Q4G0N8
PR
Gene name |
SLC9C1 (SLC9A10) |
Protein name |
Sodium/hydrogen exchanger 10 |
Names |
Na(+)/H(+) exchanger 10, NHE-10, Solute carrier family 9 member 10, Solute carrier family 9 member C1, Sperm-specific Na(+)/H(+) exchanger, sNHE |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:285335 |
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 Q4G0N8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q4G0N8-F1 | Predicted | AlphaFoldDB |
961 variants for Q4G0N8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs765105823 CA2538990 |
2 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759227425 CA2538989 |
3 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2538988 rs377149936 |
3 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760319520 CA2538986 |
4 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538985 rs773765117 |
6 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 7 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772497133 CA2538983 |
7 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1367798942 CA353732377 |
7 | E>K | No |
ClinGen gnomAD |
|
|
rs1213184988 CA353732341 |
8 | F>L | No |
ClinGen TOPMed |
|
|
rs1576533487 CA353732354 |
8 | F>V | No |
ClinGen Ensembl |
|
|
rs1559755677 CA353732320 |
9 | F>L | No |
ClinGen Ensembl |
|
| rs749004401 | 10 | F>S | Variant assessed as Somatic; 4.649e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 11 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749004401 | 11 | S>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs564192675 CA2538980 |
12 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353732275 rs1156295904 |
12 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA353732279 rs1156295904 |
12 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 13 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA80533975 rs907603864 |
14 | D>E | No |
ClinGen Ensembl |
|
|
rs1454942742 CA353732223 |
17 | E>K | No |
ClinGen gnomAD |
|
|
rs774538109 CA353732209 |
18 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538979 rs774538109 |
18 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353732189 rs1198549655 |
20 | L>R | No |
ClinGen gnomAD |
|
|
rs560235771 CA2538978 |
21 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2538977 rs148114043 |
23 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275583502 CA353732152 |
24 | L>S | No |
ClinGen gnomAD |
|
|
rs778972288 CA2538952 |
31 | F>I | No |
ClinGen ExAC |
|
|
rs778972288 CA353731218 |
31 | F>L | No |
ClinGen ExAC |
|
|
CA2538950 rs753726324 |
34 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754816914 CA2538951 |
34 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2538949 rs528974870 |
41 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 42 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2538948 rs755780868 |
43 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA353730861 rs1409331056 |
46 | I>K | No |
ClinGen TOPMed gnomAD |
|
|
CA353730858 rs1409331056 |
46 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs758465218 CA2538945 |
47 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2538944 rs761443395 |
48 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1450250376 CA353730777 |
49 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs752001066 CA2538943 |
50 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2538942 rs764621695 |
50 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1462745902 CA353730739 |
53 | S>G | No |
ClinGen gnomAD |
|
|
CA80529499 rs1049550585 |
53 | S>T | No |
ClinGen TOPMed |
|
|
CA2538941 rs763279481 |
56 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA353730640 rs1436594854 |
58 | S>N | No |
ClinGen gnomAD |
|
|
CA80529477 rs748229692 |
59 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1275475448 CA353730623 |
59 | F>V | No |
ClinGen gnomAD |
|
|
rs200711528 CA2538939 |
60 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776928579 CA2538937 |
61 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2538936 rs770906016 |
63 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs891122568 CA353730557 |
63 | Q>H | No |
ClinGen TOPMed |
|
|
rs1247134928 CA353729721 |
67 | Y>C | No |
ClinGen TOPMed |
|
|
CA2538918 rs566504224 |
68 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
COSM1036370 rs753209894 CA2538919 |
68 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs180906401 CA353729681 |
69 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2538916 COSM72723 rs776718397 |
70 | A>T | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA80528570 rs900324554 |
71 | I>V | No |
ClinGen Ensembl |
|
|
CA80528562 rs766665435 |
72 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766665435 CA2538915 |
72 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353729590 rs1391430999 |
73 | W>C | No |
ClinGen TOPMed |
|
| TCGA novel | 74 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2538914 rs760649339 |
75 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA353729543 rs1158461788 |
76 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353729467 rs1410759395 |
79 | F>L | No |
ClinGen gnomAD |
|
|
rs1480408920 CA353729434 |
80 | F>C | No |
ClinGen gnomAD |
|
|
rs773377848 CA2538912 |
80 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA2538911 COSM3408137 rs749177716 |
81 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs202015970 CA2538908 |
81 | R>H | Variant assessed as Somatic; 0.0002329 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2538909 rs202015970 |
81 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
TCGA novel CA2538910 rs749177716 |
81 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353729385 rs1265720853 |
82 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs745711101 CA2538907 |
82 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2538906 rs780682423 |
83 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA353729350 rs1314575810 |
84 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1242664338 CA353729338 |
85 | P>S | No |
ClinGen TOPMed |
|
|
CA2538904 rs746692629 |
87 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1228875078 CA353729279 |
87 | V>F | No |
ClinGen gnomAD |
|
|
CA2538902 rs777200721 |
90 | T>A | No |
ClinGen ExAC TOPMed |
|
|
CA2538901 rs142430077 |
90 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353729176 rs1388361574 |
91 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs368310641 CA2538900 |
91 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1288550440 CA353729070 |
94 | D>G | No |
ClinGen gnomAD |
|
|
rs1221563655 CA353729054 |
95 | M>V | No |
ClinGen gnomAD |
|
|
CA353729025 rs1428923379 |
96 | D>H | No |
ClinGen gnomAD |
|
|
rs765800521 CA353728991 |
97 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765800521 CA2538899 |
97 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538895 rs760914626 |
99 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2538896 rs766679401 |
99 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA353728903 rs1201882433 |
101 | Q>R | No |
ClinGen TOPMed |
|
|
CA2538894 rs773579831 |
102 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA353728858 rs1261515320 |
104 | F>L | No |
ClinGen gnomAD |
|
|
rs1483544519 CA353728554 |
110 | I>F | No |
ClinGen gnomAD |
|
|
CA80527949 COSM1616721 rs1055128521 |
111 | S>L | liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs776449068 CA2538871 |
113 | P>H | No |
ClinGen ExAC gnomAD |
|
|
COSM1226593 rs760531143 CA2538869 |
114 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA80527924 rs929477638 |
116 | L>W | No |
ClinGen TOPMed |
|
|
CA2538866 rs771765799 |
117 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2538865 rs747824553 |
118 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs921470685 CA80527917 |
119 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs921470685 CA353728303 |
119 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA353728256 rs778449361 |
120 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1473824335 CA353728237 |
120 | I>N | No |
ClinGen gnomAD |
|
|
rs778449361 CA2538864 |
120 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1296800925 CA353728163 COSM1036368 |
123 | L>I | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1413348007 CA353728105 |
125 | H>Q | No |
ClinGen gnomAD |
|
|
rs147025372 CA80527903 |
125 | H>R | No |
ClinGen ESP TOPMed |
|
|
CA353728045 rs1181543531 |
129 | V>A | No |
ClinGen gnomAD |
|
|
CA2538861 rs749787154 |
131 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538860 rs780490122 |
131 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA353727797 rs756512244 |
136 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538859 rs756512244 |
136 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538858 rs750863337 |
137 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs781706858 CA353727768 |
137 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781706858 CA2538857 |
137 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs976779668 CA80527849 |
138 | Q>* | No |
ClinGen Ensembl |
|
|
rs191870124 CA2538855 |
139 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs191870124 CA353727716 |
139 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353727623 rs1194062182 |
142 | F>S | No |
ClinGen TOPMed |
|
|
CA2538854 rs764174959 |
144 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM323458 CA2538853 rs763003593 |
145 | I>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA353727533 rs1221952429 |
