O00160
PR
Gene name |
MYO1F |
Protein name |
Unconventional myosin-If |
Names |
Myosin-Ie |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4542 |
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 O00160
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O00160-F1 | Predicted | AlphaFoldDB |
926 variants for O00160
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000523210 CA9158825 RCV002527650 rs367667498 |
891 | S>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs773563083 CA9159851 |
3 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371067269 CA9159850 |
6 | R>C | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs377551535 CA9159849 |
6 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403747707 rs377551535 |
6 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305005229 rs1042992108 |
10 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA403747680 rs1042992108 |
10 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1363766779 CA403747667 |
11 | S>R | No |
ClinGen TOPMed |
|
|
CA403747665 rs1189712576 |
12 | H>D | No |
ClinGen gnomAD |
|
|
CA9159847 rs768581898 |
12 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369911550 CA403747653 |
13 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403747654 rs1376204336 |
13 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs778653269 CA9159845 |
14 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547825192 CA9159841 |
18 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547825192 CA9159840 |
18 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA305005214 rs1003013600 |
19 | V>A | No |
ClinGen TOPMed |
|
|
rs767229688 CA9159839 |
19 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1220620257 CA403747605 |
20 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758904329 CA9159838 |
21 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 24 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765873413 CA9159836 |
28 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs939649517 CA305005200 |
30 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs369105985 CA9159834 |
30 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9159832 rs762199633 |
32 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9159831 rs776771185 |
32 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403747509 rs1426102895 |
33 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 34 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9159828 rs780174055 |
35 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9159827 rs772081337 |
37 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9159825 rs777874239 |
38 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9159826 rs749214222 |
38 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403747478 rs1175136559 |
39 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9159824 rs755932392 |
40 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755932392 CA403747470 |
40 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211592092 CA403747469 |
40 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA403747463 rs1431187464 |
41 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9159822 rs373408110 |
42 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1267099635 CA403747454 |
42 | M>T | No |
ClinGen gnomAD |
|
|
CA9159820 rs751212776 |
44 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs754655882 CA9159821 |
44 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1223024399 CA403747425 |
46 | I>T | No |
ClinGen TOPMed |
|
|
CA9159818 rs527980814 |
46 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs963246904 | 47 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403747336 rs1317264138 |
48 | T>A | No |
ClinGen gnomAD |
|
|
rs759632182 CA9159790 |
50 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs375056736 CA9159791 |
50 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371689599 CA9159789 |
51 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9159787 rs748095630 |
57 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1401799240 CA403747267 |
59 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 61 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776453460 CA9159786 |
62 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1187718129 CA403747196 |
64 | P>L | No |
ClinGen TOPMed |
|
|
rs768454871 CA9159785 |
64 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 65 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9159783 rs779696505 |
65 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 65 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403747188 rs779696505 |
65 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9159782 rs758029581 |
66 | F>L | No |
ClinGen ExAC |
|
|
rs1295025983 CA403747161 |
69 | R>C | No |
ClinGen gnomAD |
|
|
rs778366731 CA9159780 |
69 | R>H | Variant assessed as Somatic; 9.283e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778366731 CA403747158 |
69 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538137944 CA9159778 |
70 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs569345387 CA403747143 |
71 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1600004622 CA403747145 |
71 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 72 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9159776 rs373961813 |
72 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197743232 CA403747110 |
76 | G>D | No |
ClinGen gnomAD |
|
|
CA403747113 rs1231233157 |
76 | G>S | No |
ClinGen TOPMed |
|
| rs774761610 | 77 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370497065 CA403747107 |
77 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370497065 CA9159774 |
77 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201191520 CA9159773 |
77 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs199721373 CA9159752 |
83 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1005848573 CA305004913 |
83 | P>T | No |
ClinGen Ensembl |
|
|
rs763029152 CA9159751 |
84 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1568362357 CA403747049 |
84 | P>T | No |
ClinGen Ensembl |
|
|
rs200396679 CA305004905 |
86 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1050289900 CA305004909 |
86 | I>S | No |
ClinGen Ensembl |
|
|
CA403747036 rs1487091496 |
86 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775459301 CA9159747 |
88 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9159746 rs771808687 |
90 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA403746987 rs1227370092 |
93 | M>T | No |
ClinGen TOPMed |
|
|
CA9159744 rs773928816 |
93 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs570873153 CA305004900 |
95 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs983365231 CA305004902 |
95 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 98 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 100 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403746922 rs1339914975 |
101 | C>Y | No |
ClinGen gnomAD |
|
|
rs1182479255 CA403746868 |
105 | C>S | No |
ClinGen TOPMed |
|
|
CA9159738 rs781772109 |
106 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1310933496 CA403746855 |
107 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 110 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369349036 CA305004560 |
111 | E>K | No |
ClinGen gnomAD |
|
|
rs758850061 CA305004559 |
114 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9159716 rs758850061 |
114 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599998378 CA403746473 |
118 | V>M | No |
ClinGen Ensembl |
|
|
rs1195943584 CA403746454 |
119 | A>V | No |
ClinGen TOPMed |
|
|
rs779229237 CA9159714 |
120 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1599998320 CA403746439 |
121 | K>Q | No |
ClinGen Ensembl |
|
|
rs757263233 CA9159713 |
122 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1255625290 CA403746421 |
122 | Y>N | No |
ClinGen TOPMed |
|
|
CA403746411 rs1204275109 |
123 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403746394 rs1339471919 |
124 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9159712 rs753929547 |
125 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA403746374 rs1214832140 |
125 | G>V | No |
ClinGen gnomAD |
|
|
CA403746301 rs1568361001 |
131 | S>A | No |
ClinGen Ensembl |
|
|
CA9159710 rs368903014 |
133 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9159708 rs201364078 |
135 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9159707 rs201364078 |
135 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403746159 rs1568360809 |
139 | H>D | No |
ClinGen Ensembl |
|
|
rs35778736 CA403746150 |
139 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9159680 rs374065723 |
140 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403746115 rs1441164729 |
142 | D>G | No |
ClinGen TOPMed |
|
|
CA403746119 rs1352408462 |
142 | D>H | No |
ClinGen TOPMed |
|
|
rs370081150 CA9159679 |
143 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370081150 CA403746099 |
143 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403746075 rs1160985338 |
145 | L>P | No |
ClinGen gnomAD |
|
|
rs770840881 CA305004510 |
148 | N>H | No |
ClinGen Ensembl |
|
|
rs1599997363 CA403746038 |
148 | N>T | No |
