No |
ClinGen Ensembl |
|
|
CA5396362 rs145041012 |
523 | Y>* | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 523 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5396363 rs754162591 |
524 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA375937404 rs1300202340 |
531 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA375937442 rs1414460625 |
536 | P>L | No |
ClinGen gnomAD |
|
|
CA5396365 rs765796603 |
538 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5396366 rs752739979 |
540 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5396367 rs758520739 |
542 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1218509683 CA375937537 |
546 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 547 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5396369 rs751764838 |
548 | G>R | No |
ClinGen ExAC |
|
|
rs757425185 CA5396370 |
548 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375937568 rs1307511310 |
549 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs745718519 CA5396372 |
551 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA375937606 rs1468176503 |
552 | R>T | No |
ClinGen gnomAD |
|
|
rs769824731 CA375937631 |
554 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5396375 rs749263259 |
561 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5396376 rs769534923 |
563 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5396377 rs773741923 |
566 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 569 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359071995 CA375937817 |
572 | T>N | No |
ClinGen TOPMed |
|
|
CA5396380 rs777045272 |
573 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA375937850 rs1242288657 |
576 | V>M | No |
ClinGen gnomAD |
|
|
CA202283192 COSM74631 rs765708557 |
578 | I>F | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 578 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5396382 rs765708557 |
578 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs74772027 CA202283197 |
580 | C>* | No |
ClinGen Ensembl |
|
|
CA375937930 rs1413604684 |
581 | K>R | No |
ClinGen TOPMed |
|
|
CA375937951 rs1340555686 |
583 | S>T | No |
ClinGen TOPMed |
|
|
rs1299504666 CA375937996 |
586 | Q>R | No |
ClinGen TOPMed |
|
|
rs1397687120 CA375938016 |
587 | R>T | No |
ClinGen TOPMed |
|
|
rs973134741 CA202283203 |
589 | M>L | No |
ClinGen gnomAD |
|
|
rs1188148932 CA375938077 |
592 | Q>R | No |
ClinGen gnomAD |
|
|
CA5396404 rs374206202 |
598 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1248867753 CA375938228 |
604 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5396405 rs775835608 |
604 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764576065 CA5396407 |
605 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5396409 rs761848619 |
607 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201914209 CA375938265 |
609 | M>T | No |
ClinGen TOPMed |
|
|
CA5396410 rs367725540 |
610 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs750636429 CA5396411 |
612 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs753748498 CA5396414 |
613 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs766223384 CA5396413 |
613 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1414780887 CA375938292 |
614 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs754935013 CA5396415 |
615 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5396416 rs778753103 |
616 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777371692 CA5396419 |
619 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760986453 CA5396421 |
620 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375938339 rs1193134982 |
621 | Q>* | No |
ClinGen gnomAD |
|
|
rs1193134982 CA375938337 |
621 | Q>K | No |
ClinGen gnomAD |
|
|
CA5396423 rs749693781 |
626 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1589091579 CA375938414 |
629 | K>N | No |
ClinGen Ensembl |
|
|
CA202283896 rs1038486221 |
630 | L>F | No |
ClinGen Ensembl |
|
|
rs771260332 CA5396447 |
636 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776948225 CA5396448 |
637 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA202283902 rs113164443 |
637 | S>P | No |
ClinGen Ensembl |
|
|
CA202283910 rs151285656 |
638 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA202283914 rs1046913824 |
641 | F>S | No |
ClinGen Ensembl |
|
|
CA5396453 rs150404126 |
643 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751046485 CA5396454 |
644 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762855538 CA5396471 |
659 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs774230947 CA5396473 |
671 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA375938727 rs1465690901 |
672 | D>H | No |
ClinGen gnomAD |
|
|
CA5396474 rs761741299 |
673 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750005280 CA5396476 |
676 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1388704313 CA375938825 |
681 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5396477 rs755714706 |
681 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1276549833 CA375938838 |
682 | G>V | No |
ClinGen gnomAD |
|
|
rs866331258 CA202284329 |
683 | A>V | No |
ClinGen Ensembl |
|
|
CA5396480 rs758790238 |
685 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA375938865 rs1319822702 |
686 | A>T | No |
ClinGen gnomAD |
