Q66K14
Gene name |
TBC1D9B (KIAA0676) |
Protein name |
TBC1 domain family member 9B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23061 |
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 Q66K14
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q66K14-F1 | Predicted | AlphaFoldDB |
1279 variants for Q66K14
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs945332637 CA133139462 |
2 | W>* | No |
ClinGen TOPMed |
|
|
rs1161763352 CA362472219 |
2 | W>R | No |
ClinGen gnomAD |
|
| rs1045069485 | 3 | L>A | No | TOPMed | |
|
CA3602782 rs767091996 |
4 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs949459237 | 4 | S>L | No |
TOPMed gnomAD |
|
|
rs767091996 CA362472183 |
4 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs949459237 | 4 | S>P | No |
TOPMed gnomAD |
|
| rs949459237 | 4 | S>Q | No |
TOPMed gnomAD |
|
|
CA362472180 rs767091996 |
4 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1582112213 | 4 | S>W | No | Ensembl | |
| rs1225795991 | 5 | P>D | No | TOPMed | |
|
CA362472160 rs1435487171 |
5 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3602781 rs759202339 |
6 | E>D | No |
ClinGen ExAC gnomAD |
|
| rs535289191 | 6 | E>L | No |
TOPMed gnomAD |
|
|
CA362472155 rs1485126774 |
6 | E>Q | No |
ClinGen TOPMed |
|
| rs1275144941 | 9 | L>Y | No | TOPMed | |
| rs913834329 | 10 | V>G | No | TOPMed | |
|
CA362472082 rs1210300879 |
12 | N>S | No |
ClinGen gnomAD |
|
| rs1057363996 | 12 | N>Y | No | TOPMed | |
|
rs773804030 CA362472064 |
13 | A>G | No |
ClinGen ExAC gnomAD |
|
| rs1582112180 | 13 | A>G | No | Ensembl | |
|
rs1329597037 CA362472072 |
13 | A>P | No |
ClinGen gnomAD |
|
|
rs1329597037 CA362472070 |
13 | A>S | No |
ClinGen gnomAD |
|
| rs1481550290 | 13 | A>T | No | TOPMed | |
|
rs1329597037 CA362472074 |
13 | A>T | No |
ClinGen gnomAD |
|
|
rs773804030 CA3602780 |
13 | A>V | No |
ClinGen ExAC gnomAD |
|
| rs1201231221 | 14 | L>R | No | TOPMed | |
| rs1429776017 | 15 | W>Y | No | TOPMed | |
|
rs1332800222 CA362472031 |
16 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1302017369 CA362472015 |
17 | T>M | No |
ClinGen gnomAD |
|
|
CA362471982 rs1386651777 |
19 | R>G | No |
ClinGen TOPMed gnomAD |
|
| rs185388017 | 19 | R>L | No |
1000Genomes TOPMed gnomAD |
|
|
rs562905893 CA3602778 |
19 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs185388017 | 19 | R>R | No |
1000Genomes TOPMed gnomAD |
|
|
CA362471980 rs1386651777 |
19 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA362471967 rs1458030223 |
20 | A>S | No |
ClinGen gnomAD |
|
| rs1368254131 | 20 | A>S | No | TOPMed | |
| rs1406987519 | 23 | F>A | No | gnomAD | |
| rs868681970 | 23 | F>S | No | Ensembl | |
| rs1340147568 | 25 | V>L | No | TOPMed | |
|
rs1554098577 CA3602775 |
25 | V>L | No |
ClinGen Ensembl |
|
|
rs1448365785 CA362471887 |
26 | L>P | No |
ClinGen gnomAD |
|
| rs922454143 | 27 | Q>A | No | TOPMed | |
| rs1481968142 | 27 | Q>M | No | Ensembl | |
|
CA133139432 rs958170740 |
27 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| rs533121100 | 28 | R>F | No |
TOPMed gnomAD |
|
|
rs1245751106 CA362471849 |
29 | R>H | No |
ClinGen gnomAD |
|
| rs1223529133 | 30 | R>R | No | TOPMed | |
|
rs979939453 CA133139416 |
30 | R>W | No |
ClinGen TOPMed |
|
|
CA362471831 rs1465108727 |
31 | G>D | No |
ClinGen gnomAD |
|
|
rs969944973 CA133139412 |
32 | H>D | No |
ClinGen TOPMed |
|
| rs964829053 | 33 | G>A | No | Ensembl | |
|
rs1198545370 CA362471815 |
33 | G>D | No |
ClinGen gnomAD |
|
| rs561487947 | 33 | G>N | No | 1000Genomes | |
| rs1383293224 | 35 | G>S | No | gnomAD | |
| rs1017670040 | 37 | G>H | No |
TOPMed gnomAD |
|
| rs570714099 | 39 | T>F | No |
TOPMed gnomAD |
|
|
CA362471737 rs1445633380 |
39 | T>M | No |
ClinGen TOPMed |
|
| rs1451062070 | 40 | G>S | No |
TOPMed gnomAD |
|
|
rs950385496 CA133138144 |
42 | L>P | No |
ClinGen TOPMed |
|
|
CA362470997 rs1355848305 |
42 | L>V | No |
gnomAD ClinGen |
|
|
rs754146906 CA362470983 CA3602765 |
43 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3602764 rs754146906 |
43 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362470943 rs1302162418 |
44 | G>V | No |
ClinGen TOPMed |
|
|
rs973131872 CA133138133 |
45 | T>P | No |
TOPMed gnomAD ClinGen |
|
|
CA3602762 rs759149480 |
46 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs147600483 CA3602760 |
48 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA362470876 CA362470866 rs1309261538 |
49 | V>L | No |
ClinGen gnomAD |
|
|
CA133138121 rs1008610892 |
51 | D>G | No |
Ensembl ClinGen |
|
|
rs890054112 CA133138102 |
53 | S>N | No |
gnomAD ClinGen |
|
|
rs1007768626 CA133138096 |
54 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
rs769557594 CA3602757 |
55 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761861438 CA3602756 |
55 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362470737 rs370195814 CA133138088 |
56 | V>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs370195814 CA3602754 |
56 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 58 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA133138078 rs1037221492 |
60 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
CA133138076 rs1037221492 |
60 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs542672577 CA3602751 |
63 | H>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA362470620 rs1287902140 |
63 | H>Y | No |
gnomAD ClinGen |
|
|
CA362470570 rs1288071167 |
66 | Q>* | No |
gnomAD ClinGen |
|
|
rs1324667077 CA362470562 |
66 | Q>R | No |
ClinGen TOPMed |
|
|
CA362470548 rs1226967048 |
67 | D>G | No |
gnomAD ClinGen |
|
|
rs868759825 CA133138066 |
67 | D>H | No |
ClinGen Ensembl |
|
|
rs868759825 CA133138064 |
67 | D>Y | No |
ClinGen Ensembl |
|
|
CA362470530 rs1230218701 |
70 | V>I | No |
TOPMed ClinGen |
|
|
CA362470529 rs1230218701 |
70 | V>L | No |
TOPMed ClinGen |
|
|
rs1298752711 CA362470515 |
71 | Y>C | No |
TOPMed ClinGen |
|
|
CA3602749 rs779066478 |
73 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1309174582 CA362470473 |
74 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
rs557171304 CA133138056 |
75 | A>V | No |
ClinGen 1000Genomes |
|
|
CA362469004 rs1183120015 |
77 | G>D | No |
ClinGen TOPMed |
|
|
CA362470432 rs1348777035 |
77 | G>S | No |
ClinGen gnomAD |
|
|
rs756617664 CA3602728 |
78 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1261650964 CA362468940 |
79 | S>F | No |
ClinGen gnomAD |
|
|
rs149901807 CA3602727 |
80 | R>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3602726 rs201373676 |
80 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 80 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA133134676 rs932650742 |
82 | E>K | No |
Ensembl ClinGen |
|
| TCGA novel | 82 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3602724 rs750058559 |
83 | I>F | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 85 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362468726 rs1296310313 |
87 | W>* | No |
gnomAD ClinGen |
|
|
rs1432419733 CA362468712 |
88 | E>Q | No |
gnomAD ClinGen |
|
|
CA362468670 rs1366953071 |
89 | W>* | No |
TOPMed gnomAD ClinGen |
|
|
rs199873978 CA133134655 |
91 | E>* | No |
ClinGen 1000Genomes |
|
|
CA362468647 rs199873978 |
91 | E>K | No |
1000Genomes ClinGen |
|
|
rs753469622 CA362468572 |
95 | L>F | No |
ExAC gnomAD ClinGen |
|
|
rs753469622 CA3602721 |
95 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA3602719 rs760706081 |
97 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs775102059 CA3602718 |
97 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1451519253 CA362468518 |
98 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1451519253 CA362468517 |
98 | L>R | No |
TOPMed gnomAD ClinGen |
|
|
CA362468483 rs1392655694 |
100 | I>M | No |
TOPMed ClinGen |
|
|
rs759291783 CA3602716 |
100 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3602714 rs375838263 |
102 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139914217 CA3602713 |
104 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362468345 rs1225572707 |
108 | T>P | No |
gnomAD ClinGen |
|
|
CA362468329 rs1308834946 |
109 | T>P | No |
gnomAD ClinGen |
|
|
rs748719652 CA3602709 |
111 | V>A | No |
ExAC gnomAD ClinGen |
|
|
rs150660671 CA3602710 COSM3012066 COSM3012067 |
111 | V>I | upper_aerodigestive_tract [Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
| rs781586750 | 116 | H>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781586750 CA362468203 |
116 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA362467198 rs1208753288 |
117 | G>* | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 117 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208753288 CA362467203 |
117 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs377448990 CA3602687 |
118 | I>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1214020653 CA362467140 |
120 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
rs780583574 CA3602685 |
122 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs923600330 CA133131593 |
122 | E>G | No |
ClinGen TOPMed |
|
|
rs1241073134 CA362467054 |
123 | N>K | No |
TOPMed gnomAD ClinGen |
|
|
rs1300633646 CA362466994 |
126 | L>P | No |
TOPMed gnomAD ClinGen |
|
|
rs1336322165 CA362467004 |
126 | L>V | No |
ClinGen gnomAD |
|
|
rs549230293 CA3602683 |
129 | Q>* | No |
ClinGen 1000Genomes ExAC |
|
|
rs777610547 CA362466930 |
129 | Q>L | No |
ExAC gnomAD ClinGen |
|
|
CA3602682 rs777610547 |
129 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs755630364 CA3602681 |
130 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs1161875010 CA362466882 |
132 | E>D | No |
gnomAD ClinGen |
|
|
CA3602678 rs373358242 COSM304392 |
132 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs373358242 CA3602679 |
132 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751306031 CA3602677 |
133 | D>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1454724370 CA362466872 |
133 | D>H | No |
gnomAD ClinGen |
|
|
CA3602676 rs766190116 |
134 | P>A | No |
ExAC gnomAD ClinGen |
|
|
rs898192019 CA133131542 |
135 | G>R | No |
ClinGen gnomAD |
|
|
CA362466734 rs1464200653 |
138 | K>R | No |
gnomAD ClinGen |
|
|
CA362466704 rs1351236637 |
140 | A>G | No |
ClinGen gnomAD |
|
|
rs991015579 CA133131541 |
141 | E>Q | No |
ClinGen TOPMed |
|
|
rs750619099 CA3602674 |
143 | K>N | No |
ExAC gnomAD ClinGen |
|
|
CA3602673 rs765498156 |
145 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1421550258 CA362466543 |
145 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
CA362466480 rs369943097 |
147 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3602672 rs376199624 |
149 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1332136276 CA362466377 |
150 | M>I | No |
ClinGen TOPMed |
|
|
CA362466409 rs1363325164 |
150 | M>V | No |
gnomAD ClinGen |
|
|
rs1402039587 CA362466157 |
158 | N>K | No |
ClinGen gnomAD |
|
|
CA362466135 rs1582100190 |
159 | Y>S | No |
ClinGen Ensembl |
|
|
CA362466121 rs1582100186 |
160 | Y>S | No |
Ensembl ClinGen |
|
|
rs1582100179 CA362466098 |
161 | S>P | No |
ClinGen Ensembl |
|
|
CA3602670 rs562121131 |
161 | S>Y | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs761110694 CA3602669 |
163 | S>G | No |
ClinGen ExAC |
|
|
CA362465988 rs1304555679 |
165 | W>G | No |
TOPMed ClinGen |
|
|
rs1037167441 CA133131499 |
168 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs775959835 CA3602668 |
168 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3602666 rs141539662 |
169 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3602665 rs141539662 |
169 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs949571771 CA133131483 |
170 | P>L | No |
gnomAD ClinGen |
|
|
CA133131481 rs369089602 |
171 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3602662 rs369089602 |
171 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs190115688 CA3602663 |
171 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362465799 rs1582100094 |
172 | Q>R | No |
Ensembl ClinGen |
|
|
rs751465557 CA3602660 |
173 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1582100073 CA362465723 |
176 | Y>S | No |
ClinGen Ensembl |
|
|
rs1281078026 CA362465714 |
177 | L>V | No |
gnomAD ClinGen |
|
|
rs750280553 CA3602657 |
178 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs761958723 CA3602655 |
