Q2NKQ1
PR
Gene name |
SGSM1 (KIAA1941, RUTBC2) |
Protein name |
Small G protein signaling modulator 1 |
Names |
RUN and TBC1 domain-containing protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:129049 |
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 Q2NKQ1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q2NKQ1-F1 | Predicted | AlphaFoldDB |
900 variants for Q2NKQ1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1315215043 CA410983546 |
4 | A>V | No |
ClinGen gnomAD |
|
|
CA410983548 rs1226056752 |
5 | P>A | No |
ClinGen gnomAD |
|
|
rs1317089600 CA410983559 |
7 | E>K | No |
ClinGen gnomAD |
|
|
CA410983584 rs1372332595 |
8 | A>V | No |
ClinGen TOPMed |
|
|
rs1455064875 CA410983598 |
10 | T>I | No |
ClinGen gnomAD |
|
|
rs1181749791 CA410983601 |
11 | R>Q | No |
ClinGen gnomAD |
|
|
rs1249812574 CA410983620 |
14 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA322710366 rs1017378685 |
17 | T>S | No |
ClinGen Ensembl |
|
|
CA410983641 rs1424440389 |
18 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 24 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10156176 rs368610733 |
26 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA10156175 rs750698044 |
26 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1569144148 CA410988726 |
28 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 29 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227833570 CA410988735 |
29 | A>S | No |
ClinGen gnomAD |
|
|
rs1426007115 CA410988764 |
31 | T>I | No |
ClinGen TOPMed |
|
|
CA10156177 rs766572191 COSM726116 COSM1149415 |
32 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1361949539 COSM86264 CA410988773 |
32 | R>H | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA410988802 rs1210651282 |
34 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1601914245 CA410988818 |
35 | V>A | No |
ClinGen Ensembl |
|
|
CA10156180 rs779526599 |
37 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10156181 rs748432818 |
39 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs748432818 CA10156182 |
39 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1186167724 CA410988912 |
42 | I>V | No |
ClinGen gnomAD |
|
|
CA10156184 rs777346262 |
44 | S>F | No |
ClinGen ExAC TOPMed |
|
|
CA410988942 rs777346262 |
44 | S>Y | No |
ClinGen ExAC TOPMed |
|
|
CA410988963 rs1240922218 |
46 | C>G | No |
ClinGen TOPMed gnomAD |
|
| rs370310574 | 47 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410988991 rs1160723412 |
47 | A>V | No |
ClinGen gnomAD |
|
|
CA10156205 rs780863135 |
49 | V>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1415271 COSM1415270 rs745328941 CA10156206 |
50 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs1319132901 CA410989007 |
50 | E>G | No |
ClinGen gnomAD |
|
|
CA410989011 rs769368121 |
51 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769368121 CA10156207 |
51 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200042106 CA10156209 |
53 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761752982 CA10156212 |
55 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410989040 rs776946803 CA10156214 |
56 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA10156216 rs759488017 |
57 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10156215 rs759488017 |
57 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10156218 rs763433964 |
58 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156217 rs752783707 |
58 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375081484 CA10156220 |
59 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10156219 rs764629932 |
59 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752638490 CA10156221 |
60 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 60 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780773163 CA10156222 |
61 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410989094 rs1432141194 |
66 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10156224 rs372791581 |
67 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410989098 rs1172133003 |
67 | S>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10156225 rs779612530 |
68 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410989126 rs1308867441 |
71 | A>T | No |
ClinGen gnomAD |
|
|
CA410989142 rs1182767238 |
74 | F>I | No |
ClinGen TOPMed |
|
|
CA10156227 rs768692786 |
75 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs779038357 CA10156228 |
78 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1407820934 CA410989172 |
78 | G>S | No |
ClinGen gnomAD |
|
|
CA410989176 rs779038357 |
78 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs567152408 CA322736815 |
79 | K>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs369096752 CA322736823 |
80 | N>K | No |
ClinGen ESP |
|
|
CA10156229 rs373062184 |
82 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10156231 rs186001144 |
83 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 83 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410989238 rs1180517388 |
88 | S>G | No |
ClinGen gnomAD |
|
|
CA10156235 rs571240960 |
89 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201677185 CA10156236 |
89 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201677185 CA410989249 |
89 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10156237 rs752083494 |
90 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1376360487 CA410989259 |
91 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1376360487 CA410989257 |
91 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA10156238 rs762105510 |
92 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA410989287 rs1459972251 |
95 | E>G | No |
ClinGen TOPMed |
|
|
CA410989310 rs373806756 |
98 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10156241 rs199982249 |
99 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199982249 CA410989311 |
99 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1186335594 | 100 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410989321 rs1255871242 |
100 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA322736916 rs753360923 |
101 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538422718 CA410989326 |
101 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538422718 CA10156242 |
101 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1032757 COSM1592909 CA10156243 rs753360923 |
101 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1592908 rs1165480807 COSM1032758 CA410989345 |
102 | R>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA410989344 rs1165480807 |
102 | R>T | No |
ClinGen TOPMed |
|
|
CA10156260 rs376882015 |
106 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753571655 CA10156261 |
107 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156262 rs753571655 |
107 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156263 rs182989816 |
107 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1319814886 CA410989413 |
112 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA410989411 rs1319814886 |
112 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA10156266 rs777607630 |
113 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
rs758331653 CA10156265 |
113 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs6004318 CA10156267 |
115 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10156269 rs757023732 |
116 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308624194 CA410989455 |
119 | P>R | No |
ClinGen gnomAD |
|
|
rs200582773 CA10156271 |
120 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 120 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10156272 rs568019806 |
121 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs267606193 CA322739311 |
122 | S>F | No |
ClinGen Ensembl |
|
|
CA10156273 rs370429389 |
122 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs187618343 CA10156274 |
123 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10156275 rs187618343 |
123 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10156277 rs761055073 |
124 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA410989495 rs1483078595 |
124 | L>R | No |
ClinGen gnomAD |
|
|
rs528623013 CA10156278 |
125 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs528623013 CA410989505 |
125 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410989500 rs1180349373 |
125 | A>T | No |
ClinGen gnomAD |
|
|
rs1472812796 CA410989511 |
126 | I>V | No |
ClinGen gnomAD |
|
|
CA410989524 rs1404118893 |
127 | K>E | No |
ClinGen TOPMed |
|
|
rs776359686 CA10156279 |
132 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs759247466 CA10156281 |
132 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410989596 rs759247466 |
132 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759247466 CA10156280 |
132 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156282 rs374133142 |
133 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410989611 rs1293498356 |
134 | A>S | No |
ClinGen gnomAD |
|
|
CA410989627 rs1408470184 |
135 | L>F | No |
ClinGen TOPMed |
|
|
rs1309378732 CA410989635 |
136 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs368349533 CA10156283 |
137 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10156284 rs764043127 |