145 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2538852 rs753811423 |
147 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372930925 CA2538850 |
148 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2538849 rs372930925 |
148 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353727381 rs1335667492 |
149 | S>* | No |
ClinGen gnomAD |
|
|
CA353727412 rs1277588434 |
149 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1268761261 CA353727291 |
152 | M>I | No |
ClinGen gnomAD |
|
|
rs1412257498 CA353727296 |
152 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs369591814 COSM3380335 CA80527800 |
155 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA353727202 rs1285482391 |
156 | A>T | No |
ClinGen gnomAD |
|
|
rs1423530120 CA353727192 |
156 | A>V | Variant assessed as Somatic; 0.00014 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1391209987 CA353727190 |
157 | A>T | No |
ClinGen TOPMed |
|
|
CA2538845 rs9828502 |
158 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_033324 CA2538844 rs9828502 |
158 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs376210708 CA2538843 |
160 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 160 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 161 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559743068 CA353726302 |
163 | L>F | No |
ClinGen Ensembl |
|
|
rs1199786481 CA353726292 |
164 | S>P | No |
ClinGen gnomAD |
|
|
CA2538819 rs145349422 |
168 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1030451711 CA80526107 |
169 | S>G | No |
ClinGen TOPMed |
|
|
CA353726197 rs1559743014 |
169 | S>N | No |
ClinGen Ensembl |
|
|
rs1263114573 CA353726170 |
171 | I>T | No |
ClinGen gnomAD |
|
|
rs758501269 CA2538817 |
171 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2538815 rs374237193 |
173 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2538816 rs748437801 |
173 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1228400131 CA353726098 |
174 | E>D | No |
ClinGen gnomAD |
|
|
CA2538814 rs755066589 |
175 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs369639106 CA2538813 |
175 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2538811 rs538333731 |
176 | L>R | No |
ClinGen 1000Genomes ExAC |
|
|
CA353726023 rs1576502734 |
178 | T>N | No |
ClinGen Ensembl |
|
|
rs1576502720 CA353726013 |
179 | S>C | No |
ClinGen Ensembl |
|
|
CA2538809 rs751260025 |
180 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1402183362 CA353725994 |
182 | S>P | No |
ClinGen TOPMed |
|
|
CA2538807 rs762447116 |
183 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2538806 rs569135047 |
185 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2538805 rs548520404 |
187 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA80526047 rs931482885 |
187 | T>S | No |
ClinGen Ensembl |
|
|
CA2538803 rs146458999 |
188 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771392119 CA2538801 |
190 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538802 rs777248905 |
190 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143974577 CA2538800 |
191 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1242641697 CA353725736 |
194 | Q>E | No |
ClinGen gnomAD |
|
|
rs1366422204 CA353725731 |
194 | Q>R | No |
ClinGen gnomAD |
|
|
rs1208577800 CA353725708 |
195 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA80526005 rs879161819 |
196 | L>V | No |
ClinGen gnomAD |
|
|
rs773412838 CA2538799 |
200 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1340993749 CA353725528 |
201 | N>K | No |
ClinGen gnomAD |
|
|
rs772494247 CA2538798 |
201 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353725526 rs1319006255 |
202 | H>N | No |
ClinGen TOPMed |
|
|
rs768688963 CA2538796 |
202 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139072859 CA2538797 |
202 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2538794 rs28413123 RCV000950106 |
203 | T>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1283107986 CA353725450 |
204 | L>S | No |
ClinGen gnomAD |
|
|
rs937946751 CA80525980 |
205 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs769929472 CA2538772 |
205 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA353724423 rs1162743969 |
208 | I>T | No |
ClinGen gnomAD |
|
|
COSM1036366 CA2538769 rs758098372 |
209 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2538768 rs752591057 |
210 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2538767 rs778873102 |
217 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA353724198 rs1483169025 |
218 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2538766 rs545677231 |
219 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2538765 rs753549253 |
219 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs765753085 CA2538764 |
222 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 226 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 229 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289970654 CA353723854 |
231 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1289970654 CA353723851 |
231 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA353723785 rs1370349736 |
233 | W>C | No |
ClinGen gnomAD |
|
|
CA80523060 rs371705215 COSM1566347 |
234 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA2538761 rs768115452 |
234 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1417779 CA2538762 rs750893553 |
234 | M>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs900039564 CA80523058 |
235 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1435813653 CA353723709 |
236 | T>A | No |
ClinGen gnomAD |
|
|
CA353723691 rs1158530464 |
236 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs562921175 CA2538759 |
237 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 238 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353723453 rs1160330749 |
240 | D>V | No |
ClinGen gnomAD |
|
|
rs1480335212 CA353723406 |
242 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs774203232 CA2538757 |
243 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769756228 CA2538755 |
245 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1170299368 CA2538753 |
246 | S>N | No |
ClinGen TOPMed |
|
|
CA353723063 COSM1036365 rs1269984477 |
252 | L>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs984748347 CA80523009 |
253 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2538751 rs773003335 |
253 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs141841950 CA2538749 |
254 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141841950 CA2538750 |
254 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353722909 rs1351194888 |
256 | F>V | No |
ClinGen TOPMed |
|
| TCGA novel | 259 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748940005 CA2538743 |
259 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779825526 CA2538742 |
262 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs892233963 CA80521032 |
264 | M>I | No |
ClinGen Ensembl |
|
|
rs540118464 CA80521030 |
265 | S>* | No |
ClinGen 1000Genomes |
|
|
CA353721579 rs1209220172 |
265 | S>P | No |
ClinGen gnomAD |
|
|
CA80521029 rs1052234874 |
267 | I>V | No |
ClinGen Ensembl |
|
|
CA353721430 rs1254027284 |
270 | L>P | No |
ClinGen gnomAD |
|
|
CA80521027 rs753468374 |
271 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 274 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473424883 CA353721213 |
278 | N>K | No |
ClinGen TOPMed |
|
|
rs1226499633 CA353721182 |
279 | S>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 282 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 282 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA80521026 rs866264503 |
284 | A>E | No |
ClinGen Ensembl |
|
|
CA353720906 rs9872691 |
286 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353720895 rs1298440088 |
286 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA353720890 rs1298440088 |
286 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
VAR_033325 rs9872691 CA2538739 |
286 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 288 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs566524557 CA80521005 |
288 | E>G | No |
ClinGen Ensembl |
|
|
CA80521004 rs906440677 |
289 | T>I | No |
ClinGen Ensembl |
|
|
CA353720749 rs1395886636 |
291 | L>F | No |
ClinGen gnomAD |
|
|
CA353720446 rs1246087031 |
296 | T>I | No |
ClinGen gnomAD |
|
|
CA2538711 rs368111838 |
300 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1632716 rs201401597 CA2538710 |
300 | R>H | Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs201401597 CA80520001 |
300 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA80519996 rs1047496521 |
302 | A>S | No |
ClinGen Ensembl |
|
|
rs760908345 CA2538709 |
304 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538707 rs768766333 |
305 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs762827345 CA2538706 |
307 | F>L | No |
ClinGen ExAC |
|
|
CA353720270 rs1294776620 |
309 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1156646671 CA353720208 |
311 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA353720119 rs200736579 |
315 | P>A | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 315 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA80519983 rs200736579 |
315 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1203461436 CA353720085 |
317 | H>Y | No |
ClinGen TOPMed |
|
|
CA353720062 rs1364188422 |
318 | T>A | No |
ClinGen gnomAD |
|
|
CA80519976 rs1033643743 |
318 | T>K | No |
ClinGen Ensembl |
|
|
rs780887811 CA2538702 |
322 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1269557369 CA353719937 COSM1036362 |
