Q6ZNB6
PR
Gene name |
NFXL1 (OZFP) |
Protein name |
NF-X1-type zinc finger protein NFXL1 |
Names |
Ovarian zinc finger protein, hOZFP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:152518 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q6ZNB6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6ZNB6-F1 | Predicted | AlphaFoldDB |
696 variants for Q6ZNB6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA356831975 rs1578048784 |
2 | E>D | No |
ClinGen Ensembl |
|
|
rs372266087 CA2910951 |
3 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529064297 CA96728279 |
4 | S>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs529064297 CA356831948 |
4 | S>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA356831940 rs1353208885 |
5 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1333028858 CA356831925 |
6 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA356831918 rs1396981187 |
6 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1333028858 CA356831927 |
6 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs778091277 CA2910950 |
7 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA356831909 rs1578048748 |
7 | Q>P | No |
ClinGen Ensembl |
|
|
rs1578048748 CA356831908 |
7 | Q>R | No |
ClinGen Ensembl |
|
|
CA356831891 rs1578048741 |
8 | V>G | No |
ClinGen Ensembl |
|
|
CA2910949 rs758950601 |
10 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1287476052 CA356831884 |
10 | G>S | No |
ClinGen gnomAD |
|
|
rs1413305077 CA356831877 |
11 | G>C | No |
ClinGen gnomAD |
|
|
rs1474238043 CA356831865 |
13 | G>D | No |
ClinGen gnomAD |
|
|
CA2910946 rs764826718 |
14 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs759276558 CA2910945 |
14 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs753366457 CA2910944 |
15 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1002335894 CA96728212 |
16 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA356831842 rs1210071825 |
16 | R>Q | No |
ClinGen gnomAD |
|
|
rs1002335894 CA356831844 |
16 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA356831830 rs1259435168 |
17 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2910942 rs760340622 |
18 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356831821 rs760340622 |
18 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868062240 CA96728202 |
19 | A>S | No |
ClinGen Ensembl |
|
|
CA96728185 rs921878096 |
19 | A>V | No |
ClinGen TOPMed |
|
|
rs773040895 CA2910941 |
20 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356831802 rs1334958241 |
20 | T>S | No |
ClinGen TOPMed |
|
|
rs989083520 CA96728151 |
22 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1560609173 CA356831763 |
23 | P>R | No |
ClinGen Ensembl |
|
|
rs1390053180 CA356831748 |
24 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA356831721 rs1293286104 |
27 | G>R | No |
ClinGen TOPMed |
|
|
CA356831712 rs1323069347 |
27 | G>V | No |
ClinGen gnomAD |
|
|
rs550201087 CA2910939 |
28 | V>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA96728129 rs572577030 |
29 | H>Y | No |
ClinGen Ensembl |
|
|
CA2910938 rs775608671 |
31 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 36 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356831605 rs1448594450 |
37 | R>* | No |
ClinGen gnomAD |
|
|
CA2910933 rs531616884 |
40 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531616884 CA2910932 |
40 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 42 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356831547 rs1467077659 |
42 | V>M | No |
ClinGen gnomAD |
|
|
CA2910931 rs564504046 |
45 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1025132486 COSM396084 CA96728076 |
46 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1161064723 CA356831483 |
47 | S>C | No |
ClinGen TOPMed |
|
|
CA356831471 rs1249213055 |
48 | G>V | No |
ClinGen gnomAD |
|
|
rs1578048546 CA356831444 |
50 | S>R | No |
ClinGen Ensembl |
|
|
CA356831435 rs776268419 |
51 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs776268419 CA96728075 |
51 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1366292664 CA356831439 |
51 | P>S | No |
ClinGen gnomAD |
|
|
rs1331005945 CA356831426 |
52 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1439413972 CA356831434 |
52 | G>R | No |
ClinGen gnomAD |
|
|
CA2910930 rs546117120 |
56 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1377500137 CA356831352 |
57 | T>P | No |
ClinGen TOPMed |
|
|
rs1168127017 CA356831343 |
58 | A>S | No |
ClinGen gnomAD |
|
|
rs1430643742 CA356831335 |
58 | A>V | No |
ClinGen gnomAD |
|
|
CA356831332 rs1190247482 |
59 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA356831328 rs1190247482 |
59 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1452553460 CA356831319 |
60 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs143812752 CA96728056 |
61 | G>W | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs1198986493 CA356831300 |
62 | S>R | No |
ClinGen gnomAD |
|
|
rs1247981887 CA356831286 |
63 | R>G | No |
ClinGen gnomAD |
|
|
CA96728036 rs897151141 |
64 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA356831265 rs897151141 |
64 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA96728029 rs892745742 |
65 | S>I | No |
ClinGen Ensembl |
|
|
CA96728020 rs1052432746 |
66 | P>A | No |
ClinGen gnomAD |
|
|
CA356831231 rs1344961972 |
66 | P>L | No |
ClinGen gnomAD |
|
|
rs1052432746 CA356831237 |
66 | P>S | No |
ClinGen gnomAD |
|
|
rs1578048418 CA356831228 |
67 | A>P | No |
ClinGen Ensembl |
|
|
rs753548723 CA2910927 |
67 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334129350 CA356831210 |
68 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA356831198 rs1307486508 |
69 | S>F | No |
ClinGen gnomAD |
|
|
rs936689690 CA96728009 |
70 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs542043125 CA356831152 |
71 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2910926 rs542043125 |
71 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768536607 CA96728001 |
71 | A>S | No |
ClinGen Ensembl |
|
|
rs1424394176 CA356831119 |
73 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 74 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1578048364 CA356831099 |
74 | T>P | No |
ClinGen Ensembl |
|
|
rs1578048364 CA356831090 |
74 | T>S | No |
ClinGen Ensembl |
|
|
CA356831074 rs1578048357 |
75 | T>P | No |
ClinGen Ensembl |
|
|
CA356831054 rs1478964180 |
76 | A>T | No |
ClinGen gnomAD |
|
|
CA96727947 rs1040194808 |
76 | A>V | No |
ClinGen Ensembl |
|
|
CA356831023 COSM1217255 rs1578048338 |
77 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs891239389 CA96727931 |
78 | S>I | No |
ClinGen TOPMed |
|
|
rs1331243695 CA356830304 |
80 | L>P | No |
ClinGen gnomAD |
|
|
rs773725048 CA2910914 |
80 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs748694794 CA2910912 |
