Q6UXY8
PR
Gene name |
TMC5 (UNQ8238/PRO33604) |
Protein name |
Transmembrane channel-like protein 5 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79838 |
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 Q6UXY8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6UXY8-F1 | Predicted | AlphaFoldDB |
831 variants for Q6UXY8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA278743624 rs866857816 |
3 | A>V | No |
ClinGen Ensembl |
|
|
rs770948815 CA7933955 |
4 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs566556735 CA7933958 |
5 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746959377 CA7933957 |
5 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566556735 CA7933959 |
5 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746959377 CA394919661 |
5 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278743659 rs952039940 |
6 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs370451908 CA7933960 |
6 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394919670 rs1374478658 |
7 | N>D | No |
ClinGen gnomAD |
|
|
CA394919676 rs1225886048 |
7 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394919705 rs1466937480 |
10 | S>F | No |
ClinGen gnomAD |
|
|
rs1287240050 CA394919706 |
11 | E>K | No |
ClinGen gnomAD |
|
|
rs533927536 CA278743661 |
13 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394919760 rs1213700087 |
14 | P>R | No |
ClinGen gnomAD |
|
|
rs1006247634 CA278743669 |
17 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7933963 rs762597444 |
18 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1233425618 CA394919822 |
19 | Y>C | No |
ClinGen gnomAD |
|
|
CA394919823 rs1233425618 |
19 | Y>F | No |
ClinGen gnomAD |
|
|
CA394919815 rs1302605402 |
19 | Y>N | No |
ClinGen gnomAD |
|
|
CA7933964 rs146537276 |
20 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760101744 CA7933966 |
21 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7933965 rs751054468 |
21 | G>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 22 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3772148 CA7933967 rs767981243 |
23 | Q>K | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs756493316 CA394919881 |
25 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM3361662 CA7933970 rs567263952 |
25 | R>H | kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7933969 rs756493316 |
25 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA7933971 rs192263908 |
26 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1444761675 CA394919902 |
27 | Q>* | No |
ClinGen gnomAD |
|
|
rs745942427 CA394919916 |
28 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7933974 rs745942427 |
28 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208416710 CA394919921 |
29 | Y>H | No |
ClinGen TOPMed |
|
|
rs1233504526 CA394919957 |
31 | K>N | No |
ClinGen gnomAD |
|
|
CA394919964 rs1327146932 |
32 | T>S | No |
ClinGen TOPMed |
|
|
rs1237254389 CA394919967 |
33 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs114077533 CA7933977 |
34 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7933976 rs781296966 |
34 | G>R | No |
ClinGen ExAC |
|
|
CA7933978 rs769477220 |
35 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1207690251 CA394920022 |
39 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs772999897 CA7933979 |
39 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs368835325 CA278743784 |
40 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7933981 rs368835325 |
40 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773890211 CA394920041 |
41 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7933982 rs773890211 |
41 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs372162376 CA7933985 |
45 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA278743793 rs1047859177 |
46 | D>H | No |
ClinGen Ensembl |
|
|
CA394920103 rs1312403620 |
47 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1597171357 CA394920109 |
47 | Y>S | No |
ClinGen Ensembl |
|
|
CA394920117 rs1232306562 |
48 | P>S | No |
ClinGen gnomAD |
|
|
CA7933988 rs754219323 |
49 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7933987 rs200488065 |
49 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394920141 rs1415825621 |
50 | T>S | No |
ClinGen gnomAD |
|
|
rs202022776 CA7933991 |
53 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7933990 rs765470045 |
53 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1171336806 CA394920187 |
54 | P>L | No |
ClinGen TOPMed |
|
|
rs935069109 CA278743846 |
54 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 55 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA278743859 rs267604431 |
56 | S>F | No |
ClinGen Ensembl |
|
|
CA7933992 rs758577651 |
56 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1279577455 CA394920217 |
57 | V>I | No |
ClinGen gnomAD |
|
|
CA7933995 rs756062548 |
59 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 61 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201217836 CA7933997 |
62 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749105293 CA7933998 |
62 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394920329 rs1250162294 |
63 | P>R | No |
ClinGen TOPMed |
|
|
rs368906409 CA278743915 |
63 | P>T | No |
ClinGen ESP TOPMed |
|
|
rs1476468091 CA394920363 |
65 | Y>F | No |
ClinGen gnomAD |
|
|
rs1172280684 CA394920377 |
66 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 66 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774006049 CA7934000 |
67 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278743933 rs1001468963 |
68 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA394920466 rs1217466388 |
71 | E>K | No |
ClinGen TOPMed |
|
|
CA278743938 rs184954993 |
72 | P>A | No |
ClinGen 1000Genomes |
|
|
CA394920502 rs1349761220 |
72 | P>L | No |
ClinGen TOPMed |
|
|
rs1303934454 CA394920533 |
74 | Y>F | No |
ClinGen TOPMed |
|
|
CA394920553 rs1227437569 |
75 | P>L | No |
ClinGen TOPMed |
|
|
CA394920557 rs1381292074 |
76 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1050664953 CA278743945 |
79 | S>G | No |
ClinGen TOPMed |
|
|
CA394920658 rs1433960927 |
81 | P>L | No |
ClinGen gnomAD |
|
|
CA278743951 rs866022120 |
81 | P>S | No |
ClinGen Ensembl |
|
|
CA394920648 rs866022120 |
81 | P>T | No |
ClinGen Ensembl |
|
|
rs759625575 CA7934002 |
83 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774931297 COSM702596 CA7934003 |
84 | S>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1430733381 CA394920694 |
84 | S>P | No |
ClinGen TOPMed |
|
|
CA394920757 rs1358135556 |
87 | R>S | No |
ClinGen TOPMed |
|
|
CA7934004 rs761132988 |
88 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA394920777 rs1332755304 |
89 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA394920793 rs1236133280 |
89 | N>K | No |
ClinGen gnomAD |
|
|
CA7934005 rs202096050 |
89 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7934006 rs776923541 |
91 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA394920847 rs1376319609 |
92 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394920888 rs765635364 |
94 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7934008 rs765635364 |
94 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750709912 CA7934009 |
95 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1463793805 CA394920921 |
96 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 98 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597171568 CA394920944 |
98 | S>N | No |
ClinGen Ensembl |
|
|
CA394920964 rs1252872732 |
99 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs758647211 CA7934010 |
100 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs573992769 CA7934011 |
101 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751629887 CA7934012 |
103 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA7934013 rs756075034 |
106 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA394921044 rs756075034 |
106 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs749122486 CA7934015 |
109 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7934016 rs749122486 |
109 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA7934018 rs745540455 |