|
|
rs1489357871 CA375938882 |
687 | L>P | No |
ClinGen gnomAD |
|
|
CA202284362 rs1016529252 |
688 | F>L | No |
ClinGen TOPMed |
|
|
CA5396484 rs781119951 |
689 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs913816304 CA202284372 |
690 | V>M | No |
ClinGen Ensembl |
|
|
CA5396487 rs779157463 COSM919134 |
695 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs779157463 CA375938960 |
695 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5396489 rs768371890 |
697 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138946203 CA5396488 |
697 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 698 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375939464 rs1238742468 |
706 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375939484 rs1162208037 |
708 | I>V | No |
ClinGen TOPMed |
|
|
rs756590898 CA5396523 |
709 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375939497 rs756590898 |
709 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177337775 CA375939501 |
709 | A>V | No |
ClinGen gnomAD |
|
|
CA375939513 rs1440702813 |
710 | Y>* | No |
ClinGen gnomAD |
|
|
rs780167645 CA5396524 |
710 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs755158548 CA5396526 |
715 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 721 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 725 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5396528 rs748387326 |
728 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs41290319 CA202285863 |
729 | G>V | No |
ClinGen Ensembl |
|
| TCGA novel | 731 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5396530 rs777436642 |
732 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202285923 rs1052807638 |
736 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5396543 rs374775023 |
737 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5396547 rs540027734 |
740 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs540027734 CA5396546 |
740 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA202285968 rs751400052 |
741 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 741 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 745 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746848362 CA5396550 |
746 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs757188838 CA5396551 |
747 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA375939941 rs1198128069 |
749 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA375939971 rs1426909934 |
752 | A>G | No |
ClinGen TOPMed |
|
|
CA5396553 rs144472860 |
752 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376125948 CA5396554 |
753 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1007328092 CA202285990 |
755 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1477003460 CA375940026 |
757 | E>K | No |
ClinGen gnomAD |
|
|
rs768258875 CA5396557 |
759 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768258875 CA375940047 |
759 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760991921 CA5396559 |
760 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA375940055 rs1476324073 |
760 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA202286011 rs79716153 |
761 | V>L | No |
ClinGen Ensembl |
|
|
rs1224323254 CA375940090 |
763 | E>D | No |
ClinGen TOPMed |
|
|
CA375940147 rs1304790509 |
769 | R>G | No |
ClinGen gnomAD |
|
|
rs774907076 CA202286046 |
771 | H>Y | No |
ClinGen TOPMed |
|
|
CA5396583 rs776998291 |
776 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA375940629 rs1317554956 |
780 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs760026134 CA5396584 |
780 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA202287174 rs556256147 |
785 | I>F | No |
ClinGen 1000Genomes |
|
|
rs201863753 CA5396585 |
787 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487005403 COSM229140 CA375940719 |
793 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA375940745 rs1255601396 |
796 | E>D | No |
ClinGen gnomAD |
|
|
rs1442907395 CA375940751 |
797 | R>Q | No |
ClinGen gnomAD |
|
|
CA375940752 rs1220804639 |
798 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 798 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236088581 CA375940769 COSM297874 |
800 | Q>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs577703281 CA5396607 |
801 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375940803 rs1564458162 |
803 | V>A | No |
ClinGen Ensembl |
|
|
CA5396608 rs774547721 |
803 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs868681230 CA202287693 |
805 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5396610 rs767890181 |
806 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs750217662 CA5396611 |
808 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA375940858 rs1225427257 |
811 | R>T | No |
ClinGen gnomAD |
|
|
CA375940875 rs1459523503 |
813 | V>A | No |
ClinGen gnomAD |
|
|
CA5396614 rs199605113 |
819 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754959853 CA5396615 |
819 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA375940915 rs199605113 |
819 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375940921 rs1487386678 |
820 | G>S | No |
ClinGen gnomAD |
|
|
CA5396618 rs758017635 |
822 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA375940943 rs777452044 |