179 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM4141735 COSM4141734 rs1427736315 CA362465675 |
180 | N>S | ovary [Cosmic] | No |
TOPMed ClinGen cosmic curated |
|
CA362465643 rs1228516232 |
182 | L>M | No |
ClinGen gnomAD |
|
|
rs753909737 CA3602654 |
183 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs753909737 CA362465633 |
183 | C>Y | No |
ExAC gnomAD ClinGen |
|
|
rs1582100031 CA362465620 |
184 | F>I | No |
ClinGen Ensembl |
|
|
CA133131425 rs933889650 |
186 | S>F | No |
TOPMed ClinGen |
|
|
rs776119345 CA3602651 |
186 | S>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs759975918 CA3602649 |
188 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3602647 rs769437938 |
190 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA362465436 rs1582099970 |
191 | K>E | No |
ClinGen Ensembl |
|
|
rs1197237325 CA362464885 |
194 | S>N | No |
gnomAD ClinGen |
|
|
CA3602616 rs149584609 |
195 | L>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752767154 CA3602615 |
196 | V>M | No |
ExAC gnomAD ClinGen |
|
|
CA362464855 rs1214115675 |
197 | V>G | No |
ClinGen gnomAD |
|
|
CA133130645 rs889255198 |
197 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA362464848 rs1484896459 |
198 | Q>P | No |
ClinGen TOPMed |
|
|
rs1244039638 CA362464822 |
200 | V>E | No |
TOPMed ClinGen |
|
|
CA3602612 rs150353898 |
200 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1219226843 CA362464808 |
201 | D>V | No |
ClinGen gnomAD |
|
|
rs1444213206 CA362464817 |
201 | D>Y | No |
ClinGen TOPMed |
|
|
CA3602610 rs763218146 |
202 | I>T | No |
ExAC gnomAD ClinGen |
|
|
CA3602611 rs766966276 |
202 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3602609 rs763676590 |
203 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs763676590 CA3602608 |
203 | T>R | No |
ClinGen ExAC gnomAD |
|
|
COSM129621 rs368661137 CA3602606 |
204 | R>C | upper_aerodigestive_tract [Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs750207167 CA3602605 |
204 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs543531969 CA3602602 |
206 | E>G | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
COSM1436602 COSM1436601 rs1344091863 CA362464710 |
209 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs748972028 CA3602600 |
211 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs75428178 CA3602598 |
212 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755094235 CA3602595 |
215 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA362464629 rs1582098623 |
216 | S>G | No |
ClinGen Ensembl |
|
|
CA362464605 rs1243117554 |
217 | I>F | No |
gnomAD ClinGen |
|
|
CA3602594 rs751724134 |
217 | I>T | No |
ExAC gnomAD ClinGen |
|
|
CA362464608 rs1243117554 |
217 | I>V | No |
ClinGen gnomAD |
|
|
CA3602593 rs780355087 |
218 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362464591 rs780355087 |
218 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs895726397 CA362464586 |
218 | R>H | No |
ClinGen gnomAD |
|
|
CA133130580 rs895726397 |
218 | R>P | No |
ClinGen gnomAD |
|
|
rs780355087 CA362464592 |
218 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375480608 CA3602592 |
219 | V>A | No |
ESP ExAC gnomAD ClinGen |
|
|
rs750701485 CA3602591 |
220 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs765624717 CA3602590 |
221 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362464545 rs1375913213 |
221 | T>P | No |
ClinGen TOPMed |
|
|
rs147850739 CA3602589 |
222 | R>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs752328852 CA3602588 |
222 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3602587 rs146145249 |
223 | D>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3602586 rs372431621 |
224 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1314763531 CA362464467 |
225 | E>D | No |
ClinGen gnomAD |
|
|
rs925625024 CA133130552 |
225 | E>K | No |
gnomAD ClinGen |
|
|
CA362464448 rs1435421915 |
226 | L>H | No |
ClinGen gnomAD |
|
|
CA3602584 rs139809387 |
229 | S>C | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA362464379 rs1168582106 |
230 | M>T | No |
ClinGen gnomAD |
|
|
CA3602583 rs145950699 |
230 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362464335 rs1235535792 |
233 | N>S | No |
ClinGen TOPMed |
|
|
CA3602582 rs770717841 |
234 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362464311 rs1181672064 |
235 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
COSM1436598 COSM1436597 rs769688485 CA3602579 |
236 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA362464267 rs1212325066 |
239 | K>E | No |
gnomAD ClinGen |
|
|
CA3602578 rs534548411 |
240 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
VAR_032440 rs1057078 |
240 | L>P | No |
UniProt dbSNP |
|
|
rs1201964963 CA362464233 |
241 | M>I | No |
ClinGen gnomAD |
|
|
rs1355916000 CA362464240 |
241 | M>T | No |
TOPMed ClinGen |
|
|
CA362464245 rs1173440091 |
241 | M>V | No |
TOPMed ClinGen |
|
|
CA362464194 rs1301365282 |
244 | L>S | No |
ClinGen Ensembl |
|
|
CA3602576 rs199690704 |
246 | N>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3602575 rs187578890 |
247 | L>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3602574 rs376113704 |
249 | M>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs374481597 CA3602572 |
250 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3602573 rs758788900 |
250 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs754269563 CA362464006 |
255 | S>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs767089909 CA3602568 |
256 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA133130505 rs1015981248 |
258 | F>S | No |
TOPMed ClinGen |
|
|
CA362463945 rs1472572665 |
260 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA362463883 rs1174991924 |
262 | K>E | No |
ClinGen gnomAD |
|
|
CA3602564 rs148855461 |
263 | A>D | No |
ESP ExAC gnomAD ClinGen |
|
|
CA362463861 rs1251535221 |
263 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 263 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA133130490 rs763579619 |
264 | L>R | No |
Ensembl ClinGen |
|
|
rs1233794183 CA362463813 |
265 | P>R | No |
ClinGen gnomAD |
|
|
CA362463820 rs1274866657 |
265 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
CA362463824 rs1274866657 |
265 | P>T | No |
TOPMed gnomAD ClinGen |
|
|
CA362463796 rs1239966690 |
266 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3602562 rs773269119 |
267 | P>T | No |
ClinGen ExAC |
|
| TCGA novel | 268 | I>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3602561 rs376440134 |
269 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362463738 rs1304901447 |
269 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3602560 rs376440134 |
269 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA362463731 rs1393232571 |
270 | P>S | No |
gnomAD ClinGen |
|
|
CA3602559 rs533066666 |
272 | R>G | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1582098298 CA362463674 |
273 | N>S | No |
ClinGen Ensembl |
|
|
rs768708677 CA3602558 |
274 | I>V | No |
ExAC gnomAD ClinGen |
|
|
rs1029616307 CA133130456 |
275 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA3602557 rs747283334 |
275 | S>P | No |
ExAC gnomAD ClinGen |
|
|
rs1166139723 CA362463580 |
278 | K>R | No |
gnomAD ClinGen |
|
|
CA3602556 rs775617814 |
279 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs762458678 CA3602555 |
279 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs544600861 CA3602526 |
280 | D>E | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA3602525 rs764869231 |
281 | L>M | No |
ExAC ClinGen |
|
|
rs1162098123 CA362462531 |
281 | L>P | No |
ClinGen TOPMed |
|
|
CA3602522 rs200571563 |
282 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763999012 CA3602520 |
283 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1066731 COSM1595281 CA3602518 rs145495991 |
284 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA133129644 rs1018886665 |
285 | A>G | No |
TOPMed ClinGen |
|
|
rs1376819983 CA362462437 |
285 | A>T | No |
gnomAD ClinGen |
|
| TCGA novel | 288 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362462264 rs1322825223 |
289 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs1244205733 CA362462249 |
290 | Y>H | No |
ClinGen TOPMed |
|
|
rs1582096936 CA362462243 |
290 | Y>S | No |
ClinGen Ensembl |
|
|
CA3602516 rs371645584 |
291 | R>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs371645584 CA362462223 |
291 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1371101669 CA362462214 |
291 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1371101669 CA362462207 |
291 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs759776843 CA362462143 |
293 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA3602515 rs759776843 |
293 | T>M | No |
ExAC gnomAD ClinGen |
|
|
CA3602514 rs777601642 |
294 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1256719856 CA362462105 |
294 | F>L | No |
ClinGen gnomAD |
|
|
rs201568253 CA3602513 |
295 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362462099 COSM1154441 rs1208719642 COSM1066730 |
295 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1337731564 CA362462041 |
297 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA362462035 rs1337731564 |
297 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1337731564 CA362462044 |
297 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA133129591 rs1035864791 |
298 | R>G | No |
TOPMed gnomAD ClinGen |
|
|
rs770206639 CA3602510 |
299 | D>Y | No |
ExAC gnomAD ClinGen |
|
|
rs369773708 CA3602508 |
301 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3602509 rs748486833 |
301 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1582096833 CA362461894 |
302 | L>R | No |
Ensembl ClinGen |
|
|
CA362461886 rs1582096826 |
303 | D>A | No |
ClinGen Ensembl |
|
|
CA3602507 rs557504816 |
303 | D>E | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA362461855 rs1334293972 |
304 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1414942271 CA362461795 |
306 | T>A | No |
TOPMed ClinGen |
|
|
CA3602505 rs778754397 |
306 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA362461746 rs1465939239 |
307 | S>G | No |
gnomAD ClinGen |
|
|
CA362461654 rs1476169666 |
310 | L>M | No |
gnomAD ClinGen |
|
|
CA362461630 rs1230890113 |
310 | L>P | No |
gnomAD ClinGen |
|
|
rs1476169666 CA362461639 |
310 | L>V | No |
gnomAD ClinGen |
|
|
rs1238084931 CA362461622 |
311 | W>* | No |
TOPMed gnomAD ClinGen |
|
|
rs377259389 CA3602501 |
312 | T>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs756019909 CA3602500 |
312 | T>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1196671733 CA362461554 |
313 | P>L | No |
ClinGen gnomAD |
|
|
rs1271722448 CA362461501 |
315 | N>S | No |
gnomAD ClinGen |
|
|
rs1582096711 CA362461441 |
317 | L>P | No |
ClinGen Ensembl |
|
|
rs1582096711 CA362461439 |
317 | L>R | No |
Ensembl ClinGen |
|
|
CA362461343 rs1284212369 |
320 | P>A | No |
gnomAD ClinGen |
|
|
rs762953221 CA3602494 |
321 | G>D | No |
ExAC gnomAD ClinGen |
|
|
rs772091781 CA133129480 |
322 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 323 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362461210 rs1333545613 |
323 | M>I | No |
gnomAD ClinGen |
|
|
rs748053918 CA133129479 |
324 | F>S | No |
Ensembl ClinGen |
|
|
CA3602493 rs773179113 |
325 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs770282918 CA3602492 |
327 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1229071846 CA362461041 |
328 | N>K | No |
ClinGen TOPMed |
|
|
CA3602490 rs777232858 |
333 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3602487 rs200225704 |
334 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1468664961 CA362460887 |
335 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1234734872 CA362460874 |
336 | E>V | No |
gnomAD ClinGen |
|
|
CA3602483 rs777170652 |
339 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777170652 CA362460795 |
339 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756039752 CA3602482 |
339 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3602480 rs146407889 |
342 | L>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA362460720 rs1410817599 |
342 | L>R | No |
TOPMed ClinGen |
|
|
rs754760983 CA3602479 |
343 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA362460656 rs766529720 |
