Q14166
PR
Gene name |
TTLL12 (KIAA0153) |
Protein name |
Tubulin--tyrosine ligase-like protein 12 |
Names |
Inactive tubulin--tyrosine ligase-like protein 12 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23170 |
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 Q14166
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q14166-F1 | Predicted | AlphaFoldDB |
720 variants for Q14166
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA411828061 rs904821112 |
3 | A>D | No |
ClinGen TOPMed |
|
|
CA411828069 rs1229790111 |
3 | A>T | No |
ClinGen TOPMed |
|
|
rs904821112 CA324797766 |
3 | A>V | No |
ClinGen TOPMed |
|
|
CA411828057 rs1219697882 |
4 | E>Q | No |
ClinGen TOPMed |
|
|
rs1264794822 CA411828034 |
5 | R>G | No |
ClinGen TOPMed |
|
|
CA324797764 rs529496470 |
5 | R>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA324797765 rs529496470 |
5 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA411828012 rs1601779422 |
6 | G>A | No |
ClinGen Ensembl |
|
|
CA324797763 rs917647661 |
7 | P>L | No |
ClinGen TOPMed |
|
|
rs146647114 CA10273869 |
9 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411827970 rs1475390266 |
9 | R>L | No |
ClinGen TOPMed |
|
|
rs146647114 CA411827978 |
9 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1247020745 CA411827967 |
10 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1247020745 CA411827966 |
10 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1330643909 CA411827942 |
12 | A>T | No |
ClinGen gnomAD |
|
|
CA411827934 rs1284288883 |
12 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA411827928 rs929443062 |
13 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1384080253 CA411827924 |
13 | E>G | No |
ClinGen TOPMed |
|
|
rs929443062 CA324797762 |
13 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10273868 rs761172069 |
14 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411827912 rs761172069 |
14 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411827889 rs1325881322 |
15 | S>N | No |
ClinGen TOPMed |
|
|
CA411827876 rs1405609032 |
16 | S>C | No |
ClinGen TOPMed |
|
|
CA411827872 rs1220194886 |
16 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1246419354 CA411827859 |
17 | P>Q | No |
ClinGen gnomAD |
|
|
CA411827851 rs1261039022 |
18 | G>D | No |
ClinGen TOPMed |
|
|
rs1352405528 CA411827824 |
20 | T>M | No |
ClinGen TOPMed |
|
|
CA411827821 rs1273409246 |
21 | P>S | No |
ClinGen gnomAD |
|
|
CA411827808 rs1260455424 |
22 | E>Q | No |
ClinGen TOPMed |
|
|
rs1345887180 CA411827789 |
23 | E>* | No |
ClinGen gnomAD |
|
|
rs1451722253 CA411827762 |
25 | A>V | No |
ClinGen TOPMed |
|
|
rs1601779366 CA411827757 |
26 | Q>* | No |
ClinGen Ensembl |
|
|
CA411827742 rs1322912865 |
27 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA411827740 rs1322912865 |
27 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760372815 CA10273865 |
30 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273864 rs775332035 |
32 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771409972 CA411827655 |
35 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1305023149 CA411827649 |
36 | G>D | No |
ClinGen TOPMed |
|
|
CA324797759 rs963593140 |
36 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA411827652 rs963593140 |
36 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA324797758 rs910836514 |
37 | P>T | No |
ClinGen TOPMed |
|
|
CA324797757 rs986079627 |
38 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA411827637 rs1242197352 |
38 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1449850283 CA411827631 |
40 | R>C | No |
ClinGen gnomAD |
|
|
rs1030807807 CA324797755 |
43 | G>E | No |
ClinGen TOPMed |
|
|
rs866648578 CA324797754 |
44 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1422862559 CA411827579 |
48 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1422862559 CA411827578 |
48 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA10273861 rs778082774 |
49 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1434384212 CA411827562 |
50 | G>V | No |
ClinGen gnomAD |
|
|
rs1429620461 CA411827550 |
52 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1429620461 CA411827551 |
52 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1170800611 CA411827520 |
57 | E>G | No |
ClinGen gnomAD |
|
|
CA411827503 rs1249740556 |
59 | E>G | No |
ClinGen gnomAD |
|
|
TCGA novel rs1601779272 CA411827507 |
59 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
| TCGA novel | 62 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10273844 rs146360108 |
62 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1178780365 CA411826598 |
62 | D>N | No |
ClinGen gnomAD |
|
|
CA411826593 rs571455195 |
63 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs571455195 CA10273843 |
63 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs571455195 CA10273842 |
63 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 69 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372947951 CA10273839 CA411826542 |
70 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780195168 CA10273838 |
71 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA411826537 rs1569487382 |
71 | Q>R | No |
ClinGen Ensembl |
|
|
rs758671922 CA10273837 |
72 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321600519 CA411826509 |
75 | V>A | No |
ClinGen TOPMed |
|
|
CA10273835 rs143398079 |
75 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA10273834 rs757051706 |
77 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764196779 CA10273832 |
79 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551542930 CA10273831 |
80 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs994150947 CA411826474 |
80 | D>G | No |
ClinGen gnomAD |
|
|
rs994150947 CA324797125 |
80 | D>V | No |
ClinGen gnomAD |
|
|
rs1277275363 CA411826471 |
81 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA411826451 rs138951 |
84 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767237272 CA10273829 |
84 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_052413 rs138951 CA10273830 |
84 | R>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs773921560 CA10273827 |
85 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA411826437 rs1601776744 |
86 | V>G | No |
ClinGen Ensembl |
|
|
CA10273826 rs765617531 |
86 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145807587 CA10273823 |
87 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10273825 rs780160505 |
87 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 89 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411826413 rs746080730 CA10273819 |
90 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747045520 CA10273822 |
90 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA10273821 rs775582153 |
90 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA411826409 rs1311114774 |
91 | P>R | No |
ClinGen gnomAD |
|
|
CA10273818 rs779062023 |
91 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757072189 CA10273817 |
92 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150601768 CA10273815 |
93 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150601768 CA411826397 |
93 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150601768 CA10273816 |