139 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410989728 rs1476649299 |
143 | I>T | No |
ClinGen TOPMed |
|
|
rs900059372 CA322739398 |
145 | H>R | No |
ClinGen TOPMed |
|
|
rs1480959424 CA410989762 |
146 | Y>H | No |
ClinGen TOPMed |
|
|
CA10156288 rs750278228 |
150 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773713303 CA10156320 |
154 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs534832562 CA322743215 |
154 | Y>H | No |
ClinGen Ensembl |
|
|
rs1163544550 CA410990329 |
162 | M>V | No |
ClinGen TOPMed |
|
|
CA322743217 rs987686812 |
163 | D>G | No |
ClinGen Ensembl |
|
|
rs1324591979 CA410990370 |
168 | P>S | No |
ClinGen gnomAD |
|
|
CA322743224 rs570194534 |
169 | I>V | No |
ClinGen 1000Genomes |
|
|
CA10156323 rs368971861 |
170 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 173 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1202896994 | 175 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377343947 CA10156346 |
177 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs760606564 COSM1592907 COSM1032759 CA10156345 |
177 | P>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA410990601 rs1474445077 |
181 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769677451 CA322743366 |
181 | E>G | No |
ClinGen gnomAD |
|
|
CA410990640 rs1457177555 |
184 | K>N | No |
ClinGen gnomAD |
|
|
CA410990634 rs1413401107 |
184 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA322743406 rs868034011 |
185 | M>I | No |
ClinGen Ensembl |
|
|
CA410990679 rs1333591906 |
187 | T>I | No |
ClinGen TOPMed |
|
|
CA410990686 rs1156962864 |
188 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1415043711 CA410990722 |
190 | H>Q | No |
ClinGen gnomAD |
|
|
CA410990713 rs1364110871 |
190 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 191 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410990744 rs1409891971 |
192 | W>R | No |
ClinGen TOPMed |
|
|
COSM1592906 COSM1032760 rs751817894 CA10156350 |
194 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10156351 rs757338795 |
195 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA410990809 rs1236808966 |
197 | A>V | No |
ClinGen gnomAD |
|
|
CA410990832 rs1345151399 COSM1032761 COSM1592905 |
199 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1281453328 CA410990858 |
201 | V>I | No |
ClinGen gnomAD |
|
|
CA410990890 rs780652120 |
203 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1483815835 CA410990911 |
205 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10156357 rs749576223 |
205 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10156356 rs749576223 |
205 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418801133 CA410990919 |
206 | I>F | No |
ClinGen gnomAD |
|
|
rs941020263 CA322743478 |
207 | H>P | No |
ClinGen TOPMed |
|
|
CA410990962 rs1379836866 |
210 | H>N | No |
ClinGen gnomAD |
|
|
CA410990967 rs1601925533 |
210 | H>P | No |
ClinGen Ensembl |
|
|
rs746574213 CA10156362 |
211 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156361 rs771782020 |
211 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156360 rs771782020 |
211 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156364 rs776649283 |
212 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM3842325 CA10156363 rs770730066 COSM3842324 |
212 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1369723345 CA410990978 |
213 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1369723345 CA410990976 |
213 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1601925586 CA410990989 |
214 | D>G | No |
ClinGen Ensembl |
|
|
CA10156365 rs56123612 |
215 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200297927 CA10156367 |
217 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs949865499 CA322743510 |
219 | R>C | No |
ClinGen TOPMed |
|
|
rs1486520994 COSM247298 CA410991018 |
219 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1451215735 CA410991022 |
220 | P>A | No |
ClinGen TOPMed |
|
|
rs1451215735 CA410991023 |
220 | P>S | No |
ClinGen TOPMed |
|
|
rs1300623309 CA410991032 |
221 | A>V | No |
ClinGen gnomAD |
|
|
rs1601925641 CA410991035 |
222 | L>F | No |
ClinGen Ensembl |
|
|
rs1228633360 CA410991042 |
223 | C>Y | No |
ClinGen TOPMed |
|
|
CA10156393 rs138255291 |
224 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs188563353 CA10156395 |
225 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410991084 rs1460669695 |
227 | R>M | No |
ClinGen gnomAD |
|
|
rs1443699089 CA410991086 |
227 | R>S | No |
ClinGen gnomAD |
|
|
rs758781311 CA10156396 |
228 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867563455 CA322743656 |
228 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 230 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392550423 CA410991107 |
231 | G>S | No |
ClinGen TOPMed |
|
|
rs1164418841 CA410991116 |
232 | S>N | No |
ClinGen TOPMed |
|
|
rs1601925913 CA410991119 |
232 | S>R | No |
ClinGen Ensembl |
|
|
COSM1149417 CA322743669 rs866854613 COSM726114 |
233 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs959657409 CA322743658 |
233 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10156398 rs371782129 |
236 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 236 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10156399 rs756923566 |
236 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10156397 rs371782129 |
236 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1397403600 CA410991151 |
237 | P>L | No |
ClinGen gnomAD |
|
|
CA410991170 rs1416060418 |
241 | A>T | No |
ClinGen TOPMed |
|
|
rs375907759 CA10156400 |
242 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA10156401 rs369148513 |
242 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200355301 CA10156404 |
243 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs879402867 CA322743721 |
244 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10156405 COSM126139 rs768586256 |
245 | V>M | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1008682691 CA322743741 |
246 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs576299738 CA322743744 |
246 | E>D | No |
ClinGen Ensembl |
|
|
CA10156407 rs747252600 |
249 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1474768910 CA410991218 |
249 | H>Y | No |
ClinGen gnomAD |
|
|
CA410991241 rs1271957580 |
252 | S>A | No |
ClinGen gnomAD |
|
|
rs1018339014 CA322743758 |
253 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10156408 rs771120349 |
253 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156410 rs759578137 |
255 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 256 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765680031 CA10156411 |
262 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1354407530 CA410991305 |
262 | N>S | No |
ClinGen gnomAD |
|
|
CA410991303 rs765680031 |
262 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM3390144 rs369682941 COSM3390145 CA10156413 |
263 | V>I | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10156414 rs764435369 |
265 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs751925286 CA10156415 |
266 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10156416 rs373371981 |
267 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10156484 rs201253300 |
268 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1006599830 CA322701524 |
268 | R>K | No |
ClinGen TOPMed |
|
|
CA10156488 rs757065114 |
269 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA10156487 rs764130082 |
269 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156486 rs764130082 |
269 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10156490 rs573738280 |
270 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs371049321 CA322701559 |
271 | M>I | No |
ClinGen ESP TOPMed |
|
|
rs1255402729 CA410983261 |
271 | M>T | No |
ClinGen gnomAD |
|
|
rs1466586571 CA410983258 |
271 | M>V | No |
ClinGen TOPMed |
|
|
rs547652596 CA10156491 |
273 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1251415991 CA410983277 |
273 | A>V | No |
ClinGen gnomAD |
|
|
CA10156492 rs778847157 |
274 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410983283 rs1194097187 |
275 | P>T | No |
ClinGen gnomAD |
|
|
CA410983289 rs1460240287 |
276 | G>R | No |
ClinGen gnomAD |
|
|
rs1266183605 CA410983299 |
277 | Y>C | No |
ClinGen TOPMed |
|
|
CA410983297 rs1601930620 |
277 | Y>D | No |
ClinGen Ensembl |
|
|
rs1366992299 CA410983333 |
282 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs771440265 CA10156497 |
283 | T>M | Variant assessed as Somatic; 9.311e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA410983342 rs1326245267 |
284 | A>S | No |
ClinGen gnomAD |
|
|
CA322701601 rs952699118 |
285 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1005956938 CA322701608 |
286 | V>I | No |
ClinGen TOPMed |
|
|
rs769531940 CA10156500 |
287 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410983370 rs774828550 |
288 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs774828550 CA10156501 |
288 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1301766303 CA410983389 |
291 | W>* | No |
ClinGen TOPMed |
|
|
rs762554487 CA10156502 |
294 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs763888615 CA10156503 |