345 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs766529720 CA3602477 |
345 | P>R | No |
ExAC gnomAD ClinGen |
|
|
rs751359006 CA3602478 |
345 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362460545 rs1582096555 |
347 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 348 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3602460 rs779851044 |
350 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114211551 CA3602459 |
350 | T>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs750585823 CA3602458 |
351 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3602455 rs753974407 |
352 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs757282947 CA3602456 |
352 | V>I | No |
ExAC ClinGen |
|
|
rs369943369 CA3602453 |
353 | E>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA362459223 rs1185165607 |
355 | A>P | No |
gnomAD ClinGen |
|
|
CA133127860 rs958048859 |
357 | S>T | No |
ClinGen TOPMed |
|
|
CA362459166 rs1476641723 |
358 | S>F | No |
gnomAD ClinGen |
|
|
rs1361619063 CA362459163 |
359 | S>G | No |
ClinGen TOPMed |
|
|
rs1264538981 CA362459161 |
359 | S>N | No |
ClinGen gnomAD |
|
|
rs772728242 CA3602449 |
360 | V>L | No |
ExAC gnomAD ClinGen |
|
|
CA3602450 rs772728242 |
360 | V>M | No |
ExAC gnomAD ClinGen |
|
|
CA3602448 rs769490793 |
362 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs113360976 CA3602447 |
363 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA362459030 rs1423978126 |
365 | L>P | No |
ClinGen TOPMed |
|
|
CA362459044 rs1402172065 |
365 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
rs1212606422 CA362459005 |
367 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3602443 rs746913600 |
368 | S>G | No |
ExAC gnomAD ClinGen |
|
|
CA3602442 rs140042300 |
370 | K>E | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3602441 rs771748035 |
370 | K>R | No |
ExAC gnomAD ClinGen |
|
|
rs1354177082 CA362458873 |
373 | M>V | No |
gnomAD ClinGen |
|
| TCGA novel | 374 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329898014 CA362458799 |
378 | A>T | No |
TOPMed ClinGen |
|
|
CA3602438 rs150609513 |
379 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA133127824 rs868561984 |
382 | D>N | No |
ClinGen Ensembl |
|
|
rs753924733 CA3602437 |
383 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3602436 rs568744817 |
383 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3602435 rs568744817 |
383 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 383 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3602434 rs753234968 |
385 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA133127795 rs1046634890 |
391 | S>F | No |
TOPMed ClinGen |
|
|
CA362458478 rs1248285432 |
398 | P>A | No |
ClinGen TOPMed |
|
|
rs753131211 CA133127785 |
401 | Q>* | No |
Ensembl ClinGen |
|
|
CA362458336 rs1402944667 |
403 | G>D | No |
ClinGen Ensembl |
|
|
rs1232560961 CA362458330 |
404 | S>G | No |
gnomAD ClinGen |
|
|
rs1314869303 CA362458267 |
405 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs141821788 CA3602428 |
405 | I>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3602426 rs768128568 |
406 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA3602425 rs760232760 |
408 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA133127760 rs1038311823 |
412 | V>D | No |
Ensembl ClinGen |
|
|
CA362458120 rs1424867157 |
412 | V>F | No |
TOPMed ClinGen |
|
|
rs775399946 CA3602424 |
413 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3602423 rs772053256 |
415 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406037270 CA362458027 |
416 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3602420 rs778794716 |
418 | E>K | No |
ExAC ClinGen |
|
|
CA362455736 rs1485514996 |
420 | S>F | No |
ClinGen gnomAD |
|
|
CA133124932 rs987223341 |
424 | Q>H | No |
ClinGen TOPMed |
|
|
CA133124930 rs998770595 |
425 | E>K | No |
ClinGen Ensembl |
|
|
rs770831310 CA3602400 |
427 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3602398 rs773567433 |
429 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446325598 CA362455676 |
430 | P>A | No |
ClinGen gnomAD |
|
|
rs1333173737 CA362455671 |
431 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
CA133124916 rs969016460 |
433 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 433 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755048722 CA3602394 |
435 | S>F | No |
ExAC gnomAD ClinGen |
|
|
CA362455640 rs747528277 |
436 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3602393 rs747528277 |
436 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3602392 rs780482247 |
437 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA362455631 rs1398720872 |
438 | S>R | No |
ClinGen gnomAD |
|
|
CA362455618 rs1172594007 |
439 | S>I | No |
gnomAD ClinGen |
|
|
CA3602391 rs760439963 |
440 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3602390 rs373758205 |
440 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370360941 CA3602388 |
442 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
| rs777128426 | 443 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767023275 CA3602386 |
443 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs759021604 CA3602385 |
445 | A>P | No |
ExAC gnomAD ClinGen |
|
|
rs759021604 CA362455581 |
445 | A>S | No |
ExAC gnomAD ClinGen |
|
|
rs759021604 CA133124900 |
445 | A>T | No |
ExAC gnomAD ClinGen |
|
|
CA3602384 rs774335841 |
445 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA362455577 rs1208943345 |
446 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1561639637 CA362455569 |
447 | E>Q | No |
Ensembl ClinGen |
|
|
CA362454943 rs762772283 |
448 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs762772283 CA3602382 |
448 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA362454889 rs748366380 |
450 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748366380 CA3602379 |
450 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3602376 rs747124381 |
451 | A>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs747124381 CA3602377 |
451 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1311769479 CA362454782 |
455 | L>P | No |
ClinGen gnomAD |
|
|
rs746183806 CA3602373 |
458 | L>R | No |
ExAC gnomAD ClinGen |
|
|
rs1403908275 CA362454758 |
458 | L>V | No |
ClinGen gnomAD |
|
|
rs1421291887 CA362454739 |
459 | F>C | No |
gnomAD ClinGen |
|
|
CA133124875 rs778254794 |
459 | F>L | No |
ClinGen TOPMed |
|
|
rs1035689173 CA133124872 |
460 | Q>H | No |
ClinGen TOPMed |
|
|
rs146223425 CA3602370 |
463 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757659697 CA3602371 |
463 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA362454629 rs142247693 |
464 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs142247693 CA3602367 |
464 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA133124835 rs1045686750 |
465 | M>I | No |
Ensembl ClinGen |
|
|
CA133124838 rs928916579 |
465 | M>T | No |
Ensembl ClinGen |
|
|
CA133124839 rs940265436 |
465 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766368472 CA3602366 |
467 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3602365 rs763013285 |
468 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs1481579922 CA362454534 |
469 | G>E | No |
TOPMed ClinGen |
|
|
rs773318521 CA3602364 |
470 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3602362 rs761570512 |
472 | G>A | No |
ExAC gnomAD ClinGen |
|
|
CA3602363 CA362454470 rs765098338 |
472 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA362454468 rs765098338 |
472 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs779906559 CA362481607 |
473 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1452730162 CA362481611 |
473 | A>T | No |
ClinGen gnomAD |
|
|
rs779906559 CA3602331 |
473 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA133135440 rs986009839 |
474 | K>R | No |
TOPMed gnomAD ClinGen |
|
|
rs757977063 CA3602330 |
476 | K>R | No |
ExAC gnomAD ClinGen |
|
|
rs920541798 CA133135415 |
479 | E>G | No |
ClinGen gnomAD |
|
|
CA133135425 rs931874026 |
479 | E>K | No |
gnomAD ClinGen |
|
| TCGA novel | 481 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 483 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1438472828 CA362481506 |
487 | F>L | No |
ClinGen gnomAD |
|
|
rs375542132 CA3602325 |
488 | E>K | No |
ESP ExAC ClinGen |
|
|
CA133135374 rs760568290 |
490 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA3602323 rs760568290 |
490 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA362481478 rs1362607242 |
491 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3602322 rs574734327 |
491 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA362481473 rs1423459653 |
492 | G>D | No |
ClinGen gnomAD |
|
|
rs1024882192 CA133135333 |
492 | G>R | No |
gnomAD ClinGen |
|
|
CA362481475 rs1024882192 |
492 | G>S | No |
gnomAD ClinGen |
|
|
rs138071086 CA3602320 |
493 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA362481444 rs1487005269 |
496 | Y>C | No |
TOPMed gnomAD ClinGen |
|
|
CA362481443 rs1487005269 |
496 | Y>F | No |
TOPMed gnomAD ClinGen |
|
|
rs1192211010 CA362481447 |
496 | Y>H | No |
gnomAD ClinGen |
|
|
rs763335279 CA3602317 |
497 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs779931826 CA3602316 |
497 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362481427 rs1328986577 |
499 | A>G | No |
ClinGen TOPMed |
|
|
CA133135293 rs902887842 |
499 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
COSM1595283 rs748586469 CA133135285 COSM1066728 |
501 | T>M | endometrium Variant assessed as Somatic; 5.997e-05 impact. [Cosmic, NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs748586469 CA3602314 |
501 | T>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs562935868 CA3602312 |
502 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA133135282 rs1033272011 |
502 | R>W | No |
Ensembl ClinGen |
|
|
rs367934536 CA3602311 |
503 | A>E | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs374982572 CA3602309 |
505 | V>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 512 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777824774 CA362481339 |
514 | R>P | No |
ExAC gnomAD ClinGen |
|
|
rs777824774 CA3602307 |
514 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA362481340 rs1419302814 |
514 | R>W | No |
ClinGen gnomAD |
|
|
rs150301970 CA3602305 |
515 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1264657230 CA362481337 |
515 | G>R | No |
ClinGen gnomAD |
|
|
CA3602306 rs150301970 |
515 | G>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs767672440 CA3602304 |
520 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA133135221 rs760410623 |
522 | S>C | No |
Ensembl ClinGen |
|
|
rs1379294665 CA362481273 |
523 | G>E | No |
ClinGen gnomAD |
|
|
CA133135194 rs766343754 |
523 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3602301 rs766343754 |
523 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs758339475 CA133134799 |
524 | A>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs758339475 CA3602279 |
524 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs934089149 CA133134798 |
524 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
rs1487483011 CA362481264 |
525 | W>L | No |
gnomAD ClinGen |
|
|
rs750529569 CA3602278 |
525 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA362481237 rs1222418949 CA362481238 |
528 | M>I | No |
gnomAD ClinGen |
|
|
CA362481244 rs1267230330 |
528 | M>V | No |
gnomAD ClinGen |
|
|
CA362481229 rs1213929367 |
530 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA362481221 rs1353150460 |
531 | H>Y | No |
ClinGen gnomAD |
|
|
rs765790598 CA3602277 |
532 | P>T | No |
ExAC gnomAD ClinGen |
|
|
rs754434902 CA3602275 |
533 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362481193 rs1301041153 |
535 | Y>C | No |
gnomAD ClinGen |
|
|
CA362481192 rs1301041153 |
535 | Y>F | No |
gnomAD ClinGen |
|
|
rs1385552648 CA362481186 |
536 | A>D | No |
ClinGen gnomAD |
|
|
rs1370363266 CA362481174 |
538 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
CA362481148 rs1424746441 |
542 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1285981127 CA362481139 |
543 | T>I | No |
TOPMed ClinGen |
|
|
CA3602272 rs773870849 |