823 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770104196 CA5396621 |
824 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA375940956 rs1171766696 |
825 | V>M | No |
ClinGen gnomAD |
|
|
CA5396622 rs780472383 |
826 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589105584 CA375940962 |
826 | T>P | No |
ClinGen Ensembl |
|
|
rs769272294 CA5396624 COSM3415123 |
827 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5396625 rs147442889 |
827 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1339981235 CA375941015 |
834 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 836 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560745981 CA375941042 |
837 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5396629 rs760980112 |
837 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA5396631 rs79624590 |
838 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375941069 rs1220550196 |
842 | K>E | No |
ClinGen gnomAD |
|
|
rs1356013828 CA375941073 |
842 | K>T | No |
ClinGen TOPMed |
|
|
rs1292278047 CA375941089 |
844 | N>T | No |
ClinGen gnomAD |
|
|
rs765263513 CA5396633 |
849 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1261782276 CA375941131 |
851 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 855 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 856 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763627717 CA5396636 |
857 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1315202942 CA375941193 |
859 | I>T | No |
ClinGen TOPMed |
|
|
CA5396637 rs751148336 |
859 | I>V | No |
ClinGen ExAC |
|
|
CA375941240 rs1355334038 |
865 | A>V | No |
ClinGen TOPMed |
|
|
CA375941616 rs1321421812 |
871 | T>A | No |
ClinGen gnomAD |
|
|
CA375941619 rs1364538700 |
871 | T>N | No |
ClinGen gnomAD |
|
|
rs1284589707 CA375941636 |
873 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1284589707 CA375941638 |
873 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5396677 rs750021637 |
881 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA375941737 rs1340751133 |
883 | V>M | No |
ClinGen gnomAD |
|
|
rs765680390 CA5396679 |
884 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs753181994 CA5396680 |
887 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 888 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750345379 CA5396681 |
890 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375941852 rs1212400120 |
894 | C>R | No |
ClinGen gnomAD |
|
|
CA375941873 rs1335972667 |
896 | R>Q | No |
ClinGen TOPMed |
|
|
rs764751665 CA202288509 |
896 | R>W | No |
ClinGen gnomAD |
|
|
CA5396683 rs752031835 |
898 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs781136363 CA5396685 |
900 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1373570272 CA375941908 |
900 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5396687 rs770061204 |
903 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375941928 rs770061204 |
903 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202288579 rs976259851 |
904 | H>Y | No |
ClinGen Ensembl |
|
|
CA375941952 rs1358008162 |
907 | V>I | No |
ClinGen gnomAD |
|
|
CA5396713 rs746569068 |
911 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 911 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375942598 rs1236184161 |
921 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1236184161 CA375942597 |
921 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs764461365 CA5396717 |
924 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 925 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 927 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM380076 rs774638319 CA202291932 |
928 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs774638319 CA5396718 |
928 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5396720 COSM1686110 rs770675963 |
928 | R>H | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774638319 CA5396719 |
928 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750960605 CA5396721 |
930 | I>V | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1037339041 CA202291949 |
931 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
| TCGA novel | 931 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 932 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372853614 CA5396722 |
933 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs182156474 CA5396723 |
933 | K>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375942737 rs1205505141 |
943 | G>E | No |
ClinGen gnomAD |
|
|
CA5396758 rs771465282 |
946 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148961372 CA5396759 |
947 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5396761 rs765392340 |
949 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 950 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384696281 CA375943315 |
950 | E>G | No |
ClinGen Ensembl |
|
|
rs763968088 CA5396764 |
953 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs757231067 CA375943342 |
954 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM239844 CA5396765 rs751467163 |
954 | N>S | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM3686968 CA5396767 rs141977640 |
955 | V>I | Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 958 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748874340 CA5396771 |
960 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs200231278 CA202296982 |