ClinGen Ensembl |
|
|
CA403746019 rs1231954967 |
149 | P>R | No |
ClinGen TOPMed |
|
|
CA9159674 rs769799363 |
152 | E>Q | No |
ClinGen ExAC |
|
|
CA403745975 rs1599997241 |
153 | A>P | No |
ClinGen Ensembl |
|
|
CA403745951 rs1312965229 |
155 | G>S | No |
ClinGen gnomAD |
|
|
CA305004489 rs1013283787 |
157 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403745917 rs1455440010 |
158 | K>R | No |
ClinGen gnomAD |
|
|
CA9159668 rs757136900 |
160 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1599997066 CA403745900 |
161 | R>G | No |
ClinGen Ensembl |
|
|
CA403745897 rs1184880366 |
161 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763847411 CA9159667 |
163 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9159666 rs763847411 |
163 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1233779301 CA403745878 |
164 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 165 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9159664 rs760048213 |
165 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs376971437 CA9159663 |
166 | S>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767003505 CA9159662 |
167 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA403745829 rs1304888803 |
170 | K>Q | No |
ClinGen gnomAD |
|
|
rs1405426633 CA403745818 |
171 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA403745811 rs1193987060 |
172 | F>S | No |
ClinGen TOPMed |
|
|
rs1392670665 CA403745813 |
172 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1369432062 CA403745785 |
175 | Q>H | No |
ClinGen gnomAD |
|
|
CA403745783 rs1165623588 |
176 | F>L | No |
ClinGen gnomAD |
|
|
rs768738609 CA403745768 |
178 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9159634 rs768738609 |
178 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369108938 CA9159633 |
178 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000970500 rs369108938 CA9159632 |
178 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1162509781 CA403745766 |
179 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs904340554 CA305004214 |
181 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9159631 rs376497844 |
181 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373430924 CA9159630 |
182 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9159628 rs567357493 |
189 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403745682 rs770511572 |
191 | L>F | No |
ClinGen gnomAD |
|
|
CA403745675 rs1299092338 |
193 | E>K | No |
ClinGen TOPMed |
|
|
rs747311306 CA9159627 |
196 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9159626 rs780739771 |
196 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9159625 rs754452234 |
197 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 198 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751056439 CA9159624 |
199 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs758871140 CA403745600 |
203 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA403745568 rs762112080 |
207 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9159618 rs776848982 |
208 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403745539 rs1440468568 |
211 | Y>* | No |
ClinGen gnomAD |
|
|
CA403745507 rs1195043089 |
215 | E>K | No |
ClinGen gnomAD |
|
|
CA9159579 rs767859102 |
218 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1360998178 CA403745474 |
220 | E>Q | No |
ClinGen gnomAD |
|
|
CA403745462 rs1382299973 |
221 | Q>R | No |
ClinGen TOPMed |
|
|
CA9159577 rs200043019 |
223 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403745438 rs1227260873 |
224 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 227 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766520493 CA9159576 |
227 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA403745412 rs1433323776 |
228 | M>I | No |
ClinGen gnomAD |
|
|
CA9159575 rs570835103 |
230 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403745398 rs1329855421 |
231 | D>A | No |
ClinGen TOPMed |
|
|
rs934776190 CA305004140 |
231 | D>N | No |
ClinGen TOPMed |
|
|
CA403745375 rs1367563403 |
233 | Y>C | No |
ClinGen gnomAD |
|
|
CA9159573 rs768396313 |
233 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1400511928 CA403745367 |
234 | Y>H | No |
ClinGen gnomAD |
|
|
CA403745348 rs1409661160 |
235 | Y>C | No |
ClinGen gnomAD |
|
|
rs760465599 CA9159571 |
239 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9159568 rs745602882 |
243 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs773707121 CA9159567 |
244 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA403745244 rs773707121 |
244 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9159566 rs749709330 |
245 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199790449 CA403745218 |
246 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199790449 CA9159564 |
246 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9159563 rs756483186 |
247 | T>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 248 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs992168732 CA305004126 |
249 | D>N | No |
ClinGen gnomAD |
|
|
rs992168732 CA403745174 |
249 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 250 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201910417 CA403745136 |
251 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403745131 rs1319063292 |
252 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs751856878 CA403745096 |
254 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1180476765 CA403745100 |
254 | G>R | No |
ClinGen TOPMed |
|
|
CA403745102 rs1180476765 |
254 | G>S | No |
ClinGen TOPMed |
|
|
rs751856878 CA9159559 |
254 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1238312753 CA403745083 |
255 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs759407808 CA9159530 |
258 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs200007531 CA9159529 |
258 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1426703865 CA403744279 |
259 | A>T | No |
ClinGen gnomAD |
|
|
rs1184989044 CA403744270 |
259 | A>V | No |
ClinGen gnomAD |
|
|
rs766070344 CA9159528 |
260 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA403744216 rs1599986093 |
263 | I>M | No |
ClinGen Ensembl |
|
|
rs762571645 CA9159527 |
263 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA403744198 rs1599986055 |
265 | I>T | No |
ClinGen Ensembl |
|
|
rs769475742 CA9159525 |
266 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777308242 CA9159523 |
267 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403744153 rs1157740839 |
269 | I>V | No |
ClinGen TOPMed |
|
|
rs1568357658 CA403744130 |
270 | Q>H | No |
ClinGen Ensembl |
|
|
CA403744124 rs1382043136 |
271 | Q>E | No |
ClinGen gnomAD |
|
|
CA305003810 rs34408419 |
271 | Q>P | No |
ClinGen Ensembl |
|
|
CA403744103 rs1313206573 |
273 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403744068 rs563135856 |
275 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772331130 CA9159519 |
277 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 278 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746130751 CA9159518 |
278 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 280 | I>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757352818 CA9159516 |
280 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs902228441 CA305003798 |
282 | H>Y | No |
ClinGen Ensembl |
|
|
CA305003795 rs1009419386 |
285 | N>D | No |
ClinGen Ensembl |
|
|
CA403743939 rs1238171207 |
286 | I>T | No |
ClinGen TOPMed |
|
|
rs1165114478 CA403743867 |
291 | D>V | No |
ClinGen gnomAD |
|
|
rs781194551 CA9159514 |
291 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9159512 rs751357754 |
292 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9159511 rs762642727 |
294 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs577838846 CA9159509 |
295 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1244338008 CA403743810 |
295 | A>V | No |
ClinGen gnomAD |
|
|
CA9159508 rs764799983 RCV000363062 |
296 | R>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs368817158 CA305003787 |
296 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9159507 rs368817158 |
296 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305003785 rs117515581 |
298 | E>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9159506 rs564337067 |
299 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376387166 CA9159505 |
300 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1260815919 | 302 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761149613 CA9159504 |
302 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 303 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759899326 CA9159482 |
304 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA9159481 rs774500152 |
306 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774935688 CA9159479 |
307 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1194330833 CA403743621 |
307 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403743586 rs1237539572 |
311 | G>S | No |
ClinGen Ensembl |
|
|
CA9159477 rs769784805 |
312 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 313 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403743544 rs746924954 |
314 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA9159475 rs375477482 |