323 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs746570207 CA2538701 |
326 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353719856 rs1464827594 |
326 | D>G | No |
ClinGen gnomAD |
|
|
CA80519968 rs943248212 |
326 | D>H | No |
ClinGen Ensembl |
|
|
CA2538699 rs777286625 |
327 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1576475402 CA353719818 |
328 | Y>H | No |
ClinGen Ensembl |
|
|
rs779280371 CA2538697 |
329 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779280371 CA2538696 COSM1670428 |
329 | Y>S | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA353719732 rs1231985942 |
330 | S>L | No |
ClinGen gnomAD |
|
|
CA80519910 rs13065525 |
331 | L>F | No |
ClinGen Ensembl |
|
|
CA80519930 rs13085338 |
331 | L>I | No |
ClinGen Ensembl |
|
|
rs754088532 CA2538694 |
333 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs754088532 CA2538695 |
333 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs760820077 CA2538692 |
334 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 339 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174439983 CA353718357 |
343 | L>P | No |
ClinGen gnomAD |
|
|
rs1429360111 CA353718344 |
344 | T>P | No |
ClinGen gnomAD |
|
|
CA353718236 rs1406761574 |
347 | L>* | No |
ClinGen TOPMed |
|
|
CA2538675 VAR_033326 rs9809404 |
348 | I>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2538674 rs373379962 |
349 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353718131 rs1185828576 |
349 | S>I | No |
ClinGen gnomAD |
|
|
CA353718135 rs1185828576 |
349 | S>N | No |
ClinGen gnomAD |
|
|
CA2538673 rs767618335 |
349 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2538671 rs757345437 |
350 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs752647464 CA2538670 |
351 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs759540511 CA2538666 |
353 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538664 rs766168178 |
354 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353717988 rs147067402 |
354 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1417778 rs147067402 CA2538663 |
354 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA353717915 rs1313263030 |
356 | G>V | No |
ClinGen gnomAD |
|
|
CA80515993 rs113718773 |
359 | F>L | No |
ClinGen Ensembl |
|
|
rs755144916 CA80515990 |
360 | S>G | No |
ClinGen Ensembl |
|
|
rs747653983 CA2538660 |
362 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747653983 CA2538661 |
362 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774903543 CA2538659 |
362 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353717725 rs9809384 CA353717707 |
364 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749814636 CA2538657 |
364 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs9809384 CA2538658 VAR_050233 |
364 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2538656 rs780504122 |
365 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA2538655 rs756602128 |
366 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA2538654 rs567828070 |
366 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781308642 CA2538653 |
367 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1482513705 CA353717647 |
367 | M>T | No |
ClinGen gnomAD |
|
|
rs1304997408 CA353717630 |
368 | V>A | No |
ClinGen gnomAD |
|
|
CA2538651 rs751544109 |
372 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA353717519 rs9860819 |
373 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754844453 CA2538649 |
374 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs141074336 CA2538648 |
375 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2538647 rs148170229 |
376 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA80515907 rs143746495 |
377 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1349249202 CA353717455 |
378 | I>L | No |
ClinGen TOPMed |
|
|
CA2538646 rs760532874 |
381 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353717292 rs1290419641 |
387 | S>Y | No |
ClinGen TOPMed |
|
|
CA353717266 rs1362381035 |
388 | D>E | No |
ClinGen TOPMed |
|
|
CA2538645 rs148987003 |
391 | F>V | No |
ClinGen ESP ExAC |
|
|
CA2538644 rs767127854 |
392 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1419272948 CA353717165 |
395 | K>* | No |
ClinGen gnomAD |
|
|
rs773698856 CA353717158 |
395 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs773698856 CA2538642 |
395 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 396 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 397 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353717109 rs768221802 |
398 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs768221802 CA2538641 |
398 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2538640 rs369550111 |
399 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA80515865 rs937244378 |
399 | Q>R | No |
ClinGen TOPMed |
|
|
CA353712905 rs1333480004 |
404 | G>A | No |
ClinGen TOPMed |
|
|
rs1156334314 CA353712885 |
405 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA353712896 rs1234710616 |
405 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 407 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353712809 rs1576432398 |
409 | L>P | No |
ClinGen Ensembl |
|
|
CA80506726 rs533300924 |
410 | I>L | No |
ClinGen Ensembl |
|
|
rs755883917 CA2538625 |
410 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2538624 rs376917313 |
413 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2538623 rs376917313 |
413 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2538622 rs369615659 |
414 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262260028 CA353712590 |
417 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 419 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2538621 rs751279671 |
419 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA80506707 rs943325658 |
422 | A>G | No |
ClinGen Ensembl |
|
|
rs975373999 CA80506709 |
422 | A>T | No |
ClinGen Ensembl |
|
|
VAR_033327 rs6768523 CA2538620 |
424 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs762588495 CA2538619 |
425 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA353710804 rs752212987 |
427 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 427 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353712347 rs1460298506 |
427 | G>R | No |
ClinGen gnomAD |
|
|
CA2538601 rs752212987 |
427 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2538600 rs186081653 COSM169817 |
429 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374694708 CA2538599 |
429 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353710763 rs1251415192 |
430 | D>G | No |
ClinGen gnomAD |
|
|
CA353710762 rs1251415192 |
430 | D>V | No |
ClinGen gnomAD |
|
|
CA353710750 rs1481631125 |
431 | A>V | No |
ClinGen gnomAD |
|
|
CA353710738 rs1251979748 |
432 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 433 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353710697 rs1320501037 |
434 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 435 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 435 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2538596 rs761142731 |
436 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2538595 rs773286367 |
437 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs200558686 CA2538594 |
438 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1019725275 CA80504954 |
438 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2538591 rs768777268 |
439 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA80504946 rs1049967139 |
440 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2538590 rs745785946 |
441 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs551283381 CA2538589 |
441 | C>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA80504934 rs200147169 |
443 | F>L | No |
ClinGen Ensembl |
|
|
CA80504930 rs866130135 |
444 | Q>* | No |
ClinGen Ensembl |
|
|
CA2538588 rs144033824 |
444 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746767789 CA2538587 |
446 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353710396 rs1278781402 |
449 | L>I | No |
ClinGen TOPMed |
|
|
rs752411257 CA2538584 |
450 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752411257 CA2538585 |
450 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 452 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs939706195 CA80504889 |
453 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs764826708 CA2538583 |
453 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764826708 CA353710336 |
453 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764826708 CA80504899 |
453 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353710333 rs939706195 |
453 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754270673 CA2538581 |
454 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA353710290 rs1214884170 |
456 | A>T | No |
ClinGen gnomAD |
|
|
CA353710251 rs1488872931 |
458 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2538580 rs766960199 |
458 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 458 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2538579 rs773528476 |
460 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2538578 rs773528476 |
460 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA353710204 rs1469007398 |
461 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 462 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 462 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA80504876 rs748448194 |
464 | A>T | No |
ClinGen Ensembl |
|
|
CA353710115 rs1337226934 |
466 | A>D | No |
ClinGen gnomAD |
