Q14764
PR
Gene name |
MVP (LRP) |
Protein name |
Major vault protein |
Names |
MVP, Lung resistance-related protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9961 |
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
2 structures for Q14764
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1Y7X | NMR | - | A | 113-221 | PDB |
| AF-Q14764-F1 | Predicted | AlphaFoldDB |
718 variants for Q14764
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000901373 rs71389430 CA7995147 RCV002542057 |
262 | D>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA395489032 rs1407950301 |
2 | A>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 4 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 5 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280427972 rs1001579118 |
7 | I>L | No |
ClinGen Ensembl |
|
|
rs1156399412 CA395489112 |
8 | I>V | No |
ClinGen gnomAD |
|
|
CA7994893 rs776987609 |
9 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs762150769 CA7994894 |
9 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762150769 CA395489150 |
9 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7994895 rs762150769 |
9 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758443196 CA7994897 |
11 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs546375716 CA395489197 |
12 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 12 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1349868353 CA395489202 |
12 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395489199 rs1349868353 |
12 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA280427993 rs546375716 |
12 | P>T | No |
ClinGen gnomAD |
|
|
rs751664054 CA280428026 |
13 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200479201 CA7994900 |
14 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395489359 rs1199899522 |
21 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1276795636 CA395489379 |
22 | N>S | No |
ClinGen gnomAD |
|
|
CA7994902 rs747959219 |
25 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7994904 rs142997389 RCV000959286 |
27 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs142997389 CA395489495 |
27 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771013378 CA7994906 |
30 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7994907 CA395489568 rs138217857 |
31 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395489598 rs1204901850 |
33 | K>E | No |
ClinGen gnomAD |
|
|
rs563366288 CA280428076 |
34 | T>A | No |
ClinGen 1000Genomes |
|
|
CA7994908 rs745376645 |
35 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA395489670 rs1322126469 |
36 | I>F | No |
ClinGen TOPMed |
|
|
rs771750662 CA7994909 |
36 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA395489700 rs775063563 |
37 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7994910 rs775063563 |
37 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA395489686 rs1391135647 COSM969652 |
37 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1391137927 CA395489715 |
38 | Q>* | No |
ClinGen TOPMed |
|
|
rs1273118041 CA395489730 |
39 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA395489733 rs1273118041 |
39 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1442878516 CA395489770 |
40 | N>K | No |
ClinGen gnomAD |
|
|
CA280428364 rs1003194499 |
45 | F>L | No |
ClinGen TOPMed |
|
|
CA7994931 rs200811624 |
46 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs143032055 CA7994933 |
48 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374182340 CA7994934 |
49 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1215986 CA7994935 rs560872333 |
49 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA395490028 rs374182340 |
49 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148190767 CA7994940 RCV000906024 |
53 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 53 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778972951 CA7994941 |
54 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375033217 CA395490153 |
55 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7994942 rs375033217 |
55 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7994943 rs141230585 |
56 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146206640 CA7994944 |
56 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156571672 CA622165008 |
57 | H>A | No |
ClinGen gnomAD |
|
|
CA395490264 rs1268096165 |
63 | N>D | No |
ClinGen TOPMed |
|
|
rs1263039301 CA395490280 |
64 | P>A | No |
ClinGen gnomAD |
|
|
rs1025528788 CA280428508 |
64 | P>L | No |
ClinGen TOPMed |
|
|
rs1263039301 CA395490277 |
64 | P>T | No |
ClinGen gnomAD |
|
|
CA7994946 rs201797714 |
67 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746545141 CA7994945 |
67 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780893884 CA7994947 |
69 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7994948 rs749642855 |
71 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1205183254 CA395490390 |
72 | L>* | No |
ClinGen gnomAD |
|
|
rs1256377088 CA395490394 |
72 | L>F | No |
ClinGen gnomAD |
|
|
CA7994949 rs771322173 |
75 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7994950 rs138441952 |
76 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395490486 rs1386563348 |
79 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1470958346 CA395490535 |
81 | V>A | No |
ClinGen gnomAD |
|
|
COSM1377267 rs142974213 CA7994954 |
82 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA280428552 COSM110525 rs138803463 |
82 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
COSM3937025 CA7994956 rs146114293 |
84 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7994957 rs564479340 |
84 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754161146 CA7994958 |
86 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs754161146 CA7994959 |
86 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| VAR_079710 | 87 | D>E | No | UniProt | |
|
CA395490607 rs1567389229 |
88 | L>V | No |
ClinGen Ensembl |
|
|
rs914860554 CA280428582 |
89 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs765084274 CA7994960 |
89 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765084274 CA7994961 |