81 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 82 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380128636 CA356830242 |
85 | K>Q | No |
ClinGen gnomAD |
|
|
CA2910910 rs779511582 |
86 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA356830219 rs1386386920 |
86 | F>L | No |
ClinGen gnomAD |
|
|
CA2910909 rs369759945 |
88 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2910908 rs368981622 |
89 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1457313455 CA356830187 |
89 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1162067306 CA356830176 |
90 | K>Q | No |
ClinGen gnomAD |
|
|
rs779608162 CA2910907 |
90 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755776183 CA2910906 |
91 | K>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 91 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs193085144 CA96725086 |
95 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs750038338 CA2910905 |
96 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs750038338 CA356830110 |
96 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs757009617 CA2910903 |
101 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2910901 rs763127394 |
103 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 103 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140165643 CA356830039 |
106 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1357450849 CA356830042 |
106 | S>R | No |
ClinGen TOPMed |
|
|
CA2910899 rs140165643 |
106 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766424271 CA2910897 |
111 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs773526801 CA2910895 |
112 | G>A | No |
ClinGen ExAC |
|
|
CA2910896 rs760811483 CA96725003 |
112 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356420437 CA356829996 |
113 | D>G | No |
ClinGen TOPMed |
|
|
rs544525646 CA96724977 |
113 | D>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA356829992 rs1296589257 |
114 | E>K | No |
ClinGen gnomAD |
|
|
CA356829983 rs1435788691 |
115 | D>H | No |
ClinGen gnomAD |
|
|
CA2910893 rs772585583 |
116 | F>L | No |
ClinGen ExAC |
|
|
rs1367234004 CA356829972 |
116 | F>S | No |
ClinGen gnomAD |
|
|
rs1578045418 CA356829964 |
117 | E>G | No |
ClinGen Ensembl |
|
|
rs376397642 CA2910892 |
118 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2910890 rs769107066 |
119 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 119 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2910889 rs749785185 |
120 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA356829948 rs749785185 |
120 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1427421925 CA356829946 |
120 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1427421925 CA356829947 |
120 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356829939 rs1390012181 |
121 | G>E | No |
ClinGen gnomAD |
|
|
CA96724952 rs369507098 |
122 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA356829923 rs1560607348 |
123 | I>M | No |
ClinGen Ensembl |
|
|
rs1169596325 CA356829920 |
124 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA356829897 COSM189993 rs1451919026 |
127 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA96724914 rs889509058 |
132 | T>A | No |
ClinGen Ensembl |
|
|
rs375270253 CA2910886 |
133 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201262276 CA2910885 |
134 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA96724888 rs866008035 |
134 | Q>K | No |
ClinGen Ensembl |
|
|
rs1422319215 CA356829289 |
136 | D>G | No |
ClinGen TOPMed |
|
|
rs1284691659 CA356829251 |
138 | D>G | No |
ClinGen gnomAD |
|
|
rs1475227107 CA356829239 |
139 | T>A | No |
ClinGen TOPMed |
|
|
CA2910866 rs144390999 |
140 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2910865 rs745434520 |
140 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412069905 CA356829169 |
143 | E>V | No |
ClinGen gnomAD |
|
|
rs149234166 CA356829157 |
144 | R>* | No |
ClinGen ESP TOPMed |
|
|
rs780652467 CA2910863 |
144 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1428898765 CA356829117 |
147 | Q>K | No |
ClinGen TOPMed |
|
|
rs371860513 CA2910861 |
149 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144169475 CA2910860 |
150 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778956237 CA356828945 |
157 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA2910857 rs778956237 |
157 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2910856 rs754932496 |
158 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA356828911 rs1224764962 |
159 | T>S | No |
ClinGen TOPMed |
|
|
CA96719896 rs896263638 |
162 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356828817 rs1264869320 |
163 | C>Y | No |
ClinGen gnomAD |
|
|
CA2910854 rs767687343 |
164 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA356828807 rs1485782930 |
164 | I>V | No |
ClinGen TOPMed |
|
|
rs762135215 CA2910853 |
165 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2910852 rs751769737 |
166 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2910850 rs763330922 |
167 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA356828667 rs1396927973 |
170 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2910849 rs775697701 |
170 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1472428747 CA356828644 |
171 | Q>K | No |
ClinGen TOPMed |
|
|
CA356828595 rs1381986317 |
172 | A>G | No |
ClinGen gnomAD |
|
|
CA2910829 rs760050461 |
175 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs112030178 CA2910828 |
177 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760226313 CA2910826 |
178 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248517848 CA356827708 |
180 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs368268664 CA2910825 |
180 | F>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771821929 CA2910824 |
181 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356827692 rs375175288 |
182 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2910823 rs375175288 |
182 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 184 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2910821 rs199623201 |
185 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1362481099 CA356827650 |
185 | M>L | No |
ClinGen TOPMed |
|
|
rs1362481099 CA356827651 |
185 | M>V | No |
ClinGen TOPMed |
|
|
rs1361128228 CA356827631 |
186 | P>L | No |
ClinGen gnomAD |
|
|
CA356827636 rs1270166683 |
186 | P>S | No |
ClinGen TOPMed |
|
|
CA356827566 rs1380498277 |
191 | W>C | No |
ClinGen TOPMed |
|
|
CA2910820 rs749273589 |
192 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA356827551 rs1578039614 |
193 | K>E | No |
ClinGen Ensembl |
|
|
rs1357298857 CA356827496 |
197 | F>C | No |
ClinGen gnomAD |
|
|
CA356827486 rs1311021660 |
198 | L>V | No |
ClinGen TOPMed |
|
|
CA2910818 rs143553691 |
199 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143553691 CA356827478 |
199 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2910817 rs747156559 |