544 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs762884965 CA133134750 |
545 | K>R | No |
gnomAD ClinGen |
|
| TCGA novel | 546 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184799147 CA362481103 |
549 | A>T | No |
ClinGen TOPMed |
|
|
CA362481087 rs1431311996 |
551 | E>G | No |
gnomAD ClinGen |
|
|
CA133134742 rs751632660 CA362481077 |
552 | E>D | No |
TOPMed gnomAD ClinGen |
|
|
rs762316349 CA3602270 |
553 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA362481070 rs1471886528 |
554 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3602268 rs199992645 COSM211519 |
555 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs748049880 CA3602267 |
555 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs768433157 CA3602265 |
559 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA3602264 rs140686469 |
559 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs780080413 CA3602263 |
560 | S>A | No |
ExAC gnomAD ClinGen |
|
|
CA362481021 rs1456878460 |
561 | M>I | No |
ClinGen TOPMed |
|
|
rs765403238 CA3602261 |
563 | E>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs765403238 CA3602260 |
563 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362480926 rs754385724 |
569 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362480924 rs1385241040 |
570 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA362480867 rs1445191483 |
574 | A>V | No |
TOPMed ClinGen |
|
|
CA3602257 rs764765099 |
576 | L>P | No |
ClinGen ExAC |
|
|
rs1464350251 CA362480850 |
576 | L>V | No |
ClinGen gnomAD |
|
|
CA3602254 rs753121786 |
577 | R>L | No |
ExAC gnomAD ClinGen |
|
|
rs753121786 CA133134697 |
577 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760882969 CA3602255 |
577 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765902376 CA3602253 |
578 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362480834 rs1387964616 |
578 | R>W | No |
ClinGen Ensembl |
|
|
CA362480825 CA3602252 rs762699890 |
579 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA362480802 rs1265821593 |
581 | T>A | No |
ClinGen TOPMed |
|
|
rs1488704937 CA362480793 |
582 | A>P | No |
ClinGen gnomAD |
|
|
rs1488704937 TCGA novel CA362480794 |
582 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA133134686 rs1034043531 |
583 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3602248 rs776480425 |
586 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3602247 rs201947346 |
586 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3602246 rs746732052 |
588 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1582085012 CA362480708 |
589 | T>P | No |
ClinGen Ensembl |
|
|
rs779929793 CA3602245 |
589 | T>S | No |
ExAC gnomAD ClinGen |
|
|
rs1219922403 CA362480692 |
590 | I>V | No |
gnomAD ClinGen |
|
|
rs779336983 CA3602242 |
591 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs746078692 CA3602243 |
591 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3602241 rs757410409 |
592 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1582083001 CA362480584 |
595 | A>V | No |
Ensembl ClinGen |
|
|
CA362480581 rs1178332277 |
596 | M>V | No |
gnomAD ClinGen |
|
|
CA3602220 rs778032943 |
597 | N>D | No |
ExAC gnomAD ClinGen |
|
|
CA362480561 rs781613172 |
598 | I>M | No |
ExAC gnomAD ClinGen |
|
|
CA3602218 rs374156288 |
598 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756192267 CA3602219 |
598 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs751932035 CA3602216 |
599 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs751932035 CA3602215 |
599 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA362480553 rs1349349457 |
600 | T>N | No |
TOPMed ClinGen |
|
|
COSM1228621 COSM1228620 rs1357917120 CA362480545 |
601 | S>L | pancreas large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA362480543 rs1239045613 |
602 | V>L | No |
ClinGen gnomAD |
|
|
CA362480535 rs1257877282 |
603 | L>H | No |
TOPMed ClinGen |
|
|
rs753527286 CA3602212 |
604 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 605 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362480524 rs1442754367 |
605 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs144368399 CA3602211 |
606 | Y>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3602210 rs760160468 |
607 | G>D | No |
ExAC gnomAD ClinGen |
|
|
CA362480473 rs1366314372 |
612 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
rs149984150 CA3602207 |
615 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362480452 rs1376314375 |
615 | L>P | No |
ClinGen TOPMed |
|
|
CA362480449 rs771241906 |
616 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353393258 CA362480445 |
617 | V>M | No |
ClinGen TOPMed |
|
|
rs748177148 CA3602201 |
621 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781678500 CA3602200 |
622 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3602198 rs747331720 |
622 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3602199 rs747331720 |
622 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs781678500 CA362480412 |
622 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224118192 CA362480406 |
623 | M>T | No |
gnomAD ClinGen |
|
|
rs1287822517 CA362480409 |
623 | M>V | No |
ClinGen gnomAD |
|
|
CA3602194 rs777356719 |
626 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs755584290 CA3602193 |
628 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1277730262 CA362480367 |
629 | N>D | No |
ClinGen TOPMed |
|
|
rs752164460 CA362480356 |
630 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs752164460 CA3602192 |
630 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362480354 rs1319292430 |
631 | R>K | No |
ClinGen gnomAD |
|
|
rs530830753 CA3602190 |
631 | R>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs767442186 CA3602191 |
631 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA362480069 rs1453831870 |
634 | G>E | No |
ClinGen gnomAD |
|
|
CA3602187 rs766258527 |
634 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3602166 rs761907545 |
635 | A>S | No |
ExAC gnomAD ClinGen |
|
|
CA362480006 rs370774290 |
639 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3602165 rs370774290 |
639 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA362480005 rs1467663310 |
639 | Q>R | No |
gnomAD ClinGen |
|
|
rs768709430 CA3602164 |
641 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3602162 COSM3827851 rs775909263 COSM3827852 |
643 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3602161 rs772582231 |
644 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1411158781 CA362479943 |
644 | E>K | No |
gnomAD ClinGen |
|
|
CA133132924 COSM1228623 rs911263386 COSM1228622 |
646 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
| TCGA novel | 647 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362479881 rs1582082063 |
648 | D>A | No |
ClinGen Ensembl |
|
|
rs1582082057 CA362479869 |
649 | F>S | No |
Ensembl ClinGen |
|
|
CA133132910 rs111539497 |
650 | L>P | No |
ClinGen Ensembl |
|
|
CA133132918 rs111539497 |
650 | L>Q | No |
Ensembl ClinGen |
|
|
CA362479847 rs1247176784 |
651 | P>L | No |
ClinGen gnomAD |
|
|
CA362479848 rs1247176784 |
651 | P>R | No |
ClinGen gnomAD |
|
|
CA362479843 rs1320066264 |
652 | Q>* | No |
ClinGen gnomAD |
|
|
rs143091649 CA3602156 |
652 | Q>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3602154 rs746527913 |
654 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750412119 CA3602151 |
655 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3602152 rs758439331 |
655 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1026748922 CA133132879 |
656 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA362479779 rs1326029817 |
657 | M>V | No |
ClinGen TOPMed |
|
|
CA362479759 rs1379076350 |
658 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA133132878 rs61748813 |
658 | Q>H | No |
ClinGen Ensembl |
|
|
rs764917081 CA3602150 |
659 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs993972752 CA133132875 |
662 | V>M | No |
ClinGen Ensembl |
|
|
rs764304650 CA3602147 |
665 | S>G | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 665 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379384418 CA362479679 |
666 | I>V | No |
ClinGen gnomAD |
|
|
rs1156632138 CA362479664 |
667 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1251150769 CA362479662 |
668 | L>M | No |
gnomAD ClinGen |
|
|
CA3602145 rs775569768 |
674 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs775569768 CA362479581 |
674 | L>V | No |
ExAC gnomAD ClinGen |
|
|
CA133132868 rs905517567 COSM175893 |
676 | L>F | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
Ensembl ClinGen cosmic curated NCI-TCGA |
|
rs1582081897 CA362479519 |
678 | V>A | No |
ClinGen Ensembl |
|
|
rs200585012 CA3602143 |
678 | V>F | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs200585012 CA3602142 |
678 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs138854983 CA3602141 |
679 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362479511 rs1284559760 |
679 | M>V | No |
ClinGen TOPMed |
|
|
CA362479492 rs1284248913 |
680 | P>S | No |
ClinGen gnomAD |
|
|
CA3602139 rs776359865 |
682 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA362479448 rs1475731037 |
683 | S>G | No |
TOPMed ClinGen |
|
|
CA3602138 rs188882073 |
684 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1304439065 CA362479423 |
685 | V>M | No |
gnomAD ClinGen |
|
|
CA133132818 rs868239609 |
686 | V>F | No |
Ensembl ClinGen |
|
|
rs147197593 CA3602134 |
687 | I>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs756933859 CA3602132 |
688 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133132802 rs764853309 |
689 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1315002570 CA362479381 |
689 | D>V | No |
TOPMed ClinGen |
|
|
rs1041693052 CA133132798 |
690 | C>W | No |
Ensembl ClinGen |
|
|
rs143590140 CA3602129 |
692 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 692 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3602128 rs201063581 |
693 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362479329 rs1561636782 |
694 | E>* | No |
ClinGen Ensembl |
|
|
rs1561636779 CA362479327 |
694 | E>V | No |
Ensembl ClinGen |
|
|
CA362479308 rs1338587332 |
695 | G>D | No |
TOPMed ClinGen |
|
|
rs767565829 CA3602127 |
697 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs759722234 CA3602126 |
701 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759722234 CA362479240 |
701 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3602125 rs774720027 |
702 | V>E | No |
ExAC gnomAD ClinGen |
|
|
CA362479220 rs774720027 |
702 | V>G | No |
ExAC gnomAD ClinGen |
|
|
CA3602122 rs10037618 |
706 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs10037618 CA3602121 VAR_032441 |
706 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3602120 rs746636235 |
708 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA3602118 rs375530962 |
709 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1339330999 CA362479157 |
710 | N>D | No |
gnomAD ClinGen |
|
| TCGA novel | 710 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA133132762 rs900536066 |
711 | M>V | No |
ClinGen TOPMed |
|
|
CA362479107 rs1240640495 |
713 | Q>E | No |
ClinGen gnomAD |
|
|
CA3602115 rs770922978 |
717 | C>R | No |
ExAC gnomAD ClinGen |
|
|
CA3602114 rs749043245 |
718 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3602113 rs192488842 |
718 | S>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs752905383 CA3602111 |
719 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133132739 rs371596791 |
720 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs751677100 CA3602108 |
721 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs763482090 CA3602106 |
722 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs1175774765 CA362478976 |
723 | A>T | No |
ClinGen TOPMed |
|
|
CA3602104 rs765680556 |
725 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 725 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3602101 rs371821470 |
726 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3602102 rs374644434 |
726 | M>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs773944664 CA3602099 |
728 | G>S | No |
ExAC gnomAD ClinGen |
|
|
CA362478764 rs1288621808 |
730 | Y>* | No |
ClinGen TOPMed |
|
|
CA133131894 rs564767635 |