314 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403743533 rs187824097 |
314 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746924954 CA9159476 |
314 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs372083345 CA9159473 |
315 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368465180 CA9159472 |
316 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1332546146 CA403743501 |
318 | Q>K | No |
ClinGen gnomAD |
|
|
rs753485114 CA9159470 |
318 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1037069029 CA305003714 |
319 | E>K | No |
ClinGen Ensembl |
|
|
CA403743456 rs1226139409 |
321 | L>V | No |
ClinGen TOPMed |
|
|
rs763614793 CA9159469 |
322 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs932598836 CA305003711 |
322 | T>P | No |
ClinGen gnomAD |
|
|
CA305003709 rs11882152 |
323 | S>T | No |
ClinGen Ensembl |
|
|
CA9159468 rs755613439 |
324 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 324 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs914841062 CA305003706 |
329 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9159467 rs374105823 |
329 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403743321 rs1239023406 |
331 | G>D | No |
ClinGen gnomAD |
|
|
rs1555725736 CA403743327 RCV000497352 |
331 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA9159465 rs760095446 CA403743311 |
332 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759248390 CA305003700 |
333 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs774694675 CA9159464 |
333 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs375744241 CA305003695 |
335 | E>K | No |
ClinGen ESP gnomAD |
|
|
rs1599984026 CA403743259 |
336 | S>A | No |
ClinGen Ensembl |
|
|
rs1259666371 CA403743250 |
337 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs924764164 CA305003693 |
338 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1313945670 CA403743207 |
340 | T>N | No |
ClinGen gnomAD |
|
|
CA9159460 rs769845393 |
342 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9159458 rs776825881 |
343 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA403743161 rs1165709945 |
344 | E>K | No |
ClinGen TOPMed |
|
|
rs966853165 CA305003684 |
346 | A>T | No |
ClinGen Ensembl |
|
|
rs201712602 CA9159457 |
349 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA403743097 rs1599983848 |
349 | T>P | No |
ClinGen Ensembl |
|
|
CA305003681 rs1011082978 |
350 | R>C | No |
ClinGen TOPMed |
|
|
CA403743080 rs1400514146 |
350 | R>H | No |
ClinGen TOPMed |
|
| TCGA novel | 350 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757143087 CA9159454 |
355 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA305003677 rs1033862286 |
356 | G>A | No |
ClinGen Ensembl |
|
|
CA403742967 rs1239038708 |
359 | A>V | No |
ClinGen gnomAD |
|
|
rs199804599 CA9159453 |
360 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9159450 rs139211736 RCV000967886 RCV000612196 |
363 | D>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA403742895 rs1488346325 |
365 | L>F | No |
ClinGen gnomAD |
|
|
CA403742877 rs1361128306 |
366 | V>E | No |
ClinGen gnomAD |
|
|
CA9159448 rs199584431 |
366 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403742868 rs1349617346 |
367 | E>G | No |
ClinGen TOPMed |
|
|
CA9159446 rs769167899 |
367 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9159425 rs770373423 |
371 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1053016145 CA305003337 |
371 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs866390824 CA305003336 |
373 | M>T | No |
ClinGen Ensembl |
|
|
rs1197119774 CA403742319 |
377 | Q>H | No |
ClinGen gnomAD |
|
|
CA9159422 rs754132433 |
382 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs761915909 CA9159423 |
382 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA305003335 rs866917226 |
383 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs368749334 CA403742281 |
383 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9159420 rs368749334 |
383 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1263080719 CA403742275 |
384 | V>L | No |
ClinGen gnomAD |
|
|
CA9159418 rs770764911 |
389 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403742231 rs73004514 |
390 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772854958 CA9159416 |
391 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9159415 rs769682868 |
393 | F>S | No |
ClinGen ExAC |
|
|
CA403742205 rs1212745475 |
394 | Q>R | No |
ClinGen gnomAD |
|
|
rs761606405 CA9159396 |
395 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 396 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180471379 CA403742178 |
396 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9159394 rs770889579 |
397 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs770889579 CA305003330 |
397 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 399 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774840348 CA9159392 |
399 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771632270 CA9159391 |
401 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA403742129 rs1241211846 |
403 | I>N | No |
ClinGen gnomAD |
|
|
rs746319059 CA9159390 |
405 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs561129153 CA9159388 |
406 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9159387 rs749657585 |
407 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs778349518 CA9159386 |
407 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 408 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9159385 rs756377158 |
415 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs374873299 CA305003329 |
416 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374873299 CA9159384 |
416 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403742034 rs1298255176 |
417 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 421 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305003328 rs371670631 |
422 | E>D | No |
ClinGen ESP TOPMed |
|
|
CA9159382 rs755088166 |
422 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166397072 CA403742002 |
422 | E>V | No |
ClinGen gnomAD |
|
|
CA305003074 rs994758065 |
425 | E>* | No |
ClinGen Ensembl |
|
|
rs752235811 CA9159352 |
428 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs374616064 CA9159351 |
429 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759178982 CA9159350 |
430 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9159349 rs773881396 |
430 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9159348 RCV000972550 rs201654775 |
432 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9159347 rs376794930 |
432 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201654775 CA403741558 |
432 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403741544 rs1460011581 |
434 | T>P | No |
ClinGen TOPMed |
|
|
CA9159346 rs773888828 |
435 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9159345 rs770222425 |
436 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374051040 CA9159344 |
438 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305003073 rs1006546718 |
440 | N>D | No |
ClinGen TOPMed |
|
|
CA403741430 rs1302078853 |
444 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1303293073 CA403741392 |
447 | L>F | No |
ClinGen TOPMed |
|
|
CA9159340 rs780059279 |
448 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9159338 rs370938191 |
449 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9159302 rs770942505 CA9159303 |
453 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568351157 CA403740923 |
454 | P>S | No |
ClinGen Ensembl |
|
|
CA403740918 rs1207653726 |
455 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA403740914 rs1354731213 |
455 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 455 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403740903 rs1231274403 |
457 | I>N | No |
ClinGen gnomAD |
|
|
CA9159299 rs754747911 |
458 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA305002899 rs1049722804 |
459 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9159298 CA9159297 rs780033132 |
459 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs758097575 CA9159296 |
460 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9159295 rs750119331 |
461 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs764762806 CA9159294 |
462 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1392681334 CA403740817 |
464 | V>M | No |
ClinGen gnomAD |
|
|
rs761238426 CA9159290 |
466 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9159289 rs775802847 |
468 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs759707124 CA9159287 |
471 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768444812 CA9159282 |
473 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9159283 CA403740701 rs773405214 |
473 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9159284 rs773405214 |
473 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779943188 CA9159280 |
474 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 475 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 483 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367720693 CA9159278 |
485 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1434659172 CA403740519 |