|
|
CA353710121 rs1236421021 |
466 | A>S | No |
ClinGen gnomAD |
|
|
CA2538576 rs531199876 |
470 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767876971 CA2538577 |
470 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs774618745 CA2538575 |
471 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1560111424 CA353710040 |
471 | I>V | No |
ClinGen Ensembl |
|
|
rs201515166 CA80504853 |
474 | A>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1461907316 CA353709966 |
474 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2538574 rs768583870 |
477 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1344605363 CA353709785 CA353709787 |
479 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2538573 rs749430774 |
479 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2538572 rs542216811 |
481 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353709698 rs1452600705 |
482 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA80504818 rs879036998 |
482 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 483 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1693200 rs866662848 CA80501621 |
485 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1417490617 CA353707149 |
486 | E>K | No |
ClinGen gnomAD |
|
|
CA353707125 rs1170092218 |
487 | E>Q | No |
ClinGen gnomAD |
|
|
rs773350803 CA2538548 |
488 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1368387937 CA353707098 |
489 | T>A | No |
ClinGen TOPMed |
|
|
CA2538547 rs771961832 |
489 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2538545 rs776640994 |
493 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538544 rs768317449 |
493 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748900743 CA2538543 |
498 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1436664582 CA353706834 |
498 | H>Y | No |
ClinGen gnomAD |
|
|
rs1216248450 CA353706796 |
499 | C>R | No |
ClinGen gnomAD |
|
|
CA2538542 rs779563113 |
500 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1231275379 CA353706720 |
500 | N>K | No |
ClinGen gnomAD |
|
|
rs755641498 CA2538541 |
500 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs368134025 CA80501600 |
501 | K>N | No |
ClinGen gnomAD |
|
|
CA353706607 rs1409462026 |
503 | I>M | No |
ClinGen gnomAD |
|
|
rs1294083627 CA353706613 |
503 | I>T | No |
ClinGen gnomAD |
|
|
CA2538540 rs781698549 |
504 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538539 rs781698549 |
504 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538537 rs751878905 |
508 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311818870 CA353706497 |
508 | N>S | No |
ClinGen TOPMed |
|
|
CA2538536 rs376856365 |
509 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2538535 rs199776585 |
509 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199776585 CA2538534 |
509 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs879843460 CA80501579 |
511 | A>V | No |
ClinGen TOPMed |
|
|
rs1476362885 CA353706404 |
512 | M>R | No |
ClinGen gnomAD |
|
|
CA80501576 rs998044442 |
512 | M>V | No |
ClinGen TOPMed |
|
|
rs765355248 CA2538533 |
514 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1484156877 CA353706360 |
514 | L>P | No |
ClinGen gnomAD |
|
|
CA353706289 rs1484393307 |
517 | R>G | No |
ClinGen TOPMed |
|
|
rs1230660942 CA353706279 |
518 | R>C | No |
ClinGen gnomAD |
|
|
rs183446986 CA2538532 |
518 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs183446986 CA353706276 |
518 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353706263 COSM169669 rs1560099603 |
520 | L>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs772088159 CA2538530 |
521 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353706245 rs1211768017 |
523 | Q>L | No |
ClinGen gnomAD |
|
|
CA353706238 rs1484965501 |
524 | I>T | No |
ClinGen TOPMed |
|
|
CA545506233 rs1560086803 |
527 | Y>* | No |
ClinGen Ensembl |
|
|
rs1347156124 CA353732982 |
533 | N>D | No |
ClinGen gnomAD |
|
|
CA2538508 rs761787595 |
533 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA2538507 rs774216341 |
533 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA353732921 rs1423490212 |
534 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 534 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763949275 CA2538506 |
535 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2538505 COSM201523 rs573499621 |
536 | L>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA353732826 rs1429016887 |
537 | S>P | No |
ClinGen gnomAD |
|
|
CA2538504 rs775372131 |
539 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1394726676 CA353732768 |
539 | S>R | No |
ClinGen gnomAD |
|
|
rs775372131 CA353732775 |
539 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA353732740 rs1393954045 |
541 | V>L | No |
ClinGen gnomAD |
|
|
CA2538501 rs776072507 |
542 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185880868 CA353732635 |
543 | V>A | No |
ClinGen gnomAD |
|
|
CA2538499 rs770478268 |
545 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2538495 rs758776288 |
548 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs748402130 CA2538494 |
549 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA353732489 rs1236637030 |
549 | E>Q | No |
ClinGen gnomAD |
|
|
CA2538493 rs779423598 |
551 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA353732398 rs1213343805 |
552 | G>C | No |
ClinGen gnomAD |
|
|
rs1035730818 CA80557953 |
553 | E>K | No |
ClinGen TOPMed |
|
|
rs539696882 CA2538490 |
556 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353732329 rs1214975997 |
556 | G>R | No |
ClinGen TOPMed |
|
|
rs539696882 CA353732322 |
556 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2538470 rs749486838 |
557 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780485743 CA2538469 |
558 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs756375839 CA2538468 |
558 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538466 rs756375839 |
558 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538464 rs767669354 |
559 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1576367963 CA353731598 |
559 | M>T | No |
ClinGen Ensembl |
|
|
rs572876944 CA2538465 |
559 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538463 rs758222683 |
560 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA353731576 rs1249898489 |
560 | S>R | No |
ClinGen gnomAD |
|
|
rs1271600394 CA353731568 |
561 | L>V | No |
ClinGen TOPMed |
|
|
rs752682486 CA2538462 |
564 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 565 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764986603 CA2538460 |
567 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs192136143 CA2538458 |
570 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1275511505 CA353731393 |
570 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2538456 rs1553796142 |
571 | Q>R | No |
ClinGen Ensembl |
|
|
rs1234733392 CA353731336 |
572 | K>N | No |
ClinGen gnomAD |
|
| rs1560081286 | 573 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765958305 CA2538455 |
574 | V>I | No |
ClinGen ExAC |
|
|
rs760378439 CA2538454 |
577 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763626660 CA80554597 |
578 | R>G | No |
ClinGen Ensembl |
|
|
CA353731248 rs1333630339 |
578 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA353731187 rs200889662 |
581 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2538453 rs200889662 |
581 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1460864022 CA353731177 |
582 | L>P | No |
ClinGen gnomAD |
|
|
CA2538452 rs771632132 |
584 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA2538451 rs762201945 |
585 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769134318 CA80554556 |
586 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775035293 CA2538450 |
586 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA353731056 rs1179967000 |
587 | N>H | No |
ClinGen gnomAD |
|
|
CA353731045 rs1007697804 |
587 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA80554552 rs1007697804 |
587 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA80554541 rs749616537 |
588 | T>I | No |
ClinGen ExAC TOPMed |
|
|
CA2538448 rs749616537 |
588 | T>N | No |
ClinGen ExAC TOPMed |
|
|
rs780573626 CA2538447 |
589 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs769870458 CA2538446 |
590 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1255259671 CA353730933 |
592 | K>* | No |
ClinGen gnomAD |
|
| TCGA novel | 592 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353730871 rs1350442074 |
594 | G>V | No |
ClinGen gnomAD |
|
|
CA80554476 rs757399240 |
595 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 595 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757399240 CA2538443 |
595 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319774408 CA353730853 |
596 | S>P | No |
ClinGen TOPMed |
|
|
CA2538441 rs778879672 |
597 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs753794513 CA2538418 |
601 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538419 rs754869245 |
601 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538417 rs779690767 |
602 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
COSM727243 rs142600000 CA2538415 |
602 | R>H | lung endometrium Variant assessed as Somatic; 5.155e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA353728036 rs1396979479 |
603 | I>V | No |
ClinGen gnomAD |
|
|
CA80547068 rs1053654467 |
604 | C>* | No |
ClinGen Ensembl |
|
|
rs750037086 CA2538414 |
605 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1371690209 CA353727900 |