110 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA394921118 rs1400191370 |
111 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs765358725 CA278744107 |
111 | S>I | No |
ClinGen Ensembl |
|
|
CA394921193 rs1204104760 |
115 | S>T | No |
ClinGen TOPMed |
|
|
CA394921201 rs1555480987 |
116 | H>Y | No |
ClinGen Ensembl |
|
|
rs771688359 COSM471400 CA7934020 |
117 | P>S | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs775019283 CA7934021 |
119 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968463227 CA278744124 |
120 | R>* | No |
ClinGen TOPMed |
|
|
rs746520627 CA7934022 |
120 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7934023 rs769097072 |
121 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211823418 CA394921293 |
122 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394921324 rs1272613841 |
124 | R>T | No |
ClinGen gnomAD |
|
|
rs186911680 CA7934025 |
126 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373116969 CA7934024 |
126 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200392049 CA7934026 |
127 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763309330 CA7934028 |
130 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA394921476 rs1428217886 |
131 | S>F | No |
ClinGen TOPMed |
|
|
CA394921481 rs1365115065 |
132 | Q>K | No |
ClinGen gnomAD |
|
|
rs376637338 CA7934029 |
133 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369805960 CA7934030 COSM967855 |
133 | R>Q | endometrium Variant assessed as Somatic; 4.64e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs910922768 CA278744174 |
135 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA278744170 rs267604432 |
135 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs267604432 CA7934031 |
135 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs767430337 CA7934032 |
136 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1296358927 CA394921548 |
136 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 138 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394921592 rs1391717524 |
138 | A>T | No |
ClinGen gnomAD |
|
|
CA278744182 rs969004745 |
138 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 139 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775972607 CA278744187 |
139 | G>D | No |
ClinGen Ensembl |
|
|
CA7934033 rs373330053 |
140 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7934036 rs750186180 |
141 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7934035 rs778726454 |
141 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7934037 rs758111222 |
143 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs779739651 CA7934038 |
144 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1250089567 CA394921662 |
144 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 146 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1039289369 CA278744208 |
148 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 150 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394921773 rs1257421212 |
155 | H>Q | No |
ClinGen gnomAD |
|
|
CA278744223 rs148290322 |
155 | H>Y | No |
ClinGen Ensembl |
|
|
rs1474468030 CA394921795 |
157 | G>A | No |
ClinGen gnomAD |
|
|
rs748742122 CA394921806 |
158 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA7934043 rs748742122 |
158 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7934042 rs748742122 |
158 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs763397362 CA7934045 COSM3402122 |
161 | P>L | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1475873771 CA394921837 |
161 | P>T | No |
ClinGen gnomAD |
|
|
rs774637721 CA7934047 |
163 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA394921879 rs1373363181 |
164 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA394921882 rs1373363181 |
164 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1413993148 CA394921891 |
165 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA394921896 rs867036990 |
166 | A>P | No |
ClinGen Ensembl |
|
|
CA278744302 rs867036990 |
166 | A>S | No |
ClinGen Ensembl |
|
|
CA7934048 rs759637345 |
167 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767657069 CA394921957 |
171 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767657069 CA7934049 |
171 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394921971 rs1430727490 |
172 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752695985 CA7934050 |
173 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs752695985 CA394921985 |
173 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7934052 rs201262832 |
175 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377531984 CA7934053 |
175 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201262832 CA7934051 |
175 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1277441339 CA394922005 |
176 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394922009 rs1484881021 |
176 | R>T | No |
ClinGen gnomAD |
|
|
CA278744368 rs763493185 |
181 | H>N | No |
ClinGen TOPMed |
|
|
CA278744375 rs763493185 |
181 | H>Y | No |
ClinGen TOPMed |
|
|
rs758199363 CA7934054 |
184 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM258192 rs931698158 CA278744382 |
186 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs779644339 CA7934055 |
186 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7934057 rs751251353 |
187 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368975328 CA278744402 |
187 | N>K | No |
ClinGen gnomAD |
|
|
CA7934059 rs370224630 |
190 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA394922228 rs1433828363 |
191 | T>A | No |
ClinGen gnomAD |
|
|
CA7934060 rs747660268 |
191 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 194 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770483697 CA7934061 |
197 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs144612537 CA7934064 |
198 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778439547 CA7934062 |
198 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
COSM3690686 CA7934065 rs774529822 |
199 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs746148670 CA394922474 |
200 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746148670 CA7934066 |
200 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7934068 rs199797778 |
201 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7934067 rs377544565 |
201 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199797778 CA7934069 |
201 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764099702 CA7934070 |
202 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs766248822 CA7934073 |
206 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs751284405 CA7934074 |
207 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278744527 rs868457577 |
209 | G>D | No |
ClinGen Ensembl |
|
|
CA7934077 rs752341612 |
210 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs865935324 CA278744584 |
214 | P>L | No |
ClinGen gnomAD |
|
|
rs865935324 CA394922907 |
214 | P>R | No |
ClinGen gnomAD |
|
|
CA7934079 rs777378248 |
218 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs749835232 CA7934080 |
218 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA278744615 rs751894668 |
219 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 220 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 220 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394923044 rs1322650058 |
220 | F>L | No |
ClinGen gnomAD |
|
|
CA394923041 rs1215239828 |
220 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 221 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746212735 CA7934083 |
222 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772394226 CA7934084 |
223 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772394226 CA394923109 |
223 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775700467 CA7934085 |
224 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA7934087 rs199675706 |
227 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1194904446 CA394923277 |
230 | D>N | No |
ClinGen gnomAD |
|
|
rs776674953 CA7934088 |
231 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs765956672 CA278744669 |
232 | Q>L | No |
ClinGen Ensembl |
|
|
rs762922378 CA7934089 |