487 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA403740504 rs1243716962 |
488 | G>E | No |
ClinGen TOPMed |
|
|
rs577126101 CA9159274 |
489 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756591265 CA403740477 |
490 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403740483 rs1397793276 |
490 | H>Y | No |
ClinGen gnomAD |
|
|
CA9159272 rs753226203 |
491 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424806826 CA403740408 |
495 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 495 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759903295 CA9159270 |
497 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs751748703 CA9159269 |
498 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773140686 CA9159266 |
499 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs763272747 CA9159267 |
499 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9159265 rs371153488 |
500 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9159263 rs368939767 |
501 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_079873 RCV000835771 rs200797032 CA9159262 |
502 | I>V | probable disease-associated variant found in a patient with non-syndromic sensorineural hearing loss [UniProt] | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs376037505 CA9159261 |
503 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305002853 rs766782618 |
506 | A>S | No |
ClinGen Ensembl |
|
|
rs749020389 CA9159258 |
506 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1374443528 CA403740306 |
508 | K>E | No |
ClinGen gnomAD |
|
|
rs755652788 CA9159256 |
508 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9159257 rs777099191 |
508 | K>R | No |
ClinGen ExAC |
|
|
rs1487464969 CA403739820 |
510 | S>F | No |
ClinGen gnomAD |
|
|
rs780236834 CA9159234 |
510 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA305002402 rs757798944 |
511 | Y>C | No |
ClinGen Ensembl |
|
|
rs1288229044 CA403739819 |
511 | Y>H | No |
ClinGen gnomAD |
|
|
CA9159232 rs750553132 |
512 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9159231 rs373165252 |
513 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1031612510 CA305002398 |
514 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs757617518 CA9159230 |
515 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA403739720 rs1277399984 |
515 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs764319544 CA9159228 |
518 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs368926502 CA9159227 |
521 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403739617 rs1400523125 |
521 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs766022809 CA9159225 |
523 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9159224 rs762822978 |
524 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 525 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403739518 rs1419017110 |
527 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9159222 rs769435412 |
528 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA305002393 rs895926018 |
529 | I>T | No |
ClinGen TOPMed |
|
|
rs747841125 CA9159221 |
530 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 531 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403739416 rs1306409805 |
532 | M>T | No |
ClinGen TOPMed |
|
|
CA403739397 rs1370334960 |
533 | Q>* | No |
ClinGen TOPMed |
|
|
CA403739357 rs1187133604 |
535 | S>G | No |
ClinGen gnomAD |
|
|
CA9159196 rs556054718 |
541 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403738579 rs556054718 |
541 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9159197 rs556054718 |
541 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9159198 rs371759403 |
541 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9159195 rs771454462 |
542 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369359209 CA9159193 |
546 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1034899110 CA305000886 |
548 | L>P | No |
ClinGen Ensembl |
|
|
rs567270372 CA9159192 |
548 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1176701417 CA403738441 |
549 | D>E | No |
ClinGen gnomAD |
|
|
CA403738449 rs1379544091 |
549 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 550 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403738439 rs1220387531 |
550 | G>R | No |
ClinGen TOPMed |
|
|
rs760968370 CA9159190 |
551 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752820866 CA9159191 |
551 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1199704322 CA403738409 |
552 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 553 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375221696 CA9159188 |
555 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs981646644 CA305000880 |
555 | R>H | No |
ClinGen gnomAD |
|
|
rs1599944399 CA403738319 |
558 | T>P | No |
ClinGen Ensembl |
|
|
rs900337903 CA305000875 |
559 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9159184 rs367686773 |
560 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs993825860 CA305000871 |
561 | S>P | No |
ClinGen Ensembl |
|
|
rs898202144 CA305000869 |
562 | K>N | No |
ClinGen gnomAD |
|
|
rs1400271754 CA403738265 |
562 | K>R | No |
ClinGen gnomAD |
|
|
rs1599937104 CA403738019 |
565 | K>N | No |
ClinGen Ensembl |
|
|
rs1599937066 CA403737958 |
569 | D>A | No |
ClinGen Ensembl |
|
|
CA9159156 rs200858073 |
569 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403737916 rs1268599186 |
572 | A>T | No |
ClinGen TOPMed |
|
|
CA305000270 rs771016308 |
573 | T>I | No |
ClinGen Ensembl |
|
|
CA305000272 rs771016308 |
573 | T>K | No |
ClinGen Ensembl |
|
|
CA9159153 rs776728492 |
577 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403737841 rs1327097271 |
577 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9159152 rs768922091 |
579 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs747086449 CA9159151 |
580 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA403737786 rs1464926273 |
582 | I>T | No |
ClinGen gnomAD |
|
|
rs1420943239 CA403737777 |
583 | R>C | No |
ClinGen gnomAD |
|
|
rs1169285266 CA403737774 |
583 | R>H | No |
ClinGen gnomAD |
|
|
CA9159149 rs757164846 |
585 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs755866113 CA403737711 |
588 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777585517 CA9159147 |
588 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs907653873 CA305000260 |
589 | E>K | No |
ClinGen Ensembl |
|
|
CA403737611 rs1268956116 |
593 | P>A | No |
ClinGen TOPMed |
|
|
rs1271410270 CA403737603 |
593 | P>L | No |
ClinGen gnomAD |
|
|
rs754747494 CA9159143 |
594 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9159142 rs148281976 |
594 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000415052 rs148281976 CA9159141 |
594 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1599936766 CA403737564 |
596 | W>* | No |
ClinGen Ensembl |
|
|
CA305000252 rs369537745 |
598 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs369537745 CA403737535 |
598 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA403737334 rs1300652931 |
601 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs758133545 CA9159101 |
602 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9159100 rs749867467 |
605 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9159099 rs778532982 |
606 | E>G | No |
ClinGen ExAC |
|
|
rs757654643 CA9159098 |
610 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs754372219 CA9159097 |
611 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1568341124 CA403737131 |
614 | I>V | No |
ClinGen Ensembl |
|
|
CA403737109 rs761041920 |
615 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305000168 rs953917543 |
616 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 617 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403737070 rs1234937813 |
618 | R>G | No |
ClinGen gnomAD |
|
|
CA403737050 rs1277194138 |
619 | A>T | No |
ClinGen gnomAD |
|
|
rs1212225580 CA403737040 |
619 | A>V | No |
ClinGen gnomAD |
|
|
rs1248587093 CA403737038 |
620 | G>S | No |
ClinGen TOPMed |
|
|
CA403736996 rs1432075126 |
623 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs771067950 CA9159090 |
624 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324249849 CA403736976 |
625 | R>C | No |
ClinGen gnomAD |
|
|
CA305000166 rs968861450 |
625 | R>H | No |
ClinGen TOPMed |
|
|
rs1385081451 CA403736942 |
627 | F>L | No |
ClinGen TOPMed |
|
|
rs761619477 CA403736929 |
627 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746792025 CA9159086 |
628 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776718917 CA9159088 |
628 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746792025 CA9159087 |
628 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 633 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390048273 CA403736801 |
634 | Y>C | No |
ClinGen gnomAD |
|
|
rs370105681 CA9159066 |
635 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1219580903 CA403736772 |
637 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403736762 rs1568340790 |
638 | T>I | No |
ClinGen Ensembl |
|
|
CA403736753 rs1434404908 |
639 | P>L | No |
ClinGen gnomAD |
|
|
rs1298964375 CA403736758 |
639 | P>T | No |
ClinGen gnomAD |
|
|
CA403736749 rs1175655074 |