89 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA280428588 rs921971987 |
90 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7994963 rs137950833 |
91 | R>Q | Variant assessed as Somatic; 4.71e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM135704 CA7994962 rs758212695 |
91 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA395490642 rs1179966870 |
93 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA395490655 rs1244595945 |
94 | Q>* | No |
ClinGen TOPMed |
|
|
CA395490664 rs1299413605 |
95 | D>N | No |
ClinGen TOPMed |
|
|
rs780787741 CA395490698 |
98 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780787741 CA7994967 |
98 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7994966 rs754544174 |
98 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747754903 CA7994968 |
101 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs763814505 CA280428644 |
102 | G>E | No |
ClinGen Ensembl |
|
|
rs1371569619 CA395490738 |
103 | E>G | No |
ClinGen gnomAD |
|
|
rs755783307 CA280428651 |
103 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755783307 CA7994969 |
103 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315536371 CA395490750 |
104 | V>A | No |
ClinGen TOPMed |
|
|
rs1315536371 CA395490752 |
104 | V>G | No |
ClinGen TOPMed |
|
|
CA395490747 rs1555504270 |
104 | V>L | No |
ClinGen Ensembl |
|
|
rs1347920065 CA395490753 |
105 | L>V | No |
ClinGen gnomAD |
|
|
rs1301356689 CA395490766 |
106 | E>D | No |
ClinGen gnomAD |
|
|
CA7994971 rs746246596 |
106 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1311310093 CA395490776 |
107 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1480649794 CA395490773 |
107 | K>R | No |
ClinGen gnomAD |
|
|
rs1412314361 CA395491959 |
108 | D>A | No |
ClinGen gnomAD |
|
|
CA395491953 rs1181615527 |
108 | D>Y | No |
ClinGen gnomAD |
|
|
rs776796444 CA7994994 |
109 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA395492004 rs1388742653 |
110 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA395491995 rs1388742653 |
110 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7994995 rs748244980 |
111 | P>L | No |
ClinGen ExAC |
|
|
CA395492008 rs1456184192 |
111 | P>T | No |
ClinGen gnomAD |
|
|
rs766154045 CA7994999 |
117 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7995002 rs767445178 |
119 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7995003 rs752196372 |
122 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395492403 COSM969654 rs1443182639 |
125 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA395492508 rs1567390482 |
130 | E>K | No |
ClinGen Ensembl |
|
|
CA395492565 rs1236073486 |
131 | D>V | No |
ClinGen gnomAD |
|
|
rs763630916 CA7995005 |
132 | K>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 134 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7995006 rs753568039 |
134 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs556282001 CA7995007 COSM184867 |
136 | K>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7995009 rs751987991 |
138 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7995011 rs781782342 |
141 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA7995013 rs769970084 |
143 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA7995015 rs376368329 |
146 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771067539 CA7995016 |
147 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1273319857 CA395492951 |
150 | T>A | No |
ClinGen gnomAD |
|
|
CA280430833 rs771974873 |
150 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771974873 CA7995034 |
150 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995037 rs773501208 |
151 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280430840 rs773501208 |
151 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280430849 rs902238887 |
152 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA280430851 rs1031547403 |
152 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1302893095 CA395492995 |
153 | P>L | No |
ClinGen gnomAD |
|
|
CA7995040 rs149841421 |
154 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7995041 rs144701925 |
154 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7995039 rs149841421 |
154 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 157 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773051873 CA7995044 |
159 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145483127 CA7995045 |
160 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7995046 rs576751686 |
164 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1163108639 CA395493237 |
167 | I>M | No |
ClinGen Ensembl |
|
|
rs756573936 CA7995048 |
167 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1276142661 CA395493247 |
168 | I>F | No |
ClinGen TOPMed |
|
| TCGA novel | 169 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7995049 rs764572278 |
171 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1391186699 CA395493334 |
171 | N>K | No |
ClinGen gnomAD |
|
|
rs1436106267 CA395493382 |
173 | A>V | No |
ClinGen gnomAD |
|
|
rs1225103437 CA395493389 |
174 | L>Q | No |
ClinGen TOPMed |
|
|
CA7995052 rs370201976 |
175 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370201976 CA7995051 |
175 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753938190 CA7995050 |
175 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA395493442 rs1596916909 |
177 | R>T | No |
ClinGen Ensembl |
|
|
CA280430958 rs562263148 |
178 | A>T | No |
ClinGen 1000Genomes |
|
|
rs746050112 CA7995053 |
179 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7995055 rs758642200 COSM702679 |
179 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs758642200 CA7995054 |
179 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746785298 CA7995056 |
180 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995057 rs202194007 |
181 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147696965 CA7995059 |
182 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7995058 rs200392934 |
182 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395493551 rs1246986853 |
183 | W>R | No |
ClinGen gnomAD |
|