960 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200231278 CA5396770 |
960 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5396773 rs151032401 |
962 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1325623117 CA375943389 |
962 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM179360 rs371208439 CA5396775 |
965 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5396776 rs777086252 |
966 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1293026559 CA375943432 |
969 | N>H | No |
ClinGen TOPMed |
|
|
CA5396777 rs760096293 |
970 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs372861811 CA5396778 |
971 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1403092952 CA375943460 |
973 | P>A | No |
ClinGen TOPMed |
|
|
rs1451635330 CA375943481 |
976 | T>A | No |
ClinGen gnomAD |
|
|
CA375943486 rs1384514333 |
977 | V>I | No |
ClinGen gnomAD |
|
|
CA5396780 rs763081689 |
980 | M>V | No |
ClinGen ExAC TOPMed |
|
|
CA5396781 rs201012273 |
982 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202297053 rs907011163 |
983 | L>P | No |
ClinGen TOPMed |
|
|
rs915735858 CA202297059 |
984 | P>S | No |
ClinGen gnomAD |
|
|
CA375943536 rs1217386244 |
985 | I>V | No |
ClinGen gnomAD |
|
|
rs761658813 CA5396783 |
986 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1460402955 CA375943551 |
987 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA375943552 rs1460402955 |
987 | Y>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 988 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300705320 CA375943577 |
989 | N>Y | No |
ClinGen gnomAD |
|
|
CA375943587 rs1220289526 |
990 | R>K | No |
ClinGen TOPMed |
|
|
rs939857197 CA202297356 |
991 | K>E | No |
ClinGen TOPMed |
|
|
CA202297357 rs991132423 |
991 | K>R | No |
ClinGen gnomAD |
|
|
CA375943596 rs1284465555 |
992 | E>K | No |
ClinGen gnomAD |
|
|
rs1022640592 CA375943619 |
994 | K>N | No |
ClinGen gnomAD |
|
|
rs1347825987 CA375943617 |
994 | K>R | No |
ClinGen gnomAD |
|
|
rs781406766 CA5396812 |
995 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438561063 CA375943629 |
996 | G>A | No |
ClinGen gnomAD |
|
|
CA375943634 rs1589129428 |
997 | Y>S | No |
ClinGen Ensembl |
|
|
rs1200314573 CA375943665 |
1001 | S>C | No |
ClinGen gnomAD |
|
|
rs749762089 CA5396816 |
1003 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1337845136 CA375943699 |
1006 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs939883919 CA202297390 |
1007 | I>L | No |
ClinGen Ensembl |
|
|
rs1224521386 CA375943708 |
1008 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1589129532 CA375943726 |
1011 | A>S | No |
ClinGen Ensembl |
|
|
rs1364639202 CA375943730 |
1011 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs772859182 CA202297393 |
1014 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs772859182 CA5396821 |
1014 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1015 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5396822 rs760468220 |
1016 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1429261270 CA375943754 |
1016 | S>T | No |
ClinGen gnomAD |
|
|
CA5396823 rs760468220 |
1016 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs202185822 CA5396824 |
1017 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139020596 CA5396825 |
1018 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1359045727 CA375943769 |
1018 | E>D | No |
ClinGen gnomAD |
|
|
CA375943771 rs1425934982 |
1019 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA375943778 rs1407928480 |
1020 | V>M | No |
ClinGen TOPMed |
|
|
CA5396827 rs764714926 |
1021 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5396826 rs764714926 |
1021 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5396828 rs754102686 |
1021 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1022 | A>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5396830 rs751196575 |
1022 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1164517116 CA375943805 |
1024 | E>G | No |
ClinGen gnomAD |
|
|
rs756463517 CA5396831 |
1025 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5396832 rs780293728 |
1025 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375943825 rs1184081697 |
1028 | E>K | No |
ClinGen TOPMed |
|
|
rs368348869 CA5396836 |
1030 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1382179277 CA375943847 |
1031 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA375943866 rs1318263671 |
1034 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA375943865 rs1204665937 |
1034 | R>W | No |
ClinGen TOPMed |
|
|
rs1219217428 CA375943891 |
1038 | L>M | No |
ClinGen TOPMed |
|
|
CA375943904 rs1280722730 |
1040 | F>L | No |
ClinGen TOPMed |
|
|
CA5396840 rs770703881 COSM325330 |
1042 | V>I | lung large_intestine prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
1 associated diseases with Q8NFZ0
Without disease ID
Functions
| Description | ||
|---|---|---|
| EC Number | 5.6.2.4 | Enzymes altering nucleic acid conformation |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| 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. |