294 | N>S | No |
ClinGen ExAC |
|
|
rs1187358812 CA410983422 |
296 | L>M | No |
ClinGen gnomAD |
|
|
rs1261238190 CA410983426 |
297 | M>L | No |
ClinGen gnomAD |
|
|
CA322701630 rs796502516 |
299 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1418566616 CA410983446 |
299 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 300 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410983455 rs1474830280 |
301 | V>L | No |
ClinGen gnomAD |
|
|
rs1334425684 CA410983460 |
302 | G>R | No |
ClinGen gnomAD |
|
|
rs772084972 CA322701641 |
303 | D>N | No |
ClinGen Ensembl |
|
|
CA410983490 rs1447611952 |
306 | Y>F | No |
ClinGen TOPMed |
|
|
CA410983487 rs1330753999 |
306 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 307 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765330578 | 309 | S>= | Variant assessed as Somatic; 0.0003728 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420067568 CA410983849 |
310 | V>A | No |
ClinGen TOPMed |
|
|
CA10156528 rs375323027 |
310 | V>I | Variant assessed as Somatic; 4.66e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA410983861 rs1408180981 |
311 | Y>S | No |
ClinGen TOPMed |
|
|
CA10156530 rs764252074 |
313 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758347570 CA10156529 |
313 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs779295540 CA322706397 |
315 | A>G | No |
ClinGen gnomAD |
|
|
rs1601938204 CA410983953 |
316 | M>I | No |
ClinGen Ensembl |
|
|
CA10156531 rs751733101 |
316 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA410983957 rs1601938215 |
317 | T>P | No |
ClinGen Ensembl |
|
|
CA10156534 rs367830127 |
319 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1225528 CA10156535 rs756506570 COSM1225529 |
319 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA410984002 rs756506570 |
319 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410984008 rs1455163149 |
320 | L>V | No |
ClinGen gnomAD |
|
|
rs1309412424 CA410984052 |
322 | E>D | No |
ClinGen TOPMed |
|
|
CA410984100 rs1398649641 |
325 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA410984163 rs1319688632 |
329 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 332 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410984565 rs1295506412 |
332 | V>G | No |
ClinGen TOPMed |
|
|
CA10156550 rs751643303 |
333 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 334 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768071926 CA10156552 |
335 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756637869 CA10156554 |
336 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA410984594 rs1213747534 |
336 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1213831165 CA410984599 |
337 | T>A | No |
ClinGen gnomAD |
|
|
rs754193291 CA10156556 |
337 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA410984606 rs1601939274 |
338 | V>G | No |
ClinGen Ensembl |
|
|
CA10156557 rs754601421 |
338 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs957677524 CA322707376 |
339 | V>G | No |
ClinGen Ensembl |
|
|
rs1284995630 CA410984619 |
340 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 341 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771571853 CA10156560 |
345 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1371198332 CA410984687 |
347 | Q>* | No |
ClinGen TOPMed |
|
|
rs572881469 CA410984731 |
349 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs572881469 CA10156562 |
349 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10156565 rs540278212 |
351 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10156566 rs768962451 |
352 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1415277 CA10156567 COSM1415276 rs774720650 |
352 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs768962451 CA410984768 |
352 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs761926848 CA10156568 |
354 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs767693059 CA10156569 |
355 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs953221485 CA322707436 |
357 | G>R | No |
ClinGen gnomAD |
|
|
rs761212416 CA10156571 |
358 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs909145539 CA322707440 |
359 | L>F | No |
ClinGen gnomAD |
|
|
CA410984902 rs1181516466 |
361 | Q>K | No |
ClinGen gnomAD |
|
|
CA10156576 rs752357407 |
364 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA10156581 rs781025774 |
371 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA410985026 rs1296504134 |
373 | H>Q | No |
ClinGen gnomAD |
|
|
CA10156582 rs574276307 |
373 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10156583 rs769726484 |
377 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410985051 rs769726484 |
377 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410985058 rs1555927839 |
378 | P>Q | No |
ClinGen Ensembl |
|
|
rs938428969 CA322707481 |
379 | P>L | No |
ClinGen Ensembl |
|
|
rs1234047808 CA410985063 |
379 | P>S | No |
ClinGen TOPMed |
|
|
CA10156587 rs773319199 |
381 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA10156588 rs760691824 |
382 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279620667 CA410985088 |
383 | Q>R | No |
ClinGen gnomAD |
|
|
rs766867835 CA10156589 |
384 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA410985125 rs1203782240 |
387 | G>D | No |
ClinGen TOPMed |
|
|
rs775788308 CA10156612 |
387 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA410985149 rs1348033182 |
390 | F>L | No |
ClinGen TOPMed |
|
|
rs924820630 CA322707697 |
391 | P>T | No |
ClinGen gnomAD |
|
|
CA410985156 rs1259794292 |
392 | K>E | No |
ClinGen TOPMed |
|
|
rs1454865636 CA410985164 |
393 | L>V | No |
ClinGen gnomAD |
|
|
rs763262687 CA10156613 |
394 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10156614 rs375693724 |
394 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA322707713 rs1041327561 |
396 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA410985180 rs1041327561 |
396 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs568220308 CA10156615 |
396 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10156616 rs761586162 |
398 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767131304 CA10156617 |
399 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA10156619 rs529211960 |
400 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61744650 CA10156620 |
400 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10156618 rs529211960 |
400 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753644894 CA10156621 |
402 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370529588 CA322707782 |
403 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 405 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1005672841 CA322707793 |
405 | T>S | No |
ClinGen Ensembl |
|
|
CA410985245 rs1196895204 |
407 | S>* | No |
ClinGen gnomAD |
|
|
rs781213364 CA10156626 |
409 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10156627 rs745972853 |
411 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410985279 rs1265474827 |
412 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 413 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373781977 CA10156629 |
415 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA410985299 rs1601939835 |
415 | T>P | No |
ClinGen Ensembl |
|
|
CA410985337 rs774848141 |
417 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs768890550 CA10156631 |
417 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410985421 rs1460420067 |
422 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA410985436 rs1035628397 |
423 | Y>C | No |
ClinGen TOPMed |
|
|
rs539278453 CA10156635 |
423 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1035628397 CA322707821 |
423 | Y>S | No |
ClinGen TOPMed |
|
|
CA410985457 rs1384346562 |
425 | G>A | No |
ClinGen gnomAD |
|
|
CA410985456 rs1384346562 |
425 | G>D | No |
ClinGen gnomAD |
|
|
CA10156637 rs760292865 |
426 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs557828857 CA10156638 |
427 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10156639 rs566634328 |
428 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs754998311 | 430 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428375094 CA410985527 |
431 | V>I | No |
ClinGen TOPMed |
|
|
rs1482880614 CA410985909 |
432 | A>T | No |
ClinGen gnomAD |
|
|
CA410985919 rs1252060841 |
433 | P>R | No |
ClinGen gnomAD |
|
|
CA410985921 rs186909479 |
434 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs186909479 CA10156661 |
434 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410985923 rs1413218060 |
434 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA410985940 rs758197558 |
436 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156662 rs752397686 |
436 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs767672095 CA10156665 |
438 | S>N | No |
ClinGen ExAC |
|
|
rs750633619 CA410985974 |
442 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156666 rs750633619 |
442 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756397016 CA10156667 |
444 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs749434629 CA10156669 |
446 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA410986000 rs1341422504 COSM1153978 |