|
rs769471740 CA7995060 |
185 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7995062 rs762649792 |
187 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395493669 rs1178711015 |
188 | K>* | No |
ClinGen TOPMed |
|
|
rs1596918726 CA395494704 |
195 | E>D | No |
ClinGen Ensembl |
|
|
rs750488218 CA7995091 |
196 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA7995092 rs763085962 |
198 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA395494783 rs1392283893 |
200 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 201 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395494791 rs1434911109 |
201 | V>L | No |
ClinGen gnomAD |
|
|
rs541219592 CA7995095 |
203 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755247776 CA7995096 |
203 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1371785467 CA395494861 |
205 | L>R | No |
ClinGen gnomAD |
|
|
rs752536996 CA395494872 |
206 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7995098 rs752536996 |
206 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs756111485 CA7995099 |
207 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395494886 rs1375585767 |
208 | V>M | No |
ClinGen TOPMed |
|
|
rs1567391453 CA395494942 |
211 | E>D | No |
ClinGen Ensembl |
|
|
CA395494947 rs1289883726 |
212 | V>F | No |
ClinGen gnomAD |
|
|
rs1596918821 CA395494951 |
212 | V>G | No |
ClinGen Ensembl |
|
|
rs1301607313 CA395494959 |
213 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA395494984 rs1276500271 |
216 | V>A | No |
ClinGen gnomAD |
|
|
CA7995101 rs748778623 |
216 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7995103 rs778508731 |
218 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995104 rs778508731 |
218 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145238038 CA7995107 |
219 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7995108 rs762222128 |
221 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395495040 rs762222128 |
221 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA280435124 rs796505619 |
222 | T>M | No |
ClinGen Ensembl |
|
|
CA395495213 rs1484840631 |
225 | T>A | No |
ClinGen gnomAD |
|
|
rs1567391942 CA395495236 |
227 | L>V | No |
ClinGen Ensembl |
|
|
CA395495243 rs150165807 |
228 | H>N | No |
ClinGen ESP TOPMed |
|
|
rs1596919907 CA395495247 |
228 | H>P | No |
ClinGen Ensembl |
|
|
CA280436035 rs150165807 |
228 | H>Y | No |
ClinGen ESP TOPMed |
|
|
CA395495261 rs1567391955 |
229 | L>F | No |
ClinGen Ensembl |
|
|
CA280436046 rs771610931 |
230 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995125 rs771610931 COSM1197383 |
230 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs920606246 CA7995123 |
230 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs779823147 CA7995126 |
232 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748479297 CA7995128 |
233 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280436061 rs138398827 |
233 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7995129 rs770191827 |
234 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395495347 rs1567391994 |
235 | F>C | No |
ClinGen Ensembl |
|
|
rs374900434 CA7995132 |
236 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374900434 CA7995131 |
236 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773587439 CA7995130 |
236 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774234293 CA7995133 |
238 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759732369 CA7995134 |
240 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA395495437 rs1596919983 |
241 | V>G | No |
ClinGen Ensembl |
|
|
CA7995135 rs201384895 |
242 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775906473 CA7995136 |
243 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280436096 rs200161527 |
243 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7995137 rs772218851 |
244 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995138 rs561716536 |
244 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395495483 rs561716536 |
244 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1207551306 CA395495535 |
247 | E>K | No |
ClinGen TOPMed |
|
|
CA7995140 rs371196717 |
248 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753691308 CA7995139 |
248 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs926674606 CA280436100 COSM435077 |
249 | W>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7995143 rs749896094 |
251 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs749896094 CA7995142 |
251 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA7995141 rs765277499 |
251 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765277499 CA395495607 |
251 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395495658 rs1473965141 |
253 | V>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 254 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395495672 rs1363623031 |
254 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1441319374 CA395495696 |
256 | T>I | No |
ClinGen TOPMed |
|
|
rs148820007 CA280436119 |
257 | E>G | No |
ClinGen ESP TOPMed |
|
|
CA395495744 CA280436133 rs375864007 |
259 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1412338421 CA395495740 |
259 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779656687 CA7995144 |
259 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596920095 CA395495753 |
260 | V>G | No |
ClinGen Ensembl |
|
|
rs754654323 CA7995146 |
260 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA395495767 rs1452014996 |
262 | D>G | No |
ClinGen gnomAD |
|
|
rs71389430 CA280436144 |
262 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395495795 rs1596920133 |
265 | E>Q | No |
ClinGen Ensembl |
|
|
rs1567392111 CA395495810 |
266 | E>K | No |
ClinGen Ensembl |
|
|
CA7995149 rs771341452 |
268 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA395495835 rs1353450913 |
269 | G>W | No |
ClinGen gnomAD |
|
|
COSM40348 rs1349976611 CA395495888 |
272 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7995152 rs772144926 |
274 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA280436202 rs990919247 |