93 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA324797106 rs988542783 |
94 | G>A | No |
ClinGen gnomAD |
|
|
CA10273811 rs140311334 |
95 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10273812 VAR_052414 rs13058467 |
95 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10273808 rs762176522 |
96 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10273809 rs762176522 |
96 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1340485386 CA411826371 |
98 | C>Y | No |
ClinGen TOPMed |
|
|
CA10273805 rs776029715 CA10273804 |
99 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411826363 rs1228047435 |
99 | Y>C | No |
ClinGen TOPMed |
|
|
CA10273806 rs764547916 |
99 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1447821917 CA411826357 |
100 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778941159 CA10273802 |
102 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411826346 rs1229466288 |
102 | I>V | No |
ClinGen gnomAD |
|
|
rs957577222 CA324797096 |
103 | V>A | No |
ClinGen TOPMed |
|
|
CA10273801 rs561449732 |
103 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10273800 rs771073540 |
104 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA411826326 rs1225238009 |
105 | R>S | No |
ClinGen gnomAD |
|
|
CA411826317 rs1410241196 |
107 | S>G | No |
ClinGen gnomAD |
|
|
rs749050429 CA10273799 |
107 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA411826309 rs531049775 CA10273797 |
108 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531049775 CA411826307 |
108 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10273796 rs115093979 |
109 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs573266535 CA10273794 |
111 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411826253 rs1389974085 |
112 | A>S | No |
ClinGen gnomAD |
|
|
rs1426415495 CA411826222 |
114 | P>R | No |
ClinGen gnomAD |
|
|
rs779710957 CA10273792 |
114 | P>S | No |
ClinGen ExAC |
|
|
CA411826217 rs1443358076 |
115 | N>D | No |
ClinGen Ensembl |
|
| rs34872708 | 115 | N>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411826209 rs1365972422 |
115 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA411826200 rs1167653343 |
116 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA411825309 rs1196028040 |
117 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1416677 CA10273773 rs745511521 |
119 | L>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs376712403 CA10273772 |
120 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10273770 rs753018642 |
121 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273771 rs756405118 |
121 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10273767 rs146544878 |
123 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146544878 CA10273768 |
123 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10273765 rs763191449 COSM40222 |
125 | T>M | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs765566985 CA10273763 |
126 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA10273762 COSM1682310 rs751449431 |
127 | R>C | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs372418774 CA10273761 |
127 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411825006 rs372418774 |
127 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411824995 rs1157614366 |
128 | V>M | No |
ClinGen gnomAD |
|
|
rs2071723 CA10273760 |
130 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411824928 rs1471407938 |
130 | H>R | No |
ClinGen gnomAD |
|
|
CA411824914 rs545549483 |
131 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545549483 CA10273758 |
131 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10273757 rs771565831 |
131 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778481013 CA10273755 |
132 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs934427420 CA324796495 |
132 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1252531836 CA411824810 |
135 | L>P | No |
ClinGen TOPMed |
|
|
rs374395062 CA10273754 |
136 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749008070 CA10273753 |
137 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1437717992 CA411824771 |
137 | Q>R | No |
ClinGen TOPMed |
|
|
rs755427769 CA10273751 |
138 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA10273752 rs559960428 |
138 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10273747 rs750550537 |
140 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324796479 rs750550537 |
140 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761911874 CA324796476 |
143 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765513728 CA10273746 |
143 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA411824630 rs1386294632 |
144 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs146339492 CA10273743 |
144 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10273744 rs146339492 |
144 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1471997791 CA411824600 |
145 | M>I | No |
ClinGen gnomAD |
|
|
rs1268699369 CA411824618 |
145 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA411824615 rs1268699369 |
145 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA411824591 rs1387430455 |
146 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1387430455 CA411824590 |
146 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs775224839 CA10273741 |
147 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1213032257 CA411824510 |
149 | M>I | No |
ClinGen gnomAD |
|
|
rs772011320 CA10273740 |
149 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745334558 CA10273739 |
150 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284828133 CA411824486 |
151 | I>T | No |
ClinGen gnomAD |
|
|
CA10273738 rs370122397 |
151 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA10273736 rs748878190 |
154 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA10273737 rs770476034 |
154 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10273732 rs780655282 |
155 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA10273734 rs138301138 |
155 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10273733 rs138301138 |
155 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411824369 rs1268546933 |
158 | P>A | No |
ClinGen gnomAD |
|
|
CA411824348 rs963494325 |
159 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA324796458 rs963494325 |
159 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs199782496 CA10273730 |
160 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411824327 rs1569486511 |
160 | T>K | No |
ClinGen Ensembl |
|
|
CA10273727 rs79380334 |
163 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA10273728 rs769972746 |
163 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273726 rs764381591 |
164 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424981530 CA411824251 |
164 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10273724 rs752512904 |
166 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1198093238 CA411824161 |
169 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs759445558 CA10273722 |
170 | M>L | No |
ClinGen ExAC |
|
|
CA411824046 rs1489819341 |
174 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs762528245 CA10273719 |