200 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1231161846 CA356827461 |
201 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1330663682 CA356827452 |
202 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1330663682 CA356827450 |
202 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA356827419 rs1368913826 |
205 | D>N | No |
ClinGen gnomAD |
|
|
CA96717948 rs912423764 |
209 | K>E | No |
ClinGen TOPMed |
|
|
rs758706819 CA2910815 |
210 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA96717947 rs755572040 |
211 | D>N | No |
ClinGen Ensembl |
|
|
rs138029067 CA96717945 |
214 | W>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2910799 rs750002785 |
219 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96715020 rs919449118 |
219 | C>Y | No |
ClinGen Ensembl |
|
|
rs1412730081 CA356826903 |
220 | R>T | No |
ClinGen gnomAD |
|
|
rs775397375 CA2910798 |
221 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2910796 rs745781820 |
222 | E>D | No |
ClinGen ExAC |
|
|
rs769922568 CA2910797 |
222 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2910795 rs777924050 |
225 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777924050 CA356826845 |
225 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748435451 CA2910794 |
225 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2910793 rs748435451 |
225 | R>Q | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs972295613 CA96714962 |
227 | E>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 227 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356826803 rs1181093548 |
228 | T>I | No |
ClinGen gnomAD |
|
|
rs1185828741 CA356826784 |
230 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1235009301 CA356826792 |
230 | S>R | No |
ClinGen gnomAD |
|
|
CA356826779 rs1442381191 |
230 | S>R | No |
ClinGen gnomAD |
|
|
rs1279886260 CA356826770 |
231 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA96714961 rs963658386 |
232 | Y>C | No |
ClinGen Ensembl |
|
|
rs1287433199 CA356826744 |
233 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 234 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2910792 rs779155747 |
235 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356826687 rs1327247718 |
238 | K>E | No |
ClinGen gnomAD |
|
|
CA356826653 rs1276744013 |
240 | E>D | No |
ClinGen TOPMed |
|
|
CA356826641 rs1452549594 |
241 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_030869 CA2910791 rs12651301 |
246 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs754265929 CA2910790 |
247 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766713664 CA356826560 CA2910789 |
249 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1339814933 CA356826545 |
250 | P>L | No |
ClinGen gnomAD |
|
|
CA2910788 rs756655995 |
250 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1337230793 CA356826527 |
252 | S>A | No |
ClinGen gnomAD |
|
|
rs139473913 COSM3767894 CA2910787 COSM3767893 |
259 | R>C | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs139473913 CA2910786 |
259 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761183882 CA2910785 |
259 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247618400 CA356826399 |
263 | P>T | No |
ClinGen TOPMed |
|
|
CA2910784 rs751096786 |
264 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs762692778 CA2910782 |
271 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs759522334 CA2910779 |
275 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs980773662 CA96711055 |
279 | P>R | No |
ClinGen Ensembl |
|
|
CA356825202 rs1390110099 |
279 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1256707601 CA356825168 |
281 | C>F | No |
ClinGen TOPMed |
|
|
CA2910745 rs765112188 |
282 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1161030803 CA356825151 |
283 | K>E | No |
ClinGen TOPMed |
|
|
CA2910743 CA2910742 rs559438658 |
283 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356825135 rs1190650923 |
284 | M>T | No |
ClinGen gnomAD |
|
|
CA2910741 rs760590572 |
285 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2910739 rs768654225 |
286 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA356825111 rs1481989277 |
286 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2910738 rs749538580 |
287 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2910737 rs780197259 |
288 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770039511 CA2910736 |
288 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298602188 CA356825083 |
289 | C>S | No |
ClinGen gnomAD |
|
|
rs1218082956 CA356825067 |
290 | Y>C | No |
ClinGen gnomAD |
|
|
CA356825019 rs1407606030 |
294 | A>T | No |
ClinGen gnomAD |
|
|
rs757765121 CA2910733 |
295 | K>T | No |
ClinGen ExAC |
|
|
rs747462215 CA2910732 |
296 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370391525 CA356824995 |
296 | P>S | No |
ClinGen gnomAD |
|
|
rs1464012626 CA356824986 |
297 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763893854 CA96710948 |
298 | P>R | No |
ClinGen Ensembl |
|
|
rs573705397 CA2910731 |
299 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2910729 rs752421437 |
299 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752421437 CA356824963 |
299 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573705397 CA2910730 |
299 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754654125 CA2910727 |
301 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs555383771 CA2910726 |
303 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356824894 rs543734266 |
304 | K>N | No |
ClinGen TOPMed |
|
|
CA356824898 rs1198156844 |
304 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 305 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs887140560 CA96710842 |
306 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1481589901 CA356824778 |
309 | Q>H | No |
ClinGen gnomAD |
|
|
rs543405992 CA2910724 |
309 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2910725 rs543405992 |
309 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356824772 rs1184112943 |
310 | L>V | No |
ClinGen TOPMed |
|
|
rs998651895 CA96710803 |
312 | C>Y | No |
ClinGen Ensembl |
|
|
COSM1429893 CA2910722 rs764178262 |
313 | G>E | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 314 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 315 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 317 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356824606 rs1264441120 |
319 | G>R | No |
ClinGen gnomAD |
|
|
CA356824603 rs1264441120 |
319 | G>W | No |
ClinGen gnomAD |
|
|
rs901650799 CA96710783 |
320 | Q>P | No |
ClinGen TOPMed |
|
|
CA2910718 rs746094601 |
321 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2910719 rs746094601 |
321 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776876433 CA2910717 |
322 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA96710735 rs1038903907 |