233 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs894577152 CA278744677 |
235 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 236 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1021796637 CA278744706 |
237 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA394923432 rs1021796637 |
237 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1248430598 CA394923461 |
238 | W>R | No |
ClinGen gnomAD |
|
|
CA7934091 rs368925671 |
240 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1176437237 CA394923557 |
241 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs977608882 CA278744728 |
242 | D>H | No |
ClinGen TOPMed |
|
|
rs1407444374 CA394923587 |
242 | D>V | No |
ClinGen gnomAD |
|
|
rs759263508 CA7934092 |
243 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394923609 rs1415084193 |
243 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1392368874 CA394923645 |
245 | D>E | No |
ClinGen gnomAD |
|
|
rs1161723046 CA394923643 |
245 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 245 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394923654 rs1455430410 |
246 | A>G | No |
ClinGen TOPMed |
|
|
rs767276984 CA7934093 |
247 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA278744764 rs879065842 |
249 | G>D | No |
ClinGen gnomAD |
|
|
CA7934094 rs752429521 |
249 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 249 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597172130 CA394923708 COSM1608988 |
250 | H>R | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs868458948 CA278744766 |
251 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7934096 rs763744834 |
254 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs76412911 CA278744793 |
256 | E>* | No |
ClinGen Ensembl |
|
|
CA394923792 rs1279356326 |
257 | T>I | No |
ClinGen gnomAD |
|
|
CA7934097 rs549401664 |
258 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA278744812 rs895766804 |
259 | K>* | No |
ClinGen Ensembl |
|
|
rs571200475 CA7934098 |
261 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs868146610 CA278744827 |
262 | R>N | No |
ClinGen Ensembl |
|
|
CA7934100 rs184466930 |
262 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1291882855 CA394923882 |
263 | G>W | No |
ClinGen gnomAD |
|
|
rs755254311 CA7934122 |
268 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278747270 rs912304499 |
269 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA394925819 rs1310633724 |
269 | S>P | No |
ClinGen gnomAD |
|
|
rs748337405 CA7934126 |
272 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7934127 rs769797147 |
273 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs942558971 CA278747292 |
273 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394925917 rs1445300926 |
274 | S>P | No |
ClinGen gnomAD |
|
|
CA7934128 rs267604433 |
276 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM164953 rs376177908 CA7934129 |
276 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs748499846 CA278747303 |
278 | R>K | No |
ClinGen Ensembl |
|
|
CA7934131 rs775491832 |
281 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 281 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394926041 rs760532022 |
282 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760532022 CA7934132 |
282 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7934136 rs115989381 CA7934135 |
283 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs115989381 CA7934134 |
283 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1399546011 CA394926056 |
285 | S>G | No |
ClinGen gnomAD |
|
|
CA7934137 rs72785308 |
285 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA278747341 rs72785308 |
285 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7934138 rs72785308 |
285 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1378087375 CA394926074 |
287 | W>* | No |
ClinGen gnomAD |
|
|
CA394926070 rs1302634752 |
287 | W>S | No |
ClinGen gnomAD |
|
| rs770349191 | 289 | E>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA278747380 rs897261862 |
293 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 295 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA278747384 rs905256690 |
297 | E>Q | No |
ClinGen TOPMed |
|
|
CA394926152 rs1235177323 |
298 | M>I | No |
ClinGen gnomAD |
|
|
CA278747396 rs375812914 |
299 | A>P | No |
ClinGen ESP TOPMed |
|
|
rs1567305066 CA394926160 |
300 | S>A | No |
ClinGen Ensembl |
|
|
rs1336870038 CA394926183 |
301 | M>I | No |
ClinGen TOPMed |
|
|
rs1208118742 CA394926197 |
302 | E>G | No |
ClinGen gnomAD |
|
|
rs373225519 CA7934142 |
302 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394926237 rs1268834785 |
304 | A>V | No |
ClinGen gnomAD |
|
|
rs1466362279 CA394926257 |
306 | S>P | No |
ClinGen gnomAD |
|
|
rs1212330859 CA394926274 |
307 | Y>C | No |
ClinGen gnomAD |
|
|
CA7934144 rs377325174 |
308 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7934143 rs767830574 |
308 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394926303 rs1469297572 |
309 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs199800779 CA7934146 |
310 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777754687 CA7934147 |
311 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1459463066 CA394926330 |
312 | P>T | No |
ClinGen gnomAD |
|
|
CA7934149 rs758466006 |
313 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1326618948 CA394926356 |
314 | A>G | No |
ClinGen gnomAD |
|
|
rs1388223984 CA394926352 |
314 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394927410 rs1341842368 |
321 | N>S | No |
ClinGen gnomAD |
|
|
rs919967065 CA278750801 |
322 | P>S | No |
ClinGen TOPMed |
|
|
VAR_057285 rs16972013 CA7934170 |
328 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs780919439 CA7934171 |
329 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs995327376 CA278750832 |
331 | V>I | No |
ClinGen Ensembl |
|
|
rs995327376 CA394927549 |
331 | V>L | No |
ClinGen Ensembl |
|
|
CA394927567 rs1425079078 |
332 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7934174 rs772924516 |
334 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1297558491 CA394927610 |
335 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs770451801 CA7934176 |
336 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7934177 rs773828934 |
338 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394927651 rs1373461235 |
338 | P>R | No |
ClinGen gnomAD |
|
|
rs773828934 CA7934178 |
338 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394927645 rs773828934 |
338 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412472732 CA394927681 |
341 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs959149916 CA278750859 |
342 | C>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394927703 rs1166345852 |
342 | C>Y | No |
ClinGen TOPMed |
|
|
rs775775339 CA7934180 |
344 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs761112224 CA7934181 |
345 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs764297977 CA7934182 |
347 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229515959 CA394927788 |
348 | P>L | No |
ClinGen gnomAD |
|
|
rs754140703 CA7934183 |
348 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA7934184 rs537235570 |
349 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394927804 rs1400925983 |
350 | G>R | No |
ClinGen gnomAD |
|
|
CA278757665 rs962165812 |
351 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7934281 rs779288159 |
353 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA278757671 rs111497192 |
354 | I>V | No |
ClinGen Ensembl |
|
|
CA7934283 VAR_061850 rs36019638 |
355 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs780171162 CA7934284 |
357 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA7934285 rs747076217 |
359 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA278757707 rs920660246 |
360 | M>I | No |
ClinGen gnomAD |
|
|
rs980036137 CA278757702 |
360 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA278757697 rs980036137 |
360 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394932128 rs1348870606 |
366 | I>V | No |
ClinGen gnomAD |
|
|
rs773056920 CA7934287 |
367 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278757718 rs1055797239 |