278 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 279 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183784496 CA395495971 |
279 | H>Y | No |
ClinGen gnomAD |
|
|
rs200624235 CA7995156 |
280 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1596920249 CA395495987 |
280 | N>Y | No |
ClinGen Ensembl |
|
|
rs952084229 CA280436248 |
282 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7995158 COSM3111151 rs765054198 |
283 | V>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs758288435 CA7995160 |
286 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751070897 CA7995162 |
289 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995164 rs368451204 |
290 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7995165 rs368451204 |
290 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395496166 rs1326842881 |
293 | K>N | No |
ClinGen gnomAD |
|
|
rs779170860 CA7995167 |
295 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1234101220 CA395496181 |
295 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs201515105 CA7995168 |
300 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201515105 CA7995169 |
300 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369128566 CA7995170 |
300 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395496211 rs369128566 |
300 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs999935706 CA280436378 |
301 | V>L | No |
ClinGen gnomAD |
|
|
CA280436365 rs999935706 |
301 | V>M | No |
ClinGen gnomAD |
|
|
CA280436396 rs1033126627 |
303 | K>E | No |
ClinGen Ensembl |
|
|
rs748360080 CA7995193 |
304 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs146126800 CA7995192 |
304 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 305 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769909510 CA7995194 |
306 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA280438725 rs1043388132 |
306 | K>R | No |
ClinGen Ensembl |
|
|
rs902442348 CA280438739 |
307 | S>P | No |
ClinGen Ensembl |
|
|
CA395496262 rs1174016067 |
307 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA395496283 rs1391067088 |
310 | L>F | No |
ClinGen gnomAD |
|
|
CA395496285 rs1596923403 |
310 | L>P | No |
ClinGen Ensembl |
|
|
CA395496282 rs1391067088 |
310 | L>V | No |
ClinGen gnomAD |
|
|
CA395496298 rs1318060864 |
312 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA395496304 rs1324993096 |
313 | G>E | No |
ClinGen gnomAD |
|
|
CA7995199 rs774325024 |
314 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334946118 CA395496315 |
315 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA280438765 rs1025894695 |
318 | Q>* | No |
ClinGen TOPMed |
|
|
rs766977155 CA7995201 |
320 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs199670990 CA280438773 |
322 | D>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 323 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752156234 CA7995202 |
323 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA14264733 rs1260791203 |
324 | Y>F | No |
ClinGen gnomAD |
|
|
CA395496390 rs1444997702 |
326 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA7995204 rs1444677208 |
327 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA280438786 rs1034850813 |
329 | Q>* | No |
ClinGen gnomAD |
|
|
rs758873783 CA7995208 |
330 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395496420 CA7995209 rs780684041 |
331 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1414540470 CA395496431 |
333 | L>Q | No |
ClinGen gnomAD |
|
|
rs1596923544 CA395496450 |
336 | A>G | No |
ClinGen Ensembl |
|
|
CA395496463 rs1596923565 |
338 | Q>H | No |
ClinGen Ensembl |
|
|
CA7995214 rs566369687 |
339 | P>A | No |
ClinGen 1000Genomes ExAC |
|
|
CA7995218 rs200010126 |
342 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1290887379 CA395496491 |
343 | G>E | No |
ClinGen gnomAD |
|
|
CA7995220 rs770668275 |
343 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs770668275 CA7995219 |
343 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1239321397 CA395496496 |
344 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs745742496 CA7995222 CA7995221 |
344 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596923629 CA395496504 |
345 | D>G | No |
ClinGen Ensembl |
|
|
CA395496511 rs1348305374 |
346 | E>K | No |
ClinGen gnomAD |
|
|
rs202226894 CA7995226 |
348 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776194835 CA7995227 |
351 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395496589 rs1185639762 |
354 | G>R | No |
ClinGen gnomAD |
|
|
CA7995229 rs766807353 |
356 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA395496624 rs1362259104 |
357 | W>* | No |
ClinGen gnomAD |
|
|
CA395496632 rs1467934222 |
357 | W>C | No |
ClinGen gnomAD |
|
|
COSM969657 rs150899988 CA7995232 |
360 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7995233 rs752813108 |
360 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs150899988 CA280438872 |
360 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375471620 CA7995236 |
361 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7995238 rs749476958 |
362 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs757477394 CA7995239 |
363 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA395496728 rs1346800963 |
367 | P>L | No |
ClinGen gnomAD |
|
|
CA395496789 rs1596923775 |
373 | V>G | No |
ClinGen Ensembl |
|
|
CA280438914 rs909853341 |
374 | V>A | No |
ClinGen gnomAD |
|
|
CA395496795 rs909853341 |
374 | V>G | No |
ClinGen gnomAD |
|
|
CA395496790 rs1481030733 |
374 | V>M | No |
ClinGen gnomAD |
|
|
CA7995243 rs775329852 |
376 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7995244 rs746504343 |
377 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7995245 rs768001513 |
377 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA395496822 rs746504343 |
377 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1171058729 CA395496846 |
379 | A>V | No |
ClinGen gnomAD |
|
|
rs1374117912 CA395496861 |
381 | P>S | No |
ClinGen gnomAD |
|
|
CA395496871 rs1462086589 |
382 | L>R | No |
ClinGen gnomAD |
|
|
CA7995248 rs772820842 |
384 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369258031 CA7995247 |