176 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs770341809 CA10273720 |
176 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs772678815 CA10273718 |
178 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1362782089 CA411823910 |
181 | H>R | No |
ClinGen gnomAD |
|
|
rs747292298 CA10273716 |
182 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10273717 rs769505266 |
182 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273687 rs142109579 |
183 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10273686 rs751377605 |
183 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA411823233 rs1310666170 |
184 | A>D | No |
ClinGen TOPMed |
|
|
CA411823234 rs1230233717 |
184 | A>T | No |
ClinGen TOPMed |
|
|
rs909696101 CA324796155 |
186 | E>* | No |
ClinGen Ensembl |
|
|
rs1569486264 CA411823207 |
188 | M>V | No |
ClinGen Ensembl |
|
|
CA324796152 rs554619232 |
189 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA10273682 rs150679109 |
191 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324796147 rs891174657 |
193 | I>V | No |
ClinGen TOPMed |
|
|
CA411823109 rs1161084257 |
194 | M>T | No |
ClinGen gnomAD |
|
|
rs1384324252 CA411823080 |
196 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10273680 rs776357499 |
197 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324796142 rs892975967 |
198 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs369673894 CA10273678 |
199 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1416673 CA10273675 rs148175933 |
200 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10273676 rs774813503 |
200 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749783085 CA10273674 |
202 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA411822982 rs1378567641 |
203 | H>Y | No |
ClinGen TOPMed |
|
|
CA324796134 rs949767800 |
204 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA324796132 rs907580452 |
204 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs748236067 CA10273671 |
205 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10273668 rs538558581 |
206 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411822934 rs1454195985 |
206 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA324796125 rs1002430514 |
208 | S>G | No |
ClinGen Ensembl |
|
|
CA10273666 rs779874669 |
208 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10273664 rs199520351 |
209 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780887034 CA324796120 |
210 | A>G | No |
ClinGen Ensembl |
|
|
CA411822869 rs765091372 |
210 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs765091372 CA10273663 |
210 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1240547 rs756769700 CA10273662 |
211 | T>M | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA411822846 rs1490311610 |
212 | A>T | No |
ClinGen gnomAD |
|
|
CA10273660 rs763803905 |
213 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10273656 rs773707631 |
214 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10273657 rs766759547 |
214 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs770304301 CA10273654 |
215 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1569486193 CA411822770 |
216 | Y>C | No |
ClinGen Ensembl |
|
|
rs761841258 CA10273653 |
217 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs768771118 CA10273651 |
218 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273652 rs776660733 |
218 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA324796104 rs892550157 |
219 | Q>H | No |
ClinGen gnomAD |
|
|
rs1406504772 CA411822715 |
219 | Q>L | No |
ClinGen gnomAD |
|
|
rs780210106 CA10273649 |
220 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA10273648 rs771834376 |
222 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1208491832 CA411822668 |
222 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10273646 rs778946350 |
223 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10273647 rs745663681 |
223 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA10273645 rs753869886 |
224 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273644 COSM1034856 rs753869886 |
224 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 225 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1250182844 COSM3405702 CA411822588 |
227 | W>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1010310810 CA324796095 |
228 | P>L | No |
ClinGen TOPMed |
|
|
CA10273640 rs767087097 |
228 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10273641 rs767087097 |
228 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 230 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411822518 rs1338440571 |
232 | L>V | No |
ClinGen TOPMed |
|
|
rs200990030 CA10273638 |
235 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10273635 rs777178577 |
236 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777178577 CA411822449 |
236 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1033987469 CA324796043 |
236 | E>V | No |
ClinGen Ensembl |
|
|
CA411822393 rs764622788 |
238 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA10273600 rs764622788 |
238 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA324796040 rs533748522 |
239 | T>I | No |
ClinGen gnomAD |
|
|
CA10273598 rs201494573 |
240 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10273597 rs201494573 |
240 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411822382 rs759732112 |
240 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA10273596 rs759732112 |
240 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10273593 rs762792682 |
244 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10273594 rs373925828 |
244 | Y>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769678949 CA10273591 |
245 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273590 rs748021901 |
247 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411822324 rs1163338872 |
249 | P>H | No |
ClinGen gnomAD |
|
|
rs1423672150 CA411822320 |
250 | L>V | No |
ClinGen gnomAD |
|
|
rs746537312 CA10273587 COSM1230835 |
252 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10273588 rs767983108 |
252 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10273584 rs137974511 |
255 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411822288 rs1448597786 |
255 | M>L | No |
ClinGen gnomAD |
|
|
CA411822279 rs1221428007 |
256 | L>P | No |
ClinGen gnomAD |
|
|
CA10273582 rs544293351 |
258 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411822258 rs1338838123 |
260 | A>T | No |
ClinGen gnomAD |
|
|
CA411822246 rs1601774018 |
262 | T>P | No |
ClinGen Ensembl |
|
|
CA10273579 rs755057120 |
262 | T>S | No |
ClinGen ExAC TOPMed |
|
|
CA10273578 rs751718642 |
263 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403458824 COSM1616526 CA411822233 |
264 | M>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA10273576 rs146960427 |
267 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146960427 CA411822212 |
267 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10273575 rs763241482 |
270 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA411822181 rs1418174742 |
271 | T>I | No |
ClinGen gnomAD |
|
|
rs868018802 CA324796006 |
272 | P>L | No |