373 | P>Q | No |
ClinGen Ensembl |
|
|
rs1422996241 CA394932308 |
375 | T>I | No |
ClinGen gnomAD |
|
|
CA7934289 rs770684918 |
376 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs915839289 CA394932324 |
376 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA278757731 rs915839289 |
376 | M>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 378 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs936125550 CA278757744 |
378 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394932373 rs1271966968 |
378 | E>K | No |
ClinGen gnomAD |
|
|
rs936125550 CA394932384 |
378 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1300226987 CA394932401 |
379 | K>E | No |
ClinGen gnomAD |
|
|
rs142366138 CA7934290 |
380 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1567312095 CA394932482 |
381 | N>H | No |
ClinGen Ensembl |
|
|
CA278757787 rs913419336 |
381 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7934292 rs767266067 |
381 | N>S | No |
ClinGen ExAC |
|
|
CA7934318 rs766683029 |
385 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 387 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394933527 rs1397146555 |
387 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 388 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163084419 CA394933582 |
389 | E>D | No |
ClinGen TOPMed |
|
|
CA394933576 rs1390218867 |
389 | E>G | No |
ClinGen TOPMed |
|
|
CA278759495 rs376797194 |
390 | K>* | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 390 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394933612 rs1287152129 |
391 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 391 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350613964 CA394933649 |
392 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 393 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334008968 CA394933703 |
395 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7934319 rs200495961 |
396 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7934320 rs200495961 |
396 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7934321 rs539245207 |
396 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539245207 CA278759525 |
396 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1292704427 CA394933767 |
398 | L>P | No |
ClinGen gnomAD |
|
|
rs748245755 CA7934322 |
398 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1309619989 CA394933797 |
400 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394933834 rs1180379244 |
402 | C>G | No |
ClinGen gnomAD |
|
|
CA278759541 rs926551214 |
403 | C>Y | No |
ClinGen gnomAD |
|
|
rs78879437 CA7934324 |
404 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745762599 CA7934325 |
405 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1056184544 CA278759548 |
406 | C>Y | No |
ClinGen TOPMed |
|
|
rs1567313492 CA394933999 |
410 | I>T | No |
ClinGen Ensembl |
|
|
CA394934014 rs1257570039 |
411 | S>A | No |
ClinGen gnomAD |
|
|
rs114039610 CA7934326 |
411 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7934328 rs201716582 |
412 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763938316 CA7934327 |
412 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs61737709 CA7934347 |
413 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7934349 rs368210991 |
415 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150743118 CA7934348 |
415 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 416 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA278759833 rs1004376325 |
417 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 418 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394934321 rs1597193510 |
419 | N>T | No |
ClinGen Ensembl |
|
|
CA394934349 rs1309554111 |
420 | S>C | No |
ClinGen TOPMed |
|
|
CA394934362 rs1362707736 |
420 | S>R | No |
ClinGen gnomAD |
|
|
CA394934371 rs1227437324 |
421 | L>Q | No |
ClinGen gnomAD |
|
|
CA278759856 rs373505540 |
422 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7934351 rs373505540 |
422 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276552430 CA394934441 |
424 | I>M | No |
ClinGen gnomAD |
|
|
CA7934353 rs372706683 |
424 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150481868 CA7934354 |
426 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767735229 CA7934356 |
428 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394934495 rs1188338803 |
428 | I>M | No |
ClinGen gnomAD |
|
|
CA7934357 rs767735229 |
428 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7934358 rs760955261 |
429 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1476189107 CA394934553 |
430 | L>P | No |
ClinGen gnomAD |
|
|
rs1469889922 CA394934577 |
431 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1178452460 CA394934594 |
433 | K>E | No |
ClinGen gnomAD |
|
|
CA7934360 rs190728673 |
434 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA278759894 rs769127961 |
435 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377526217 CA7934362 |
438 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1250252595 CA394934781 |
444 | T>A | No |
ClinGen TOPMed |
|
|
CA394934800 rs1322858442 |
445 | S>I | No |
ClinGen gnomAD |
|
|
COSM967863 CA7934365 rs199934900 COSM967862 |
446 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA278759976 rs925032633 |
447 | L>F | No |
ClinGen TOPMed |
|
|
CA278759973 rs925032633 |
447 | L>V | No |
ClinGen TOPMed |
|
|
rs747877259 CA7934367 |
448 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394934843 rs1262834577 |
449 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7934368 rs769435307 |
450 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1245802210 CA394934912 |
454 | R>K | No |
ClinGen gnomAD |
|
|
rs748810233 CA7934370 |
457 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA278759990 rs796299627 |
460 | N>H | No |
ClinGen gnomAD |
|
|
rs943104721 CA278759994 |
460 | N>S | No |
ClinGen Ensembl |
|
|
rs1322189125 CA394935006 |
462 | F>C | No |
ClinGen TOPMed |
|
|
rs1456610349 CA394935002 |
462 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774954657 CA7934372 |
463 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA7934373 rs759913307 |
464 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394935022 rs1221812223 |
464 | F>L | No |
ClinGen TOPMed |
|
|
CA278760005 rs866306567 |
465 | I>T | No |
ClinGen TOPMed |
|
|
rs772534758 CA7934375 |
467 | N>T | No |
ClinGen ExAC |
|
|
CA7934376 rs775685183 |
469 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA394935117 rs1327409051 |
471 | I>T | No |
ClinGen TOPMed |
|
|
CA394935154 rs1363668563 |
474 | P>L | No |
ClinGen TOPMed |
|
|
CA7934378 rs764397430 |
478 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3936952 COSM3936953 rs373261054 CA7934380 COSM173955 COSM173954 |
481 | K>N | oesophagus large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 481 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394935252 rs575971732 |
482 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1567313906 CA394935255 |
483 | T>P | No |
ClinGen Ensembl |
|
|
rs754842880 CA7934383 |
484 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA278760056 rs113663280 |
486 | F>L | No |
ClinGen TOPMed |
|
|
CA7934384 rs781109957 |
487 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370266528 CA7934386 |
490 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370266528 CA278760060 |
490 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145505872 CA7934388 |
495 | V>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA7934414 rs745353357 |
500 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs757863556 CA7934415 |
501 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA7934417 rs201340058 |
502 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394936087 rs201340058 |
502 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1336675084 CA394936092 |
503 | M>L | No |
ClinGen gnomAD |
|
|
rs1336675084 CA394936091 |
503 | M>V | No |
ClinGen gnomAD |
|
|
CA394936104 rs1383938489 |
504 | Y>N | No |
ClinGen gnomAD |
|
| TCGA novel | 506 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7934419 rs777112016 |
506 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7934420 rs748449691 |