640 | E>K | Variant assessed as Somatic; 5.858e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9159064 rs745445244 |
641 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA305000148 rs202195089 |
641 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA403736734 rs745445244 |
641 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA9159062 rs770548153 |
643 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs781374288 CA9159058 |
644 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9159057 rs781374288 |
644 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs373423000 CA9159059 |
644 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9159056 rs755378609 |
646 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573248456 CA9159055 |
646 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573248456 CA305000137 |
646 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201646155 CA9159052 |
649 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9159051 rs371339136 |
650 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9159050 rs760648457 |
650 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9159048 rs199663368 |
653 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403736585 rs1415493086 |
655 | H>Y | No |
ClinGen gnomAD |
|
|
rs989309812 CA305000127 |
656 | L>P | No |
ClinGen TOPMed |
|
|
CA305000125 rs1031470726 |
657 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA9159045 rs200911217 |
658 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9159046 rs557720157 |
658 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9159044 rs201138222 |
659 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed |
|
CA9159042 rs769328708 |
661 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445920509 CA403736512 |
662 | M>T | No |
ClinGen gnomAD |
|
|
CA9159040 rs376655905 |
662 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769105319 CA9159039 |
663 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373362851 CA9159037 |
665 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 667 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403736448 rs1261645348 |
669 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9159036 rs758642752 |
672 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1295356739 CA403736419 |
673 | K>M | No |
ClinGen gnomAD |
|
|
CA9159034 rs779097714 |
673 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs757436755 CA9159033 |
675 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753914209 CA9159032 |
676 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA403736398 rs1383820158 |
677 | K>E | No |
ClinGen gnomAD |
|
|
CA403736381 rs1221238194 |
679 | P>S | No |
ClinGen TOPMed |
|
|
CA9159031 rs369101949 |
680 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759457500 CA9159030 |
681 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303820273 CA403735434 |
687 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs375465378 CA9159003 |
688 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9159001 rs761433713 |
690 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA403735408 rs1171244907 |
691 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs866600562 CA304998980 |
692 | K>R | No |
ClinGen Ensembl |
|
|
CA304998979 rs192805660 |
693 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9158999 rs371664382 |
693 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304998978 rs964105100 |
694 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1177544539 CA403735363 |
697 | A>V | No |
ClinGen TOPMed |
|
|
CA9158996 rs772755394 |
698 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772755394 CA9158997 |
698 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158995 rs746204991 |
698 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403735330 rs1352084476 |
700 | I>T | No |
ClinGen TOPMed |
|
|
CA9158994 rs368125243 |
703 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403735264 rs1349900545 |
705 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA403735256 rs1279258572 |
706 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771170131 CA9158993 |
706 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200375822 CA9158990 |
708 | V>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200375822 CA9158991 |
708 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749484151 CA403735231 |
708 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158992 rs749484151 |
708 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403735226 rs1354461808 |
709 | A>T | No |
ClinGen gnomAD |
|
|
CA403735215 rs1310491678 |
710 | V>I | No |
ClinGen gnomAD |
|
|
CA9158988 rs201305709 |
711 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403735202 rs746912834 |
711 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1400696055 CA403735186 |
712 | K>T | No |
ClinGen gnomAD |
|
|
rs1406211383 CA403735161 |
714 | E>K | No |
ClinGen gnomAD |
|
|
CA403735160 rs1406211383 |
714 | E>Q | No |
ClinGen gnomAD |
|
|
CA403735144 rs1160694738 |
715 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403735143 rs1160694738 |
715 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs758367195 CA9158987 |
716 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs758367195 CA403735129 |
716 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9158984 rs756871024 |
717 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs370297948 CA9158986 |
717 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753466592 CA9158983 |
718 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425737419 CA403735089 |
719 | E>K | No |
ClinGen gnomAD |
|
|
rs763202102 CA9158956 |
722 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA403734971 rs1391509606 |
723 | I>T | No |
ClinGen TOPMed |
|
|
rs1442319835 CA403734947 |
726 | N>H | No |
ClinGen TOPMed |
|
|
rs1169762221 CA403734925 |
726 | N>K | No |
ClinGen gnomAD |
|
|
rs868521444 CA403734859 |
730 | R>P | No |
ClinGen gnomAD |
|
|
rs868521444 CA304998927 |
730 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403734850 rs1189119639 |
731 | R>K | No |
ClinGen gnomAD |
|
|
rs773662654 CA9158954 |
732 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9158953 rs769899272 |
732 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA304998922 rs775670923 |
733 | N>K | No |
ClinGen Ensembl |
|
|
CA304998920 rs762039742 |
737 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158952 rs762039742 |
737 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304998918 rs930576028 |
739 | F>L | No |
ClinGen Ensembl |
|
|
CA304998916 rs908681220 |
740 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs776629967 CA9158951 |
741 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776629967 CA403734701 |
741 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770943124 CA9158947 |
744 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403734629 rs1229751830 |
744 | L>P | No |
ClinGen gnomAD |
|
|
CA403734624 rs1568334929 |
745 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 745 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403734603 rs1357494338 |
747 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA403734565 rs370908051 |
749 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304998908 rs1028019685 |
749 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs370908051 CA9158946 |
749 | R>W | Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9158943 CA403734509 rs752401021 |
751 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA304998905 rs996910823 |
751 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9158941 rs377604689 |
753 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766761177 CA9158939 |
753 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs377604689 CA9158940 |
753 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403734447 rs1473642972 |
754 | Q>H | No |
ClinGen TOPMed |
|
|
CA9158936 rs765642176 |
756 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9158935 rs761986294 |
757 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403734339 rs1481435242 |
759 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 760 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761308378 CA9158932 |
761 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304998893 rs943245009 |
761 | R>W | No |
ClinGen gnomAD |
|
|
rs775707003 CA9158931 |
762 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA403734253 rs1313137443 |
763 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9158929 rs200726649 |
765 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747752153 CA304998884 |
766 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158926 rs747752153 |
766 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747752153 CA9158927 |
766 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780966187 CA9158925 |
767 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158924 rs754715040 |
770 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1304507824 CA403734072 |
770 | K>N | No |
ClinGen gnomAD |
|
|
rs758768612 CA9158921 |
772 | D>A | No |
ClinGen ExAC |
|
|
CA9158922 rs537703401 |
772 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403733999 rs1156708600 |
773 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1473341045 CA403733994 |