ClinGen Ensembl |
|
|
rs369473170 CA10273574 |
272 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411822175 rs1424208464 |
273 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10273571 COSM1034854 rs148865013 |
274 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10273568 rs771622961 |
276 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771622961 CA10273567 |
276 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778696574 CA10273565 |
277 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411822141 rs1335732126 |
278 | H>R | No |
ClinGen TOPMed |
|
|
rs1216382209 CA411822143 |
278 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 279 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs930319599 CA324795997 |
280 | Q>* | No |
ClinGen TOPMed |
|
|
rs748564645 CA10273563 |
280 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273537 rs202216754 |
281 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10273536 rs757472594 |
281 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs967074148 CA324792577 |
282 | I>T | No |
ClinGen TOPMed |
|
|
CA411821628 rs1215636707 |
282 | I>V | No |
ClinGen gnomAD |
|
|
rs1286701764 CA411821623 |
283 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10273535 rs548022171 |
284 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs867057097 CA324792570 |
285 | E>K | No |
ClinGen Ensembl |
|
|
CA411821600 rs1397392837 |
286 | N>S | No |
ClinGen TOPMed |
|
|
CA10273534 rs761036032 |
287 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273532 rs140875180 |
289 | K>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1047784145 CA324792553 |
290 | L>P | No |
ClinGen Ensembl |
|
|
CA411821565 rs1429873420 |
291 | P>L | No |
ClinGen gnomAD |
|
|
CA411821567 rs1429873420 |
291 | P>Q | No |
ClinGen gnomAD |
|
|
rs1429873420 CA411821566 |
291 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 291 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343224781 CA411821562 |
292 | L>F | No |
ClinGen gnomAD |
|
|
rs752566196 CA10273530 |
293 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273529 rs767459538 |
294 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370790103 CA324792546 |
294 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA411821540 rs1425654013 |
295 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs758926614 CA10273528 |
295 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273527 rs773877585 |
296 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324792530 rs199719540 |
296 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10273525 rs11704935 |
297 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_052415 CA10273524 rs11704935 |
297 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA411821527 rs1354023708 |
298 | V>A | No |
ClinGen gnomAD |
|
|
CA10273521 rs776090387 |
299 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324792512 rs1004229121 |
299 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10273520 rs772738827 |
300 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411821514 rs370892309 |
301 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324792483 rs370892309 |
301 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1601771529 CA411821512 |
301 | H>P | No |
ClinGen Ensembl |
|
|
CA10273517 rs370892309 |
301 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755847390 CA10273514 |
302 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs755847390 CA411821497 |
302 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA411821502 rs777979776 |
302 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273515 rs777979776 |
302 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146802917 CA324792472 |
303 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs752514845 CA10273513 |
304 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA10273512 rs142342521 |
304 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752514845 CA411821485 |
304 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1426373141 CA411821471 |
305 | F>L | No |
ClinGen gnomAD |
|
|
CA324792465 rs899663449 |
306 | K>Q | No |
ClinGen TOPMed |
|
|
rs530411060 CA10273511 |
306 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs530411060 CA411821453 |
306 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411821217 rs1356111516 |
307 | V>D | No |
ClinGen gnomAD |
|
|
rs1189329455 CA411821223 |
307 | V>F | No |
ClinGen TOPMed |
|
|
rs377192068 CA10273444 |
309 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368262822 CA10273441 |
311 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411821144 rs1384776658 |
312 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs192363255 CA10273440 |
313 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs970239388 CA411821083 |
317 | S>N | No |
ClinGen gnomAD |
|
|
rs970239388 CA324791019 |
317 | S>T | No |
ClinGen gnomAD |
|
|
rs1021385531 CA324791015 |
318 | L>P | No |
ClinGen Ensembl |
|
|
CA10273438 rs115376417 |
319 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411821053 rs1569484736 |
320 | H>Y | No |
ClinGen Ensembl |
|
|
rs1189540494 CA411821031 |
321 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA411821024 rs1278999520 |
322 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs758764890 CA10273436 |
322 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs750868283 CA411820995 |
324 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750868283 CA10273435 |
324 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273434 rs765755267 |
325 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 327 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411820941 rs776542606 |
328 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10273431 rs776542606 |
328 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs202096487 CA10273430 |
330 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs771928793 CA10273427 |
332 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1361515916 CA411820890 |
332 | A>V | No |
ClinGen gnomAD |
|
|
rs375493928 CA10273425 COSM1034853 |
333 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1411082374 CA411820872 |
334 | I>L | No |
ClinGen gnomAD |
|
|
CA411820856 rs1164483643 |
335 | L>F | No |
ClinGen gnomAD |
|
|
CA10273423 rs749292560 |
337 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA411820825 rs1372399553 |
337 | N>S | No |
ClinGen gnomAD |
|
|
rs369903948 CA10273422 |
340 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10273421 rs755712357 |
341 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10273420 rs748650299 |
341 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273419 rs780832686 |
342 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA411820762 rs1450067077 |
342 | K>R | No |
ClinGen gnomAD |
|
|
rs1210475334 CA411820755 |
343 | D>N | No |
ClinGen gnomAD |
|
|
CA10273418 rs758711853 |
344 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA324790781 rs200884689 |
346 | K>Q | No |
ClinGen Ensembl |
|
|
CA411820206 rs772971087 |
348 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs772971087 CA10273384 |
348 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1279774040 CA411820182 |