508 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs748449691 CA394936150 |
508 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1342088988 CA394936164 |
509 | T>A | No |
ClinGen gnomAD |
|
|
rs1436183544 CA394936169 |
509 | T>I | No |
ClinGen TOPMed |
|
|
CA394936203 rs1202909052 |
512 | T>I | No |
ClinGen gnomAD |
|
|
rs1597197135 CA394936195 |
512 | T>P | No |
ClinGen Ensembl |
|
|
rs865977677 CA278767289 |
514 | Q>H | No |
ClinGen Ensembl |
|
|
rs773427498 CA394936238 |
515 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA394936245 rs1186461728 |
516 | G>A | No |
ClinGen gnomAD |
|
|
rs372077333 CA7934423 |
516 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147747960 CA278767294 |
517 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7934424 rs766446786 |
518 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394936272 rs775432690 |
518 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760586337 CA394936284 CA7934426 |
519 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142604406 CA7934427 |
520 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1464635367 CA394936302 |
520 | A>S | No |
ClinGen gnomAD |
|
|
rs1464635367 CA394936298 |
520 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753623746 CA7934428 |
521 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1455104565 CA394936341 |
522 | Y>C | No |
ClinGen gnomAD |
|
|
CA7934429 rs756989647 |
523 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 524 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764806686 CA7934430 |
524 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA394936392 rs1382417400 |
525 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA394936390 rs1382417400 |
525 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs750021639 CA7934431 |
526 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1309897483 CA394936425 |
528 | Y>H | No |
ClinGen gnomAD |
|
|
CA394936447 rs1263621170 |
529 | I>S | No |
ClinGen gnomAD |
|
|
rs1222383166 CA394936444 |
529 | I>V | No |
ClinGen gnomAD |
|
|
rs757877398 CA7934432 |
531 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs757877398 CA394936476 |
531 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA394936487 rs1206820849 |
532 | I>T | No |
ClinGen gnomAD |
|
|
CA7934434 rs200661492 |
533 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7934435 rs755508129 |
534 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA394936498 rs1187289697 |
534 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394936517 rs1479464263 |
535 | C>* | No |
ClinGen gnomAD |
|
|
rs1430152159 CA394936551 |
538 | T>N | No |
ClinGen gnomAD |
|
|
CA394936564 rs1471223126 |
539 | C>S | No |
ClinGen gnomAD |
|
|
rs781729249 CA7934437 |
545 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7934454 rs144904444 |
547 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394937268 rs1181606215 |
547 | M>T | No |
ClinGen TOPMed |
|
|
rs760717138 CA7934457 |
549 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278769426 rs933851223 |
550 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM1708812 COSM1708813 rs753207644 CA7934459 |
552 | R>Q | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs374091052 CA7934461 |
555 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1490842130 CA394937357 |
556 | I>T | No |
ClinGen gnomAD |
|
|
rs1202541782 CA394937364 |
557 | N>Y | No |
ClinGen gnomAD |
|
|
CA7934462 rs749516730 |
558 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs749516730 CA394937385 |
558 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7934463 rs771140416 |
559 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7934464 rs779020423 |
562 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs889721509 CA278769457 |
562 | S>C | No |
ClinGen TOPMed |
|
|
CA394937443 rs371305899 |
563 | G>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA394937448 rs1163748944 |
563 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA278769464 rs371305899 |
563 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA278769468 rs867467014 |
564 | G>E | No |
ClinGen Ensembl |
|
|
CA7934465 rs745958108 |
566 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7934467 rs776576990 |
569 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs761760257 CA7934468 |
570 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA394937570 rs1334633717 |
573 | D>A | No |
ClinGen gnomAD |
|
|
rs769526043 CA7934469 |
579 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA278769484 rs140303599 |
583 | K>E | No |
ClinGen ESP |
|
|
CA394937791 rs1362223865 |
584 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1597200926 CA394937876 |
588 | N>H | No |
ClinGen Ensembl |
|
|
COSM1740300 rs145413285 CA7934476 COSM1740301 |
588 | N>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs926385839 CA278769499 |
591 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1241837677 CA394937945 |
591 | T>I | No |
ClinGen gnomAD |
|
|
CA278769505 rs994265460 |
593 | I>V | No |
ClinGen TOPMed |
|
|
rs201005235 CA7934477 |
594 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs939078269 CA278769509 |
594 | R>T | No |
ClinGen gnomAD |
|
|
rs761147236 CA7934496 |
595 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs551531661 CA394938483 |
600 | L>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1351357135 CA394938479 |
600 | L>I | No |
ClinGen TOPMed |
|
|
rs551531661 CA278771445 |
600 | L>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA7934497 rs112279462 |
601 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM182458 rs141710338 CA7934498 COSM182459 |
601 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs936645593 CA278771463 |
603 | E>G | No |
ClinGen Ensembl |
|
|
CA7934500 rs201843133 |
607 | L>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs8060130 CA7934501 |
608 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394938554 rs1204933215 |
611 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 611 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394938575 rs1413926393 |
614 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1597203542 CA394938570 |
614 | T>P | No |
ClinGen Ensembl |
|
|
CA7934504 rs142693954 |
615 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369956293 CA7934505 |
615 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs757296264 CA278771510 |
617 | S>C | No |
ClinGen Ensembl |
|
|
rs777798492 CA7934506 |
618 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs1480493103 CA394938605 |
619 | Y>* | No |
ClinGen gnomAD |
|
|
rs200596133 CA394938606 |
620 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394938608 rs1362004272 |
620 | M>R | No |
ClinGen gnomAD |
|
|
CA7934507 rs200596133 |
620 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394938618 rs1469613883 |
621 | V>A | No |
ClinGen gnomAD |
|
|
rs1241620498 CA394938615 |
621 | V>L | No |
ClinGen TOPMed |
|
|
rs146026607 CA7934508 |
622 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487271927 CA394938634 |
624 | V>I | No |
ClinGen TOPMed |
|
|
rs774260564 CA7934509 |
625 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs374628141 CA7934510 |
626 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771746289 CA7934511 |
628 | G>A | No |
ClinGen ExAC gnomAD |
|
|
COSM3817397 COSM3817396 rs1301548231 CA394938656 |
628 | G>R | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1334495884 CA394938668 |
630 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs774944819 CA7934512 |
631 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277032692 CA394938682 |
632 | A>D | No |
ClinGen TOPMed |
|
|
rs1397515937 CA394938687 |
633 | C>G | No |
ClinGen TOPMed |
|
|
CA7934514 rs763468243 |
637 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs536675824 CA7934515 |
638 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs893608125 CA278771598 |
638 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA394938756 rs1447905647 |
641 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 641 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138412954 CA278771613 |