730 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1582080028 CA362478774 |
730 | Y>H | No |
Ensembl ClinGen |
|
|
rs769845595 CA362478709 |
735 | V>F | No |
TOPMed gnomAD ClinGen |
|
|
rs769845595 CA133131891 |
735 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA362478703 rs1219190573 |
736 | N>H | No |
TOPMed ClinGen |
|
|
rs1368358213 CA362478693 |
737 | K>Q | No |
ClinGen Ensembl |
|
|
CA3602080 rs762520199 |
740 | V>I | No |
ExAC gnomAD ClinGen |
|
|
rs1235095561 CA362478660 |
741 | S>F | No |
gnomAD ClinGen |
|
|
rs1235095561 CA362478661 |
741 | S>Y | No |
ClinGen gnomAD |
|
|
rs1183211611 CA362478651 |
743 | P>S | No |
ClinGen gnomAD |
|
|
CA3602078 rs574944861 |
745 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA362478636 rs574944861 |
745 | P>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1264325944 CA362478638 |
745 | P>S | No |
ClinGen TOPMed |
|
|
CA362478629 rs1490739380 |
746 | H>Q | No |
ClinGen gnomAD |
|
|
CA3602076 rs747893935 |
748 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1642703 COSM1642704 CA3602075 rs776452101 |
748 | R>H | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA362478620 rs747893935 |
748 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1383567819 CA362478615 |
749 | A>D | No |
ClinGen TOPMed |
|
|
CA3602074 rs768381580 |
749 | A>T | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 749 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3602073 rs747238452 |
750 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA362478600 rs1239713699 |
752 | S>G | No |
gnomAD ClinGen |
|
|
rs780205844 CA3602072 |
753 | S>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs758484327 CA362478580 |
754 | S>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs745957333 CA3602070 |
755 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1470124059 CA362478574 |
755 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA133131867 rs1030400143 |
757 | P>A | No |
ClinGen TOPMed |
|
|
rs1297887833 CA362478560 |
757 | P>H | No |
ClinGen gnomAD |
|
|
CA3602069 rs779513474 |
758 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA362478540 rs1478005240 |
760 | E>D | No |
ClinGen gnomAD |
|
|
rs1159602879 CA362478546 |
760 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1159602879 CA362478547 |
760 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs754344153 CA3602067 |
762 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1021806150 CA133131835 |
763 | I>V | No |
TOPMed ClinGen |
|
|
rs751222674 CA3602064 |
764 | F>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3602061 rs762395645 |
771 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA3602035 rs567057392 |
774 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3602034 rs781430428 |
775 | S>R | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 776 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148836971 CA3602033 |
776 | S>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3602031 rs778326824 |
779 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs748511066 CA3602029 |
780 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781492208 CA3602028 |
786 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200596277 CA133131695 |
786 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA362478138 rs1232316977 |
788 | K>R | No |
gnomAD ClinGen |
|
|
CA362478121 rs1202508485 |
789 | Q>L | No |
ClinGen gnomAD |
|
|
CA133131681 rs144708947 |
790 | R>K | No |
ESP gnomAD ClinGen |
|
|
CA362478111 rs144708947 |
790 | R>T | No |
ESP gnomAD ClinGen |
|
|
CA133131667 rs750014192 |
791 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs372376890 CA3602025 |
792 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3602023 rs140882918 |
794 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756781087 CA3602024 |
794 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1376797211 CA362478007 |
797 | L>V | No |
ClinGen gnomAD |
|
|
CA362477968 rs1478355112 |
799 | D>V | No |
ClinGen TOPMed |
|
|
rs760489785 CA362477953 |
800 | T>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs760489785 CA3602021 |
800 | T>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1423637544 CA362477882 |
805 | V>A | No |
gnomAD ClinGen |
|
|
rs942089263 CA133130856 |
807 | R>G | No |
ClinGen Ensembl |
|
|
CA3601991 rs145113784 |
807 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1582078251 CA362477683 |
808 | A>V | No |
ClinGen Ensembl |
|
|
rs777112854 CA3601990 |
810 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769202345 CA3601988 |
813 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133130832 rs199743968 |
816 | S>P | No |
ClinGen gnomAD |
|
|
CA362477600 rs199743968 |
816 | S>T | No |
ClinGen gnomAD |
|
|
rs1460650771 CA362477591 |
817 | I>V | No |
TOPMed ClinGen |
|
|
CA362477540 rs1561634841 |
819 | E>D | No |
ClinGen Ensembl |
|
|
rs11545788 CA3601987 |
819 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs775677343 CA3601986 |
821 | E>D | No |
ExAC gnomAD ClinGen |
|
|
CA3601985 rs772508518 |
824 | Y>H | No |
ExAC gnomAD ClinGen |
|
|
rs748833395 CA3601983 |
825 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs372854105 CA3601981 |
826 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3601982 rs372854105 |
826 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1022090797 CA133129046 |
829 | A>D | No |
ClinGen Ensembl |
|
|
rs1366535829 CA362476971 |
830 | K>Q | No |
TOPMed ClinGen |
|
|
rs753139399 CA3601949 |
830 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA362476962 rs768125776 |
831 | H>P | No |
ExAC gnomAD ClinGen |
|
|
CA3601948 rs768125776 |
831 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1430651877 CA362476963 |
831 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3601945 rs546634706 |
835 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362476935 rs1343260869 |
835 | Q>R | No |
ClinGen TOPMed |
|
|
CA362476912 rs761505365 |
838 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs761505365 CA3601944 |
838 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA362476904 rs776433188 |
839 | C>* | No |
ExAC gnomAD ClinGen |
|
|
rs6896808 CA3601942 |
841 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362476883 rs1290650396 |
841 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA362476850 rs1361376290 |
843 | M>I | No |
ClinGen gnomAD |
|
|
rs746591840 CA3601941 |
843 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148516399 CA3601939 |
845 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745825227 CA3601938 |
846 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs529462709 CA3601937 |
846 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 846 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757057011 CA3601936 |
847 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs1365185051 CA362476825 |
847 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA362476819 rs1426925486 |
848 | D>A | No |
gnomAD ClinGen |
|
|
CA362476818 rs1426925486 |
848 | D>G | No |
gnomAD ClinGen |
|
|
rs1158460863 CA362476806 |
850 | S>G | No |
ClinGen gnomAD |
|
|
CA133128991 rs909623992 |
851 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs909623992 CA133128988 |
851 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
rs753993752 CA3601935 |
855 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs756134732 CA3601933 |
858 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3601934 rs144588026 |
858 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3601932 rs752868244 |
859 | I>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3601931 rs767878657 |
859 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs752868244 CA362476728 |
859 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362476711 rs1365437990 |
860 | D>A | No |
TOPMed ClinGen |
|
|
CA3601930 rs760046905 |
860 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1204420711 CA362476698 |
861 | A>G | No |
ClinGen gnomAD |
|
|
rs200360783 CA3601928 |
861 | A>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs200360783 CA3601929 |
861 | A>T | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs776414875 CA3601926 |
862 | S>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs768474678 CA133128947 |
862 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776414875 CA3601927 |
862 | S>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs768474678 CA3601925 |
862 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760076601 CA3601924 |
863 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
rs771506816 CA3601922 |
865 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs775027882 CA3601923 |
865 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1229327129 CA362476612 |
868 | F>S | No |
ClinGen TOPMed |
|
|
CA362476605 rs1449885614 |
869 | A>T | No |
ClinGen TOPMed |
|
|
rs1248922401 CA362476574 |
871 | L>V | No |
TOPMed ClinGen |
|
|
CA362476565 rs1200019119 |
872 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3601921 rs745761923 |
873 | P>A | No |
ExAC gnomAD ClinGen |
|
|
rs1331970658 CA362476542 |
874 | W>* | No |
ClinGen gnomAD |
|
|
CA362476517 rs1318084783 |
876 | C>Y | No |
gnomAD ClinGen |
|
|
CA3601919 rs770707214 |
878 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749138539 CA3601918 |
882 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3827849 CA3601916 rs756398026 COSM3827850 |
886 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1196788168 COSM1436591 CA362476409 COSM1436592 |
886 | R>H | large_intestine [Cosmic] | No |
gnomAD ClinGen cosmic curated |
|
CA362476406 rs1196788168 |
886 | R>L | No |
gnomAD ClinGen |
|
|
CA362476392 rs1246984574 |
887 | M>I | No |
ClinGen gnomAD |
|
|
CA133128891 rs1019415798 |
887 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 888 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362476378 rs1192198144 |
889 | R>G | No |
ClinGen gnomAD |
|
|
rs781282105 CA3601914 |
891 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3601913 rs114919910 |
892 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1450886180 CA362476351 |
893 | E>G | No |
ClinGen gnomAD |
|
|
CA3601911 rs762340501 |
893 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3601909 rs750859598 |
894 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA3601908 rs765731387 |
895 | K>E | No |
ExAC gnomAD ClinGen |
|
|
COSM1543538 rs148980801 COSM1543539 CA3601907 |
896 | D>E | lung [Cosmic] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA362476318 rs969467317 |
896 | D>H | No |
gnomAD ClinGen |
|
|
rs969467317 CA133128857 |
896 | D>Y | No |
ClinGen gnomAD |
|
|
CA3601906 rs775020533 |
897 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA362476288 rs1452587604 |
898 | L>P | No |
ClinGen gnomAD |
|
|
CA362476269 rs1404633379 |
900 | N>D | No |
ClinGen gnomAD |
|
|
CA3601903 rs774257587 |
900 | N>I | No |
ExAC gnomAD ClinGen |
|
|
rs1415749388 CA362476237 |
902 | K>T | No |
gnomAD ClinGen |
|
|
CA3601902 rs72813746 |
904 | F>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA362476213 rs1354823407 |
904 | F>L | No |
ClinGen TOPMed |
|
|
CA133128834 rs998031088 |
905 | V>A | No |
ClinGen Ensembl |
|
|
rs769495661 CA3601900 |
905 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3601899 rs769495661 |
905 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206984710 CA362476177 |
907 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 907 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1039304991 CA133128818 |
908 | M>I | No |
ClinGen gnomAD |
|
|
CA3601895 rs747139223 |
908 | M>L | No |
ExAC gnomAD ClinGen |
|
|
CA362476089 rs1208901649 |
909 | S>I | No |
TOPMed ClinGen |
|
|
rs74520199 CA3601876 |
910 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780236191 CA3601877 |
910 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3601875 rs746313268 |
911 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA362476065 rs1183930581 |
911 | M>R | No |
TOPMed ClinGen |
|
|
rs1257543287 CA362476053 |
912 | Y>C | No |
ClinGen TOPMed |
|
|
rs1175553209 CA362476026 |
914 | G>E | No |
gnomAD ClinGen |
|
|
rs757628698 CA3601873 |
914 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA3601872 rs754203354 |