447 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
COSM1632548 rs1341180079 CA410986009 |
448 | W>* | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1308850701 CA410986016 |
449 | M>V | No |
ClinGen gnomAD |
|
|
CA10156670 rs755391877 |
450 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10156671 rs116017106 |
451 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410986043 rs1341831732 |
453 | A>T | No |
ClinGen gnomAD |
|
|
rs376636359 CA10156672 |
455 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410986056 rs1434449212 |
455 | R>W | No |
ClinGen TOPMed |
|
|
rs773768180 CA10156674 |
459 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1177436339 CA410986086 |
460 | V>L | No |
ClinGen gnomAD |
|
|
rs1463487674 CA410986093 |
461 | A>G | No |
ClinGen TOPMed |
|
|
CA410986090 rs377645874 |
461 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377645874 CA10156675 |
461 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410986094 rs1463487674 |
461 | A>V | No |
ClinGen TOPMed |
|
|
rs1465781881 CA410986097 |
462 | R>K | No |
ClinGen Ensembl |
|
|
rs867240577 CA322711086 |
463 | G>R | No |
ClinGen gnomAD |
|
|
rs867240577 CA410986102 |
463 | G>W | No |
ClinGen gnomAD |
|
| TCGA novel | 464 | S>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170498450 CA410986110 |
464 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 467 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410986141 rs1174630540 |
468 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10156677 rs775977623 |
468 | P>Q | No |
ClinGen ExAC |
|
|
CA10156678 rs191931854 |
469 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10156679 rs543827291 |
470 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563632035 CA10156680 |
470 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410986151 rs563632035 |
470 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 471 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10156682 rs762938788 |
471 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs763875141 CA10156683 |
473 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA410986174 rs1366679173 |
473 | T>I | No |
ClinGen gnomAD |
|
|
CA410986175 rs1366679173 |
473 | T>S | No |
ClinGen gnomAD |
|
|
CA410986176 rs1297691741 |
474 | T>P | No |
ClinGen gnomAD |
|
|
rs1197869116 CA410986182 |
475 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 476 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10156686 rs145626737 |
477 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10156688 rs116556115 |
480 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410986214 rs1213947789 |
480 | P>S | No |
ClinGen gnomAD |
|
|
CA10156691 rs748650038 |
481 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778249450 CA10156692 |
482 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366928271 CA410986244 |
484 | P>L | No |
ClinGen TOPMed |
|
|
CA10156693 rs747423333 |
484 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA410986246 rs770437782 |
485 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs770437782 CA10156694 |
485 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA322711972 rs887711733 |
487 | P>R | No |
ClinGen TOPMed |
|
|
CA10156716 rs748820640 |
489 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779519197 CA10156715 |
489 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368296704 CA10156718 |
491 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410986303 rs1188787901 |
491 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 492 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771885403 CA10156720 |
493 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772946127 CA10156722 |
495 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156721 rs772946127 |
495 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156723 rs765423520 |
496 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156724 rs372552755 |
497 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1414974313 CA410986346 |
498 | L>F | No |
ClinGen gnomAD |
|
|
CA410986350 rs1259111505 |
499 | P>S | No |
ClinGen gnomAD |
|
|
rs1443713869 CA410986375 |
502 | W>C | No |
ClinGen gnomAD |
|
|
rs1375693628 CA410986389 |
504 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA410986385 rs1309589619 |
504 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA410986390 rs1601946133 |
505 | S>R | No |
ClinGen Ensembl |
|
|
rs757775299 CA10156728 |
506 | P>L | No |
ClinGen ExAC |
|
|
rs1239956389 CA410986399 |
506 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1239956389 CA410986400 |
506 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs368742437 CA410986404 |
507 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368742437 CA10156730 |
507 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10156729 rs200354936 |
507 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1190467818 CA410986407 |
508 | K>E | No |
ClinGen TOPMed |
|
|
CA10156731 rs755743078 |
509 | S>T | No |
ClinGen ExAC gnomAD |
|
|
COSM3842329 COSM3842328 CA10156732 rs779714195 |
512 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs754496564 CA10156734 |
513 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA10156735 rs778450366 |
514 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs748112548 CA410986481 |
519 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156736 rs748112548 |
519 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156739 rs191833638 |
520 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10156740 rs770099281 |
523 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1214014705 CA410986505 |
523 | S>T | No |
ClinGen TOPMed |
|
|
rs376542790 CA322712056 |
524 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA410986515 rs1398852965 |
525 | T>A | No |
ClinGen gnomAD |
|
|
CA410986519 rs1453391173 |
525 | T>I | No |
ClinGen gnomAD |
|
|
rs763327751 CA10156742 |
526 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156758 rs191374651 |
532 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410986707 rs1317428916 |
533 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 535 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357308596 CA410986725 |
536 | K>E | No |
ClinGen gnomAD |
|
|
CA410986730 rs1471142431 |
536 | K>N | No |
ClinGen TOPMed |
|
|
rs1312384727 CA410986735 |
537 | L>H | No |
ClinGen gnomAD |
|
|
rs376756508 CA10156761 |
540 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774441935 CA10156762 |
543 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs761830212 CA10156763 |
545 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA10156764 rs369965003 |
546 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773607105 CA10156765 |
547 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA410986834 rs1446494064 |
551 | F>L | No |
ClinGen TOPMed |
|
|
CA410986840 rs1389051407 |
552 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1426378314 CA410987574 |
558 | C>Y | No |
ClinGen TOPMed |
|
|
CA410987653 rs1351182279 |
564 | V>A | No |
ClinGen gnomAD |
|
|
rs761139970 CA10156795 |
564 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212831350 CA410987695 |
567 | H>Q | No |
ClinGen TOPMed |
|
|
CA10156797 rs776928843 |
567 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA10156803 rs189518601 |
572 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757214875 CA10156804 |
573 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs894050862 CA322716688 |
574 | H>D | No |
ClinGen gnomAD |
|
|
rs1457838580 CA410987781 |
574 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA410987821 rs1417654938 |
576 | I>S | No |
ClinGen gnomAD |
|
|
rs199940405 CA322716700 |
577 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199940405 CA10156805 |
577 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410987846 rs1465654198 |
578 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10156808 rs755987880 |
583 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA410987927 rs1601953158 |
583 | C>S | No |
ClinGen Ensembl |
|
|
rs748312188 COSM3842330 COSM3842331 CA10156809 |
584 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA410987966 rs1601953182 |
585 | A>V | No |
ClinGen Ensembl |
|
|
CA410987980 rs946967176 |
586 | G>A | No |
ClinGen TOPMed |
|
|
CA322716728 rs946967176 |
586 | G>E | No |
ClinGen TOPMed |
|
|
CA410988014 rs1372197433 |
588 | G>E | No |
ClinGen TOPMed |
|
|
rs1265653638 CA410988023 |
589 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 590 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10156810 rs372740239 |
591 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410988050 rs1251044657 |
592 | R>S | No |
ClinGen TOPMed |
|
|
CA410988067 rs1192867264 COSM225417 |
595 | E>K | NS Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA410988080 rs777693284 |
596 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA322716734 rs796252667 |
596 | Q>K | No |
ClinGen Ensembl |
|
|
rs114841905 CA322716754 |
600 | D>H | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs114841905 CA322716749 |
600 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP NCI-TCGA TOPMed gnomAD |
|
rs771383759 CA322716774 |