325 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs576428646 CA2910715 |
326 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1021978582 CA96710728 |
326 | P>S | No |
ClinGen Ensembl |
|
|
CA96710720 rs1007497839 |
328 | H>Y | No |
ClinGen Ensembl |
|
|
CA96710711 rs1051460209 |
329 | A>E | No |
ClinGen Ensembl |
|
|
CA2910714 rs558039771 |
329 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1432128095 CA356824400 |
330 | G>R | No |
ClinGen TOPMed |
|
|
rs767486278 CA2910705 |
331 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 334 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2910704 rs370949417 |
334 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376395477 CA2910703 |
335 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2910702 rs765306402 |
336 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1218602894 CA356824240 |
336 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2910701 rs759682443 |
337 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2910700 rs776873348 |
338 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs371168866 CA2910699 |
342 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1044069929 CA96710579 |
343 | C>F | No |
ClinGen TOPMed |
|
| TCGA novel | 345 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193123948 CA356824071 |
346 | G>S | No |
ClinGen TOPMed |
|
|
rs1451389042 CA356824007 |
349 | V>I | No |
ClinGen TOPMed |
|
|
rs373216812 CA2910696 |
350 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 351 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291547522 CA356823954 |
352 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2910693 rs572140097 |
355 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748631687 CA2910694 |
355 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2910692 rs768168520 |
356 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA356823860 rs1227341132 |
357 | P>L | No |
ClinGen gnomAD |
|
|
COSM1738968 rs1339437229 CA356823867 |
357 | P>S | NS [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1212242215 CA356823829 |
359 | W>* | No |
ClinGen gnomAD |
|
|
rs1212242215 CA356823824 |
359 | W>C | No |
ClinGen gnomAD |
|
|
CA356823831 rs1320338922 |
359 | W>L | No |
ClinGen gnomAD |
|
|
rs573454042 CA2910690 |
363 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs755728390 CA2910689 |
363 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2910672 rs200499825 |
370 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1198808107 CA356823595 |
372 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs769496566 CA2910671 |
373 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs745469797 CA2910670 |
376 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA2910669 rs780973597 |
377 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 378 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277578222 CA356823511 |
379 | V>F | No |
ClinGen gnomAD |
|
|
rs376689547 CA356823490 |
380 | C>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356823475 rs1264088614 |
381 | H>Q | No |
ClinGen gnomAD |
|
|
rs1330890070 CA356823480 |
381 | H>R | No |
ClinGen gnomAD |
|
|
CA2910667 rs751474556 |
382 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356823460 rs1404778355 |
383 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs865775005 CA96709832 |
390 | R>* | No |
ClinGen TOPMed |
|
|
rs865775005 CA96709833 |
390 | R>G | No |
ClinGen TOPMed |
|
|
CA96709800 rs372423597 |
390 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2910665 rs372423597 |
390 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1469746042 CA356823363 |
391 | S>F | No |
ClinGen TOPMed |
|
|
CA2910664 rs754006482 |
392 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1158370358 CA356823343 |
393 | K>R | No |
ClinGen gnomAD |
|
|
rs1234958730 CA356823296 |
397 | P>S | No |
ClinGen gnomAD |
|
|
CA356823281 rs1186123052 |
398 | C>Y | No |
ClinGen gnomAD |
|
|
CA356823268 rs1173214839 |
399 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 401 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286118122 COSM1633702 CA356822815 |
402 | K>R | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1396041369 CA356822791 |
404 | S>F | No |
ClinGen TOPMed |
|
|
CA356822783 rs1219921624 |
405 | L>S | No |
ClinGen gnomAD |
|
|
CA96708421 rs184496927 |
410 | D>N | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 414 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2910641 rs780311966 |
416 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2910640 rs756213560 |
417 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs750503881 CA2910639 |
417 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA356822615 rs1269056686 |
418 | C>R | No |
ClinGen gnomAD |
|
|
CA2910638 rs767818427 |
419 | D>E | No |
ClinGen ExAC |
|
|
CA2910637 rs757413018 |
420 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs752021955 CA2910636 |
421 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 423 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356822582 rs1424346366 |
423 | E>Q | No |
ClinGen gnomAD |
|
|
CA2910633 rs778334116 |
425 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356822555 rs1578033748 |
426 | I>M | No |
ClinGen Ensembl |
|
|
rs1427233431 CA356822560 |
426 | I>V | No |
ClinGen gnomAD |
|
|
rs1418941236 TCGA novel CA356822544 |
428 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1418941236 CA356822542 |
428 | R>K | No |
ClinGen gnomAD |
|
|
rs764749914 CA2910632 |
430 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339543014 CA356822527 |
430 | S>L | No |
ClinGen TOPMed |
|
|
CA2910630 rs35139099 |
432 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2910629 rs770685540 |
432 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361402732 CA356822497 COSM1217254 |
435 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs746582969 CA2910628 |
435 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA356822483 rs1320066172 |
437 | P>L | No |
ClinGen TOPMed |
|
|
rs753747873 CA96708335 |
440 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2910626 rs771723668 |
441 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356822460 rs771723668 |
441 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2910625 rs748118226 |
441 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1214585616 CA356822453 |
442 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2910605 rs149138345 |
445 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA96706494 rs918280930 |
445 | V>M | No |
ClinGen Ensembl |
|
|
rs749181917 CA2910604 |
448 | H>R | No |
ClinGen ExAC |
|
|
CA2910603 rs764307379 |
449 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA356822384 rs1258559340 |
450 | R>C | No |
ClinGen TOPMed |
|
|
rs761223435 CA2910602 |