607 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756980017 CA2538412 |
607 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 610 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353727759 rs1478582319 |
613 | F>Y | No |
ClinGen gnomAD |
|
|
rs989869825 CA80547036 |
615 | H>Q | No |
ClinGen TOPMed |
|
|
CA353727670 rs1263407024 |
616 | V>I | No |
ClinGen gnomAD |
|
|
CA353727518 rs1200950079 |
621 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 623 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763722310 CA2538410 |
623 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA80547025 rs796956466 |
625 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1560067551 CA353727349 |
626 | F>L | No |
ClinGen Ensembl |
|
|
rs867296641 CA80547017 |
627 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2538408 rs148449258 |
628 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs957220125 CA80547013 |
628 | F>I | No |
ClinGen TOPMed |
|
|
CA353727185 rs1377345171 |
631 | S>T | No |
ClinGen gnomAD |
|
|
rs77616628 CA2538407 |
632 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760004235 CA2538406 |
633 | I>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353727142 rs760004235 |
633 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2538405 rs776872549 |
634 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA80546999 rs183205820 |
634 | S>T | No |
ClinGen 1000Genomes |
|
|
rs1466423428 CA353726837 |
638 | V>A | No |
ClinGen gnomAD |
|
|
CA2538404 rs557116736 |
640 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747262383 CA2538403 |
641 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2538402 rs200055695 TCGA novel |
642 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1436753949 CA353726754 |
645 | K>N | No |
ClinGen gnomAD |
|
|
CA2538400 rs749189605 |
648 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353726711 rs1200464948 |
649 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1272386763 CA353726699 |
650 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 651 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353726663 rs1231675113 |
654 | L>F | No |
ClinGen gnomAD |
|
|
CA353726659 rs1231675113 |
654 | L>V | No |
ClinGen gnomAD |
|
|
rs755844903 CA2538398 |
659 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs958849388 CA80546952 |
660 | L>I | No |
ClinGen Ensembl |
|
|
CA353726578 rs1437829036 |
662 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 663 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289027826 CA353725950 |
663 | I>T | No |
ClinGen TOPMed |
|
|
rs772131704 CA2538380 |
663 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1405144645 CA353725940 |
664 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA353725941 rs1405144645 |
664 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA353725913 rs1291445845 |
665 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA353725828 rs1484750007 |
668 | K>E | No |
ClinGen TOPMed |
|
|
rs1394365723 CA353725769 |
671 | F>L | No |
ClinGen gnomAD |
|
| rs761139813 | 672 | S>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 672 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147413171 CA2538375 |
673 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2538374 rs781021983 |
673 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147413171 CA2538376 |
673 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA80544172 rs954377665 |
675 | W>R | No |
ClinGen Ensembl |
|
|
CA2538373 rs73853330 |
676 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA80544160 rs777628996 |
678 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746656940 CA2538372 |
678 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353725576 rs1451994951 |
681 | A>G | No |
ClinGen TOPMed |
|
|
CA2538369 rs752185520 |
682 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758138433 CA2538370 |
682 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1301804738 CA353725529 |
683 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs754350352 CA2538366 |
684 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs755464302 CA2538367 |
684 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs376241633 CA2538365 |
685 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761091286 CA2538364 |
688 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA353725386 rs1299692199 |
690 | V>L | No |
ClinGen gnomAD |
|
|
rs750627620 CA2538363 |
691 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 692 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2538362 rs199814831 |
693 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2538360 rs553608522 |
695 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2538361 rs200340664 |
695 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201680751 CA2538359 |
696 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353725271 rs1270177644 |
696 | D>N | No |
ClinGen gnomAD |
|
|
rs200642998 CA80544090 |
697 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538358 rs200642998 |
697 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353725206 rs1265546877 |
698 | I>M | No |
ClinGen gnomAD |
|
|
CA353725219 rs1474321096 |
698 | I>S | No |
ClinGen gnomAD |
|
|
CA2538357 rs776780113 |
699 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 700 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA80544085 rs1026427045 |
700 | Y>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 702 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2538356 rs746744772 |
704 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538355 rs746744772 |
704 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_033328 rs4434123 CA2538354 |
705 | T>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs4434123 CA353725124 |
705 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353725123 rs4434123 |
705 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2538352 rs747777872 |
706 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295269893 CA353725122 |
706 | E>K | No |
ClinGen gnomAD |
|
|
rs778463600 CA2538351 |
707 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2538350 rs557928066 |
708 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs906522314 CA80544035 |
708 | I>T | No |
ClinGen Ensembl |
|
|
CA80544051 rs557928066 |
708 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2538348 rs754364222 |
709 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2538345 rs756624104 |
711 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs780593355 CA2538346 |
711 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs750714995 CA2538344 |
713 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 716 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2538342 rs762076820 |
718 | R>C | Variant assessed as Somatic; 0.0002479 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs147235362 CA2538341 |
718 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 718 | R>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353724970 rs1475034736 |
719 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1576333718 CA353724953 |
720 | L>P | No |
ClinGen Ensembl |
|
|
rs201512353 CA2538340 |
721 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1161427551 CA353724945 |
721 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs763001898 CA2538339 |
723 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA353724920 rs1483639534 |
723 | F>V | No |
ClinGen gnomAD |
|
|
rs1387715952 CA353724761 |
725 | L>F | No |
ClinGen TOPMed |
|
|
rs1576329281 CA353724746 |
726 | I>V | No |
ClinGen Ensembl |
|
|
rs1439831700 CA353724729 |
728 | P>T | No |
ClinGen gnomAD |
|
|
rs1388327455 CA353724712 |
729 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2538315 rs761570310 |
731 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA353724685 rs6781844 |
732 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353724686 rs6781844 |
732 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_033329 rs6781844 CA2538314 |
732 | Q>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1229972473 CA353724645 |
735 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 736 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156986827 CA353724570 |
739 | S>T | No |
ClinGen gnomAD |
|
|
rs768124152 CA2538313 |
740 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA2538312 rs748967429 |
742 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 745 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774929332 CA2538311 |
753 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs769337285 CA2538310 |
754 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs528228567 CA2538308 |
756 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528228567 COSM247431 CA80542501 |
756 | E>K | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs757797995 CA2538307 |
756 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1560058859 CA353724057 |
757 | A>T | No |
ClinGen Ensembl |
|
|
CA2538305 rs372692839 |
760 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
rs1355260158 CA353723983 |
760 | M>T | No |
ClinGen gnomAD |
|
|
rs747271765 CA2538306 |
760 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559624530 CA2538303 |
761 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353723945 rs1209033165 |
762 | I>L | No |
ClinGen TOPMed |
|
|
rs1233481988 CA353723928 |
762 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA80542473 rs369206409 |
764 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA353723852 rs1466250141 |
765 | Q>H | No |
ClinGen TOPMed |