601 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156813 rs771383759 |
601 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156814 rs552099815 |
601 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770038803 CA10156816 |
602 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410988505 rs1417398634 |
603 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1417398634 CA410988506 |
603 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA322718200 rs572432134 |
605 | E>G | No |
ClinGen 1000Genomes |
|
|
rs770385153 CA10156838 |
605 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200828306 CA10156839 |
608 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1349115176 CA410988542 |
608 | E>Q | No |
ClinGen gnomAD |
|
|
rs759798513 CA10156841 |
611 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs905732275 CA322718216 |
611 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA410988560 rs905732275 |
611 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10156842 rs774161809 |
613 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs761617847 CA10156843 |
614 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs937215198 CA410988584 |
615 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs937215198 CA322718227 |
615 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1220712065 CA410988587 |
616 | G>R | No |
ClinGen gnomAD |
|
|
rs1345101630 CA410988593 |
617 | G>S | No |
ClinGen TOPMed |
|
|
CA410988609 rs1488911658 |
619 | Q>L | No |
ClinGen gnomAD |
|
|
rs1488911658 CA410988610 |
619 | Q>R | No |
ClinGen gnomAD |
|
|
rs1010256572 CA322718245 |
620 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs760506123 CA10156846 |
621 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs765815809 CA322718248 |
621 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs868173223 CA322718259 |
623 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA410988652 rs868173223 |
623 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs868173223 CA410988654 |
623 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1413311277 CA410988657 |
624 | K>E | No |
ClinGen gnomAD |
|
|
rs376508684 CA410988686 |
626 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376508684 CA10156848 |
626 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1360436163 CA410988784 |
633 | H>R | No |
ClinGen gnomAD |
|
|
CA10156851 rs532009679 |
634 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1481228013 CA410988819 |
635 | Q>H | No |
ClinGen TOPMed |
|
|
COSM3363583 CA10156852 rs757539280 COSM3363582 |
637 | G>R | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 637 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1032106400 CA322718279 |
638 | M>I | No |
ClinGen TOPMed |
|
|
rs781229551 CA10156853 |
638 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156854 rs200427654 |
639 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 640 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225528248 CA410988894 |
641 | T>A | No |
ClinGen TOPMed |
|
|
rs780619418 CA10156856 |
641 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs749557877 CA10156857 |
642 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs199841996 CA10156858 |
643 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA322726159 rs866971958 |
646 | V>A | No |
ClinGen Ensembl |
|
|
rs754366500 CA10156876 |
646 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs779396348 CA10156878 |
648 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
TCGA novel CA410989529 rs1283177675 |
649 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
CA410989542 rs1158788278 |
650 | I>T | No |
ClinGen TOPMed |
|
|
rs775016299 CA10156880 |
651 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1338996560 CA410989581 |
653 | C>R | No |
ClinGen gnomAD |
|
|
CA10156883 rs770458701 |
656 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1160151550 CA410989659 |
658 | M>T | No |
ClinGen TOPMed |
|
|
CA410989652 rs1419422090 |
658 | M>V | No |
ClinGen gnomAD |
|
|
rs1016404591 CA322726202 |
659 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1435296570 CA410989684 |
660 | E>* | No |
ClinGen Ensembl |
|
|
CA410989713 rs1170851821 |
661 | W>C | No |
ClinGen gnomAD |
|
|
rs776069386 CA10156884 |
661 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156885 rs759483701 |
662 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322726205 rs865990888 |
663 | G>S | No |
ClinGen Ensembl |
|
|
CA410989757 rs1460177094 |
665 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1460177094 CA410989754 |
665 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10156889 rs375720420 |
666 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10156895 rs755492483 |
668 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156894 rs755492483 |
668 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201092835 CA10156896 |
669 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10156897 rs201092835 |
669 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs868810923 CA322726262 |
669 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1360457461 CA410989844 |
671 | R>T | No |
ClinGen TOPMed |
|
|
rs1325890556 CA410989864 |
673 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA410989863 rs1278924123 |
673 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA410989872 rs1225551502 |
674 | E>V | No |
ClinGen gnomAD |
|
|
rs1569166843 CA410989880 |
675 | S>F | No |
ClinGen Ensembl |
|
|
rs1267434960 CA410989875 |
675 | S>T | No |
ClinGen gnomAD |
|
|
rs778054102 CA10156898 |
677 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410989896 rs1289583415 |
678 | A>T | No |
ClinGen gnomAD |
|
|
COSM183478 rs372769247 CA10156901 |
679 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1426193615 CA410989910 |
681 | A>T | No |
ClinGen gnomAD |
|
|
rs1368679150 CA410989922 |
682 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs865885556 CA322726302 |
684 | S>* | No |
ClinGen gnomAD |
|
|
CA410989935 rs865885556 |
684 | S>L | No |
ClinGen gnomAD |
|
|
rs949742952 CA322726299 |
684 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1364029177 CA410989938 |
685 | S>T | No |
ClinGen gnomAD |
|
|
rs775424499 CA10156905 CA10156904 |
686 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380574858 CA410989948 |
687 | A>S | No |
ClinGen gnomAD |
|
|
CA322726308 rs943165922 |
688 | S>R | No |
ClinGen TOPMed |
|
|
rs1223840851 CA410989972 |
690 | D>E | No |
ClinGen TOPMed |
|
|
CA410989977 rs1315189323 |
691 | S>N | No |
ClinGen gnomAD |
|
|
CA410989997 rs1569166914 |
694 | H>Y | No |
ClinGen Ensembl |
|
|
rs760931139 CA10156909 |
695 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10156908 rs374168333 |
695 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410990013 rs1295487116 |
696 | M>I | No |
ClinGen TOPMed |
|
|
rs1355520114 CA410990028 |
698 | H>Q | No |
ClinGen gnomAD |
|
|
CA410990034 rs1217306304 |
699 | R>M | No |
ClinGen gnomAD |
|
|
CA10156911 rs776731685 |
701 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322726328 rs893365411 |
702 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1601963996 CA410990065 |
704 | S>N | No |
ClinGen Ensembl |
|
|
CA10156939 rs375842915 |
707 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1479847593 CA410990116 |
709 | Q>H | No |
ClinGen gnomAD |
|
|
CA410990143 rs1347370715 |
713 | S>A | No |
ClinGen gnomAD |
|
|
CA10156940 rs755807901 |
713 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156943 rs533760799 |
714 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10156944 rs373305837 |
715 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376386572 CA10156945 COSM1265470 COSM1265469 |
715 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10156947 rs773207563 |
719 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs555869365 CA10156948 |
719 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1440549650 CA410990191 |
721 | H>R | No |
ClinGen TOPMed |
|
|
CA410990189 rs1344796762 |
721 | H>Y | No |
ClinGen gnomAD |
|
|
rs1402950174 CA410990196 |
722 | S>G | No |
ClinGen gnomAD |
|
|
CA10156949 rs574160335 |
722 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410990202 rs990903907 |
723 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA322727300 rs990903907 |
723 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA10156951 rs762948223 |
724 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410990233 rs1292879143 |
727 | S>N | No |
ClinGen gnomAD |
|
|
CA410990230 rs1224234811 |
727 | S>R | No |
ClinGen gnomAD |
|
|
CA410990242 rs1239571809 |
728 | T>I | No |
ClinGen TOPMed |
|
|
rs915344083 CA322727310 |
728 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA410990245 rs1265467578 |
729 | Q>* | No |
ClinGen gnomAD |
|
|
CA10156972 rs762208193 |
730 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156973 rs772592836 |
731 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA10156974 rs772592836 |
731 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1307428414 CA410990452 |
733 | S>F | No |
ClinGen TOPMed |
|
|
CA410990461 rs1282268985 |
735 | D>A | No |
ClinGen gnomAD |
|
|
rs950713856 CA322729601 |
735 | D>E | No |
ClinGen gnomAD |
|
|
CA10156975 rs144859640 |