915 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs754583071 CA3601870 |
917 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA362475986 rs1414185372 |
918 | E>K | No |
ClinGen TOPMed |
|
|
CA362475968 rs564012229 |
919 | K>* | No |
ClinGen gnomAD |
|
|
rs564012229 CA133128568 |
919 | K>E | No |
gnomAD ClinGen |
|
|
rs564012229 CA362475971 |
919 | K>Q | No |
ClinGen gnomAD |
|
|
rs765814771 CA3601868 |
921 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA362475930 rs1282846217 |
922 | V>M | No |
gnomAD ClinGen |
|
|
CA362475920 rs1226002450 |
923 | L>F | No |
gnomAD ClinGen |
|
|
CA808340658 rs1451422377 |
924 | Y>* | No |
ClinGen TOPMed |
|
|
CA362475907 rs1351848256 |
924 | Y>C | No |
ClinGen gnomAD |
|
|
CA3601865 rs765140203 |
925 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395321886 CA362475879 |
926 | L>Q | No |
TOPMed ClinGen |
|
|
rs1423785342 CA362475860 |
928 | L>F | No |
gnomAD ClinGen |
|
|
rs776252024 CA3601863 |
928 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs142317481 CA3601862 |
930 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1318206953 CA362475241 |
933 | S>G | No |
gnomAD ClinGen |
|
|
CA362475239 rs1175135980 |
933 | S>I | No |
ClinGen gnomAD |
|
|
CA133127509 rs1050223213 |
934 | P>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA133127514 rs999110823 COSM1267487 COSM1267486 |
934 | P>S | oesophagus [Cosmic] | No |
TOPMed ClinGen cosmic curated |
|
rs1423991941 CA362475203 |
938 | E>D | No |
ClinGen gnomAD |
|
|
rs372426915 CA3601807 |
938 | E>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs561596871 CA133127503 |
939 | S>L | No |
1000Genomes gnomAD ClinGen |
|
|
CA362475196 rs1374457356 |
940 | A>T | No |
gnomAD ClinGen |
|
| TCGA novel | 943 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362475172 rs1478864000 |
943 | A>V | No |
ClinGen gnomAD |
|
|
rs752701627 CA3601805 |
944 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA3601804 rs767362267 |
945 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs754805494 CA3601803 |
946 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA362475148 rs1582074212 |
947 | F>S | No |
Ensembl ClinGen |
|
|
rs141077968 CA3601802 |
948 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3601801 rs756699444 |
949 | E>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3601800 rs762917377 |
950 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362475106 rs1346076700 |
953 | S>L | No |
gnomAD ClinGen |
|
|
rs1582074189 CA362475105 |
954 | E>* | No |
Ensembl ClinGen |
|
| rs760202240 | 958 | L>S | No |
ExAC gnomAD |
|
|
rs765026865 CA3601753 |
958 | L>V | No |
ExAC gnomAD ClinGen |
|
| rs771788632 | 959 | A>* | No | Ensembl | |
|
CA3601751 rs374973998 |
961 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362475052 rs374973998 |
961 | D>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA133127227 rs447727 |
962 | L>M | No |
Ensembl ClinGen |
|
|
CA133127236 rs447727 |
962 | L>V | No |
Ensembl ClinGen |
|
| rs752109318 | 964 | L>E | No |
ExAC gnomAD |
|
|
rs150112354 CA3601750 |
964 | L>H | No |
1000Genomes ExAC gnomAD ClinGen |
|
| rs759413009 | 966 | L>R | No |
ExAC gnomAD |
|
|
CA362475020 rs1166121270 |
966 | L>V | No |
TOPMed ClinGen |
|
|
CA362475001 rs1261825206 |
969 | E>K | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 970 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200195260 CA3601748 |
971 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200195260 CA362474986 |
971 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs1170591605 | 971 | Q>E | No |
TOPMed gnomAD |
|
| rs1401130664 | 971 | Q>R | No | gnomAD | |
| rs112874568 | 972 | E>G | No | Ensembl | |
|
rs879622241 CA133126661 |
973 | A>G | No |
Ensembl ClinGen |
|
| rs201649667 | 974 | L>E | No | Ensembl | |
|
CA133126658 rs773073887 |
974 | L>P | No |
gnomAD ClinGen |
|
|
CA3601712 rs760202240 |
975 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs780679842 | 975 | P>V | No |
ExAC gnomAD |
|
|
CA133126651 rs771788632 |
976 | Q>* | No |
ClinGen Ensembl |
|
| rs1307170511 | 976 | Q>N | No | gnomAD | |
| rs772419777 | 977 | E>R | No |
ExAC TOPMed gnomAD |
|
| rs1180617681 | 978 | E>F | No | TOPMed | |
| TCGA novel | 978 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs112342892 | 981 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
|
CA3601711 rs752109318 |
981 | G>E | No |
ClinGen ExAC gnomAD |
|
| rs112342892 | 981 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs150489902 | 982 | S>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs754461829 | 983 | G>L | No |
ExAC gnomAD |
|
| rs754461829 | 983 | G>P | No |
ExAC gnomAD |
|
|
rs759413009 CA3601710 CA3601709 |
983 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 985 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751109703 | 986 | E>* | No |
ExAC gnomAD |
|
| rs200057303 | 986 | E>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200057303 | 986 | E>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs79293303 | 987 | R>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362474497 rs1170591605 |
988 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA362474509 rs1401130664 |
988 | G>R | No |
ClinGen gnomAD |
|
|
rs112874568 CA133126389 |
989 | E>G | No |
ClinGen Ensembl |
|
| rs1450479785 | 989 | E>T | No | gnomAD | |
| rs750385482 | 990 | E>Q | No |
ExAC gnomAD |
|
| rs764871955 | 991 | K>D | No |
ExAC TOPMed gnomAD |
|
|
CA133126384 rs201649667 |
991 | K>E | No |
ClinGen Ensembl |
|
| rs759918639 | 992 | G>E | No | Ensembl | |
|
rs780679842 CA3601680 |
992 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1307170511 CA362474293 |
993 | T>N | No |
ClinGen gnomAD |
|
|
CA362474282 rs1582071426 |
994 | S>C | No |
ClinGen Ensembl |
|
|
rs772419777 CA3601679 |
994 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs761760972 | 995 | S>* | No |
ExAC gnomAD |
|
|
CA362474257 rs1180617681 |
995 | S>F | No |
ClinGen TOPMed |
|
|
COSM420749 CA362474243 rs1356180868 COSM1133735 |
996 | P>L | urinary_tract [Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated |
| rs201069565 | 997 | D>D | No |
ExAC gnomAD |
|
| rs1298614639 | 998 | Y>A | No | gnomAD | |
|
rs112342892 CA3601676 |
998 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs112342892 CA362474213 |
998 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3601674 rs780879504 |
999 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3601675 rs150489902 |
999 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362474185 rs754461829 |
1000 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA3601673 rs754461829 |
1000 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1561631380 CA362474183 |
1000 | H>Q | No |
ClinGen Ensembl |
|
| rs199868094 | 1001 | Y>N | No |
TOPMed gnomAD |
|
|
rs751109703 COSM1066722 CA3601670 COSM1595288 |
1003 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs200057303 CA362474121 |
1003 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200057303 CA3601669 |
1003 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs772208263 | 1003 | R>S | No |
ExAC gnomAD |
|
| rs772208263 | 1003 | R>T | No |
ExAC gnomAD |
|
|
rs79293303 CA3601668 |
1004 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1450479785 CA362474080 |
1006 | A>T | No |
ClinGen gnomAD |
|
|
rs750385482 CA3601667 |
1007 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs764871955 CA3601666 |
1008 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs201051546 | 1008 | E>K | No |
ExAC TOPMed gnomAD |
|
|
rs759918639 CA133126342 |
1009 | K>E | No |
ClinGen Ensembl |
|
|
rs761760972 CA3601665 |
1012 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1013 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3601663 rs201069565 |
1014 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1298614639 CA362473968 |
1015 | T>A | No |
ClinGen gnomAD |
|
|
rs561194613 CA3601662 |
1015 | T>K | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs561194613 COSM1672184 COSM1672183 CA3601661 |
1015 | T>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated |
| rs773516159 | 1016 | I>M | No |
ExAC gnomAD |
|
|
rs1056764972 CA133126335 |
1017 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1018 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362473929 rs1462071128 |
1018 | D>G | No |
gnomAD ClinGen |
|
|
rs199868094 CA133126333 |
1018 | D>N | No |
ClinGen TOPMed gnomAD |
|
| rs1561630641 | 1019 | L>K | No | Ensembl | |
|
rs772208263 CA3601660 |
1020 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA362473917 rs772208263 |
1020 | P>T | No |
ClinGen ExAC gnomAD |
|
| rs994995442 | 1022 | M>T | No | Ensembl | |
| rs1582070175 | 1024 | Q>A | No | Ensembl | |
|
rs201051546 CA3601640 |
1025 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs375851946 | 1025 | E>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs371420876 | 1028 | I>R | No |
ESP ExAC TOPMed gnomAD |
|
|
rs1209142187 CA362473130 |
1028 | I>T | No |
gnomAD ClinGen |
|
| rs753844953 | 1029 | E>N | No |
ExAC gnomAD |
|
| rs201894738 | 1030 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
|
CA362473096 rs1354081526 |
1031 | C>G | No |
ClinGen TOPMed |
|
| rs1582070129 | 1031 | C>S | No | Ensembl | |
| rs182237308 | 1032 | K>D | No |
1000Genomes ExAC gnomAD |
|
|
rs1206610304 CA362473087 |
1032 | K>E | No |
ClinGen TOPMed |
|
|
rs773516159 CA3601637 |
1033 | T>M | No |
ClinGen ExAC gnomAD |
|
| rs759500259 | 1033 | T>T | No |
ExAC TOPMed gnomAD |
|
| rs1341328013 | 1034 | L>T | No | gnomAD | |
|
rs1561630641 CA362472990 |
1036 | N>K | No |
ClinGen Ensembl |
|
| rs773712275 | 1037 | M>M | No |
ExAC gnomAD |
|
| rs903648742 | 1038 | F>V | No | TOPMed | |
|
CA3601634 rs147946905 |
1039 | S>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs994995442 CA133125866 |
1039 | S>T | No |
ClinGen Ensembl |
|
|
rs779821200 CA3601633 |
1040 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1040 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1582070175 CA362472890 |
1041 | D>A | No |
ClinGen Ensembl |
|
|
CA3601632 rs771462049 |
1041 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3601631 rs375851946 |
1042 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs948105857 | 1043 | M>H | No |
TOPMed gnomAD |
|
|
rs1174753054 CA362472823 |
1044 | E>* | No |
gnomAD ClinGen |
|
|
rs778318050 CA3601630 |
1045 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs552871928 | 1045 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs371420876 CA3601629 |
1045 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1046 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753844953 CA3601628 |
1046 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA362472786 rs753844953 |
1046 | D>N | No |
ClinGen ExAC gnomAD |
|
| rs774975732 | 1047 | L>L | No |
ExAC TOPMed gnomAD |
|
|
rs201894738 COSM1162815 CA3601627 COSM1162816 |
1047 | L>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA362472764 rs1582070129 |
1048 | Y>S | No |
ClinGen Ensembl |
|
|
CA3601625 rs182237308 |
1049 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1436590 COSM1436589 rs759500259 CA3601623 |
1050 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA362472725 rs1341328013 |
1051 | I>T | No |
ClinGen gnomAD |
|
|
rs199637229 CA3601620 |
1052 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs773712275 CA3601619 |
1054 | V>M | No |
ClinGen ExAC gnomAD |
|
| rs1253671054 | 1055 | A>K | No | TOPMed | |
|
CA133125821 rs903648742 |
1055 | A>V | No |
ClinGen TOPMed |
|
|
CA133125818 rs200438741 |
1060 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA133125815 rs948105857 |
1060 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| rs1337185747 | 1061 | I>N | No | gnomAD | |
|
rs1313867299 CA362472637 |
1061 | I>V | No |
gnomAD ClinGen |
|
|
CA3601617 rs552871928 |
1062 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1063 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3601615 rs771716008 |
1064 | V>G | No |
ExAC gnomAD ClinGen |
|
|
CA3601616 rs774975732 |
1064 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362472598 rs774975732 |
1064 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362472584 rs1163654306 |
1066 | K>* | No |