773 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA304998874 rs373980682 |
774 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs772218675 CA304998872 |
774 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA403733951 rs1158656532 |
775 | F>Y | No |
ClinGen gnomAD |
|
|
rs1472830111 CA403733942 |
776 | K>E | No |
ClinGen TOPMed |
|
|
rs541274120 CA403733102 |
777 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9158905 rs541274120 |
777 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1207143686 CA403733085 |
778 | I>N | No |
ClinGen gnomAD |
|
|
rs953533600 CA304998255 |
778 | I>V | No |
ClinGen Ensembl |
|
|
RCV001193829 CA9158903 rs201198914 |
780 | R>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9158902 rs779362654 |
780 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201198914 CA9158904 |
780 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403732965 rs1333007273 |
785 | T>M | No |
ClinGen gnomAD |
|
|
CA403732957 rs1212218321 |
786 | P>S | No |
ClinGen TOPMed |
|
|
CA403732930 rs1325717802 |
787 | K>R | No |
ClinGen gnomAD |
|
|
rs1437267551 CA403732888 |
789 | V>A | No |
ClinGen gnomAD |
|
|
rs764456294 CA9158899 |
789 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA403732881 rs1365637351 |
790 | Y>H | No |
ClinGen gnomAD |
|
|
CA403732855 rs1260298546 |
791 | V>M | No |
ClinGen TOPMed |
|
|
CA403732830 rs1568332951 |
792 | I>T | No |
ClinGen Ensembl |
|
|
rs375036959 CA9158898 |
792 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9158896 rs767444953 |
794 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158895 rs201723456 |
794 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 797 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1394251312 CA403732750 |
798 | K>R | No |
ClinGen TOPMed |
|
|
rs1315375217 CA403732726 |
800 | G>E | No |
ClinGen gnomAD |
|
|
rs367713395 CA9158893 |
801 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1435168810 CA403732720 |
801 | P>S | No |
ClinGen TOPMed |
|
|
CA403732698 rs1193430250 |
803 | K>E | No |
ClinGen gnomAD |
|
|
rs1292298106 CA403732674 |
805 | Q>K | No |
ClinGen gnomAD |
|
|
rs1338815164 CA403732659 |
806 | V>L | No |
ClinGen gnomAD |
|
|
rs1315071563 CA403732647 |
807 | C>Y | No |
ClinGen gnomAD |
|
|
rs372844037 CA9158889 |
812 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368793623 CA9158887 |
813 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9158888 rs368793623 |
813 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1355842879 CA403732520 |
818 | A>D | No |
ClinGen gnomAD |
|
|
rs771666143 CA9158886 |
820 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302349633 CA403732509 |
820 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9158885 rs200225777 RCV000842361 |
821 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs778454470 CA9158884 |
825 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403732295 rs921998705 |
826 | T>K | No |
ClinGen TOPMed |
|
|
CA304998140 rs921998705 |
826 | T>M | No |
ClinGen TOPMed |
|
|
rs770457876 CA9158862 |
830 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA403732261 rs1279019140 |
831 | F>S | No |
ClinGen gnomAD |
|
|
rs1204345905 CA403732257 |
832 | F>L | No |
ClinGen gnomAD |
|
|
rs1204345905 CA403732255 |
832 | F>V | No |
ClinGen gnomAD |
|
|
CA403732245 rs1599913720 |
833 | I>T | No |
ClinGen Ensembl |
|
|
CA403732239 rs1599913707 |
834 | L>P | No |
ClinGen Ensembl |
|
|
rs778229388 CA9158859 |
835 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9158858 rs182601554 |
836 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403732217 rs1382547804 |
837 | D>G | No |
ClinGen TOPMed |
|
|
rs748538088 CA9158857 |
838 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA304998132 rs867308879 |
838 | A>V | No |
ClinGen Ensembl |
|
|
rs114946243 CA9158855 RCV000879180 |
839 | A>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs115485773 RCV000879181 CA9158856 |
839 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA304998127 rs989083308 |
840 | D>N | No |
ClinGen Ensembl |
|
|
rs1400492798 CA403732177 |
844 | E>K | No |
ClinGen gnomAD |
|
|
rs1400492798 CA403732176 |
844 | E>Q | No |
ClinGen gnomAD |
|
|
rs1161625632 CA403732163 |
845 | S>R | No |
ClinGen gnomAD |
|
|
CA9158852 rs758533761 |
846 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 848 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369189498 CA9158849 |
851 | F>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA403732068 rs1599913518 |
854 | L>F | No |
ClinGen Ensembl |
|
|
rs1296163489 CA403732048 |
856 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA403732038 rs1568332449 |
856 | C>S | No |
ClinGen Ensembl |
|
|
rs1568332449 CA403732040 |
856 | C>Y | No |
ClinGen Ensembl |
|
|
CA403732006 rs1280824282 |
858 | R>H | No |
ClinGen TOPMed |
|
|
CA403732012 rs1192467364 |
858 | R>S | No |
ClinGen gnomAD |
|
|
rs767221926 CA9158847 |
860 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158846 rs759149469 |
861 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1568332418 CA403731963 |
862 | A>T | No |
ClinGen Ensembl |
|
|
CA304998117 rs528354232 |
862 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs774014268 CA9158845 |
865 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774014268 CA403731929 |
865 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403731920 rs1333744883 |
866 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 868 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403731897 rs1229554216 |
868 | P>T | No |
ClinGen gnomAD |
|
|
rs1285294817 CA403731879 |
869 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1437380393 CA403731877 |
869 | L>P | No |
ClinGen TOPMed |
|
|
CA403731872 rs1599913355 |
870 | T>P | No |
ClinGen Ensembl |
|
|
CA403731868 rs1599913345 |
870 | T>S | No |
ClinGen Ensembl |
|
|
rs561818983 CA9158844 CA403731852 |
872 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1363441007 CA403731851 |
873 | D>N | No |
ClinGen gnomAD |
|
|
rs1457929029 CA403731842 |
874 | T>A | No |
ClinGen gnomAD |
|
|
CA304998108 rs762417931 |
874 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158843 rs762417931 |
874 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158830 rs752609847 |
876 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA9158829 rs767293038 |
878 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1599912644 CA403731797 |
879 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 880 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751395908 CA9158827 |
882 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs766015470 CA403731747 |
885 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766015470 CA9158826 |
885 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403731729 rs1191805942 |
887 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 888 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868290967 CA304998050 |
888 | G>D | No |
ClinGen Ensembl |
|
|
rs1308543487 CA403731716 |
888 | G>S | No |
ClinGen gnomAD |
|
|
CA403731698 rs1465523619 |
890 | R>C | No |
ClinGen gnomAD |
|
|
rs992594180 CA403731681 |
891 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9158824 rs772716760 |
892 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs764655780 CA9158823 |
893 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA403731634 rs1271488358 |
896 | R>C | No |
ClinGen gnomAD |
|
|
rs1179304551 CA403731632 |
896 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1179304551 CA403731631 |
896 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403731626 rs1251970687 |
897 | G>S | No |
ClinGen gnomAD |
|
|
CA403731593 rs1254585256 |
899 | G>D | No |
ClinGen gnomAD |
|
|
CA9158820 rs769330237 |
899 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1351928513 CA403731586 |
900 | D>Y | No |
ClinGen TOPMed |
|
|
CA9158818 rs776059662 |
901 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287961920 CA403731572 |
901 | L>S | No |
ClinGen gnomAD |
|
|
rs1352384751 CA403731563 |
902 | A>T | No |
ClinGen gnomAD |
|
|
rs1485632314 CA403731549 |
903 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 905 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403731528 rs1187996623 |
905 | K>R | No |
ClinGen TOPMed |
|
|
rs1395341830 CA403731512 |
907 | G>S | No |
ClinGen gnomAD |
|
|
CA9158816 rs746093528 |
908 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1304313943 CA403731502 |
908 | G>S | No |
ClinGen gnomAD |
|
|
CA9158814 rs757307710 |
911 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA403731471 rs1458527657 |
911 | L>V | No |
ClinGen gnomAD |
|
|
CA9158813 rs375507542 |
912 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375507542 CA9158812 |
912 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754974610 CA403731457 |
913 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158811 rs754974610 |
913 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158809 rs371111771 |
914 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1599912229 CA403731447 |
914 | S>R | No |
ClinGen Ensembl |
|
|
rs371111771 CA9158810 |
914 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA304998017 rs1015223351 |
916 | G>D | No |