642 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA278771620 rs1009490882 |
643 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7934516 rs762285251 |
644 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs142982513 COSM107246 CA278771653 |
646 | E>K | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| rs1468760332 | 647 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394939634 rs1384049735 |
650 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1384049735 CA394939629 |
650 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7934542 rs752815889 |
652 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs950877471 CA278773587 |
652 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs756207588 CA7934543 |
654 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs778995543 CA7934544 |
656 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7934546 rs758231421 |
658 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA394939805 rs1474284806 |
659 | L>S | No |
ClinGen Ensembl |
|
|
rs914684230 CA278773624 |
660 | L>R | No |
ClinGen TOPMed |
|
|
CA394939847 rs1259926319 |
662 | F>S | No |
ClinGen gnomAD |
|
|
rs192944117 CA7934550 |
663 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192944117 CA7934549 |
663 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1567319397 CA394939891 |
666 | C>S | No |
ClinGen Ensembl |
|
|
rs144497844 CA278773661 |
667 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA394939913 rs769255282 |
668 | N>I | No |
ClinGen ExAC TOPMed |
|
|
rs769255282 CA7934552 |
668 | N>S | No |
ClinGen ExAC TOPMed |
|
|
rs376121238 CA7934555 |
670 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA278773700 rs58685557 |
671 | V>E | No |
ClinGen Ensembl |
|
|
CA7934557 rs759865087 |
671 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7934558 rs767867644 |
672 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7934559 rs775791900 |
673 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA394939993 rs1362919441 |
674 | I>T | No |
ClinGen TOPMed |
|
|
CA7934563 rs536320155 |
677 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7934562 rs750420247 |
677 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs764219237 CA7934561 |
677 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213404182 CA394940050 |
678 | F>I | No |
ClinGen gnomAD |
|
|
CA7934564 rs200735779 |
679 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1412005096 CA394940105 |
681 | V>M | No |
ClinGen TOPMed |
|
|
CA278773741 rs928609573 |
683 | R>S | No |
ClinGen Ensembl |
|
|
rs751298783 CA7934565 |
684 | Y>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 685 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767192302 CA7934567 |
685 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs371374512 CA7934568 |
686 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7934570 rs144008850 |
688 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7934569 rs199903798 |
688 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749874573 CA7934571 |
689 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs887564506 CA278773786 |
689 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA278773806 CA394940277 rs773265756 |
690 | E>D | No |
ClinGen gnomAD |
|
|
rs201778492 CA7934573 COSM1686230 COSM1686231 |
690 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs201085859 CA394940310 |
693 | V>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA278773823 rs201085859 |
693 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs201085859 CA394940309 |
693 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA394940317 rs1363123140 |
694 | L>I | No |
ClinGen gnomAD |
|
|
rs1567319562 CA394940339 |
696 | I>F | No |
ClinGen Ensembl |
|
|
rs200385991 CA7934577 |
697 | R>* | Variant assessed as Somatic; 0.0001389 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7934578 rs201796464 |
697 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 698 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 699 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs567067723 CA7934606 |
702 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394941524 rs1381832522 |
704 | S>* | No |
ClinGen gnomAD |
|
|
CA7934607 rs763661327 |
704 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 705 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571146176 CA7934608 |
705 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394941538 rs1597208294 |
706 | I>L | No |
ClinGen Ensembl |
|
|
rs756743579 CA7934609 |
706 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA394941554 rs778459658 |
707 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7934610 rs778459658 |
707 | G>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3690804 rs987638905 COSM3690803 CA278776598 |
711 | Y>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA7934612 rs758966786 |
711 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394941595 rs758966786 |
711 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 713 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7934613 rs537835708 |
714 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA278776601 rs537835708 |
714 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394941635 rs1210298790 |
715 | N>D | No |
ClinGen gnomAD |
|
|
CA7934615 rs769075056 |
717 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1423766901 CA394941669 |
718 | A>P | No |
ClinGen gnomAD |
|
|
CA394941674 rs1478748974 |
718 | A>V | No |
ClinGen gnomAD |
|
|
CA394941691 rs1405032739 |
720 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748380613 CA7934617 |
721 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA394941699 rs748380613 |
721 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA394941713 rs1335035810 |
723 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 724 | C>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200358813 CA7934630 |
724 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA278778133 rs1027370909 |
727 | T>I | No |
ClinGen TOPMed |
|
|
rs145641220 CA7934631 |
729 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394941921 rs1567322004 |
730 | G>S | No |
ClinGen Ensembl |
|
|
CA394941959 rs1475027717 |
732 | D>Y | No |
ClinGen TOPMed |
|
|
CA621236618 rs1331027166 |
734 | Y>* | No |
ClinGen gnomAD |
|
|
CA394942014 rs201640346 |
735 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748385734 CA7934634 |
735 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201640346 CA7934633 |
735 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756348846 CA7934635 |
736 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA278778184 rs969659312 |
737 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1443032010 CA394942068 |
738 | L>P | No |
ClinGen TOPMed |
|
|
CA7934638 rs770960643 |
739 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1267644168 CA394942087 |
740 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7934639 rs775432891 |
740 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 741 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs982354097 CA278778226 |
741 | F>S | No |
ClinGen TOPMed |
|
|
CA394942161 rs1452081483 |
744 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394942184 rs1200980137 |
745 | L>F | No |
ClinGen gnomAD |
|
|
CA7934640 rs201645334 |
747 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7934641 rs201645334 |
747 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394942232 rs1158209907 |
748 | S>C | No |
ClinGen gnomAD |
|
|
rs1381134501 CA394942241 |
749 | F>Y | No |
ClinGen gnomAD |
|
|
rs369469002 CA7934643 |
752 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776479666 CA7934642 |
752 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7934644 rs764954347 |
753 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7934645 rs772931388 |
755 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA394943182 rs1243956409 |
758 | I>V | No |
ClinGen TOPMed |
|
|
CA394943220 CA394943216 rs1365360080 |
760 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7934660 rs144966031 |
761 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1567322990 CA394943244 |
762 | L>Q | No |
ClinGen Ensembl |