ClinGen gnomAD |
|
| rs541008254 | 1066 | K>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs372299714 | 1068 | F>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs537504596 | 1070 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA3601612 rs144624491 |
1071 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1436588 rs185070653 COSM1436587 CA3601611 |
1071 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA362472539 rs1253671054 |
1072 | T>K | No |
ClinGen TOPMed |
|
| rs147706585 | 1073 | G>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1396157907 | 1074 | R>M | No | gnomAD | |
| rs768916841 | 1074 | R>P | No |
ExAC TOPMed gnomAD |
|
|
rs777917427 CA3601609 |
1076 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1337185747 CA362472505 |
1078 | D>N | No |
ClinGen gnomAD |
|
| rs1324124077 | 1078 | D>V | No | TOPMed | |
| rs1481316837 | 1081 | T>K | No | TOPMed | |
|
CA362472466 rs1582069971 |
1083 | E>G | No |
Ensembl ClinGen |
|
|
rs541008254 CA3601607 |
1083 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751743000 CA3601603 |
1085 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3601604 rs372299714 |
1085 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs748054344 | 1086 | P>G | No |
ExAC gnomAD |
|
| VAR_036196 | 1086 | P>Q | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs537504596 CA3601601 |
1087 | P>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA362472442 rs537504596 |
1087 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs61735498 | 1087 | P>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1582069856 | 1089 | P>A | No | Ensembl | |
|
rs147706585 CA3601597 |
1090 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3601598 rs147706585 |
1090 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362472419 rs1396157907 |
1091 | L>M | No |
ClinGen gnomAD |
|
|
CA3601596 rs768916841 |
1091 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1372543241 | 1092 | H>T | No | gnomAD | |
| rs149290693 | 1094 | D>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs113335971 CA3601593 |
1095 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA362472387 rs1324124077 |
1095 | A>V | No |
ClinGen TOPMed |
|
|
CA362472385 rs1419598787 |
1096 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA362472386 rs1419598787 |
1096 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
rs770555107 CA3601592 |
1096 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1481316837 CA362472374 |
1098 | E>K | No |
ClinGen TOPMed |
|
| rs766172495 | 1101 | P>E | No |
ExAC TOPMed gnomAD |
|
|
rs1026731315 CA133125755 |
1101 | P>L | No |
ClinGen Ensembl |
|
| rs774127324 | 1101 | P>R | No |
ExAC TOPMed gnomAD |
|
|
rs748854154 CA3601591 |
1101 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs769197080 | 1103 | A>D | No |
ExAC gnomAD |
|
|
CA3601588 rs748054344 |
1103 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs769727219 CA3601589 |
1103 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs1348917384 CA362472338 |
1104 | A>T | No |
gnomAD ClinGen |
|
|
CA3601587 rs61735498 |
1104 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1582069856 CA362472323 |
1106 | D>A | No |
ClinGen Ensembl |
|
|
CA362472321 rs1331006213 |
1106 | D>E | No |
gnomAD ClinGen |
|
|
CA3601585 rs368237049 |
1107 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1303498683 | 1107 | P>T | No | gnomAD | |
| rs768483268 | 1108 | Q>E | No |
ExAC TOPMed gnomAD |
|
|
CA362472314 rs1582069845 |
1108 | Q>K | No |
ClinGen Ensembl |
|
| rs1023877851 | 1109 | A>A | No | TOPMed | |
|
rs1372543241 CA362472305 |
1109 | A>T | No |
ClinGen gnomAD |
|
| rs758572683 | 1111 | A>G | No |
ExAC TOPMed gnomAD |
|
|
CA3601582 rs149290693 |
1111 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1382417658 CA362472290 |
1111 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1160055298 CA362472284 |
1112 | G>D | No |
gnomAD ClinGen |
|
| rs142401945 | 1113 | G>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375672084 CA3601580 |
1113 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs142401945 | 1113 | G>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs146018049 | 1113 | G>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs754360253 | 1114 | D>S | No |
ExAC gnomAD |
|
| rs1167381787 | 1114 | D>V | No | gnomAD | |
| rs137877957 | 1116 | H>C | No |
ESP ExAC TOPMed gnomAD |
|
|
rs754309643 CA3601579 |
1116 | H>R | No |
ExAC gnomAD ClinGen |
|
|
CA3601575 rs766172495 |
1118 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3601577 rs774127324 CA3601576 |
1118 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1350265879 | 1119 | K>* | No | TOPMed | |
| rs761286268 | 1119 | K>H | No |
ExAC gnomAD |
|
|
CA362472242 rs30386 |
1119 | K>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs148212311 | 1119 | K>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3601573 rs30386 VAR_032442 |
1119 | K>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3601572 rs769197080 |
1120 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA362472236 rs1386160676 |
1120 | A>P | No |
TOPMed ClinGen |
|
|
CA362472220 rs1278731685 |
1121 | P>L | No |
gnomAD ClinGen |
|
| rs577443409 | 1122 | Q>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA3601571 rs372091880 |
1122 | Q>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3601570 rs368069686 |
1123 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1123 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1296275529 | 1124 | S>H | No | TOPMed | |
| rs559207451 | 1124 | S>R | No |
1000Genomes ExAC |
|
|
rs1303498683 CA362472186 |
1124 | S>T | No |
ClinGen gnomAD |
|
|
rs768483268 CA3601569 |
1125 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324299284 CA362472170 |
1125 | Q>H | No |
ClinGen gnomAD |
|
|
CA133125692 rs1023877851 |
1126 | V>A | No |
ClinGen TOPMed |
|
|
CA3601568 rs779857266 |
1126 | V>L | No |
ExAC gnomAD ClinGen |
|
|
CA3601567 rs779857266 |
1126 | V>M | No |
ClinGen ExAC gnomAD |
|
| rs540973351 | 1127 | V>P | No |
1000Genomes ExAC gnomAD |
|
|
CA3601566 rs758572683 |
1128 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362472152 rs1382538188 |
1128 | V>M | No |
gnomAD ClinGen |
|
|
rs765399441 CA3601564 |
1129 | E>D | No |
TOPMed ClinGen |
|
|
CA3601561 rs142401945 |
1130 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362472124 rs142401945 |
1130 | G>E | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs146018049 CA362472129 CA362472127 |
1130 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs142401945 CA3601562 |
1130 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3601563 rs146018049 |
1130 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3601560 rs754360253 |
1131 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1167381787 CA362472112 |
1131 | G>V | No |
ClinGen gnomAD |
|
|
CA3601557 rs137877957 |
1133 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs182093444 CA133125687 |
1133 | G>D | No |
1000Genomes ClinGen |
|
|
CA3601558 rs137877957 |
1133 | G>S | Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3601554 rs141190577 |
1134 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1350265879 CA362472055 |
1136 | Q>* | No |
ClinGen TOPMed |
|
|
CA3601552 COSM402753 rs761286268 |
1136 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs148212311 CA3601553 |
1136 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs911133646 | 1137 | G>T | No | gnomAD | |
|
CA3601551 rs776608436 |
1138 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs370188952 | 1138 | S>P | No |
1000Genomes ESP ExAC gnomAD |
|
|
rs577443409 CA3601550 |
1139 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1203046050 | 1140 | S>S | No | gnomAD | |
|
rs1296275529 CA362471997 |
1141 | Q>H | No |
ClinGen TOPMed |
|
|
CA3601548 rs559207451 |
1141 | Q>R | No |
ClinGen 1000Genomes ExAC |
|
|
CA362471983 rs1271511404 |
1143 | L>P | No |
ClinGen gnomAD |
|
|
CA362471974 rs1561630236 |
1144 | S>F | No |
ClinGen Ensembl |
|
|
CA3601547 rs540973351 |
1144 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs1291079128 | 1144 | S>T | No | gnomAD | |
|
rs573855951 CA362471960 |
1145 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs372876819 | 1145 | D>M | No |
ESP TOPMed gnomAD |
|
| TCGA novel | 1146 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3601545 rs779066118 |
1146 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs762515075 | 1150 | D>R | No |
ExAC TOPMed gnomAD |
|
|
rs756638541 CA3601541 |
1151 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs143770176 CA3601542 |
1151 | D>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3601540 rs753265711 |
1152 | M>I | No |
ClinGen ExAC gnomAD |
|
| rs558309456 | 1153 | S>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs781632028 CA3601539 |
1154 | M>I | No |
ExAC gnomAD ClinGen |
|
|
CA133125650 rs911133646 |
1154 | M>T | No |
ClinGen gnomAD |
|
| rs774603201 | 1154 | M>V | No |
ExAC gnomAD |
|
|
CA3601538 rs370188952 |
1155 | S>P | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
| rs749545069 | 1156 | S>N | No |
ExAC TOPMed gnomAD |
|
|
CA362471789 rs1203046050 |
1157 | Y>S | No |
ClinGen gnomAD |
|
| rs781779074 | 1158 | S>G | No |
ExAC TOPMed gnomAD |
|
|
rs190324553 CA3601536 |
1158 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200781687 CA133125634 |
1160 | V>I | No |
1000Genomes ClinGen |
|
| rs139669983 | 1160 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs751908813 | 1161 | S>D | No |
ExAC gnomAD |
|
|
rs753239543 CA3601534 |
1161 | S>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1291079128 CA362471739 |
1161 | S>T | No |
ClinGen gnomAD |
|
|
CA133125622 rs372876819 |
1162 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
| rs139354975 | 1162 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
|
CA362471726 rs372876819 |
1162 | T>R | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs763676157 CA3601533 |
1162 | T>S | No |
ExAC gnomAD ClinGen |
|
| rs999574922 | 1164 | S>D | No | gnomAD | |
|
rs1225549562 CA362471710 |
1164 | S>F | No |
ClinGen gnomAD |
|
|
CA3601530 rs762515075 |
1167 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs775109007 | 1169 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs199919105 | 1170 | L>C | No |
1000Genomes ExAC gnomAD |
|
|
rs558309456 CA362471672 |
1170 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs759504844 | 1170 | L>H | No |
ExAC TOPMed gnomAD |
|
|
rs558309456 CA3601529 |
1170 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774603201 CA3601528 |
1171 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| rs549926617 | 1172 | D>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs763014066 | 1172 | D>V | No |
ExAC TOPMed gnomAD |
|
|
CA3601526 rs749545069 |
1173 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| rs769980024 | 1173 | D>S | No |
ExAC TOPMed gnomAD |
|
|
rs201597446 CA3601524 |
1174 | T>A | No |
ClinGen 1000Genomes TOPMed |
|
|
CA3601523 rs566315520 |
1174 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201597446 CA133125577 |
1174 | T>S | No |
1000Genomes TOPMed ClinGen |
|
|
rs781779074 CA3601520 |
1175 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs374483912 | 1175 | V>F | No |
ESP ExAC TOPMed gnomAD |
|
|
rs781779074 CA3601521 |
1175 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs374483912 | 1175 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1037113844 | 1177 | V>A | No |
TOPMed gnomAD |
|
|
CA362471633 rs1178661318 |
1177 | V>A | No |
ClinGen gnomAD |
|
|
CA3601519 rs139669983 |
1177 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs747566838 | 1177 | V>S | No |
ExAC gnomAD |
|
| rs1233495394 | 1178 | G>A | No | gnomAD | |
|
CA3601518 rs751908813 |
1178 | G>D | No |
ClinGen ExAC gnomAD |
|
| rs777455692 | 1178 | G>E | No |
ExAC gnomAD |
|
| rs142373241 | 1178 | G>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362471631 rs1457184613 |
1178 | G>S | No |
ClinGen gnomAD |
|
| rs755595092 | 1179 | G>* | No |
ExAC TOPMed gnomAD |
|
|
rs139354975 CA3601515 |
1179 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1582069258 | 1180 | E>G | No | Ensembl | |
|
CA362471610 rs999574922 |
1181 | A>D | No |
ClinGen gnomAD |
|
|