ClinGen gnomAD |
|
|
CA9158807 rs764993365 |
916 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9158806 rs764993365 |
916 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs952254808 CA304998014 |
917 | D>G | No |
ClinGen TOPMed |
|
|
CA304998015 rs1005137511 |
917 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA403731416 rs1005137511 |
917 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs868125995 CA304998010 |
919 | L>M | No |
ClinGen Ensembl |
|
| TCGA novel | 920 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347729316 CA403731380 |
921 | K>E | No |
ClinGen TOPMed |
|
|
rs764689325 CA9158804 |
922 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304998008 rs993875729 |
922 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs764689325 CA9158803 |
922 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200369684 CA9158781 CA403731344 |
924 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1223339928 CA403731343 |
925 | P>A | No |
ClinGen gnomAD |
|
|
rs774844121 CA9158778 |
926 | T>A | No |
ClinGen ExAC |
|
|
rs771044972 CA9158777 |
926 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA9158776 rs375609608 |
927 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9158774 rs200871128 |
929 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403731318 rs200871128 |
929 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs908733774 CA304997736 |
931 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs746897022 CA403731307 |
931 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158773 rs746897022 |
931 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403731304 rs908733774 |
931 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9158772 rs779938821 |
932 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs201645601 CA9158771 |
933 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745641070 CA9158770 |
934 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158768 rs778786394 |
936 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403731276 rs778786394 |
936 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 937 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9158764 rs755664368 |
940 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1487940586 CA403731248 |
941 | A>T | No |
ClinGen TOPMed |
|
|
CA304997714 rs754757548 |
943 | T>A | No |
ClinGen gnomAD |
|
|
CA9158760 rs751812345 |
944 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA9158761 rs760147193 |
944 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766767699 CA403731228 |
945 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs766767699 CA9158759 |
945 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1277590617 CA403731224 |
945 | A>V | No |
ClinGen gnomAD |
|
|
rs1346503900 CA403731215 |
947 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 947 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763040772 CA9158758 |
948 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 948 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770047632 CA403731194 |
949 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs770047632 CA9158756 |
949 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9158757 rs773442534 |
949 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA403731200 rs773442534 |
949 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9158755 rs761880127 |
950 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA403731186 rs201618281 |
950 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201618281 CA403731188 |
950 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201618281 CA9158754 |
950 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1167388209 CA403731178 |
951 | R>K | No |
ClinGen TOPMed |
|
|
rs1167388209 CA403731176 |
951 | R>T | No |
ClinGen TOPMed |
|
|
rs201832487 CA9158740 |
954 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9158739 RCV000955029 rs201832487 |
954 | D>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA403730220 rs1394207116 |
955 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9158738 rs765435992 |
956 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158737 rs762039671 |
956 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1568328870 CA403730197 |
959 | P>L | No |
ClinGen Ensembl |
|
|
CA9158735 rs776630100 |
959 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
VAR_056179 CA9158734 rs2288411 |
960 | P>L | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA403730196 rs1463217992 |
960 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403730183 rs1216132400 |
962 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 964 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs555693888 CA403730164 |
965 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9158733 rs759344792 |
965 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs555693888 CA9158732 |
965 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA304993294 rs967230317 |
966 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403730150 rs1228135451 |
968 | P>S | No |
ClinGen gnomAD |
|
|
rs200159025 CA9158730 |
971 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 973 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1349342368 CA403730109 |
974 | G>E | No |
ClinGen gnomAD |
|
|
rs1431814696 CA403730112 |
974 | G>R | No |
ClinGen gnomAD |
|
|
CA403730105 CA403730106 rs1406960408 |
975 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403730100 rs1599902885 |
976 | G>S | No |
ClinGen Ensembl |
|
|
rs1447417569 CA403730084 |
978 | H>R | No |
ClinGen gnomAD |
|
|
rs747807146 CA9158727 |
981 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs754535521 CA9158726 |
982 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158724 rs780576676 |
982 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158723 rs780576676 |
982 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754535521 CA9158725 |
982 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223152230 CA403730058 |
983 | G>D | No |
ClinGen gnomAD |
|
|
rs1041231591 CA304993276 |
983 | G>S | No |
ClinGen TOPMed |
|
|
rs750731175 CA9158721 |
984 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA304993273 rs942932058 |
984 | P>S | No |
ClinGen TOPMed |
|
|
rs570160376 CA304993269 |
985 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570160376 CA9158720 |
985 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1298242220 CA403730020 |
987 | T>A | No |
ClinGen gnomAD |
|
|
rs549991223 CA304993265 |
988 | S>P | No |
ClinGen 1000Genomes |
|
| TCGA novel | 989 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403729954 rs1470651579 |
992 | S>R | No |
ClinGen gnomAD |
|
|
CA403729949 rs1367186215 |
993 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403729947 rs1367186215 |
993 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1273083369 CA403729938 |
994 | R>* | No |
ClinGen gnomAD |
|
|
CA9158717 rs764273527 |
994 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1400726405 CA403729928 |
995 | P>L | No |
ClinGen TOPMed |
|
|
rs1180881221 CA403729929 |
995 | P>S | No |
ClinGen gnomAD |
|
|
CA9158716 rs775501333 |
996 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376454294 CA403729918 |
996 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9158714 rs376454294 |
996 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9158715 rs775501333 |
996 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158712 rs773074453 |
998 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199971487 CA9158711 |
998 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403729898 rs199971487 |
998 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368617557 CA9158710 |
999 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA403729887 rs368617557 |
999 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768230288 CA9158708 |
1001 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910231638 CA304993249 |
1002 | E>G | No |
ClinGen Ensembl |
|
|
rs1199926848 CA403729841 |
1003 | H>Y | No |
ClinGen TOPMed |
|
|
CA403729826 rs377201964 |
1004 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9158707 rs377201964 |
1004 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs549007882 CA9158705 |
1008 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1008 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424534565 CA403729775 |
1010 | V>M | No |
ClinGen Ensembl |
|
|
CA9158702 rs757596507 |
1015 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403729740 rs1253396663 |
1015 | M>V | No |
ClinGen gnomAD |
|
|
rs374018985 CA9158700 |
1017 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9158679 rs752892354 |
1018 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374131881 CA403729709 |
1018 | M>L | No |
ClinGen gnomAD |
|
|
CA403729697 rs1423774120 |
1019 | Q>H | No |
ClinGen gnomAD |
|
|
rs781372539 CA9158678 |
1019 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9158677 rs55920976 |
1021 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751725183 CA9158676 |
1022 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000827077 CA9158675 rs765257989 |
1022 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs761711607 CA9158674 |