384 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1596923850 CA395496897 |
385 | N>D | No |
ClinGen Ensembl |
|
|
CA280438972 rs143854115 |
385 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs561686298 CA7995250 |
386 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995251 rs556301357 |
387 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201000564 CA395496955 |
388 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7995252 rs201000564 |
388 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395496994 rs1249699960 |
391 | Q>* | No |
ClinGen gnomAD |
|
|
rs756680511 CA395497015 |
392 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA7995253 rs756680511 |
392 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1467453887 CA395497064 |
395 | T>A | No |
ClinGen gnomAD |
|
|
rs753931360 CA7995255 |
396 | G>R | Variant assessed as Somatic; 6.19e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7995279 rs758676231 |
399 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779647852 CA7995280 |
399 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285160292 CA395497219 |
400 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1285160292 CA395497221 |
400 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs912653664 CA280439683 |
401 | V>M | No |
ClinGen Ensembl |
|
|
CA7995282 rs754855193 |
403 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7995286 rs202086704 |
410 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395497387 rs1467239153 |
412 | E>D | No |
ClinGen TOPMed |
|
|
rs147232925 CA7995288 |
415 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761169305 CA7995290 |
418 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777174123 CA7995292 |
420 | P>S | No |
ClinGen ExAC |
|
|
rs1567394388 CA395498109 |
421 | P>L | No |
ClinGen Ensembl |
|
|
CA395498132 rs1435266862 |
422 | G>E | No |
ClinGen gnomAD |
|
|
rs762332114 CA7995295 |
422 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1046578916 CA280439719 |
423 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1401883766 CA395498155 |
424 | E>K | No |
ClinGen TOPMed |
|
|
rs1280401850 CA395498170 |
425 | E>K | No |
ClinGen gnomAD |
|
|
CA7995298 rs763028077 |
429 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA395498255 rs1222485016 |
430 | G>R | No |
ClinGen gnomAD |
|
|
CA7995300 rs574007854 |
432 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395498309 rs1205972910 |
433 | P>L | No |
ClinGen gnomAD |
|
|
CA7995302 rs767537716 |
433 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7995303 rs752629964 |
434 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1567394443 CA395498321 |
435 | A>S | No |
ClinGen Ensembl |
|
|
CA7995304 rs756127930 |
435 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1396694700 CA395498350 |
437 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1454513002 CA395498357 |
438 | G>S | No |
ClinGen gnomAD |
|
|
CA280439755 rs376467627 |
440 | K>R | No |
ClinGen Ensembl |
|
|
CA280439761 rs111357830 |
444 | K>R | No |
ClinGen Ensembl |
|
|
rs541296428 CA7995307 |
450 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395498622 rs1372213366 |
451 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7995311 rs768962832 |
452 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768962832 CA7995312 |
452 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372484922 CA7995310 |
452 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs904948593 CA280439780 |
455 | T>A | No |
ClinGen Ensembl |
|
|
CA7995313 COSM1377271 rs114581451 |
456 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7995314 rs770298393 |
456 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773150912 CA7995315 |
458 | V>I | No |
ClinGen ExAC |
|
|
CA395498832 rs1196393603 |
461 | R>C | No |
ClinGen gnomAD |
|
|
rs763155766 CA7995316 |
461 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA395498840 rs763155766 |
461 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1196393603 CA395498829 |
461 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM969660 rs776161545 CA280439797 |
462 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1244966803 CA395498859 |
463 | P>S | No |
ClinGen gnomAD |
|
|
rs370657227 CA7995319 |
466 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370657227 CA7995320 |
466 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148659076 CA7995321 |
467 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753256203 CA7995324 |
468 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA395499000 rs1412058862 |
469 | Q>L | No |
ClinGen Ensembl |
|
|
CA7995327 rs199575713 |
474 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7995328 rs758050017 |
474 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395499166 rs1274733427 |
477 | R>* | No |
ClinGen gnomAD |
|
|
CA7995330 rs748570854 COSM71730 |
477 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs773805822 CA7995333 |
478 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA7995332 rs773805822 |
478 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA7995331 rs770280110 |
478 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201622634 CA7995334 |
479 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995335 rs774322564 |
479 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1678978 rs778019284 CA7995351 |
480 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1470754041 CA395499309 |
481 | V>I | No |
ClinGen gnomAD |
|
|
rs771357789 CA7995353 |
483 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395499405 rs1313973487 |
486 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs200801648 CA7995354 |
488 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337161910 CA395499460 |
490 | G>D | No |
ClinGen gnomAD |
|
|
rs1310193525 CA395499457 |
490 | G>S | No |
ClinGen gnomAD |
|
|
CA7995357 rs775904535 |
491 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1165016987 CA395499484 |
492 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1278755215 CA395499501 |
493 | E>K | No |
ClinGen gnomAD |
|
|
rs761751622 CA7995361 |
499 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371618386 CA7995362 |