450 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761223435 CA356822383 |
450 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356822355 rs1244395270 |
454 | H>R | No |
ClinGen TOPMed |
|
|
rs1055938903 CA96706464 |
456 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs183184004 CA96706455 |
457 | R>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA356822336 rs1457122371 |
457 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1457122371 CA356822337 |
457 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs962436409 CA96706453 |
458 | M>T | No |
ClinGen gnomAD |
|
|
rs138166995 CA2910601 |
459 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1344794341 CA356822258 |
468 | T>S | No |
ClinGen TOPMed |
|
|
CA795505618 rs1466705854 |
469 | K>L | No |
ClinGen TOPMed |
|
|
rs753128331 CA2910598 |
472 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1243002470 CA356822216 |
474 | R>C | No |
ClinGen gnomAD |
|
|
CA2910597 rs779237854 |
474 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA356822185 rs1453392615 |
478 | K>R | No |
ClinGen gnomAD |
|
|
rs1304681657 CA356822177 |
479 | H>R | No |
ClinGen TOPMed |
|
|
CA96706412 rs754768791 |
482 | R>* | No |
ClinGen TOPMed |
|
|
CA356822157 rs754768791 |
482 | R>G | No |
ClinGen TOPMed |
|
|
rs1056543156 CA96703769 |
486 | C>Y | No |
ClinGen Ensembl |
|
|
CA2910582 rs769753350 |
488 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186933691 CA356821919 |
489 | N>I | No |
ClinGen TOPMed |
|
|
rs1445147537 CA356821903 |
491 | P>L | No |
ClinGen gnomAD |
|
|
rs1369740102 CA356821900 |
492 | P>S | No |
ClinGen gnomAD |
|
|
rs1427581215 CA356821894 |
493 | C>G | No |
ClinGen gnomAD |
|
|
rs747098135 CA2910581 |
495 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs371099653 CA2910580 |
499 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2910579 rs371099653 |
499 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs935455700 CA96703759 |
499 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA96703740 rs902978724 |
501 | L>S | No |
ClinGen Ensembl |
|
|
CA356821842 rs1401718407 |
501 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1359029574 CA356821834 |
502 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA356821835 rs1223935886 |
502 | G>R | No |
ClinGen gnomAD |
|
|
rs748313556 CA2910578 |
505 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327250623 CA356821806 |
506 | H>R | No |
ClinGen gnomAD |
|
|
rs942804972 CA96703706 |
507 | K>M | No |
ClinGen TOPMed |
|
|
rs1343465043 CA356821772 |
511 | V>F | No |
ClinGen gnomAD |
|
|
CA356821749 rs1405915181 |
514 | R>K | No |
ClinGen gnomAD |
|
|
rs145684190 CA2910549 |
515 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs145684190 CA96699702 |
515 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA96699695 rs1006809516 |
518 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs572568534 CA2910548 |
521 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756781907 CA2910546 |
523 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1001377931 CA96699634 |
524 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1438871352 CA356821132 |
525 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2910543 rs758065895 |
526 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2910542 rs752493580 |
527 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356821105 rs752493580 |
527 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2910541 rs765026256 |
529 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs776500855 CA2910539 |
532 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs774410666 CA2910536 |
535 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774410666 CA2910537 |
535 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2910535 rs146822487 |
536 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2910534 rs749465455 |
538 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1449743607 CA356820841 |
541 | R>Q | No |
ClinGen gnomAD |
|
|
CA2910533 rs775719936 |
542 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA2910532 rs143751009 |
543 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs531865506 CA96699560 |
543 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA96699543 rs929703989 |
544 | T>I | No |
ClinGen TOPMed |
|
|
CA356820774 rs929703989 |
544 | T>S | No |
ClinGen TOPMed |
|
|
rs376376269 CA2910531 |
546 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1390489262 CA356820725 |
547 | P>T | No |
ClinGen gnomAD |
|
|
rs781777725 CA2910530 |
548 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA2910529 rs757811588 |
549 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1382641164 CA356820661 |
550 | C>F | No |
ClinGen gnomAD |
|
|
CA2910528 rs746585165 |
551 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs371865138 CA2910526 |
553 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2910525 rs752328730 |
554 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA2910524 rs200870112 |
555 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA |
|
CA2910511 rs771628302 |
556 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1488526044 CA356820476 |
556 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 557 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA96699253 rs141047556 |
559 | T>I | No |
ClinGen ESP TOPMed |
|
|
rs777156286 CA2910508 |
562 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs151113647 CA2910507 |
563 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1198472471 CA356820400 |
564 | S>G | No |
ClinGen TOPMed |
|
|
rs567736347 CA2910506 |
565 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2910505 rs778664026 |
569 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2910504 rs76453132 |
569 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356820304 rs1400216151 |
570 | C>S | No |
ClinGen gnomAD |
|
|
CA356820255 rs1342832001 |
572 | F>I | No |
ClinGen gnomAD |
|
|
CA2910502 rs148605910 |
575 | C>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1167005588 CA356820145 |
577 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1354100558 CA356820115 |
578 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 579 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356820057 rs1418872144 |
580 | Q>* | No |
ClinGen gnomAD |
|
|
CA2910501 rs756049433 |
580 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs968244689 CA96699182 |
582 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 586 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458528256 CA356819968 |
587 | E>K | No |
ClinGen TOPMed |
|
|
rs1247146180 CA356819844 |
594 | P>S | No |
ClinGen gnomAD |
|
|
rs1578021091 CA356819832 |
595 | A>P | No |
ClinGen Ensembl |
|
|
CA96699133 rs1007189493 |
595 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765562075 CA2910496 |
596 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868828838 CA96699123 |