| SCF ubiquitin ligase complex | A ubiquitin ligase complex in which a cullin from the Cul1 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a Skp1 adaptor and an F-box protein. SCF complexes are involved in targeting proteins for degradation by the proteasome. The best characterized complexes are those from yeast and mammals (with core subunits named Cdc53/Cul1, Rbx1/Hrt1/Roc1). |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3'-5' DNA helicase activity | Unwinding a DNA helix in the direction 5' to 3', driven by ATP hydrolysis. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| DNA helicase activity | Unwinding of a DNA helix, driven by ATP hydrolysis. |
| DNA translocase activity | Generation of movement along a single- or double-stranded DNA molecule, driven by ATP hydrolysis. |
| double-stranded DNA binding | Binding to double-stranded DNA. |
| single-stranded DNA binding | Binding to single-stranded DNA. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| cell death | Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). |
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| DNA catabolic process, endonucleolytic | The chemical reactions and pathways resulting in the breakdown of DNA, involving the hydrolysis of internal 3',5'-phosphodiester bonds in one or two strands of deoxyribonucleotides. |
| double-strand break repair via homologous recombination | The error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. A strand in the broken DNA searches for a homologous region in an intact chromosome to serve as the template for DNA synthesis. The restoration of two intact DNA molecules results in the exchange, reciprocal or nonreciprocal, of genetic material between the intact DNA molecule and the broken DNA molecule. |
| negative regulation of chromatin binding | Any process that stops or reduces the frequency, rate or extent of chromatin binding. Chromatin binding is the selective interaction with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| negative regulation of double-strand break repair via homologous recombination | Any process that stops, prevents, or reduces the frequency, rate or extent of double-strand break repair via homologous recombination. |
| positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage | Any process that activates or increases the frequency, rate or extent of intrinsic apoptotic signaling pathway in response to DNA damage. |
| positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| recombinational repair | A DNA repair process that involves the exchange, reciprocal or nonreciprocal, of genetic material between the broken DNA molecule and a homologous DNA region. |
| replication fork processing | The process in which a DNA replication fork that has stalled is restored to a functional state and replication is restarted. The stalling may be due to DNA damage, DNA secondary structure, bound proteins, dNTP shortage, or other causes. |
| replication fork protection | Any process that prevents the collapse of stalled replication forks. |
| response to intra-S DNA damage checkpoint signaling | A process that occurs in response to signals generated as a result of intra-S DNA damage checkpoint signaling. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRRFKRKHLT | AIDCQHLARS | HLAVTQPFGQ | RWTNRDPNHG | LYPKPRTKRG | SRGQGSQRCI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PEFFLAGKQP | CTNDMAKSNS | VGQDSCQDSE | GDMIFPAESS | CALPQEGSAG | PGSPGSAPPS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RKRSWSSEEE | SNQATGTSRW | DGVSKKAPRH | HLSVPCTRPR | EARQEAEDST | SRLSAESGET |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DQDAGDVGPD | PIPDSYYGLL | GTLPCQEALS | HICSLPSEVL | RHVFAFLPVE | DLYWNLSLVC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HLWREIISDP | LFIPWKKLYH | RYLMNEEQAV | SKVDGILSNC | GIEKESDLCV | LNLIRYTATT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KCSPSVDPER | VLWSLRDHPL | LPEAEACVRQ | HLPDLYAAAG | GVNIWALVAA | VVLLSSSVND |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IQRLLFCLRR | PSSTVTMPDV | TETLYCIAVL | LYAMREKGIN | ISNRIHYNIF | YCLYLQENSC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TQATKVKEEP | SVWPGKKTIQ | LTHEQQLILN | HKMEPLQVVK | IMAFAGTGKT | STLVKYAEKW |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SQSRFLYVTF | NKSIAKQAER | VFPSNVICKT | FHSMAYGHIG | RKYQSKKKLN | LFKLTPFMVN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SVLAEGKGGF | IRAKLVCKTL | ENFFASADEE | LTIDHVPIWC | KNSQGQRVMV | EQSEKLNGVL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EASRLWDNMR | KLGECTEEAH | QMTHDGYLKL | WQLSKPSLAS | FDAIFVDEAQ | DCTPAIMNIV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LSQPCGKIFV | GDPHQQIYTF | RGAVNALFTV | PHTHVFYLTQ | SFRFGVEIAY | VGATILDVCK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RVRKKTLVGG | NHQSGIRGDA | KGQVALLSRT | NANVFDEAVR | VTEGEFPSRI | HLIGGIKSFG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LDRIIDIWIL | LQPEEERRKQ | NLVIKDKFIR | RWVHKEGFSG | FKRYVTAAED | KELEAKIAVV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EKYNIRIPEL | VQRIEKCHIE | DLDFAEYILG | TVHKAKGLEF | DTVHVLDDFV | KVPCARHNLP |
| 910 | 920 | 930 | 940 | 950 | 960 |
| QLPHFRVESF | SEDEWNLLYV | AVTRAKKRLI | MTKSLENILT | LAGEYFLQAE | LTSNVLKTGV |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| VRCCVGQCNN | AIPVDTVLTM | KKLPITYSNR | KENKGGYLCH | SCAEQRIGPL | AFLTASPEQV |
| 1030 | 1040 | ||||
| RAMERTVENI | VLPRHEALLF | LVF |