500 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 501 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749930422 CA7995363 |
502 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214676521 CA395499669 |
504 | R>P | No |
ClinGen TOPMed |
|
|
CA395499668 rs1214676521 |
504 | R>Q | No |
ClinGen TOPMed |
|
|
rs762489626 CA7995364 |
504 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs765990868 CA7995365 |
506 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7995366 rs146411255 |
507 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754616199 CA7995367 |
507 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1228457177 CA395499738 |
509 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs778130285 CA7995368 |
510 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7995369 rs200776716 |
511 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7995370 rs757781726 |
511 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM969663 CA7995371 rs140949055 |
512 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7995372 rs745924270 |
512 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA395499770 rs745924270 |
512 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995374 rs772229534 |
513 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325767915 CA395499799 |
515 | C>F | No |
ClinGen TOPMed |
|
|
CA395499852 rs1163429572 |
520 | P>T | No |
ClinGen TOPMed |
|
|
rs1304155972 CA395499864 |
521 | D>N | No |
ClinGen gnomAD |
|
|
rs747189656 CA7995376 |
521 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA7995378 rs371497912 |
526 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1228253828 CA395499971 |
527 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs747960282 CA7995379 |
528 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs747960282 CA395499993 |
528 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs769739441 CA7995380 COSM969664 |
530 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7995381 rs773178461 |
531 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1462008188 CA395500052 |
532 | A>V | No |
ClinGen gnomAD |
|
|
CA395500055 rs1397667778 |
533 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA395500077 rs1442902039 |
534 | H>Y | No |
ClinGen gnomAD |
|
|
rs1255620574 CA395500100 |
535 | A>T | No |
ClinGen gnomAD |
|
|
CA7995383 rs765833073 |
537 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA280441480 rs1035354102 |
545 | W>* | No |
ClinGen Ensembl |
|
|
rs958350171 CA280441483 |
546 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1209686061 CA395501204 |
546 | H>Q | No |
ClinGen TOPMed |
|
|
rs958350171 CA395501203 |
546 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773018736 CA7995400 |
547 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 550 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395501282 rs1421909588 |
551 | D>E | No |
ClinGen gnomAD |
|
|
CA7995403 rs773849272 |
551 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7995405 rs184844945 |
552 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7995404 rs192310601 |
552 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 553 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596928809 CA395501336 |
555 | P>S | No |
ClinGen Ensembl |
|
|
CA395501347 rs1419029159 |
556 | Q>* | No |
ClinGen gnomAD |
|
|
CA7995406 rs774961106 |
557 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138909196 CA7995408 |
558 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA280441519 rs1023577568 |
559 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs865899474 CA280441525 |
559 | A>V | No |
ClinGen Ensembl |
|
|
rs767057696 CA7995411 |
560 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs751625910 CA7995412 |
560 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7995415 rs748275129 |
565 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 566 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs969182822 CA280441602 |
567 | F>V | No |
ClinGen TOPMed |
|
|
CA7995416 rs756331447 |
569 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1210205703 CA395501600 |
569 | G>S | No |
ClinGen gnomAD |
|
|
CA7995418 rs200748000 |
571 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 574 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 577 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775070966 CA7995423 |
578 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7995422 rs771443412 |
578 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395501739 rs1378775502 |
579 | V>M | No |
ClinGen TOPMed |
|
|
rs1444675404 CA395501755 |
580 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1444675404 CA395501752 |
580 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs760347959 CA7995426 |
580 | R>W | No |
ClinGen ExAC TOPMed |
|
|
CA395501779 rs1182473346 |
582 | A>S | No |
ClinGen TOPMed |
|
|
rs755216817 CA7995428 |
583 | V>D | No |
ClinGen ExAC |
|
|
CA7995430 rs781627154 |
583 | V>DGC* | No |
ClinGen ExAC |
|
|
COSM1377273 rs763449040 CA7995431 |
583 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
rs1201737336 CA395501838 |
585 | S>F | No |
ClinGen TOPMed |
|
|
CA7995435 rs751962007 |
587 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs766969676 CA7995434 |
587 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs760116498 CA7995436 |
588 | F>S | No |
ClinGen ExAC gnomAD |
|
|
COSM969665 rs1409600608 CA395501882 |
589 | D>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 590 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395501957 rs1309897498 |
593 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs141900069 CA7995439 |
594 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778012780 CA7995440 |
595 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA7995442 rs757001465 |
596 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs146078848 CA7995444 |
597 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3402255 CA7995445 rs377434387 |
597 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 597 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395502027 rs1423176785 |