596 | P>S | No |
ClinGen Ensembl |
|
|
CA356819780 rs1279338795 |
598 | H>R | No |
ClinGen TOPMed |
|
|
rs147131338 COSM1055743 CA2910494 |
601 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA356819699 rs1293009372 |
603 | I>R | No |
ClinGen TOPMed |
|
|
CA356819673 rs1353812245 |
605 | Q>P | No |
ClinGen gnomAD |
|
|
CA356819651 rs1306543877 |
606 | T>I | No |
ClinGen TOPMed |
|
|
rs1223209201 CA356819636 |
608 | R>G | No |
ClinGen gnomAD |
|
|
rs1578019770 CA356819356 |
609 | H>P | No |
ClinGen Ensembl |
|
|
CA2910465 rs757235787 |
609 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356819310 rs779169051 |
611 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs779169051 CA2910462 |
611 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs377679572 CA2910461 |
612 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1261071342 CA356819284 |
613 | G>D | No |
ClinGen TOPMed |
|
|
rs1287450870 CA356819275 |
614 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356819235 rs1486700887 |
616 | E>K | No |
ClinGen TOPMed |
|
|
CA2910460 rs753935224 |
617 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2910458 rs375257033 |
621 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2910457 rs147381315 |
624 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767706687 CA2910456 |
625 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 625 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356819106 rs1304373449 |
626 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1264664203 CA356819101 |
626 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA356819100 rs774670828 |
627 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774670828 CA2910455 |
627 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774670828 CA2910454 |
627 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347352067 CA356819097 |
627 | A>V | No |
ClinGen TOPMed |
|
|
rs1359648096 CA356819084 |
629 | P>L | No |
ClinGen gnomAD |
|
|
CA96697875 rs866510504 |
630 | C>F | No |
ClinGen Ensembl |
|
|
CA2910453 rs764560351 |
630 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA2910452 rs762491775 |
633 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 635 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186161341 CA356819043 |
636 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA551318448 rs1257758192 |
637 | I>KRYL* | No |
ClinGen gnomAD |
|
| TCGA novel | 637 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356819038 rs1424046598 |
637 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs889089186 CA356819028 |
638 | P>H | No |
ClinGen gnomAD |
|
|
rs889089186 CA96697874 |
638 | P>L | No |
ClinGen gnomAD |
|
|
rs1184404527 CA356819029 |
638 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356819031 rs1184404527 |
638 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA356818747 rs1421244416 |
639 | M>I | No |
ClinGen gnomAD |
|
|
CA2910421 rs752216669 |
640 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA2910420 rs764664580 |
640 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs759267067 CA2910419 |
643 | G>R | No |
ClinGen ExAC TOPMed |
|
|
CA2910418 rs776102058 |
645 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
CA356818709 rs1447249369 |
645 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 646 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs941339440 CA96693585 |
646 | E>V | No |
ClinGen gnomAD |
|
|
rs1240080110 CA356818548 |
648 | S>G | No |
ClinGen gnomAD |
|
|
rs1454523089 CA356818542 |
649 | P>T | No |
ClinGen TOPMed |
|
|
CA356818530 rs1442022645 |
651 | P>A | No |
ClinGen gnomAD |
|
|
rs1442022645 CA356818529 |
651 | P>S | No |
ClinGen gnomAD |
|
|
CA356818523 rs1200764276 |
652 | C>G | No |
ClinGen gnomAD |
|
|
CA2910399 rs766001963 |
654 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1193208618 CA356818509 |
654 | A>T | No |
ClinGen TOPMed |
|
|
CA2910397 rs773141880 |
656 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA96693153 rs935175086 |
658 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA356818469 rs1244075803 |
660 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1244075803 CA356818470 |
660 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs771949328 CA2910396 |
661 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA356818448 rs1341163107 |
663 | V>A | No |
ClinGen gnomAD |
|
|
CA2910394 rs761863265 |
670 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs867996143 CA96693101 |
671 | Q>* | No |
ClinGen Ensembl |
|
|
rs138616900 CA2910392 |
672 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2910389 rs771073589 |
676 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2910390 rs150584015 |
676 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778145709 CA2910387 |
681 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2910386 rs549392283 |
683 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372670340 CA2910385 |
684 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA96693017 rs372670340 |
684 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA96693004 rs967917320 |
686 | D>N | No |
ClinGen Ensembl |
|
|
CA356818279 rs1443972402 |
687 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs148063892 CA2910384 |
690 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356818246 rs755494951 CA2910383 |
692 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA96693002 rs201819990 |
692 | N>S | No |
ClinGen gnomAD |
|
|
CA356818103 rs1356093749 |
695 | G>D | No |
ClinGen gnomAD |
|
|
rs749758783 CA2910364 |
696 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 696 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374566195 CA356818097 |
696 | P>S | No |
ClinGen gnomAD |
|
|
rs1425706976 CA356818083 |
697 | E>K | No |
ClinGen gnomAD |
|
|
CA2910363 rs779449336 |
699 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA356817992 rs1437345279 |
703 | E>K | No |
ClinGen gnomAD |
|
|
CA2910362 rs755733759 |
705 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1308449466 CA356817940 |
706 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2910360 rs767343701 |
708 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA356817906 rs756955581 |
709 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs751327206 CA2910358 |
709 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1429888 CA2910359 rs756955581 |
709 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 710 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356817806 rs763883962 |
716 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763883962 CA2910357 |
716 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140154347 CA96690264 COSM110083 |
716 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1376305079 CA356817793 |
717 | C>* | No |
ClinGen gnomAD |
|