351 | R>K | No |
ClinGen gnomAD |
|
|
CA10273383 rs540380920 |
351 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324790768 rs866721416 |
352 | P>L | No |
ClinGen Ensembl |
|
|
rs776096968 CA10273382 |
353 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776096968 CA10273381 |
353 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273379 COSM1566429 rs746660164 |
354 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs755310999 CA324790745 |
355 | L>P | No |
ClinGen Ensembl |
|
|
rs779687282 CA10273378 |
358 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411820145 rs779687282 |
358 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273377 rs771144867 |
358 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA10273375 rs778105234 |
359 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1007515201 CA324790714 |
360 | P>R | No |
ClinGen Ensembl |
|
| TCGA novel | 360 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753308819 CA411820121 |
361 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411820127 rs1419383585 |
361 | C>R | No |
ClinGen gnomAD |
|
|
CA411820125 rs1214636681 |
361 | C>Y | No |
ClinGen TOPMed |
|
|
rs577280161 CA10273371 |
362 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10273368 rs766643118 |
362 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273370 rs577280161 |
362 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577280161 CA10273369 |
362 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411820112 rs1251722574 |
363 | N>S | No |
ClinGen TOPMed |
|
|
CA10273366 rs750199605 |
364 | L>R | No |
ClinGen ExAC |
|
|
CA411820102 rs1484515647 |
365 | L>Q | No |
ClinGen gnomAD |
|
|
rs1216303149 CA411820093 |
367 | V>I | No |
ClinGen gnomAD |
|
|
rs1382566106 CA411820086 |
368 | K>E | No |
ClinGen TOPMed |
|
|
rs761796579 CA10273364 |
369 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA411820069 rs1283465317 |
370 | C>Y | No |
ClinGen gnomAD |
|
|
rs1353803549 CA411820058 |
372 | A>P | No |
ClinGen gnomAD |
|
|
rs1353803549 CA411820059 |
372 | A>T | No |
ClinGen gnomAD |
|
|
rs373423870 CA10273363 |
373 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324790646 rs143374565 |
373 | S>F | No |
ClinGen ESP |
|
|
rs763528031 CA10273362 |
374 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411820043 rs1303255563 |
375 | A>S | No |
ClinGen gnomAD |
|
|
CA411820042 rs1303255563 |
375 | A>T | No |
ClinGen gnomAD |
|
|
rs372425100 CA10273360 |
375 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10273357 rs773607417 |
376 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273356 rs770118763 |
376 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA411820034 rs748664314 |
377 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781766958 CA411820032 |
377 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781766958 CA10273354 |
377 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273355 rs748664314 |
377 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 377 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755057142 CA10273353 |
378 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1477053267 CA411820023 |
379 | G>D | No |
ClinGen gnomAD |
|
|
rs1193512416 CA411820025 |
379 | G>R | No |
ClinGen gnomAD |
|
|
CA411820019 rs1292451620 |
380 | G>S | No |
ClinGen gnomAD |
|
|
CA10273351 rs780036299 |
380 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410140956 CA411820014 |
381 | P>A | No |
ClinGen gnomAD |
|
|
rs778703258 CA10273349 |
382 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 382 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264404061 CA411819985 |
385 | P>L | No |
ClinGen gnomAD |
|
|
rs765075574 CA10273348 |
386 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA10273345 rs764042589 |
388 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA10273346 rs753718721 |
388 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10273344 rs143120877 |
389 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10273343 rs143120877 |
389 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10273341 rs759217536 |
390 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA10273339 rs770133802 |
392 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273338 rs748541589 |
392 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs747566445 CA10273335 |
394 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273334 rs780167798 |
394 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780167798 CA411819938 |
394 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554827931 CA411819935 |
395 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10273333 rs554827931 |
395 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA324790424 rs914438792 |
397 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs779017052 CA10273331 |
398 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411819917 rs1189054032 |
398 | P>S | No |
ClinGen gnomAD |
|
|
CA411819912 rs1463215992 |
399 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1463215992 CA411819914 |
399 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1198010903 CA411819898 |
401 | V>I | No |
ClinGen gnomAD |
|
|
CA324790402 rs112400406 |
402 | S>C | No |
ClinGen Ensembl |
|
|
CA10273330 rs756997725 |
403 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1250146673 CA411819872 CA411819871 |
404 | F>L | No |
ClinGen Ensembl |
|
|
rs753665839 CA10273328 |
405 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411819856 rs909253273 |
406 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10273326 rs756026859 |
407 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3405701 rs763918205 CA10273327 |
407 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA411819848 rs1464565945 |
408 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1231085740 CA411819851 |
408 | E>Q | No |
ClinGen TOPMed |
|
|
CA411819844 rs1403046365 |
409 | R>G | No |
ClinGen gnomAD |
|
|
CA10273324 rs767053870 |
409 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558669150 CA10273283 |
410 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10273281 rs754824961 |
412 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs200883625 CA10273279 |
416 | W>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA411819781 rs1164536531 |
416 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA324789796 rs920217109 |
417 | I>F | No |
ClinGen Ensembl |
|
|
CA411819757 rs1426153983 |
419 | K>R | No |
ClinGen TOPMed |
|
|
rs758050484 CA10273277 |
420 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs974328066 CA411819750 |
420 | P>H | No |
ClinGen gnomAD |
|
|
rs974328066 CA324789780 |
420 | P>L | No |
ClinGen gnomAD |
|
|
rs758050484 CA411819752 |
420 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA10273276 rs750086919 |
422 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA10273275 rs546473540 |
422 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 423 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318515990 CA411819732 |
423 | L>V | No |
ClinGen gnomAD |
|
|
rs1157037866 CA411819727 |
424 | A>T | No |
ClinGen TOPMed |
|
|
rs752963559 CA10273273 |