735 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410990460 rs144859640 |
735 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410990468 rs1204588300 |
736 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs753472031 CA10156977 |
742 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410990514 rs759295531 |
743 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10156978 rs759295531 |
743 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1325606225 CA410990549 |
745 | R>S | No |
ClinGen TOPMed |
|
|
rs758218682 CA10156981 |
749 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1569168876 CA410990639 |
751 | P>S | No |
ClinGen Ensembl |
|
|
CA10156983 rs751344212 |
752 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs373981289 CA10156984 |
755 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs781201434 CA10156985 |
756 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA322729688 rs980603823 |
759 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA10156988 rs778812786 |
761 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1321692351 CA410990785 |
762 | T>A | No |
ClinGen gnomAD |
|
|
rs377652671 CA10156989 |
763 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1389000667 CA410990802 |
763 | C>S | No |
ClinGen TOPMed |
|
|
CA410990847 rs1601968725 |
766 | D>E | No |
ClinGen Ensembl |
|
|
CA10156990 rs371238022 |
767 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10156991 rs371238022 |
767 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs552568092 CA10156993 |
768 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777089994 CA10156994 |
769 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270943241 CA410990877 |
769 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10156995 rs759088909 |
770 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs764964459 CA10156996 |
771 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10156998 rs762568309 |
773 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763756832 CA10156999 |
775 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1409723043 CA410991361 |
777 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs757300517 CA10157001 |
778 | G>R | No |
ClinGen ExAC |
|
|
rs767402778 CA10157002 |
780 | S>P | No |
ClinGen ExAC gnomAD |
|
|
COSM579898 rs750258760 CA10157003 COSM1142971 |
783 | S>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA410991408 rs1282757259 |
785 | P>A | No |
ClinGen gnomAD |
|
|
CA10157004 rs755118097 |
788 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA410991447 rs748115980 |
791 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA10157006 rs748115980 |
791 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs367637294 CA322729789 |
792 | S>G | No |
ClinGen ESP |
|
|
rs1293588599 CA410991465 |
793 | V>A | No |
ClinGen gnomAD |
|
|
CA410991461 rs1193852371 |
793 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10157009 rs747479512 |
796 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA10157008 rs777891959 |
796 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776810655 CA410991496 |
798 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776810655 CA10157011 |
798 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157010 rs535041194 |
798 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA10157012 rs374399542 |
800 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374399542 CA10157013 |
800 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1474186276 CA410991510 |
801 | P>A | No |
ClinGen gnomAD |
|
|
rs775197600 CA10157014 |
801 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 802 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774658152 CA10157017 |
802 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM444791 COSM1484116 rs774658152 CA10157016 |
802 | T>M | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
VAR_031834 rs6004350 CA10157015 |
802 | T>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA410991523 rs1363844637 |
804 | L>M | No |
ClinGen gnomAD |
|
|
CA410991527 rs1569169108 |
804 | L>P | No |
ClinGen Ensembl |
|
|
CA410991529 rs1383985763 |
805 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767525983 CA10157019 |
805 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10157020 rs554716852 |
806 | P>L | No |
ClinGen 1000Genomes ExAC |
|
|
CA10157021 rs755953868 |
809 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA10157022 rs766143259 |
810 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1486593009 CA410991567 |
811 | V>A | No |
ClinGen gnomAD |
|
|
CA322729861 rs375076898 |
811 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10157025 rs558294254 |
815 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751660057 CA10157026 |
816 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs77925216 CA322729873 |
817 | S>I | No |
ClinGen 1000Genomes |
|
|
CA10157028 rs781723727 |
819 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10157029 rs746160025 |
819 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs770192936 CA10157030 |
820 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs768449866 CA10157033 |
824 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 824 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410991657 rs1384281541 |
825 | E>K | No |
ClinGen gnomAD |
|
|
rs773963986 CA10157034 |
826 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289019741 CA410991671 |
827 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1289019741 CA410991672 |
827 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs138542952 CA10157036 |
828 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM267414 rs1354922959 CA410991677 |
828 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA10157039 rs574293619 |
833 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574293619 CA10157038 |
833 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753678214 CA10157040 |
834 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1259665769 CA410991713 |
834 | Q>P | No |
ClinGen gnomAD |
|
|
CA10157041 rs763112890 |
835 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs753626320 CA322729967 |
836 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA410991737 rs1462098823 |
838 | E>K | No |
ClinGen gnomAD |
|
|
rs751570163 CA10157043 |
838 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs370131092 CA410991783 |
844 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10157046 rs372518036 |
845 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10157047 rs756629340 |
846 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410991805 rs1407102389 |
847 | M>I | No |
ClinGen gnomAD |
|
|
CA410991800 rs1178919815 |
847 | M>V | No |
ClinGen gnomAD |
|
|
rs1474301279 CA410991808 |
848 | D>N | No |
ClinGen TOPMed |
|
|
rs563457086 CA10157049 |
849 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs768360262 CA10157050 |
850 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157051 rs778723735 |
851 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157054 rs771603488 |
852 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10157053 rs747870465 |
852 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs376575281 CA10157055 |
854 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA410991882 rs1201333529 |
859 | M>V | No |
ClinGen gnomAD |
|
|
rs1254658204 CA410991891 |
860 | A>S | No |
ClinGen gnomAD |
|
|
rs1039190954 CA322730045 |
863 | E>A | No |
ClinGen Ensembl |
|
|
rs764241355 CA10157060 |
863 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471687844 CA410991925 |
865 | D>G | No |
ClinGen gnomAD |
|
|
CA10157062 rs377647018 |
866 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA322730049 rs377647018 |
866 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10157066 rs750492005 |
869 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA10157068 rs2073201 VAR_031835 |
873 | R>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA410991980 rs2073201 |
873 | R>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754199852 CA10157069 |
874 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA410991988 rs754199852 |
874 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA410992004 rs1205654139 |
876 | E>D | No |
ClinGen gnomAD |
|
|
rs747803377 CA10157072 |
876 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10157074 rs777284336 |
878 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410992012 rs1482375363 |
878 | E>K | No |
ClinGen gnomAD |
|
|
CA410992031 rs1490201756 |
880 | H>R | No |
ClinGen gnomAD |
|
|
CA410992035 rs1240794845 |
881 | G>S | No |
ClinGen TOPMed |
|
|
CA410992053 rs143521945 |
883 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10157075 rs143521945 |
883 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776560671 CA10157077 |
884 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA410992055 rs1429273373 |
884 | D>H | No |
ClinGen gnomAD |
|
|
CA10157078 rs745861489 |
885 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769547311 CA10157079 |
885 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1288546780 CA410992080 |
887 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs775314441 CA10157081 |