| TCGA novel | 718 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2910356 rs761535905 |
720 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356817775 rs1449309814 |
720 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1321130605 CA356817770 |
721 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2910354 rs375179450 |
723 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1384796727 CA356817737 |
726 | C>R | No |
ClinGen TOPMed |
|
|
CA2910353 rs760786566 |
728 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356817701 rs1175497127 |
731 | Q>R | No |
ClinGen gnomAD |
|
|
CA356817687 rs773278526 |
732 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356817689 rs1164922969 |
732 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2910352 rs773278526 |
732 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164922969 CA356817693 |
732 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2910351 rs772291368 |
734 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1311442914 CA356817667 |
735 | I>V | No |
ClinGen TOPMed |
|
|
rs561940848 CA2910350 |
736 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356817626 rs1253724136 |
740 | K>T | No |
ClinGen gnomAD |
|
|
rs774605626 CA2910349 COSM673930 |
741 | I>M | Variant assessed as Somatic; 4.63e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2910348 rs769012568 |
742 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1260013554 CA356817600 |
744 | L>P | No |
ClinGen gnomAD |
|
|
rs1241170090 CA356817593 |
745 | Y>S | No |
ClinGen TOPMed |
|
|
CA356817590 rs1215125989 |
746 | V>M | No |
ClinGen gnomAD |
|
|
rs1261634091 CA356822117 |
750 | K>N | No |
ClinGen TOPMed |
|
|
rs1198655726 CA356822109 |
751 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2910331 rs370816326 |
753 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1387990085 CA356822086 |
755 | D>V | No |
ClinGen gnomAD |
|
|
rs1396136129 CA356822081 |
756 | V>A | No |
ClinGen gnomAD |
|
|
rs915346704 CA96726802 |
756 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 758 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761958983 CA2910329 |
760 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356822054 rs761958983 |
760 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96726789 rs768728985 |
760 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774680450 CA356822052 |
760 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2910328 rs774680450 |
760 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2910326 rs143492439 |
762 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775982216 CA2910325 |
763 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356822035 rs1266774762 |
763 | S>T | No |
ClinGen gnomAD |
|
|
CA2910324 rs770436726 |
764 | C>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 765 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA96726771 rs868068609 |
767 | N>D | No |
ClinGen Ensembl |
|
|
CA356822005 rs1560583392 |
767 | N>S | No |
ClinGen Ensembl |
|
|
rs1469871437 CA356821995 |
768 | Q>H | No |
ClinGen gnomAD |
|
|
CA356821978 rs1198225026 |
771 | K>E | No |
ClinGen gnomAD |
|
|
CA356821970 rs1317110729 |
772 | E>Q | No |
ClinGen gnomAD |
|
|
rs201052770 CA2910313 |
773 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2910312 rs753724802 |
774 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766279586 CA2910311 |
779 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2910310 rs761991196 |
781 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234908646 CA356821646 |
784 | H>Q | No |
ClinGen gnomAD |
|
|
rs751585404 COSM3940889 CA2910309 |
784 | H>Y | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA356821638 rs1359376299 |
786 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1158763493 CA356821616 |
789 | P>T | No |
ClinGen gnomAD |
|
|
rs1402925191 CA356821592 |
792 | C>G | No |
ClinGen gnomAD |
|
|
CA96721251 rs201213581 |
793 | N>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs201213581 CA96721253 |
793 | N>T | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 794 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764434625 CA2910308 |
794 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356821564 rs1330467052 |
796 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs763026481 CA2910307 COSM276333 |
797 | K>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2910306 rs776002645 |
800 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA2910305 rs765657889 |
802 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867730155 CA96721185 |
804 | R>K | No |
ClinGen Ensembl |
|
|
CA2910288 rs758678381 |
808 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145622298 CA2910287 |
810 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356820858 rs1261009861 |
811 | C>S | No |
ClinGen gnomAD |
|
|
CA2910286 rs765536223 |
813 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447115688 CA356820803 |
813 | K>N | No |
ClinGen gnomAD |
|
|
CA2910285 rs760020834 |
814 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2910284 rs775957092 |
815 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs918388133 CA96718762 COSM78170 |
815 | R>H | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1217118300 CA356820750 |
817 | N>H | No |
ClinGen TOPMed |
|
|
CA2910283 rs766970189 |
818 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs761032965 CA2910282 |
819 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356820656 rs1347071442 |
821 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1432075985 CA356820670 |
821 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 822 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA96718718 rs576644989 |
822 | E>G | No |
ClinGen 1000Genomes |
|
|
rs747632844 CA2910279 |
823 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA2910278 rs774030435 |
826 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1167350775 CA356820557 |
826 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1181353728 CA356820530 |
828 | K>Q | No |
ClinGen TOPMed |
|
|
rs779656168 CA2910275 |
829 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 829 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs974353230 CA96718669 |
831 | K>Q | No |
ClinGen Ensembl |
|
|
CA2910273 rs140512787 |
832 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2910274 rs377222212 |
832 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356820448 rs1560577871 |
836 | E>A | No |
ClinGen Ensembl |
|
|
rs1415351878 CA356820365 |
837 | I>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 838 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2910252 rs540790538 |
839 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745653924 CA2910251 |
840 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs755073946 CA96717979 |
841 | E>Q | No |
ClinGen Ensembl |
|
|
rs1219122348 CA356820237 |