424 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199982346 CA10273271 |
425 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774841476 CA10273270 |
425 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774841476 CA411819720 |
425 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774841476 CA411819721 |
425 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434350753 CA411819714 |
426 | S>I | No |
ClinGen TOPMed |
|
|
rs763073998 CA10273268 |
428 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA411819699 rs1449955578 |
429 | T>A | No |
ClinGen gnomAD |
|
|
CA411819696 rs1292100755 |
429 | T>N | No |
ClinGen gnomAD |
|
|
rs1449955578 CA411819698 |
429 | T>S | No |
ClinGen gnomAD |
|
|
CA10273266 rs769870677 |
430 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs776233681 CA411819686 |
431 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776233681 CA10273264 |
431 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363044102 CA411819680 |
432 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 433 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10273263 rs149781023 |
434 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1327323194 CA411819658 |
435 | L>P | No |
ClinGen gnomAD |
|
|
CA10273261 rs780198935 |
435 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273260 rs199790606 |
436 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 437 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411819645 rs1399425324 |
437 | S>N | No |
ClinGen gnomAD |
|
|
rs745411382 CA10273259 |
438 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273257 rs140978283 |
440 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778596847 CA10273258 |
440 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM445088 CA10273255 rs767704612 |
442 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs755433997 CA10273254 |
442 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569509917 CA324789701 |
445 | T>I | No |
ClinGen Ensembl |
|
|
CA10273250 rs773231320 |
446 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273251 rs773231320 |
446 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273249 rs765375714 |
447 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA10273247 rs776979748 |
447 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs761876997 CA411819587 |
447 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761876997 CA10273248 |
447 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411819570 rs1217627508 |
448 | V>I | No |
ClinGen TOPMed |
|
|
CA411819563 rs1413728725 |
449 | V>L | No |
ClinGen gnomAD |
|
|
CA324788448 rs970940098 |
451 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs35154580 CA324788437 |
451 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs35154580 CA10273216 |
451 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373585281 CA324788426 |
453 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs373537068 CA10273215 |
453 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10273214 rs750883430 |
454 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1258489023 CA411819533 |
454 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA411819532 rs1258489023 |
454 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10273213 rs369941321 |
455 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753913805 CA10273211 |
457 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753913805 CA324788406 |
457 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293672318 CA411819507 |
458 | L>S | No |
ClinGen gnomAD |
|
|
CA411819509 rs1569483959 |
458 | L>V | No |
ClinGen Ensembl |
|
|
rs764103208 CA10273210 |
459 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338678061 CA411819500 |
459 | F>S | No |
ClinGen gnomAD |
|
|
CA10273209 rs537571436 |
460 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411819490 rs1305488554 |
461 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201676990 CA324788393 |
461 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10273208 rs201676990 |
461 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs959039107 CA411819474 |
463 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs34074034 CA324788379 |
464 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34074034 VAR_052416 CA10273207 |
464 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1000441759 CA324788372 |
465 | G>E | No |
ClinGen Ensembl |
|
|
rs759458579 CA10273206 |
465 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs774130200 CA10273205 |
466 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411819460 rs770937089 |
466 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201450134 CA324788366 |
466 | K>R | No |
ClinGen Ensembl |
|
|
CA10273203 rs762825330 |
468 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1601768316 CA411819430 |
470 | D>A | No |
ClinGen Ensembl |
|
|
rs185610797 CA10273200 |
470 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1601768309 COSM3694101 CA411819418 |
471 | I>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA10273199 rs776325002 |
472 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750631143 CA324788329 |
472 | R>H | No |
ClinGen Ensembl |
|
|
CA10273198 rs376943146 |
474 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA324788325 rs1010415052 |
474 | I>V | No |
ClinGen gnomAD |
|
|
rs754514158 CA324788302 |
475 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754514158 CA10273196 |
475 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324788301 rs201592696 |
476 | L>R | No |
ClinGen gnomAD |
|
|
rs1367083106 CA411819358 |
476 | L>V | No |
ClinGen gnomAD |
|
|
rs749772478 CA10273195 |
477 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs140090670 CA10273193 |
478 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324788290 rs11554504 |
478 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10273192 rs756327933 |
480 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1375083006 CA411819326 |
480 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1375083006 CA411819328 |
480 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA324788267 rs879169616 |
482 | P>T | No |
ClinGen Ensembl |
|
|
CA10273190 rs767898159 |
483 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA324788211 rs542327415 |
484 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA324788223 rs542327415 |
484 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1469377978 CA411819288 |
484 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA411819274 rs1410524848 |
485 | L>F | No |
ClinGen TOPMed |
|
|
rs766104517 CA10273185 |
487 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs751325024 CA10273186 |
487 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10273182 rs147523583 |
488 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147523583 CA10273183 |
488 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762886119 CA10273184 |
488 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs375398995 CA324788152 |
490 | V>A | No |
ClinGen ESP |
|
|
CA10273181 rs761362988 |
490 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA411819210 rs1393403209 |
492 | W>R | No |
ClinGen TOPMed |
|
|