598 | I>V | No |
ClinGen gnomAD |
|
|
CA7995446 COSM969666 rs779418542 |
600 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA395502060 COSM3402256 rs148167046 |
600 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA280441783 COSM969667 rs148167046 |
600 | R>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
rs1399827149 CA395502074 |
601 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 601 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399827149 CA395502075 |
601 | T>S | No |
ClinGen gnomAD |
|
|
CA395502087 rs1567396017 |
602 | A>G | No |
ClinGen Ensembl |
|
|
rs1464448741 CA395502092 |
603 | V>I | No |
ClinGen gnomAD |
|
|
rs1464448741 CA395502094 |
603 | V>L | No |
ClinGen gnomAD |
|
|
rs746587184 CA7995447 |
604 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA280441797 rs893400874 |
605 | G>R | No |
ClinGen TOPMed |
|
|
rs893400874 CA395502123 |
605 | G>S | No |
ClinGen TOPMed |
|
|
rs371042454 CA7995449 |
609 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA395502204 rs1258384215 |
611 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA395502234 rs1274847968 |
613 | G>A | No |
ClinGen gnomAD |
|
|
CA7995450 rs200928869 |
613 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1451917397 CA395502250 |
614 | P>R | No |
ClinGen gnomAD |
|
|
CA7995452 COSM1215985 rs774778810 |
615 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1472462709 CA395502273 |
616 | G>S | No |
ClinGen TOPMed |
|
|
rs1189115787 CA395502296 |
617 | M>I | No |
ClinGen TOPMed |
|
|
CA7995453 rs759899108 |
617 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995454 rs554441361 |
619 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1198209157 CA395502336 |
620 | P>R | No |
ClinGen TOPMed |
|
|
rs201685626 CA7995456 |
620 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7995458 rs754024292 |
623 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995457 rs147256190 |
623 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757475299 CA7995459 |
625 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA395502430 rs1322190301 |
626 | A>V | No |
ClinGen gnomAD |
|
|
rs905096558 CA280441851 |
627 | V>D | No |
ClinGen TOPMed |
|
|
CA395502437 rs1432354828 |
627 | V>F | No |
ClinGen gnomAD |
|
|
CA395502435 rs1432354828 |
627 | V>L | No |
ClinGen gnomAD |
|
|
rs750291685 CA7995461 |
628 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1012547196 CA280441878 |
630 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs758265842 CA7995462 |
630 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA395502585 rs1209014132 |
632 | G>E | No |
ClinGen gnomAD |
|
|
rs746493614 CA7995464 |
633 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA395502609 rs1448677674 |
634 | V>M | No |
ClinGen gnomAD |
|
|
VAR_050179 RCV000959287 rs35916172 CA7995465 |
635 | V>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1463070204 CA395502641 |
636 | S>C | No |
ClinGen gnomAD |
|
|
rs1333644986 CA395502648 |
636 | S>R | No |
ClinGen TOPMed |
|
|
rs1394330052 CA395502660 |
637 | S>G | No |
ClinGen TOPMed |
|
|
rs780880129 CA7995466 |
637 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs769496996 CA7995469 |
640 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 641 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395502779 rs1472714376 |
641 | Q>P | No |
ClinGen gnomAD |
|
|
rs143138964 CA395502819 |
643 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143138964 CA7995470 |
643 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1465849877 CA395502887 |
646 | V>M | No |
ClinGen TOPMed |
|
|
CA7995471 rs746308110 |
649 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs3764944 CA7995472 |
651 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs3764944 VAR_050180 CA7995473 |
651 | R>Q | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1420867632 CA395502970 COSM557449 |
651 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs767493613 CA395502989 |
652 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030443313 CA395502998 |
653 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA280441943 rs1030443313 |
653 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA395503036 rs1314397196 |
656 | R>C | No |
ClinGen gnomAD |
|
|
CA395503034 rs1314397196 |
656 | R>G | No |
ClinGen gnomAD |
|
|
rs954970546 CA280441944 |
656 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA280441949 rs986124471 |
658 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA395503095 rs1285198347 |
661 | A>V | No |
ClinGen gnomAD |
|
|
CA7995476 rs776709735 |
662 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA7995477 rs776709735 |
662 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA7995479 rs765565745 |
662 | I>M | No |
ClinGen ExAC gnomAD |
|
|
COSM969668 rs758260116 CA7995480 |
663 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA395503134 rs1434955364 |
664 | I>T | No |
ClinGen TOPMed |
|
|
rs1442077415 CA395503148 |
665 | T>N | No |
ClinGen gnomAD |
|
|
CA395503205 rs1440675590 |
669 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs754965494 CA7995483 |
669 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378994718 CA395503215 |
670 | E>K | No |
ClinGen gnomAD |
|
|
CA395503239 rs1173831386 |
672 | A>T | No |
ClinGen gnomAD |
|
|
CA395503254 rs1395126693 |
673 | A>T | No |
ClinGen gnomAD |
|
|
CA395504082 rs1596930606 |
674 | K>N | No |
ClinGen Ensembl |
|
|
CA395504095 rs1253356449 |
675 | H>R | No |
ClinGen gnomAD |
|
|
rs371680186 CA280442903 |
678 | Q>R | No |
ClinGen ESP gnomAD |
|
|
CA7995505 rs537746836 |
682 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432161187 CA395504220 |
683 | E>K | No |
ClinGen gnomAD |
|
|
CA7995506 rs753464863 |
684 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7995507 rs139289305 |
685 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139289305 CA395504243 |
685 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7995508 rs780387195 |
685 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995510 rs769124320 |
686 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995511 rs781701976 |