888 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775314441 CA10157080 |
888 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410992087 rs1433653569 |
888 | N>K | No |
ClinGen gnomAD |
|
|
rs767665554 CA10157082 |
888 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10157083 rs371572121 |
889 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10157085 rs148007895 |
890 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410992105 rs1340443052 |
891 | E>D | No |
ClinGen gnomAD |
|
|
CA410992112 rs1439013233 |
892 | E>D | No |
ClinGen TOPMed |
|
|
CA10157088 rs765672296 |
892 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1322252446 CA410992106 |
892 | E>K | No |
ClinGen TOPMed |
|
|
CA410992115 rs1293126654 |
893 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1293126654 CA410992113 |
893 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs957456608 CA322730126 |
895 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs957456608 CA410992128 |
895 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1569169565 CA410992142 |
896 | E>D | No |
ClinGen Ensembl |
|
|
CA10157089 rs200045790 |
899 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10157090 rs758025212 |
900 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1486329619 CA410992172 |
901 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1186106872 CA410992181 |
903 | A>P | No |
ClinGen gnomAD |
|
|
rs368296376 CA10157091 |
906 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1392448753 CA410992201 |
906 | A>V | No |
ClinGen TOPMed |
|
|
CA410992232 rs1227396312 |
912 | N>H | No |
ClinGen gnomAD |
|
|
rs1487305779 CA410992236 |
912 | N>S | No |
ClinGen TOPMed |
|
|
rs1403468660 CA410992242 |
913 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 913 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403468660 CA410992240 |
913 | E>K | No |
ClinGen gnomAD |
|
|
CA322730134 rs1020782511 |
914 | V>A | No |
ClinGen TOPMed |
|
|
CA410992250 rs1160670314 |
914 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA410992248 rs1160670314 |
914 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs568630209 CA10157094 |
915 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1344785038 CA410992264 |
917 | V>M | No |
ClinGen gnomAD |
|
|
COSM1032770 CA10157097 COSM1153981 rs769748291 |
921 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772283914 CA10157100 |
922 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410992301 rs1356279899 |
923 | T>A | No |
ClinGen gnomAD |
|
|
rs1569169668 CA410992309 |
924 | Y>C | No |
ClinGen Ensembl |
|
|
CA322730173 rs964689895 |
924 | Y>N | No |
ClinGen Ensembl |
|
|
rs1218859357 CA410992412 |
926 | P>A | No |
ClinGen TOPMed |
|
|
CA322731936 rs1052491117 |
926 | P>L | No |
ClinGen gnomAD |
|
|
CA10157126 rs537501741 |
930 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10157128 rs763584125 |
933 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410992478 rs1409685494 |
936 | L>R | No |
ClinGen gnomAD |
|
|
rs1286553491 CA410992484 |
937 | H>R | No |
ClinGen gnomAD |
|
|
rs1400432636 CA410992481 |
937 | H>Y | No |
ClinGen TOPMed |
|
|
rs751977222 CA10157130 |
938 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10157131 rs761415497 |
938 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157132 rs761415497 |
938 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410992492 rs1274475663 |
939 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA410992491 rs1274475663 |
939 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1457543789 CA410992497 |
940 | E>K | No |
ClinGen TOPMed |
|
|
rs753690975 CA10157136 |
943 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs985427295 CA322731992 |
944 | Q>E | No |
ClinGen TOPMed |
|
|
rs143072147 CA410992531 |
944 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1270462852 CA410992558 |
948 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs781577061 CA10157141 |
949 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157142 rs781577061 |
949 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771209214 CA10157140 |
949 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1265653283 CA410992580 |
951 | W>* | No |
ClinGen TOPMed |
|
|
rs769758299 CA10157143 |
951 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA410992591 rs1215076382 |
953 | F>L | No |
ClinGen TOPMed |
|
|
rs370742946 CA10157144 |
954 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774633279 CA10157147 |
956 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 957 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10157148 rs762180950 |
962 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1229824818 CA410992658 |
963 | N>D | No |
ClinGen gnomAD |
|
|
rs1270584778 CA410992667 |
964 | I>V | No |
ClinGen gnomAD |
|
|
rs1226152345 CA410992678 |
965 | M>I | No |
ClinGen gnomAD |
|
|
rs767930348 CA10157149 |
965 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs772850041 CA10157150 |
966 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs931487880 CA322732044 |
967 | S>G | No |
ClinGen TOPMed |
|
|
rs1359616066 CA410992690 |
967 | S>N | No |
ClinGen gnomAD |
|
|
rs1302956459 CA410993582 |
969 | I>L | No |
ClinGen gnomAD |
|
|
CA410993649 rs751432195 |
973 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157176 rs751432195 |
973 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1005349929 CA322734392 |
975 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs780337659 CA10157178 |
976 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310457877 CA410993732 |
980 | G>S | No |
ClinGen gnomAD |
|
|
rs1200048068 CA410993768 |
982 | C>W | No |
ClinGen TOPMed |
|
| TCGA novel | 985 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410993830 rs1331093729 |
988 | L>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 990 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61742274 CA10157180 |
991 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1264589028 CA410993868 |
992 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 993 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1032772 CA10157201 rs778918440 COSM1592899 |
995 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA410994599 COSM1720403 rs1195272356 COSM1720404 |
996 | A>V | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1414338665 CA410994615 |
998 | A>T | No |
ClinGen gnomAD |
|
|
CA10157202 rs562640592 |
998 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA322739866 rs745665003 |
1001 | C>S | No |
ClinGen TOPMed |
|
|
rs758832336 CA10157203 |
1003 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1004 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747525019 CA10157205 CA410994737 |
1006 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1361315991 CA410994728 |
1006 | M>L | No |
ClinGen TOPMed |
|
|
CA410994744 rs1227868076 |
1007 | K>N | No |
ClinGen TOPMed |
|
|
CA410994741 rs1272775474 |
1007 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 1009 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10157206 rs771321195 |
1010 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157207 rs545255105 |
1012 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10157208 rs745510954 CA410994796 |
1013 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1015 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1271954029 | 1015 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410994825 rs1167860576 |
1016 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1369035934 CA410994841 |
1017 | G>C | No |
ClinGen TOPMed |
|
|
rs867336933 CA322740026 |
1018 | A>D | No |
ClinGen Ensembl |
|
|
rs762566387 CA10157211 |
1018 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410994863 rs1366485090 |
1019 | M>V | No |
ClinGen gnomAD |
|
|
rs1384666810 CA410994895 |
1021 | T>A | No |
ClinGen gnomAD |
|
|
rs768341651 CA10157212 |
1021 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377060503 CA410994909 |
1022 | H>Y | No |
ClinGen TOPMed |
|
|
rs1408881940 CA410994922 |
1023 | F>L | No |
ClinGen gnomAD |
|
|
CA322740050 rs199780735 |
1024 | A>V | No |
ClinGen TOPMed |
|
|
rs1274533726 CA410995002 |
1028 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA410995005 rs1274533726 |
1028 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1028 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410995573 rs1223482317 |
1033 | L>Q | No |
ClinGen gnomAD |
|
|
CA410995578 rs1363674299 |
1034 | D>Y | No |
ClinGen gnomAD |
|
|
rs779841014 CA10157231 |
1036 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10157233 rs760856523 |
1038 | F>L | No |
ClinGen ExAC |
|
|
CA410995609 rs1321179024 |
1039 | E>Q | No |
ClinGen gnomAD |
|
|
CA410995626 rs1262712160 |
1041 | M>T | No |
ClinGen gnomAD |
|
|
CA10157235 rs748072090 |
1042 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1043 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410995654 rs1245908142 |
1045 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA10157237 rs372634005 |
1051 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766216582 CA10157239 |
1052 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10157240 rs775682390 |