|
|
CA353723839 rs1303219399 |
766 | I>V | No |
ClinGen gnomAD |
|
|
rs1272779492 CA353723816 |
767 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2538300 rs755173692 |
768 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs9288938 VAR_033330 CA2538299 |
768 | S>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA353723789 rs9288938 |
768 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761811323 CA2538297 |
772 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA353723625 rs1173553073 |
772 | I>N | No |
ClinGen gnomAD |
|
|
CA2538296 rs773974979 |
774 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs375805377 CA80541520 |
775 | M>T | No |
ClinGen ESP |
|
|
rs1310719048 CA353722484 |
778 | K>* | No |
ClinGen TOPMed |
|
|
rs1260595022 CA353722466 |
779 | Q>E | No |
ClinGen TOPMed |
|
|
rs755263705 CA2538281 |
781 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA353722420 rs1413233777 |
781 | I>V | No |
ClinGen gnomAD |
|
|
CA2538279 rs778221593 |
787 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 787 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169503910 CA353722221 |
789 | K>I | No |
ClinGen gnomAD |
|
|
rs1421942713 CA353722188 |
790 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 794 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2538253 rs765039477 |
795 | E>Q | No |
ClinGen ExAC |
|
|
CA2538252 rs759167852 |
796 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1375385643 CA353721696 |
796 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs201824027 CA2538250 COSM3408136 |
799 | P>L | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2538251 rs753568307 |
799 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 800 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA80540370 rs979000357 |
801 | I>T | No |
ClinGen TOPMed |
|
|
rs563051370 CA80540387 |
801 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA2538249 rs140639095 |
804 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2538248 rs772609816 |
804 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195054838 CA353721280 |
807 | T>R | No |
ClinGen TOPMed |
|
|
COSM167266 CA2538245 rs371139214 |
810 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs1173744370 CA353721137 |
812 | N>T | No |
ClinGen TOPMed |
|
|
rs1290644414 CA353721081 |
813 | V>D | No |
ClinGen gnomAD |
|
|
rs1453589990 CA353721101 |
813 | V>I | No |
ClinGen gnomAD |
|
|
CA353721048 rs1576323358 |
814 | M>V | No |
ClinGen Ensembl |
|
|
rs775842322 CA2538242 |
815 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353720929 rs1462396059 |
817 | M>V | No |
ClinGen TOPMed |
|
|
rs76044261 CA353720860 |
819 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs76044261 CA2538241 |
819 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538240 rs781284851 |
820 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs758283358 CA2538238 |
820 | E>G | No |
ClinGen ExAC |
|
|
rs781284851 CA2538239 |
820 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 821 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778648795 CA2538236 |
821 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA2538237 rs368330431 |
821 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754868420 CA2538235 |
822 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs917744690 CA80540213 |
822 | L>R | No |
ClinGen TOPMed |
|
|
rs753417453 CA2538234 |
823 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1232600685 CA353720712 |
824 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA353720692 rs13098660 |
825 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs386664658 CA80540145 |
826 | G>S | No |
ClinGen Ensembl |
|
|
rs28516377 VAR_061369 CA2538231 |
826 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs767153680 CA2538229 |
828 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2538228 rs762384584 |
829 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA353720639 rs1264359963 |
830 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs926516145 CA80540072 |
832 | S>T | No |
ClinGen Ensembl |
|
|
CA353720559 rs1205759747 |
836 | G>D | No |
ClinGen TOPMed |
|
|
rs1309667486 CA353720562 |
836 | G>S | No |
ClinGen TOPMed |
|
|
CA353720552 rs1189294094 |
837 | A>S | No |
ClinGen gnomAD |
|
|
rs996037681 CA80540041 |
838 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2538226 rs764542610 |
840 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1195030313 CA353720497 |
841 | K>E | No |
ClinGen TOPMed |
|
|
rs763322402 CA2538225 |
841 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA353716258 rs1279732751 |
844 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs74840030 CA2538208 |
844 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1256461714 CA353716251 |
845 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2538207 rs764598021 |
849 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1377832155 CA353716153 |
850 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs753060348 CA353716132 |
852 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs753060348 CA2538205 |
852 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA353716085 rs1406510006 |
853 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA353716079 rs765570608 |
854 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA2538204 rs765570608 |
854 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA2538203 rs146697807 |
856 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353715982 rs770983163 |
858 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770983163 CA2538201 |
858 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 859 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184095523 CA353715943 |
859 | P>L | No |
ClinGen gnomAD |
|
|
CA353715951 rs745686391 |
859 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745686391 CA2538199 |
859 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563216462 CA2538198 |
860 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2538197 rs375120917 |
861 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1459388205 CA353715868 |
864 | E>K | No |
ClinGen gnomAD |
|
|
rs1259530337 CA353715835 |
865 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1320590993 CA353715811 |
866 | L>Q | No |
ClinGen gnomAD |
|
|
CA2538195 rs769513912 |
868 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745509083 CA80525266 |
870 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs745509083 CA2538194 |
870 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1298956387 CA353715576 |
873 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2538192 rs756978036 |
876 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538191 rs529673220 |
876 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 877 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758917624 CA2538189 |
879 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs142380629 CA2538188 |
881 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1163463125 CA353715299 |
882 | I>T | No |
ClinGen Ensembl |
|
|
rs765631774 CA2538187 |
882 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1318953102 CA353715276 |
883 | Q>R | No |
ClinGen TOPMed |
|
|
rs1264751944 CA353714428 |
886 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 886 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431820387 CA353714431 |
886 | A>T | No |
ClinGen gnomAD |
|
|
rs1344117381 CA353714422 |
887 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 887 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754879976 CA2538168 |
887 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1490368725 CA353714389 |
888 | V>G | No |
ClinGen gnomAD |
|
|
CA2538167 rs753235960 |
890 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs779228143 CA2538166 |
891 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305188371 CA353714264 |
893 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1316540148 CA353714276 |
893 | C>G | No |
ClinGen gnomAD |
|
|
rs199526927 CA2538165 |
895 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353714163 rs1329149644 |
897 | I>T | No |
ClinGen gnomAD |
|
|
rs754161351 CA2538164 |
900 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2538162 rs766752423 |
902 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs367689889 CA2538161 |
903 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767628174 CA2538159 |
904 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201631333 CA2538160 |
904 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201631333 CA353714005 |
904 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353713972 rs1198966199 |
905 | K>E | No |
ClinGen TOPMed |
|
|
CA2538157 rs774496600 |
905 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1379799943 CA353713887 |
907 | I>T | No |
ClinGen gnomAD |
|
|
CA353713878 rs1560036304 |
908 | Y>C | No |
ClinGen Ensembl |
|
|
rs181619622 CA2538156 |
909 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2538154 rs776549808 |
911 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs980591346 CA80523878 |
912 | S>A | No |
ClinGen Ensembl |
|
|
CA353713782 rs770890580 |
913 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538153 rs770890580 |
913 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403906265 CA353713762 |
914 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs746669914 CA2538152 |
914 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs772799694 CA2538151 |
915 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1336468043 CA353713653 |