1023 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9158673 rs201982814 |
1024 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200864651 CA9158670 |
1027 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760329455 CA9158671 |
1027 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1246432366 CA403729616 |
1028 | P>S | No |
ClinGen gnomAD |
|
|
CA403729600 rs1362989886 |
1029 | V>G | No |
ClinGen TOPMed |
|
|
CA403729596 rs1364266402 |
1030 | P>A | No |
ClinGen gnomAD |
|
|
rs1364266402 CA403729595 |
1030 | P>T | No |
ClinGen gnomAD |
|
|
CA403729564 rs1318093849 |
1033 | G>D | No |
ClinGen gnomAD |
|
|
rs372927680 CA9158668 |
1034 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372927680 CA9158667 |
1034 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs771367474 CA9158666 |
1035 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs749762149 CA9158665 |
1036 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9158663 rs199886043 |
1037 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9158662 rs187667984 |
1038 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1206822285 CA403729501 |
1039 | P>L | No |
ClinGen TOPMed |
|
|
rs537987379 CA9158659 |
1040 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158660 rs781530064 |
1040 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA304993152 rs977760440 |
1042 | H>R | No |
ClinGen TOPMed |
|
|
CA403729463 rs1209334245 |
1043 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA403729468 rs1262461645 |
1043 | G>S | No |
ClinGen gnomAD |
|
|
rs753745875 CA403729453 |
1044 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs753745875 CA9158655 |
1044 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs184540632 CA9158656 |
1044 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403729450 rs1341157371 |
1045 | R>G | No |
ClinGen gnomAD |
|
|
CA403729447 rs1187385418 |
1045 | R>K | No |
ClinGen TOPMed |
|
|
rs191981941 CA9158651 |
1047 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9158652 rs752555964 |
1047 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA403729386 rs1305469268 |
1050 | Y>* | No |
ClinGen gnomAD |
|
|
CA403729397 rs1366965506 |
1050 | Y>H | No |
ClinGen gnomAD |
|
|
CA9158649 rs201640620 |
1051 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9158648 rs765836759 |
1053 | V>M | Variant assessed as Somatic; 4.645e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763467764 CA9158647 |
1054 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1203015580 CA403729350 |
1054 | G>R | No |
ClinGen gnomAD |
|
|
CA403729316 rs1373863890 |
1057 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9158644 rs748515052 |
1059 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9158643 rs777191777 |
1061 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs199953551 CA304993088 |
1063 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199953551 CA9158641 |
1063 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199953551 CA9158642 RCV000827657 |
1063 | N>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs376380813 CA9158639 |
1064 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1230673883 CA403729177 |
1065 | N>D | No |
ClinGen gnomAD |
|
|
CA9158636 rs756138370 |
1066 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777571005 CA9158637 |
1066 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA403729116 rs1350427254 |
1067 | V>F | No |
ClinGen gnomAD |
|
|
CA403729122 rs1350427254 |
1067 | V>I | No |
ClinGen gnomAD |
|
|
CA9158634 rs767302243 |
1068 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1431657549 CA403729092 |
1068 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9158633 rs754582807 |
1071 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9158631 rs766100873 |
1072 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs764738737 CA9158607 |
1075 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1352048983 CA403728675 |
1075 | P>L | No |
ClinGen gnomAD |
|
|
rs370292190 CA9158606 |
1076 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA403728573 rs1337614857 |
1079 | W>* | No |
ClinGen gnomAD |
|
|
CA403728526 rs1434702052 |
1081 | G>A | No |
ClinGen gnomAD |
|
|
rs367568601 CA9158601 |
1082 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9158602 rs774252995 |
1082 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781073533 CA9158600 |
1084 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403728473 rs1385677024 |
1085 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9158598 rs768646479 |
1085 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1090 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9158597 rs746766742 |
1090 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA403728349 rs1243285099 |
1091 | P>L | No |
ClinGen gnomAD |
|
|
rs757920201 CA9158595 |
1093 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA403728285 rs1362004539 |
1095 | V>E | No |
ClinGen gnomAD |
|
|
rs932000722 CA304992534 |
1095 | V>M | No |
ClinGen gnomAD |
|
|
rs778479659 CA9158593 |
1096 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756797956 CA9158592 |
1098 | I>L | No |
ClinGen ExAC gnomAD |
1 associated diseases with O00160
Without disease ID
6 regional properties for O00160
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| binding_site | IQ motif, EF-hand binding site | 697 - 722 | IPR000048 |
| domain | SH3 domain | 1041 - 1098 | IPR001452 |
| domain | Myosin head, motor domain | 11 - 691 | IPR001609 |
| domain | Class I myosin tail homology domain | 717 - 917 | IPR010926 |
| domain | Unconventional myosin-Ie/If, SH3 domain | 1045 - 1097 | IPR035507 |
| domain | Class I myosin, motor domain | 31 - 677 | IPR036072 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| microvillus | Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| unconventional myosin complex | A portmanteau term for myosins other than myosin II. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| microfilament motor activity | A motor activity that generates movement along a microfilament, driven by ATP hydrolysis. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
| vesicle transport along actin filament | Movement of a vesicle along an actin filament, mediated by motor proteins. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P36006 | MYO3 | Myosin-3 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q12965 | MYO1E | Unconventional myosin-Ie | Homo sapiens (Human) | PR |
| B0I1T2 | MYO1G | Unconventional myosin-Ig | Homo sapiens (Human) | PR |
| Q9UM54 | MYO6 | Unconventional myosin-VI | Homo sapiens (Human) | EV |
| Q9Y4I1 | MYO5A | Unconventional myosin-Va | Homo sapiens (Human) | SS |
| Q9NQX4 | MYO5C | Unconventional myosin-Vc | Homo sapiens (Human) | SS |
| Q9ULV0 | MYO5B | Unconventional myosin-Vb | Homo sapiens (Human) | SS |
| E9Q634 | Myo1e | Unconventional myosin-Ie | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSKERFHWQ | SHNVKQSGVD | DMVLLPQITE | DAIAANLRKR | FMDDYIFTYI | GSVLISVNPF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KQMPYFTDRE | IDLYQGAAQY | ENPPHIYALT | DNMYRNMLID | CENQCVIISG | ESGAGKTVAA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KYIMGYISKV | SGGGEKVQHV | KDIILQSNPL | LEAFGNAKTV | RNNNSSRFGK | YFEIQFSRGG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EPDGGKISNF | LLEKSRVVMQ | NENERNFHIY | YQLLEGASQE | QRQNLGLMTP | DYYYYLNQSD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TYQVDGTDDR | SDFGETLSAM | QVIGIPPSIQ | QLVLQLVAGI | LHLGNISFCE | DGNYARVESV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DLLAFPAYLL | GIDSGRLQEK | LTSRKMDSRW | GGRSESINVT | LNVEQAAYTR | DALAKGLYAR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LFDFLVEAIN | RAMQKPQEEY | SIGVLDIYGF | EIFQKNGFEQ | FCINFVNEKL | QQIFIELTLK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AEQEEYVQEG | IRWTPIQYFN | NKVVCDLIEN | KLSPPGIMSV | LDDVCATMHA | TGGGADQTLL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QKLQAAVGTH | EHFNSWSAGF | VIHHYAGKVS | YDVSGFCERN | RDVLFSDLIE | LMQTSEQAFL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RMLFPEKLDG | DKKGRPSTAG | SKIKKQANDL | VATLMRCTPH | YIRCIKPNET | KRPRDWEENR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VKHQVEYLGL | KENIRVRRAG | FAYRRQFAKF | LQRYAILTPE | TWPRWRGDER | QGVQHLLRAV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NMEPDQYQMG | STKVFVKNPE | SLFLLEEVRE | RKFDGFARTI | QKAWRRHVAV | RKYEEMREEA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SNILLNKKER | RRNSINRNFV | GDYLGLEERP | ELRQFLGKRE | RVDFADSVTK | YDRRFKPIKR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DLILTPKCVY | VIGREKVKKG | PEKGQVCEVL | KKKVDIQALR | GVSLSTRQDD | FFILQEDAAD |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SFLESVFKTE | FVSLLCKRFE | EATRRPLPLT | FSDTLQFRVK | KEGWGGGGTR | SVTFSRGFGD |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LAVLKVGGRT | LTVSVGDGLP | KSSKPTRKGM | AKGKPRRSSQ | APTRAAPAPP | RGMDRNGVPP |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SARGGPLPLE | IMSGGGTHRP | PRGPPSTSLG | ASRRPRARPP | SEHNTEFLNV | PDQGMAGMQR |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| KRSVGQRPVP | GVGRPKPQPR | THGPRCRALY | QYVGQDVDEL | SFNVNEVIEI | LMEDPSGWWK |
| 1090 | |||||
| GRLHGQEGLF | PGNYVEKI |