CA133125544 rs999574922 |
1181 | A>G | No |
ClinGen gnomAD |
|
|
CA3601514 rs763590924 |
1181 | A>T | No |
ExAC gnomAD ClinGen |
|
| rs767038894 | 1182 | C>F | No |
ExAC gnomAD |
|
|
CA362471597 rs1221899169 |
1183 | S>N | No |
gnomAD ClinGen |
|
|
rs1237164470 CA362471590 |
1184 | P>L | No |
ClinGen TOPMed |
|
| rs1326246733 | 1184 | P>Q | No | TOPMed | |
|
rs1375415645 CA362471591 |
1184 | P>S | No |
gnomAD ClinGen |
|
|
CA362471578 rs775109007 |
1186 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133125542 rs775109007 |
1186 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3601513 rs775109007 |
1186 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3601511 rs199919105 |
1187 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759504844 CA3601510 |
1187 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs754810623 | 1187 | R>V | No |
ExAC gnomAD |
|
| rs1267640330 | 1189 | G>P | No | gnomAD | |
|
CA3601508 COSM1228624 COSM1228625 rs549926617 |
1189 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3601507 rs763014066 |
1189 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769980024 CA3601505 |
1190 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362471556 rs1173562511 |
1191 | T>A | No |
gnomAD ClinGen |
|
|
CA362471550 rs374483912 |
1192 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3601504 rs374483912 |
1192 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs186133581 | 1192 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3601502 rs146904313 |
1193 | D>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA133125512 rs1037113844 |
1194 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA362471539 rs1037113844 |
1194 | T>P | No |
TOPMed gnomAD ClinGen |
|
|
rs747566838 CA3601501 |
1194 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1233495394 CA362471527 |
1195 | D>A | No |
ClinGen gnomAD |
|
|
CA3601497 rs777455692 |
1195 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3601499 rs142373241 |
1195 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs765595335 | 1195 | D>M | No |
ExAC TOPMed gnomAD |
|
|
CA3601500 rs142373241 |
1195 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs755595092 CA3601496 |
1196 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755595092 CA362471506 |
1196 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362471510 rs1561630001 |
1196 | W>S | No |
Ensembl ClinGen |
|
|
CA362471497 rs1582069258 |
1197 | C>G | No |
ClinGen Ensembl |
|
|
rs767038894 CA3601494 |
1199 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA362471443 rs1326246733 |
1201 | E>Q | No |
ClinGen TOPMed |
|
| rs373286778 | 1203 | I>K | No |
ESP ExAC TOPMed gnomAD |
|
|
rs754810623 CA3601493 |
1204 | L>V | No |
ClinGen ExAC gnomAD |
|
| rs147664127 | 1205 | A>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs763204210 | 1206 | S>M | No |
ExAC gnomAD |
|
|
rs1267640330 CA362471381 |
1206 | S>P | No |
ClinGen gnomAD |
|
|
rs943376192 CA133125477 |
1207 | I>V | No |
ClinGen TOPMed |
|
|
rs186133581 CA3601490 |
1209 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1306994088 | 1209 | T>Q | No | gnomAD | |
| rs780611698 | 1209 | T>R | No |
ExAC gnomAD |
|
|
CA362471318 rs1397474201 |
1210 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765595335 CA3601487 |
1212 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3601485 CA3601484 rs768862623 |
1214 | V>L | No |
ExAC gnomAD ClinGen |
|
| rs1387795785 | 1217 | F>D | No | gnomAD | |
| rs766387731 | 1218 | E>* | No |
ExAC gnomAD |
|
|
CA362471198 rs1481395684 |
1218 | E>Q | No |
ClinGen TOPMed |
|
| rs758097931 | 1219 | K>* | No | ExAC | |
| rs559074520 | 1219 | K>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs754181516 | 1220 | R>C | No |
ExAC gnomAD |
|
|
CA3601482 rs373286778 |
1220 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3601483 rs373286778 |
1220 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs764068590 | 1221 | V>T | No |
ExAC gnomAD |
|
|
CA3601481 rs147664127 |
1222 | D>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3601480 rs147664127 |
1222 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3601479 rs779282947 |
1223 | I>F | No |
ExAC gnomAD ClinGen |
|
|
rs763204210 CA3601477 |
1223 | I>M | No |
ClinGen ExAC gnomAD |
|
| rs151265651 | 1223 | I>S | No |
ESP ExAC TOPMed gnomAD |
|
|
rs1282452360 CA362471130 |
1223 | I>T | No |
ClinGen TOPMed gnomAD |
|
| rs1343046231 | 1224 | G>C | No | TOPMed | |
|
CA3601474 rs370591560 |
1226 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA362471092 rs1306994088 |
1226 | K>Q | No |
ClinGen gnomAD |
|
|
CA3601476 rs780611698 |
1226 | K>R | No |
ClinGen ExAC gnomAD |
|
| rs1318842597 | 1228 | K>H | No | gnomAD | |
|
rs1341434004 CA362471055 |
1228 | K>N | No |
gnomAD ClinGen |
|
| rs1292931903 | 1229 | D>L | No | gnomAD | |
|
rs1290411469 CA362471051 |
1229 | D>N | No |
ClinGen gnomAD |
|
|
rs1413375542 CA362471028 |
1231 | K>Q | No |
ClinGen gnomAD |
|
| rs1231800773 | 1232 | K>A | No | gnomAD | |
|
CA3601473 rs200909191 |
1232 | K>E | No |
1000Genomes ExAC gnomAD ClinGen |
|
| rs1231800773 | 1232 | K>P | No | gnomAD | |
| rs201359120 | 1233 | V>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA362470916 rs1387795785 |
1234 | E>D | No |
ClinGen gnomAD |
|
| rs1395052990 | 1234 | E>R | No | gnomAD | |
|
CA3601471 rs766387731 |
1235 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs758097931 CA3601470 |
1236 | Q>* | No |
ClinGen ExAC |
|
|
CA3601467 CA3601468 rs559074520 |
1236 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3601469 rs140510119 |
1236 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754181516 CA3601466 |
1237 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA3601465 rs764068590 |
1238 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA362470793 rs1470640456 |
1239 | T>I | No |
TOPMed gnomAD ClinGen |
|
|
CA3601464 rs151265651 |
1240 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3601463 rs151265651 |
1240 | A>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA362470770 rs1343046231 |
1241 | S>C | No |
ClinGen TOPMed |
|
|
rs772596176 CA3601462 |
1241 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA3601461 rs200206861 |
1242 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1249682729 CA362470725 |
1243 | H>Y | No |
gnomAD ClinGen |
|
|
CA3601460 rs774643483 |
1244 | E>A | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 1244 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362470671 rs1318842597 |
1245 | Q>H | No |
ClinGen gnomAD |
|
|
CA362470660 rs1292931903 |
1246 | P>L | No |
ClinGen gnomAD |
|
|
rs1231800773 CA362470613 |
1249 | S>A | No |
ClinGen gnomAD |
|
|
CA362470618 rs1231800773 |
1249 | S>P | No |
ClinGen gnomAD |
|
|
CA362470577 rs1391308673 |
1250 | G>D | No |
gnomAD ClinGen |
|
|
CA3601458 rs201359120 |
1250 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1395052990 CA362470566 |
1251 | G>R | No |
ClinGen gnomAD |
No associated diseases with Q66K14
1 regional properties for Q66K14
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Rab-GAP-TBC domain | 98 - 316 | IPR000195 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
29 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A0A087X1G2 | TBC1D3K | TBC1 domain family member 3K | Homo sapiens (Human) | PR |
| B9A6J9 | TBC1D3L | TBC1 domain family member 3L | Homo sapiens (Human) | PR |
| Q6ZT07 | TBC1D9 | TBC1 domain family member 9 | Homo sapiens (Human) | PR |
| Q9HA65 | TBC1D17 | TBC1 domain family member 17 | Homo sapiens (Human) | PR |
| Q6DHY5 | TBC1D3G | TBC1 domain family member 3G | Homo sapiens (Human) | PR |
| A0A087WVF3 | TBC1D3D | TBC1 domain family member 3D | Homo sapiens (Human) | PR |
| A0A087WXS9 | TBC1D3I | TBC1 domain family member 3I | Homo sapiens (Human) | PR |
| P0C7X1 | TBC1D3H | TBC1 domain family member 3H | Homo sapiens (Human) | PR |
| A0A087X179 | TBC1D3E | TBC1 domain family member 3E | Homo sapiens (Human) | PR |
| A6NDS4 | TBC1D3B | TBC1 domain family member 3B | Homo sapiens (Human) | PR |
| Q8WUA7 | TBC1D22A | TBC1 domain family member 22A | Homo sapiens (Human) | PR |
| Q8IZP1 | TBC1D3 | TBC1 domain family member 3 | Homo sapiens (Human) | PR |
| Q6IPX1 | TBC1D3C | TBC1 domain family member 3C | Homo sapiens (Human) | PR |
| A6NER0 | TBC1D3F | TBC1 domain family member 3F | Homo sapiens (Human) | PR |
| Q8IV04 | TBC1D10C | Carabin | Homo sapiens (Human) | PR |
| Q5TC63 | GRTP1 | Growth hormone-regulated TBC protein 1 | Homo sapiens (Human) | PR |
| O60343 | TBC1D4 | TBC1 domain family member 4 | Homo sapiens (Human) | PR |
| Q86TI0 | TBC1D1 | TBC1 domain family member 1 | Homo sapiens (Human) | PR |
| O60447 | EVI5 | Ecotropic viral integration site 5 protein homolog | Homo sapiens (Human) | PR |
| Q3MII6 | TBC1D25 | TBC1 domain family member 25 | Homo sapiens (Human) | PR |
| Q2NKQ1 | SGSM1 | Small G protein signaling modulator 1 | Homo sapiens (Human) | PR |
| Q8TC07 | TBC1D15 | TBC1 domain family member 15 | Homo sapiens (Human) | PR |
| O95759 | TBC1D8 | TBC1 domain family member 8 | Homo sapiens (Human) | PR |
| Q0IIM8 | TBC1D8B | TBC1 domain family member 8B | Homo sapiens (Human) | PR |
| Q8TEA7 | TBCK | TBC domain-containing protein kinase-like protein | Homo sapiens (Human) | PR |
| Q9UPU7 | TBC1D2B | TBC1 domain family member 2B | Homo sapiens (Human) | PR |
| A3KGB4 | Tbc1d8b | TBC1 domain family member 8B | Mus musculus (Mouse) | PR |
| Q3UYK3 | Tbc1d9 | TBC1 domain family member 9 | Mus musculus (Mouse) | PR |
| Q9Z1A9 | Tbc1d8 | TBC1 domain family member 8 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWLSPEEVLV | ANALWVTERA | NPFFVLQRRR | GHGRGGGLTG | LLVGTLDVVL | DSSARVAPYR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ILHQTQDSQV | YWTVACGSSR | KEITKHWEWL | ENNLLQTLSI | FDSEEDITTF | VKGKIHGIIA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EENKNLQPQG | DEDPGKFKEA | ELKMRKQFGM | PEGEKLVNYY | SCSYWKGRVP | RQGWLYLTVN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HLCFYSFLLG | KEVSLVVQWV | DITRLEKNAT | LLFPESIRVD | TRDQELFFSM | FLNIGETFKL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MEQLANLAMR | QLLDSEGFLE | DKALPRPIRP | HRNISALKRD | LDARAKNECY | RATFRLPRDE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RLDGHTSCTL | WTPFNKLHIP | GQMFISNNYI | CFASKEEDAC | HLIIPLREVT | IVEKADSSSV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LPSPLSISTK | SKMTFLFANL | KDRDFLVQRI | SDFLQKTPSK | QPGSIGSRKA | SVVDPSTESS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PAPQEGSEQP | ASPASPLSSR | QSFCAQEAPT | ASQGLLKLFQ | KNSPMEDLGA | KGAKEKMKEE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SWHIHFFEYG | RGVCMYRTAK | TRALVLKGIP | ESLRGELWLL | FSGAWNEMVT | HPGYYAELVE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KSTGKYSLAT | EEIERDLHRS | MPEHPAFQNE | LGIAALRRVL | TAYAFRNPTI | GYCQAMNIVT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SVLLLYGSEE | EAFWLLVALC | ERMLPDYYNT | RVVGALVDQG | IFEELTRDFL | PQLSEKMQDL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GVISSISLSW | FLTLFLSVMP | FESAVVIVDC | FFYEGIKVIL | QVALAVLDAN | MEQLLGCSDE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GEAMTMLGRY | LDNVVNKQSV | SPPIPHLRAL | LSSSDDPPAE | VDIFELLKVS | YEKFSSLRAE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DIEQMRFKQR | LKVIQSLEDT | AKRSVVRAIP | VDIGFSIEEL | EDLYMVFKAK | HLASQYWGCS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RTMAGRRDPS | LPYLEQYRID | ASQFRELFAS | LTPWACGSHT | PLLAGRMFRL | LDENKDSLIN |
| 910 | 920 | 930 | 940 | 950 | 960 |
| FKEFVTGMSG | MYHGDLTEKL | KVLYKLHLPP | ALSPEEAESA | LEAAHYFTED | SSSEASPLAS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| DLDLFLPWEA | QEALPQEEQE | GSGSEERGEE | KGTSSPDYRH | YLRMWAKEKE | AQKETIKDLP |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| KMNQEQFIEL | CKTLYNMFSE | DPMEQDLYHA | IATVASLLLR | IGEVGKKFSA | RTGRKPRDCA |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| TEEDEPPAPE | LHQDAARELQ | PPAAGDPQAK | AGGDTHLGKA | PQESQVVVEG | GSGEGQGSPS |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| QLLSDDETKD | DMSMSSYSVV | STGSLQCEDL | ADDTVLVGGE | ACSPTARIGG | TVDTDWCISF |
| 1210 | 1220 | 1230 | 1240 | ||
| EQILASILTE | SVLVNFFEKR | VDIGLKIKDQ | KKVERQFSTA | SDHEQPGVSG |