rs746662591 CA10273178 |
494 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768259203 CA10273179 |
494 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771202366 CA10273177 |
497 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771202366 CA10273176 |
497 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273174 rs200712872 |
498 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411818606 rs756238086 |
498 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756238086 CA10273173 |
498 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200712872 CA10273175 |
498 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1295471922 CA411818586 |
500 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA324787619 rs923536692 |
501 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10273145 rs763653820 |
502 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA411818574 rs763653820 |
502 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs543794352 CA10273142 |
503 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411818567 rs1398457638 |
503 | N>S | No |
ClinGen gnomAD |
|
|
rs1159136281 CA411818563 |
504 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs773659551 CA10273140 |
506 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10273141 rs759288950 |
506 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs770291460 CA10273139 |
507 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411818536 rs1475384813 |
508 | Y>H | No |
ClinGen gnomAD |
|
|
CA411818528 rs777337041 |
509 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777337041 CA10273137 |
509 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 510 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768761382 CA10273136 |
511 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10273135 rs747099971 |
513 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411818494 rs1275545820 |
514 | V>I | No |
ClinGen gnomAD |
|
|
rs1234321955 CA411818482 |
515 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 516 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10273130 rs757110122 |
517 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539963608 CA10273131 |
517 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10273132 rs539963608 |
517 | Y>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10273129 rs374153501 |
519 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200261136 CA10273127 |
520 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 520 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392228966 CA411818446 |
521 | V>M | No |
ClinGen gnomAD |
|
|
rs1166958150 CA411818437 |
522 | V>E | No |
ClinGen gnomAD |
|
|
rs149252547 CA10273125 |
525 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1332201938 CA411818395 |
527 | H>P | No |
ClinGen gnomAD |
|
|
rs1332201938 CA411818394 |
527 | H>R | No |
ClinGen gnomAD |
|
|
rs1390032668 CA411818382 |
529 | E>K | No |
ClinGen gnomAD |
|
|
CA411818357 rs1398483612 |
532 | I>V | No |
ClinGen TOPMed |
|
|
rs768576308 CA10273054 |
533 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs199848007 CA411818345 |
534 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771459750 CA10273051 |
534 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA10273052 rs199848007 |
534 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411818342 rs1345346270 |
534 | E>V | No |
ClinGen gnomAD |
|
|
CA10273050 rs745421406 |
535 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10273049 rs778316130 |
538 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA10273048 rs770564989 |
538 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748949098 CA10273046 |
540 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs971273958 CA324785476 |
541 | E>A | No |
ClinGen Ensembl |
|
|
rs201855582 CA10273045 |
542 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138428335 CA10273044 COSM1416669 |
545 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200517252 CA10273042 |
546 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10273039 rs765246532 |
547 | V>A | No |
ClinGen ExAC |
|
|
CA10273040 rs374575772 |
547 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 548 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411818191 rs1289342503 |
548 | Q>H | No |
ClinGen gnomAD |
|
|
CA10273038 rs757433882 |
548 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405689251 CA411818084 |
549 | A>V | No |
ClinGen gnomAD |
|
|
CA411818072 rs1166302911 |
550 | E>G | No |
ClinGen gnomAD |
|
|
CA411818080 rs1396080473 |
550 | E>Q | No |
ClinGen gnomAD |
|
|
rs371460098 CA411818065 |
551 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371460098 CA10273007 |
551 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10273005 rs746375120 |
553 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772385669 CA10273006 |
553 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA411818022 rs1200066961 |
554 | A>D | No |
ClinGen gnomAD |
|
|
CA411818028 rs1255390523 |
554 | A>T | No |
ClinGen gnomAD |
|
|
rs1271873634 CA411818000 |
556 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10273003 rs757379574 |
556 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs953093529 CA411817978 |
557 | E>D | No |
ClinGen gnomAD |
|
|
CA10273001 rs150540626 |
559 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411817891 rs1474541104 |
564 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA411817900 rs1361804412 |
564 | A>T | No |
ClinGen TOPMed |
|
|
CA10273000 rs756346546 |
565 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1276745943 CA411817863 |
566 | P>L | No |
ClinGen TOPMed |
|
|
rs200317031 CA324784726 |
568 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1263000483 CA411817846 |
568 | P>S | No |
ClinGen gnomAD |
|
|
CA10272999 rs752863332 |
572 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs751490280 CA10272996 |
573 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10272997 rs141714754 |
573 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411817763 CA324784696 rs570867358 |
574 | Y>* | No |
ClinGen gnomAD |
|
|
CA411817767 rs1427878148 |
574 | Y>C | No |
ClinGen gnomAD |
|
|
CA411817752 rs1231528688 |
575 | P>R | No |
ClinGen gnomAD |
|
|
CA411817760 rs1470002077 |
575 | P>T | No |
ClinGen gnomAD |
|
|
CA324784670 rs371925403 |
576 | S>* | No |
ClinGen ESP |
|
|
CA411817713 rs138020386 |
578 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764735601 CA411817709 |
578 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10272992 rs764735601 |
578 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10272993 rs138020386 |
578 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10272990 rs776205052 |
580 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA411817687 rs1280664611 |
580 | M>T | No |
ClinGen gnomAD |
|
|
rs566341575 CA10272991 |
580 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs772461842 CA10272989 |
581 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1277535717 CA411817658 |
582 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1351370664 CA411817657 |
583 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs749825247 CA10272985 |