917 | L>F | No |
ClinGen TOPMed |
|
|
CA2538130 rs201650549 |
918 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1243214223 CA353713628 |
919 | K>E | No |
ClinGen gnomAD |
|
|
rs1385565278 CA353713614 |
920 | S>P | No |
ClinGen gnomAD |
|
|
rs1446431368 CA353713571 |
923 | G>D | No |
ClinGen gnomAD |
|
|
rs1449609354 CA353713555 |
924 | L>F | No |
ClinGen TOPMed |
|
|
rs374572957 CA2538127 |
926 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1328868700 CA353713527 |
927 | D>Y | No |
ClinGen gnomAD |
|
|
CA2538125 rs149038615 |
930 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149038615 CA80522999 |
930 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1236441996 CA353713467 |
931 | E>* | No |
ClinGen TOPMed |
|
|
CA2538123 rs144906799 |
932 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149952948 CA80522982 |
934 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs149952948 CA2538122 |
934 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1184131991 CA353713396 |
936 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM3408134 CA2538121 rs572197977 |
938 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA353713367 rs1236196256 |
938 | P>T | No |
ClinGen gnomAD |
|
|
rs1046853391 CA80522952 |
939 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1560035201 CA353713353 |
939 | I>V | No |
ClinGen Ensembl |
|
|
CA2538119 rs780593369 |
940 | I>T | No |
ClinGen ExAC gnomAD |
|
|
COSM3660085 rs1208088177 CA353713320 |
942 | T>I | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1418510775 CA353713267 |
949 | E>D | No |
ClinGen TOPMed |
|
|
rs1240147705 CA353713269 |
949 | E>G | No |
ClinGen gnomAD |
|
|
rs907811058 CA80522906 |
951 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1375134507 CA353713257 |
951 | I>V | No |
ClinGen gnomAD |
|
|
rs1431793770 CA353713243 |
953 | E>* | No |
ClinGen TOPMed |
|
|
rs139805893 CA2538114 |
954 | I>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 955 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560035098 CA353713212 |
957 | L>S | No |
ClinGen Ensembl |
|
|
rs1443889920 CA353713205 |
958 | T>N | No |
ClinGen gnomAD |
|
|
rs1335945425 CA353713201 |
959 | N>D | No |
ClinGen gnomAD |
|
|
rs1403027391 CA353713194 |
960 | E>K | No |
ClinGen gnomAD |
|
|
rs1366966833 CA353713184 |
961 | P>T | No |
ClinGen gnomAD |
|
|
rs777996804 CA2538110 |
962 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2538111 rs751852581 |
962 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA353713176 rs751852581 |
962 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 963 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2538108 rs752838611 |
964 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs373849945 CA2538109 |
964 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353713164 rs373849945 |
964 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470402797 CA353713146 |
967 | T>A | No |
ClinGen gnomAD |
|
|
rs1197030547 CA353713117 |
971 | V>L | No |
ClinGen gnomAD |
|
|
rs1359261205 CA353709983 |
974 | T>A | No |
ClinGen gnomAD |
|
|
rs1359261205 CA353709982 |
974 | T>S | No |
ClinGen gnomAD |
|
|
rs377699671 CA2538086 |
975 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761725218 CA2538085 |
975 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1560025206 CA353709912 |
976 | F>L | No |
ClinGen Ensembl |
|
|
CA353709933 rs1358339793 |
976 | F>L | No |
ClinGen gnomAD |
|
|
rs202130918 CA2538083 |
978 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762617673 CA2538082 |
978 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA353709880 rs202130918 |
978 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774960236 CA2538081 |
979 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476877570 CA353709840 |
981 | H>N | No |
ClinGen gnomAD |
|
|
rs1187587604 CA353709820 |
982 | L>S | No |
ClinGen gnomAD |
|
|
CA80515465 rs1054571244 |
983 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1483230755 CA353709805 |
983 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs759956304 CA2538079 |
984 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs144423530 CA2538078 RCV000954896 |
986 | F>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2538076 rs140783319 RCV000951254 |
989 | C>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1576259231 CA353709618 |
990 | S>F | No |
ClinGen Ensembl |
|
|
COSM137388 rs778316784 CA2538075 |
991 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA2538074 rs772368591 |
993 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 997 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755147870 CA2538071 |
998 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 998 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353709436 rs1454329029 |
1002 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2538068 rs374547341 |
1004 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374547341 CA353709421 |
1004 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374547341 COSM72722 CA2538067 |
1004 | A>T | ovary Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA80515378 rs758268069 |
1004 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA353709362 rs1383866731 |
1008 | R>K | No |
ClinGen gnomAD |
|
|
CA353709356 rs1185968855 |
1008 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA353709337 rs1445615881 |
1010 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1010 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2538064 rs752414698 |
1011 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1011 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177603978 CA353709319 |
1012 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA353709318 rs1177603978 |
1012 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs764639667 CA353709291 |
1014 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534678683 CA353709278 |
1015 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs534678683 CA2538062 |
1015 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353709257 rs1487978657 |
1017 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA353709214 rs780026426 |
1018 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780026426 CA2538047 |
1018 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757167008 CA2538046 |
1019 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353709176 rs746990515 |
1021 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538045 rs746990515 |
1021 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538043 rs758248288 |
1023 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA353709133 rs1465194803 |
1024 | Q>* | No |
ClinGen TOPMed |
|
|
CA353709124 rs1364792006 |
1025 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1159344829 CA353709116 |
1026 | K>Q | No |
ClinGen gnomAD |
|
|
rs752452714 CA2538042 |
1027 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538041 rs764880809 |
1028 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2538040 rs754620568 |
1029 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753342403 CA2538039 |
1030 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532794564 CA2538036 |
1031 | Y>* | No |
ClinGen 1000Genomes ExAC |
|
|
rs761229739 CA2538037 |
1031 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1423278408 CA353709033 |
1033 | V>A | No |
ClinGen TOPMed |
|
|
rs150647278 CA2538035 |
1034 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs952666459 CA80515073 |
1036 | P>S | No |
ClinGen gnomAD |
|
|
CA2538034 rs762210716 |
1037 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2538033 rs774583058 |
1038 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1038 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353708920 rs1224124771 |
1041 | T>S | No |
ClinGen gnomAD |
|
|
rs1339950469 CA353708905 |
1042 | D>A | No |
ClinGen gnomAD |
|
|
CA80515063 rs1027275669 |
1042 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2538032 rs768881897 |
1048 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2538031 rs775611087 |
1050 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772289891 CA80515055 |
1053 | L>F | No |
ClinGen Ensembl |
|
|
rs570258286 CA2538029 |
1054 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1457951794 CA353708655 |
1055 | H>Q | No |
ClinGen TOPMed |
|
|
rs1302585700 CA353708661 |
1055 | H>Y | No |
ClinGen gnomAD |
|
|
CA2538028 rs76007436 |
1057 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs73853324 CA2538026 |
1058 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1576258149 CA353708621 |
1058 | V>I | No |
ClinGen Ensembl |
|
|
CA2538025 rs747938986 |
1060 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA353708563 rs1226061679 |
1061 | C>F | No |
ClinGen TOPMed |
|
|
CA2538023 rs754639667 |
1062 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262368308 CA353708528 |
1063 | L>S | No |
ClinGen gnomAD |
|
|
rs202229232 CA2538022 |
1064 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377402243 CA2538021 |
1064 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2538020 COSM230998 rs377402243 |
1064 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA353708393 rs1338816873 |
1068 | R>T | No |
ClinGen gnomAD |
|
|
rs1236757135 CA353708241 |
1073 | I>L | No |
ClinGen TOPMed |
|
|
CA353708183 rs762257130 |
1075 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312644983 CA353708083 |
1078 | H>R | No |
ClinGen gnomAD |
|
|
CA353707738 rs1469444997 |
1080 | I>L | No |
ClinGen gnomAD |
|
|
rs765407677 CA2537995 |