|
|
rs1567322990 CA394943243 |
762 | L>R | No |
ClinGen Ensembl |
|
|
rs776371575 CA7934663 |
764 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776371575 CA7934662 |
764 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465623122 CA394943273 |
765 | S>G | No |
ClinGen gnomAD |
|
|
rs769434176 CA7934664 |
765 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA394943287 rs1300666947 |
766 | L>F | No |
ClinGen gnomAD |
|
|
CA394943303 rs1449957511 |
767 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394943309 rs1327494939 |
768 | L>I | No |
ClinGen gnomAD |
|
|
rs773021330 CA7934666 |
769 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA394943347 rs753262126 |
770 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394943336 rs1267964346 |
770 | E>Q | No |
ClinGen gnomAD |
|
|
rs1271483192 CA394943365 |
772 | D>N | No |
ClinGen TOPMed |
|
|
rs548408948 CA7934670 |
773 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1259695482 CA394943385 |
773 | I>T | No |
ClinGen gnomAD |
|
|
rs548408948 CA7934669 |
773 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 775 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7934672 rs35421097 |
776 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200637158 CA7934673 |
777 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7934674 rs764425171 |
781 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA394943470 rs1189703942 |
781 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754104020 CA7934675 |
782 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs757462962 CA7934676 |
785 | T>I | No |
ClinGen ExAC |
|
| TCGA novel | 786 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200057724 CA7934677 |
787 | V>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1172045469 CA394943533 |
787 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1399400454 CA394944698 |
789 | I>T | No |
ClinGen TOPMed |
|
|
CA7934689 rs74011408 |
792 | F>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7934691 rs776118015 |
797 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs761059584 CA7934692 |
798 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393549659 CA394945507 |
800 | I>T | No |
ClinGen TOPMed |
|
|
CA278784419 rs866326188 |
801 | Q>* | No |
ClinGen Ensembl |
|
|
CA7934693 rs764505161 |
801 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs566023595 CA7934694 |
802 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394945571 rs1353327712 |
803 | I>N | No |
ClinGen gnomAD |
|
|
CA7934696 rs765446582 |
808 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535262712 CA278784441 |
812 | K>R | No |
ClinGen Ensembl |
|
|
rs1597215333 CA394946067 |
815 | S>T | No |
ClinGen Ensembl |
|
|
CA394946100 rs1400781963 |
817 | M>I | No |
ClinGen gnomAD |
|
|
CA278784657 rs984652197 |
817 | M>T | No |
ClinGen TOPMed |
|
|
rs552798789 CA7934720 |
817 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7934721 rs753782576 |
818 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 822 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA278784671 rs970253813 |
822 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs141281985 CA7934722 |
823 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs141281985 CA394946302 |
823 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7934724 rs745604947 |
826 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1196355027 CA394946384 |
826 | A>V | No |
ClinGen TOPMed |
|
|
rs757969590 CA7934725 |
828 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394946431 rs1313580380 COSM967877 COSM967876 |
828 | R>W | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs373006118 CA7934727 |
829 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA278784696 rs866704826 |
832 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7934729 rs777143609 |
833 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA394946556 rs1597215393 |
834 | T>S | No |
ClinGen Ensembl |
|
|
CA7934731 rs770233952 |
835 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs748630520 CA7934730 |
835 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs73542128 CA7934732 |
837 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1052699689 CA278784737 |
837 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 842 | F>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 842 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 844 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575187420 CA7934735 |
845 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 846 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394946970 rs1449196263 |
846 | T>S | No |
ClinGen TOPMed |
|
|
CA394946998 rs1357610932 |
847 | G>E | No |
ClinGen gnomAD |
|
|
CA7934737 COSM1678870 rs746207413 COSM1678869 |
847 | G>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs753869713 CA7934739 |
848 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs945623254 CA278784766 |
851 | T>I | No |
ClinGen Ensembl |
|
|
rs1217266717 CA394947122 |
852 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1318972642 CA394947146 |
853 | A>V | No |
ClinGen gnomAD |
|
|
rs201517116 CA7934742 |
854 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7934743 rs138670843 |
855 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779600782 CA7934744 |
856 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 864 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7934765 rs754619938 |
867 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1361267494 CA394948301 |
868 | F>L | No |
ClinGen gnomAD |
|
|
COSM217095 COSM217094 rs560230921 CA7934766 |
869 | R>* | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 869 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7934767 rs752208363 |
869 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752208363 CA7934768 |
869 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278787252 rs964256444 |
872 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7934770 rs749782994 |
873 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7934771 rs771243051 |
873 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1459829319 CA394948398 |
874 | F>L | No |
ClinGen TOPMed |
|
|
rs1239053524 CA394948409 |
875 | I>T | No |
ClinGen gnomAD |
|
|
rs1233664759 CA394948433 |
876 | H>Y | No |
ClinGen TOPMed |
|
|
rs1157399382 CA394948452 |
877 | S>A | No |
ClinGen gnomAD |
|
|
rs267604435 CA278787270 |
877 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1286032648 CA394948477 |
878 | I>T | No |
ClinGen gnomAD |
|
|
CA7934774 rs772440996 COSM967881 COSM967880 |
883 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA394948593 rs1452155282 |
884 | T>N | No |
ClinGen gnomAD |
|
|
CA394948591 rs1452155282 |
884 | T>S | No |
ClinGen gnomAD |
|
|
rs1469905841 CA394948596 |
885 | L>V | No |
ClinGen gnomAD |
|
|
CA394948632 rs1229988190 |
887 | T>A | No |
ClinGen TOPMed |
|
|
CA7934777 rs760703356 |
888 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775783985 CA7934776 |
888 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438005263 CA394948658 |
889 | P>R | No |
ClinGen gnomAD |
|
|
CA7934778 rs768734894 |
890 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1380957148 CA394948676 |
891 | Y>N | No |
ClinGen gnomAD |
|
| TCGA novel | 898 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1049795647 CA278787296 |
898 | Y>F | No |
ClinGen Ensembl |
|
|
CA7934779 rs773074997 |
898 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs527274612 COSM967883 COSM967882 CA7934781 |
899 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7934780 rs377463683 |
899 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1335006954 CA394948826 |
900 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs751342802 CA7934782 |
901 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1353035215 CA394948870 |
902 | I>F | No |
ClinGen TOPMed |
|
|
CA7934783 rs374724962 |
902 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1336962920 CA394948888 |
903 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1450174474 CA394948908 |
904 | S>N | No |
ClinGen TOPMed |
|
|
CA7934784 rs767187826 |