844 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1348722901 CA356820167 |
848 | E>K | No |
ClinGen gnomAD |
|
|
CA2910248 rs770988855 |
851 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96717926 rs200228626 |
852 | R>G | No |
ClinGen 1000Genomes |
|
| TCGA novel | 852 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA96717910 rs200005044 |
853 | Q>R | No |
ClinGen 1000Genomes |
|
|
CA96717906 rs201076274 |
854 | Q>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 855 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1228109502 CA356819589 |
857 | L>V | No |
ClinGen TOPMed |
|
|
rs769458344 CA2910234 |
861 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2910233 rs759318211 |
863 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA2910232 rs776476761 |
864 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA2910231 rs544458900 |
865 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA96715866 rs1031810464 |
867 | R>C | No |
ClinGen TOPMed |
|
|
rs138843661 CA2910230 |
867 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA96715792 rs768903127 |
868 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs768903127 CA2910228 |
868 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs373186384 CA2910229 |
868 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356819510 rs1159417111 |
870 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA356819500 rs1420449629 |
871 | N>T | No |
ClinGen gnomAD |
|
|
CA2910225 rs780205852 |
873 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 874 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260301707 CA356819468 |
875 | D>E | No |
ClinGen gnomAD |
|
|
rs201648191 CA2910224 |
875 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750764967 CA2910223 |
878 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA356819448 rs1425566771 |
879 | V>F | No |
ClinGen TOPMed |
|
|
CA2910222 rs79527689 |
879 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2910221 rs757792553 |
881 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA356819434 rs1560576163 |
881 | L>P | No |
ClinGen Ensembl |
|
|
CA2910220 rs752012675 |
882 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs565045894 CA2910218 |
885 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs565045894 CA2910219 |
885 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1022472645 CA96715746 |
886 | K>E | No |
ClinGen Ensembl |
|
|
rs1295094218 CA356819394 |
887 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA356819371 rs1264742893 |
890 | Y>N | No |
ClinGen gnomAD |
|
|
rs752248993 CA2910217 |
891 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2910216 rs764857744 |
896 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1409836153 CA356819286 |
898 | V>A | No |
ClinGen TOPMed |
|
|
CA356819213 rs1455026064 |
905 | Y>H | No |
ClinGen gnomAD |
|
|
CA2910213 rs766240007 |
906 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2910211 rs61730179 |
907 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1192167994 CA356819183 |
907 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1192167994 CA356819185 |
907 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1428393026 CA356819175 |
908 | H>R | No |
ClinGen gnomAD |
|
|
rs889751461 CA96715682 |
909 | D>N | No |
ClinGen Ensembl |
|
|
rs1560576064 CA356819161 |
909 | D>V | No |
ClinGen Ensembl |
|
|
CA96715674 rs1049753161 |
910 | V>A | No |
ClinGen Ensembl |
|
|
rs866744951 CA96715677 |
910 | V>F | No |
ClinGen Ensembl |
|
|
rs1487546251 CA356819145 |
911 | N>D | No |
ClinGen gnomAD |
|
|
rs775580487 CA2910207 |
911 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214516529 CA551650309 |
911 | N>K | No |
ClinGen gnomAD |
|
|
rs775580487 CA356819140 |
911 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335267106 CA356819126 |
912 | N>Y | No |
ClinGen gnomAD |
No associated diseases with Q6ZNB6
13 regional properties for Q6ZNB6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, NF-X1-type | 265 - 283 | IPR000967-1 |
| domain | Zinc finger, NF-X1-type | 318 - 337 | IPR000967-2 |
| domain | Zinc finger, NF-X1-type | 371 - 390 | IPR000967-3 |
| domain | Zinc finger, NF-X1-type | 424 - 443 | IPR000967-4 |
| domain | Zinc finger, NF-X1-type | 451 - 472 | IPR000967-5 |
| domain | Zinc finger, NF-X1-type | 476 - 495 | IPR000967-6 |
| domain | Zinc finger, NF-X1-type | 497 - 522 | IPR000967-7 |
| domain | Zinc finger, NF-X1-type | 560 - 580 | IPR000967-8 |
| domain | Zinc finger, NF-X1-type | 589 - 635 | IPR000967-9 |
| domain | Zinc finger, NF-X1-type | 664 - 681 | IPR000967-10 |
| domain | Zinc finger, NF-X1-type | 713 - 731 | IPR000967-11 |
| domain | Zinc finger, NF-X1-type | 775 - 794 | IPR000967-12 |
| domain | Zinc finger, RING-type | 160 - 220 | IPR001841 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. |
| zinc ion binding | Binding to a zinc ion (Zn). |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEASWRQVAG | GRGRSRGRAT | AAPSGNGVHL | RGAGGGREKG | SVGAVPSGTS | PGGVATTAAA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GSRHSPAGSQ | ALQTTAASEL | MSQKKFEEIK | KANQAAARKL | VEEQFSSSSE | EGDEDFEGKQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GKILANTFIT | YTTQTDGDTR | ELERTKQYVN | EAFQAGAMTC | LICIASVKRN | QAVWSCSGCF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CIFHMPCIQK | WAKDSQFLVS | SVTDDDFGKK | DCPWPCPKCR | FEYKRSETPS | RYYCYCGKVE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DPPLDPWLVP | HSCGQVCERE | FKPPCGHKCL | LLCHPGPCPP | CPKMVTTTCY | CKKAKPIPRR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CSAKEWSCQL | PCGQKLLCGQ | HKCENPCHAG | SCQPCPRVSR | QKCVCGKKVA | ERSCASPLWH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CDQVCGKTLP | CGNHTCEQVC | HVGACGECPR | SGKRFCPCQK | SKFSLPCTED | VPTCGDSCDK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VLECGIHRCS | QRCHRGPCET | CRQEVEKHCR | CGKHTKRMPC | HKPYLCETKC | VKMRDCQKHQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CRRKCCPGNC | PPCDQNCGRT | LGCRNHKCPS | VCHRGSCYPC | PETVDVKCNC | GNTKVTVPCG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RERTTRPPKC | KEQCSRPPTC | HHTSQEKHRC | HFGSCPPCHQ | PCQKVLEKCG | HLCPAPCHDQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ALIKQTGRHQ | PTGPWEQPSE | PAFIQTALPC | PPCQVPIPME | CLGKHEVSPL | PCHAVGPYSC |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KRVCGRILDC | QNHTCMKECH | KVTKTDGCTG | KNKAGPECLH | CEEGCSKSRP | LGCLHPCILR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| CHPGECPPCV | QMLRIKCHCK | ITSLYVECRK | ITTADVNEKN | LLSCCKNQCP | KELPCGHRCK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EMCHPGECPF | NCNQKVKLRC | PCKRIKKELQ | CNKVRENQVS | IECDTTCKEM | KRKASEIKEA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EAKAALEEEK | RRQQAELEAF | ENRLKGRRKK | NRKRDEVAVE | LSLWQKHKYY | LISVCGVVVV |
| 910 | |||||
| VFAWYITHDV | N |