1080 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs144700995 CA2537994 |
1081 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144700995 CA2537993 |
1081 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761803068 CA353707700 |
1083 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA353707702 rs1220878994 |
1083 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA353707703 rs1220878994 |
1083 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA353707660 CA80513650 rs369014902 |
1086 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA353707653 rs1209615855 |
1087 | T>K | No |
ClinGen TOPMed |
|
|
CA2537989 rs768648564 |
1091 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2537990 rs774210155 |
1091 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA353707602 rs1277538067 |
1092 | I>T | No |
ClinGen TOPMed |
|
|
rs1444005935 CA353707584 |
1094 | T>A | No |
ClinGen gnomAD |
|
|
rs573214446 CA2537988 |
1095 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2537985 rs745564245 |
1097 | N>H | No |
ClinGen ExAC |
|
|
CA353706996 rs1576253384 |
1098 | M>V | No |
ClinGen Ensembl |
|
|
rs1435792912 CA353706975 |
1099 | K>Q | No |
ClinGen TOPMed |
|
|
CA353706923 rs1200927232 |
1100 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 1102 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353706745 rs1399884581 |
1105 | I>V | No |
ClinGen gnomAD |
|
|
CA2537982 rs746542950 |
1106 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs758979964 CA2537980 |
1109 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA353706595 rs778076617 |
1109 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA2537981 rs778076617 |
1109 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs753015715 CA2537979 |
1110 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs932432681 CA353706491 |
1112 | H>Q | No |
ClinGen gnomAD |
|
|
rs375289078 CA2537978 |
1112 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1490861763 CA353706478 |
1113 | K>R | No |
ClinGen gnomAD |
|
|
CA353706298 rs1286824605 |
1121 | I>M | No |
ClinGen gnomAD |
|
|
rs755164607 CA2537977 |
1121 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353706302 rs1215772798 |
1121 | I>V | No |
ClinGen gnomAD |
|
|
rs1560008345 CA353735579 |
1122 | G>V | No |
ClinGen Ensembl |
|
|
CA353735556 rs1325034438 |
1123 | S>L | No |
ClinGen gnomAD |
|
|
CA353735474 rs1213503556 |
1127 | L>S | No |
ClinGen gnomAD |
|
|
rs1359728535 CA353735451 |
1128 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2537949 rs776366120 |
1130 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2537950 rs745503181 |
1130 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA2537947 rs139017505 |
1131 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1471100315 CA353735332 |
1133 | E>D | No |
ClinGen gnomAD |
|
|
CA353735347 rs1261895213 |
1133 | E>K | No |
ClinGen gnomAD |
|
|
rs777369299 CA2537946 |
1135 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs758813597 CA2537945 |
1136 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA2537943 rs779248025 |
1139 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779331823 CA2537926 |
1141 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353733731 rs1424762081 |
1143 | H>P | No |
ClinGen gnomAD |
|
|
rs200185816 CA2537925 |
1143 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA80547174 rs988564082 |
1143 | H>Y | No |
ClinGen Ensembl |
|
|
rs1035431529 CA80547163 |
1145 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2537922 rs756267726 COSM3118261 |
1146 | A>T | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2537920 rs781126084 |
1149 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1149 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2537919 rs757355441 |
1151 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2537918 rs201829027 |
1153 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs759569049 CA80547136 |
1153 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759569049 CA2537916 |
1153 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201829027 CA2537917 |
1153 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA353733310 rs753556924 |
1154 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753556924 CA2537915 |
1154 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766240649 CA2537914 |
1155 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2537913 rs760242484 |
1156 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1404446887 CA353733117 COSM580619 |
1158 | G>W | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs771722882 CA2537911 |
1164 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA2537910 rs368893280 |
1165 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs769099787 CA2537909 |
1166 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2537908 rs769099787 |
1166 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1363651375 CA353732590 |
1171 | L>R | No |
ClinGen gnomAD |
|
|
rs1032617035 CA80547114 |
1171 | L>V | No |
ClinGen TOPMed |
|
|
CA2537907 rs749848774 |
1173 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs145087190 CA80547107 |
1174 | V>A | No |
ClinGen ESP |
|
| TCGA novel | 1174 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353729890 rs780959287 |
1176 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs780959287 CA2537854 |
1176 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1453652006 CA353729854 |
1177 | E>G | No |
ClinGen gnomAD |
|
|
CA353729858 rs1220990856 |
1177 | E>K | No |
ClinGen gnomAD |
No associated diseases with Q4G0N8
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| motile cilium | A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ion channel activity | Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size). |
| potassium:proton antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: K+(in) + H+(out) = K+(out) + H+(in). |
| sodium:proton antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + H+(in) = Na+(in) + H+(out). |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| flagellated sperm motility | The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. |
| potassium ion transmembrane transport | A process in which a potassium ion is transported from one side of a membrane to the other. |
| regulation of intracellular pH | Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion. |
| sodium ion import across plasma membrane | The directed movement of sodium ions from outside of a cell, across the plasma membrane and into the cytosol. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P19634 | SLC9A1 | Sodium/hydrogen exchanger 1 | Homo sapiens (Human) | PR |
| Q14940 | SLC9A5 | Sodium/hydrogen exchanger 5 | Homo sapiens (Human) | PR |
| Q9UBY0 | SLC9A2 | Sodium/hydrogen exchanger 2 | Homo sapiens (Human) | PR |
| Q84WG1 | NHX3 | Sodium/hydrogen exchanger 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8S397 | NHX4 | Sodium/hydrogen exchanger 4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q3YL57 | NHX8 | Sodium/hydrogen exchanger 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGIFKEFFF | STEDLPEVIL | TLSLISSIGA | FLNRHLEDFP | IPVPVILFLL | GCSFEVLSFT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSQVQRYANA | IQWMSPDLFF | RIFTPVVFFT | TAFDMDTYML | QKLFWQILLI | SIPGFLVNYI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LVLWHLASVN | QLLLKPTQWL | LFSAILVSSD | PMLTAAAIRD | LGLSRSLISL | INGESLMTSV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ISLITFTSIM | DFDQRLQSKR | NHTLAEEIVG | GICSYIIASF | LFGILSSKLI | QFWMSTVFGD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DVNHISLIFS | ILYLIFYICE | LVGMSGIFTL | AIVGLLLNST | SFKAAIEETL | LLEFWTFLSR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IAFLMVFTFF | GLLIPAHTYL | YIEFVDIYYS | LNIYLTLIVL | RFLTLLLISP | VLSRVGHEFS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| WRWIFIMVCS | EMKGMPNINM | ALLLAYSDLY | FGSDKEKSQI | LFHGVLVCLI | TLVVNRFILP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VAVTILGLRD | ATSTKYKSVC | CTFQHFQELT | KSAASALKFD | KDLANADWNM | IEKAITLENP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YMLNEEETTE | HQKVKCPHCN | KEIDEIFNTE | AMELANRRLL | SAQIASYQRQ | YRNEILSQSA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VQVLVGAAES | FGEKKGKCMS | LDTIKNYSES | QKTVTFARKL | LLNWVYNTRK | EKEGPSKYFF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FRICHTIVFT | EEFEHVGYLV | ILMNIFPFII | SWISQLNVIY | HSELKHTNYC | FLTLYILEAL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LKIAAMRKDF | FSHAWNIFEL | AITLIGILHV | ILIEIDTIKY | IFNETEVIVF | IKVVQFFRIL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RIFKLIAPKL | LQIIDKRMSH | QKTFWYGILK | GYVQGEADIM | TIIDQITSSK | QIKQMLLKQV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| IRNMEHAIKE | LGYLEYDHPE | IAVTVKTKEE | INVMLNMATE | ILKAFGLKGI | ISKTEGAGIN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KLIMAKKKEV | LDSQSIIRPL | TVEEVLYHIP | WLDKNKDYIN | FIQEKAKVVT | FDCGNDIFEE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| GDEPKGIYII | ISGMVKLEKS | KPGLGIDQMV | ESKEKDFPII | DTDYMLSGEI | IGEINCLTNE |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| PMKYSATCKT | VVETCFIPKT | HLYDAFEQCS | PLIKQKMWLK | LGLAITARKI | REHLSYEDWN |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| YNMQLKLSNI | YVVDIPMSTK | TDIYDENLIY | VILIHGAVED | CLLRKTYRAP | FLIPITCHQI |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| QSIEDFTKVV | IIQTPINMKT | FRRNIRKFVP | KHKSYLTPGL | IGSVGTLEEG | IQEERNVKED |
| 1150 | 1160 | 1170 | |||
| GAHSAATARS | PQPCSLLGTK | FNCKESPRIN | LRKVRKE |