905 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1283130515 CA394948932 |
906 | H>N | No |
ClinGen gnomAD |
|
|
rs1283130515 CA394948937 |
906 | H>Y | No |
ClinGen gnomAD |
|
|
CA7934786 rs755626960 |
911 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA394949065 rs1236602760 |
913 | L>F | No |
ClinGen gnomAD |
|
|
rs754366926 CA7934789 |
914 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA7934788 rs754366926 |
914 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA7934805 rs760832771 |
917 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs902556045 CA278788234 |
917 | I>V | No |
ClinGen TOPMed |
|
|
rs756757097 CA7934806 |
918 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA394949850 rs1176251330 |
919 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA278788238 rs1023692965 |
920 | Y>F | No |
ClinGen Ensembl |
|
|
CA7934807 rs765880306 |
922 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750914708 CA7934808 |
923 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA278788246 rs866569200 |
928 | G>R | No |
ClinGen Ensembl |
|
|
rs1339755783 CA394950000 |
928 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1022285661 CA278788258 |
930 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 930 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7934809 rs376968471 |
933 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394950090 rs1310222476 |
933 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs780437633 COSM347866 COSM347867 CA7934810 |
934 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1231284093 CA394950097 |
934 | R>T | No |
ClinGen gnomAD |
|
|
rs1348928966 CA394950111 |
936 | L>P | No |
ClinGen gnomAD |
|
|
rs969415954 CA278788285 |
937 | H>P | No |
ClinGen TOPMed |
|
|
CA278788289 rs1003506559 |
937 | H>Q | No |
ClinGen Ensembl |
|
|
rs969415954 CA394950116 |
937 | H>R | No |
ClinGen TOPMed |
|
|
CA7934811 rs747263468 |
937 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567328681 CA394950123 |
938 | E>Q | No |
ClinGen Ensembl |
|
|
rs1597220360 CA394950160 |
941 | I>V | No |
ClinGen Ensembl |
|
|
rs1480417974 CA394950433 |
944 | G>V | No |
ClinGen gnomAD |
|
|
CA278789425 rs201955285 |
946 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 946 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7934831 rs781499805 |
948 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA278789430 rs1016138505 |
951 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 952 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7934833 rs559836452 |
956 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1309333535 CA394950704 |
958 | Q>K | No |
ClinGen gnomAD |
|
|
CA278789441 rs865964000 |
958 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 962 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs542270443 CA7934837 |
966 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs143211025 CA7934838 |
967 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7934839 rs369268664 |
968 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776397319 CA7934840 |
971 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7934842 rs761529950 |
975 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1423113684 CA394950969 |
976 | V>G | No |
ClinGen gnomAD |
|
|
CA278789461 rs945812754 |
976 | V>M | No |
ClinGen gnomAD |
|
|
rs774962500 CA7934865 |
978 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597225540 CA394951852 |
980 | G>A | No |
ClinGen Ensembl |
|
|
rs201597255 CA278791012 |
980 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs906181699 CA278791016 |
982 | L>W | No |
ClinGen Ensembl |
|
|
rs1487235145 CA394951938 |
984 | L>W | No |
ClinGen gnomAD |
|
|
CA394951984 rs1192860675 |
986 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7934866 rs759954350 |
987 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1221293698 CA394952010 |
988 | D>A | No |
ClinGen TOPMed |
|
|
rs1189300773 CA394952006 |
988 | D>Y | No |
ClinGen gnomAD |
|
|
CA7934869 rs373240686 |
989 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394952076 rs1174324935 |
990 | S>I | No |
ClinGen gnomAD |
|
|
CA394952087 rs1597225593 |
991 | L>R | No |
ClinGen Ensembl |
|
|
rs987838076 CA278743516 |
992 | D>E | No |
ClinGen Ensembl |
|
|
rs772570263 CA7934887 |
992 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7934889 rs761046316 |
994 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA7934890 rs141155952 COSM967888 COSM967889 |
994 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA394926204 rs1374262193 |
995 | S>T | No |
ClinGen gnomAD |
|
|
rs776882275 CA7934891 |
995 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs577545075 CA278743544 |
996 | R>K | No |
ClinGen Ensembl |
|
|
CA394926224 rs1228929486 |
997 | R>I | No |
ClinGen TOPMed |
|
|
rs1228929486 CA394926228 |
997 | R>T | No |
ClinGen TOPMed |
|
|
CA278743545 rs753884686 |
999 | V>I | No |
ClinGen Ensembl |
|
|
rs150288299 CA7934893 |
1000 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394926284 rs1468772086 |
1002 | G>R | No |
ClinGen gnomAD |
|
|
CA7934895 rs758438693 |
1005 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767594962 COSM1323685 CA7934896 COSM1323686 |
1006 | A>S | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs181234197 CA7934897 |
1007 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with Q6UXY8
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| integral component of plasma membrane | The component of the plasma 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| mechanosensitive ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens in response to a mechanical stress. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8IU68 | TMC8 | Transmembrane channel-like protein 8 | Homo sapiens (Human) | PR |
| Q7Z402 | TMC7 | Transmembrane channel-like protein 7 | Homo sapiens (Human) | PR |
| Q8TDI8 | TMC1 | Transmembrane channel-like protein 1 | Homo sapiens (Human) | PR |
| Q7Z5M5 | TMC3 | Transmembrane channel-like protein 3 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSAYYRNNWS | EEDPDYPDYS | GSQNRTQGYL | KTQGYPDVPG | PLNNPDYPGT | RSNPYSVASR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TRPDYPGSLA | EPNYPRSLSN | PDYSGTRSNA | YSAASRTSPD | HPTSLPEPDY | SEFQSHPYHR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ASSRQPDYPG | SQRNPDFAGS | SSSGNYAGSR | THPDHFGSLE | PDYPGAQSNS | DHPGPRANLN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HPGSRKNLEH | TSFRINPYAD | SLGKPDYPGA | DIQPNSPPFF | GEPDYPSAED | NQNLPSTWRE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PDYSDAENGH | DYGSSETPKM | TRGVLSRTSS | IQPSFRHRSD | DPVGSLWGEN | DYPEGIEMAS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MEMANSYGHS | LPGAPGSGYV | NPAYVGESGP | VHAYGNPPLS | ECDWHKSPQG | QKLIASLIPM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TSRDRIKAIR | NQPRTMEEKR | NLRKIVDKEK | SKQTHRILQL | NCCIQCLNSI | SRAYRRSKNS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LSEILNSISL | WQKTLKIIGG | KFGTSVLSYF | NFLRWLLKFN | IFSFILNFSF | IIIPQFTVAK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KNTLQFTGLE | FFTGVGYFRD | TVMYYGFYTN | STIQHGNSGA | SYNMQLAYIF | TIGACLTTCF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FSLLFSMAKY | FRNNFINPHI | YSGGITKLIF | CWDFTVTHEK | AVKLKQKNLS | TEIRENLSEL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RQENSKLTFN | QLLTRFSAYM | VAWVVSTGVA | IACCAAVYYL | AEYNLEFLKT | HSNPGAVLLL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PFVVSCINLA | VPCIYSMFRL | VERYEMPRHE | VYVLLIRNIF | LKISIIGILC | YYWLNTVALS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GEECWETLIG | QDIYRLLLMD | FVFSLVNSFL | GEFLRRIIGM | QLITSLGLQE | FDIARNVLEL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| IYAQTLVWIG | IFFCPLLPFI | QMIMLFIMFY | SKNISLMMNF | QPPSKAWRAS | QMMTFFIFLL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| FFPSFTGVLC | TLAITIWRLK | PSADCGPFRG | LPLFIHSIYS | WIDTLSTRPG | YLWVVWIYRN |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LIGSVHFFFI | LTLIVLIITY | LYWQITEGRK | IMIRLLHEQI | INEGKDKMFL | IEKLIKLQDM |
| 970 | 980 | 990 | 1000 | ||
| EKKANPSSLV | LERREVEQQG | FLHLGEHDGS | LDLRSRRSVQ | EGNPRA |