1055 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA410995732 rs1388940370 |
1055 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10157241 rs763200983 |
1057 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950600154 CA322743974 |
1057 | F>Y | No |
ClinGen TOPMed |
|
|
rs751612190 CA10157243 COSM1592897 COSM1032774 |
1063 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs770678702 CA10157259 |
1066 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157261 COSM1484119 COSM444794 rs201954600 |
1070 | V>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10157262 rs764253203 |
1071 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA410995862 rs1602000309 |
1073 | V>F | No |
ClinGen Ensembl |
|
|
CA410995906 rs1440662449 |
1079 | A>T | No |
ClinGen gnomAD |
|
|
CA410995909 rs1207175165 |
1079 | A>V | No |
ClinGen gnomAD |
|
|
CA410995926 rs1263420729 |
1082 | H>D | No |
ClinGen TOPMed |
|
|
rs370471505 CA410995931 |
1082 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1263420729 CA410995927 |
1082 | H>Y | No |
ClinGen TOPMed |
|
|
CA10157265 rs200716605 |
1083 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410995946 rs1270604720 |
1085 | S>A | No |
ClinGen gnomAD |
|
|
COSM1415283 COSM1415284 CA10157267 rs376703589 |
1086 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA410995959 rs1413303248 |
1087 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778440333 CA10157271 |
1089 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157272 rs747889393 CA410995987 |
1091 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10157273 rs757838730 |
1093 | A>V | No |
ClinGen ExAC |
|
|
CA10157276 rs770876563 |
1096 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs780924490 CA10157277 |
1099 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342585446 CA410996031 |
1099 | V>F | No |
ClinGen gnomAD |
|
|
COSM3405556 COSM3405557 rs200983507 CA10157279 |
1101 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs774432748 CA10157280 |
1101 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200983507 CA410996042 |
1101 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10157282 rs772024107 |
1102 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10157281 rs762137385 |
1102 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197681426 CA410996053 |
1103 | I>V | No |
ClinGen gnomAD |
|
|
rs1246536404 CA410996099 |
1109 | M>V | No |
ClinGen gnomAD |
|
|
rs1452944242 CA410996112 |
1110 | D>E | No |
ClinGen gnomAD |
|
|
CA410996123 rs1602000518 |
1112 | T>A | No |
ClinGen Ensembl |
|
|
CA322745003 rs1046550343 |
1112 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10157284 rs761227413 |
1113 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA410996128 rs773450947 |
1113 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773450947 CA10157283 |
1113 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766312504 CA322745014 |
1116 | K>I | No |
ClinGen gnomAD |
|
|
CA410996151 rs766312504 |
1116 | K>R | No |
ClinGen gnomAD |
|
|
rs772525582 COSM3693978 CA322745021 COSM183489 |
1117 | F>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1321017010 CA410996770 |
1124 | R>* | No |
ClinGen gnomAD |
|
|
CA10157301 rs773363033 |
1124 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410996792 rs1371116809 |
1127 | T>I | No |
ClinGen TOPMed |
|
|
CA10157305 rs760126657 |
1131 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA410996834 rs1208920628 |
1134 | A>T | No |
ClinGen gnomAD |
|
|
CA322747221 rs768990070 |
1134 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1464720029 CA410996840 |
1135 | R>W | No |
ClinGen gnomAD |
|
|
rs1258882918 CA410996860 |
1138 | V>L | No |
ClinGen gnomAD |
|
|
rs1186963443 CA410996873 |
1140 | K>E | No |
ClinGen gnomAD |
|
|
CA10157311 rs756756146 |
1145 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410996925 rs1463395921 |
1147 | N>K | No |
ClinGen TOPMed |
|
|
rs1602005710 CA410996941 |
1149 | K>W | No |
ClinGen Ensembl |
No associated diseases with Q2NKQ1
4 regional properties for Q2NKQ1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ATP-citrate lyase/succinyl-CoA ligase | 272 - 391 | IPR005811 |
| domain | ATP-grasp fold | 9 - 239 | IPR011761 |
| domain | ATP-grasp fold, succinyl-CoA synthetase-type | 2 - 212 | IPR013650 |
| conserved_site | Succinyl-CoA synthetase, beta subunit, conserved site | 267 - 291 | IPR017866 |
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| small GTPase binding | Binding to a small monomeric GTPase. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
26 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A0A087X1G2 | TBC1D3K | TBC1 domain family member 3K | Homo sapiens (Human) | PR |
| B9A6J9 | TBC1D3L | TBC1 domain family member 3L | Homo sapiens (Human) | PR |
| Q8WUA7 | TBC1D22A | TBC1 domain family member 22A | Homo sapiens (Human) | PR |
| Q8IZP1 | TBC1D3 | TBC1 domain family member 3 | Homo sapiens (Human) | PR |
| Q6IPX1 | TBC1D3C | TBC1 domain family member 3C | Homo sapiens (Human) | PR |
| A0A087WVF3 | TBC1D3D | TBC1 domain family member 3D | Homo sapiens (Human) | PR |
| A6NER0 | TBC1D3F | TBC1 domain family member 3F | Homo sapiens (Human) | PR |
| A0A087WXS9 | TBC1D3I | TBC1 domain family member 3I | Homo sapiens (Human) | PR |
| Q6DHY5 | TBC1D3G | TBC1 domain family member 3G | Homo sapiens (Human) | PR |
| A0A087X179 | TBC1D3E | TBC1 domain family member 3E | Homo sapiens (Human) | PR |
| P0C7X1 | TBC1D3H | TBC1 domain family member 3H | Homo sapiens (Human) | PR |
| A6NDS4 | TBC1D3B | TBC1 domain family member 3B | Homo sapiens (Human) | PR |
| Q8IV04 | TBC1D10C | Carabin | Homo sapiens (Human) | PR |
| Q5TC63 | GRTP1 | Growth hormone-regulated TBC protein 1 | Homo sapiens (Human) | PR |
| O60343 | TBC1D4 | TBC1 domain family member 4 | Homo sapiens (Human) | PR |
| Q86TI0 | TBC1D1 | TBC1 domain family member 1 | Homo sapiens (Human) | PR |
| O60447 | EVI5 | Ecotropic viral integration site 5 protein homolog | Homo sapiens (Human) | PR |
| Q3MII6 | TBC1D25 | TBC1 domain family member 25 | Homo sapiens (Human) | PR |
| Q9HA65 | TBC1D17 | TBC1 domain family member 17 | Homo sapiens (Human) | PR |
| Q8TC07 | TBC1D15 | TBC1 domain family member 15 | Homo sapiens (Human) | PR |
| O95759 | TBC1D8 | TBC1 domain family member 8 | Homo sapiens (Human) | PR |
| Q0IIM8 | TBC1D8B | TBC1 domain family member 8B | Homo sapiens (Human) | PR |
| Q66K14 | TBC1D9B | TBC1 domain family member 9B | Homo sapiens (Human) | PR |
| Q6ZT07 | TBC1D9 | TBC1 domain family member 9 | Homo sapiens (Human) | PR |
| Q8TEA7 | TBCK | TBC domain-containing protein kinase-like protein | Homo sapiens (Human) | PR |
| Q9UPU7 | TBC1D2B | TBC1 domain family member 2B | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASAPAEAET | RQRLLRTVKK | EVKQIMEEAV | TRKFVHEDSS | HIISFCAAVE | ACVLHGLRRR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AAGFLRSNKI | AALFMKVGKN | FPPAEDLSRK | VQDLEQLIES | ARNQIQGLQE | NVRKLPKLPN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LSPLAIKHLW | IRTALFEKVL | DKIVHYLVEN | SSKYYEKEAL | LMDPVDGPIL | ASLLVGPCAL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EYTKMKTADH | FWTDPSADEL | VQRHRIHSSH | VRQDSPTKRP | ALCIQKRHSS | GSMDDRPSLS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ARDYVESLHQ | NSRATLLYGK | NNVLVQPRDD | MEAVPGYLSL | HQTADVMTLK | WTPNQLMNGS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VGDLDYEKSV | YWDYAMTIRL | EEIVYLHCHQ | QVDSGGTVVL | VSQDGIQRPP | FRFPKGGHLL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QFLSCLENGL | LPHGQLDPPL | WSQRGKGKVF | PKLRKRSPQG | SAESTSSDKD | DDEATDYVFR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IIYPGMQSEF | VAPDFLGSTS | SVSVGPAWMM | VPAGRSMLVV | ARGSQWEPAR | WDTTLPTPSP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KEQPPMPQDL | MDVSVSNLPS | LWQPSPRKSS | CSSCSQSGSA | DGSSTNGCNH | ERAPLKLLCD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NMKYQILSRA | FYGWLAYCRH | LSTVRTHLSA | LVNHMIVSPD | LPCDAGQGLT | ARIWEQYLHD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| STSYEEQELL | RLIYYGGIQP | EIRKAVWPFL | LGHYQFGMTE | TERKEVDEQI | HACYAQTMAE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| WLGCEAIVRQ | RERESHAAAL | AKCSSGASLD | SHLHRMLHRD | STISNESSQS | CSSGRQNIRL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| HSDSSSSTQV | FESVDEVEQV | EAEGRLEEKQ | PKIPNGNLVN | GTCSPDSGHP | SSHNFSSGLS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EHSEPSLSTE | DSVLDAQRNT | PTVLRPRDGS | VDDRQSSEAT | TSQDEAPREE | LAVQDSLESD |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LLANESMDEF | MSITGSLDMA | LPEKDDVVME | GWRSSETEKH | GQADSEDNLS | EEPEMESLFP |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ALASLAVTTS | ANEVSPVSSS | GVTYSPELLD | LYTVNLHRIE | KDVQRCDRNY | WYFTPANLEK |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LRNIMCSYIW | QHIEIGYVQG | MCDLLAPLLV | ILDDEALAFS | CFTELMKRMN | QNFPHGGAMD |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| THFANMRSLI | QILDSELFEL | MHQNGDYTHF | YFCYRWFLLD | FKRELVYDDV | FLVWETIWAA |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| KHVSSAHYVL | FIALALVEVY | RDIILENNMD | FTDIIKFFNE | MAERHNTKQV | LKLARDLVYK |
| VQTLIENK |