584 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749825247 CA10272986 |
584 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212507986 CA411817645 |
585 | L>V | No |
ClinGen gnomAD |
|
|
CA411817635 rs1293688765 |
586 | M>R | No |
ClinGen gnomAD |
|
|
CA10272983 rs201537260 |
586 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411817629 rs1400601624 |
587 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs950193447 CA324784557 |
588 | K>M | No |
ClinGen Ensembl |
|
| TCGA novel | 588 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422116394 CA411817611 |
589 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 590 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411817610 rs1161848761 |
590 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs34490661 CA10272982 |
591 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367694491 CA10272981 |
592 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367694491 CA10272980 |
592 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324784515 rs927675123 |
594 | D>N | No |
ClinGen TOPMed |
|
|
rs140388477 CA10272952 |
597 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140388477 CA10272951 |
597 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1424030703 CA411817552 |
597 | R>W | No |
ClinGen TOPMed |
|
|
rs1601765070 CA411817545 |
598 | V>G | No |
ClinGen Ensembl |
|
|
rs1449985399 CA411817550 |
598 | V>M | No |
ClinGen gnomAD |
|
|
CA324781764 rs766946753 |
599 | M>I | No |
ClinGen Ensembl |
|
|
rs1252241740 CA411817543 |
599 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755655409 CA10272950 COSM1416668 |
600 | Q>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10272949 rs752464415 |
601 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 601 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763457024 CA10272947 |
603 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA411817503 rs1276825333 |
605 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1601765035 CA411817493 |
606 | V>G | No |
ClinGen Ensembl |
|
|
CA10272946 rs773821271 |
606 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1370951992 CA411817483 |
608 | F>L | No |
ClinGen gnomAD |
|
|
CA411817473 rs1601765028 |
609 | N>T | No |
ClinGen Ensembl |
|
|
CA10272945 rs765615882 |
610 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA324781699 rs1024846750 |
611 | D>H | No |
ClinGen TOPMed |
|
|
CA411817463 COSM580157 rs1024846750 |
611 | D>N | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA411817462 rs1024846750 |
611 | D>Y | No |
ClinGen TOPMed |
|
|
CA10272942 rs760604833 |
612 | C>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA324781697 rs370792152 |
612 | C>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10272941 rs776511608 |
614 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411817441 rs776511608 |
614 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10272940 rs200539340 |
614 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138773926 CA10272939 |
618 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138773926 CA411817413 |
618 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324781655 rs745624185 |
621 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411817396 rs745624185 |
621 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745624185 CA10272936 |
621 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411817372 rs1176877466 |
624 | N>S | No |
ClinGen gnomAD |
|
|
rs369403823 CA10272934 |
625 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149141813 CA10272932 |
626 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1236070179 CA411817346 |
628 | S>N | No |
ClinGen gnomAD |
|
|
rs755704040 CA10272931 |
628 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1313199312 CA411817336 |
629 | T>I | No |
ClinGen gnomAD |
|
|
rs1601764960 CA411817340 |
629 | T>P | No |
ClinGen Ensembl |
|
|
CA411817312 rs1601764956 |
633 | D>A | No |
ClinGen Ensembl |
|
|
rs147704786 CA10272929 |
633 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1306712855 CA411817314 |
633 | D>H | No |
ClinGen gnomAD |
|
|
CA411817313 rs1306712855 |
633 | D>Y | No |
ClinGen gnomAD |
|
|
CA411817292 rs1409914717 |
636 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs754706706 CA411817294 |
636 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754706706 CA10272928 |
636 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411817290 rs1409914717 |
636 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765642099 CA10272926 |
639 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10272924 rs200016238 |
640 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1601764924 CA411817261 |
641 | T>P | No |
ClinGen Ensembl |
|
|
CA10272923 rs764058636 |
644 | V>I | No |
ClinGen ExAC gnomAD |
No associated diseases with Q14166
No regional properties for Q14166
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q14166 | |||
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| 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. |
| spindle | The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| H4K20me3 modified histone binding | Binding to a histone H4 in which the lysine residue at position 20 has been modified by trimethylation. |
| tubulin binding | Binding to monomeric or multimeric forms of tubulin, including microtubules. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| negative regulation of type I interferon-mediated signaling pathway | Any process that decreases the rate, frequency or extent of a type I interferon-mediated signaling pathway. |
| protein modification process | The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). |
| regulation of mitotic cell cycle | Any process that modulates the rate or extent of progress through the mitotic cell cycle. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAERGPERR | PAERSSPGQT | PEEGAQALAE | FAALHGPALR | ASGVPERYWG | RLLHKLEHEV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FDAGEVFGIM | QVEEVEEEED | EAAREVRKQQ | PNPGNELCYK | VIVTRESGLQ | AAHPNSIFLI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DHAWTCRVEH | ARQQLQQVPG | LLHRMANLMG | IEFHGELPST | EAVALVLEEM | WKFNQTYQLA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HGTAEEKMPV | WYIMDEFGSR | IQHADVPSFA | TAPFFYMPQQ | VAYTLLWPLR | DLDTGEEVTR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DFAYGETDPL | IRKCMLLPWA | PTDMLDLSSC | TPEPPAEHYQ | AILEENKEKL | PLDINPVVHP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HGHIFKVYTD | VQQVASSLTH | PRFTLTQSEA | DADILFNFSH | FKDYRKLSQE | RPGVLLNQFP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CENLLTVKDC | LASIARRAGG | PEGPPWLPRT | FNLRTELPQF | VSYFQQRERW | GEDNHWICKP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| WNLARSLDTH | VTKSLHSIIR | HRESTPKVVS | KYIESPVLFL | REDVGKVKFD | IRYIVLLRSV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RPLRLFVYDV | FWLRFSNRAF | ALNDLDDYEK | HFTVMNYDPD | VVLKQVHCEE | FIPEFEKQYP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EFPWTDVQAE | IFRAFTELFQ | VACAKPPPLG | LCDYPSSRAM | YAVDLMLKWD | NGPDGRRVMQ |
| 610 | 620 | 630 | 640 | ||
| PQILEVNFNP | DCERACRYHP | TFFNDVFSTL | FLDQPGGCHV | TCLV |