687 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373579321 CA395504291 |
688 | L>R | No |
ClinGen TOPMed |
|
|
rs201522490 CA395504315 |
690 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201522490 CA7995514 |
690 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769874399 CA7995513 |
690 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs556554950 CA7995517 |
691 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1218278243 CA395504326 |
691 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 692 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439387109 CA395504355 |
693 | I>V | No |
ClinGen TOPMed |
|
|
CA395504379 rs1323923473 |
695 | D>N | No |
ClinGen gnomAD |
|
|
rs1245986659 CA395504403 |
696 | Q>R | No |
ClinGen gnomAD |
|
|
CA7995518 rs759442185 |
697 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA395504420 rs1487800068 |
698 | E>K | No |
ClinGen gnomAD |
|
|
CA280442980 rs867810235 |
699 | A>V | No |
ClinGen Ensembl |
|
|
rs1264745136 CA395504448 |
700 | E>K | No |
ClinGen gnomAD |
|
|
CA395504492 rs1488318202 |
702 | A>V | No |
ClinGen gnomAD |
|
|
CA280443002 rs1014218431 |
703 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752641335 CA7995520 |
703 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 703 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 706 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1131328 CA280443012 |
708 | E>K | No |
ClinGen Ensembl |
|
|
CA7995542 rs760571956 |
714 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210449084 CA395504789 |
715 | A>V | No |
ClinGen gnomAD |
|
|
rs750034799 CA7995544 |
716 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs758048043 CA7995545 |
717 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995546 rs767861824 |
719 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1439012369 CA395504856 |
719 | T>I | No |
ClinGen gnomAD |
|
|
rs1415076166 CA395504875 |
720 | G>A | No |
ClinGen gnomAD |
|
|
rs1427383859 CA395504864 |
720 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA280443298 rs1005827010 |
722 | A>S | No |
ClinGen gnomAD |
|
|
rs1005827010 CA395504894 |
722 | A>T | No |
ClinGen gnomAD |
|
|
rs765919604 CA7995549 |
723 | K>T | No |
ClinGen ExAC |
|
|
rs772703096 CA280443313 |
724 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7995551 rs757373687 |
726 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995553 rs376043451 |
727 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772481190 CA7995554 |
729 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995555 rs562114790 |
729 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs754695233 CA7995556 |
730 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395505007 rs1200070762 |
733 | A>T | No |
ClinGen gnomAD |
|
|
CA280443343 rs925829482 |
733 | A>V | No |
ClinGen TOPMed |
|
|
rs776385912 CA395505015 |
734 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347682635 CA395505018 |
734 | R>Q | No |
ClinGen TOPMed |
|
|
rs776385912 CA7995558 |
734 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267604503 CA280443367 |
736 | E>* | No |
ClinGen Ensembl |
|
|
rs1202415971 CA395505055 |
737 | G>R | No |
ClinGen gnomAD |
|
|
CA280443374 rs985197342 |
738 | E>D | No |
ClinGen TOPMed |
|
|
CA395505063 rs1248377464 |
738 | E>K | No |
ClinGen gnomAD |
|
|
rs1478428126 CA395505090 |
739 | G>E | No |
ClinGen gnomAD |
|
|
CA395505111 rs1478942622 |
741 | V>L | No |
ClinGen gnomAD |
|
|
CA395505107 rs1478942622 |
741 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1326193196 CA395505149 |
744 | A>D | No |
ClinGen gnomAD |
|
|
rs201911139 CA280443395 |
744 | A>T | No |
ClinGen gnomAD |
|
|
rs1432982395 CA395505160 |
745 | K>R | No |
ClinGen gnomAD |
|
|
CA7995561 rs764658273 |
747 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772719274 CA7995562 |
749 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1462982681 CA395505204 |
749 | Q>R | No |
ClinGen TOPMed |
|
|
rs866580330 CA280443422 |
752 | A>D | No |
ClinGen Ensembl |
|
|
rs1278417429 CA395505271 |
754 | E>K | No |
ClinGen gnomAD |
|
|
rs1212570077 CA395505292 |
755 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs766031664 CA395505401 CA7995584 |
756 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA395505555 rs1340885096 |
765 | V>I | No |
ClinGen gnomAD |
|
|
rs764310278 CA7995587 |
766 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995588 rs3815823 COSM471614 |
766 | R>Q | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762406844 CA7995590 |
770 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421251163 CA395505657 |
772 | Y>F | No |
ClinGen gnomAD |
|
|
CA395505677 rs1202454214 |
773 | A>V | No |
ClinGen gnomAD |
|
|
CA7995592 rs146438938 |
774 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7995594 rs780216852 |
774 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs146438938 CA395505678 |
774 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA280444108 rs547354384 |
775 | A>S | No |
ClinGen Ensembl |
|
|
rs764606896 CA280444147 |
778 | E>Q | No |
ClinGen Ensembl |
|
|
rs1240338867 CA395505760 |
780 | E>A | No |
ClinGen gnomAD |
|
|
CA280444167 rs912826663 |
782 | S>N | No |
ClinGen TOPMed |
|
|
CA7995596 rs755239611 |
783 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7995597 rs200956879 |
784 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200956879 CA280444177 |
784 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200956879 CA7995598 COSM471615 |
784 | A>T | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA395505831 rs1450955605 |
785 | Q>R | No |
ClinGen gnomAD |
|
|
rs537388848 CA280444182 |
786 | Q>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA395505876 rs1402451600 |
788 | A>V | No |
ClinGen gnomAD |
|
|
rs11550377 CA280444190 |
790 | V>A | No |
ClinGen Ensembl |
|
|
CA395505942 rs1596932633 |
792 | V>G | No |
ClinGen Ensembl |
|
|
CA7995599 rs555637285 |
794 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA7995600 rs573945680 |
796 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1160456222 CA395506063 |
798 | M>I | No |
ClinGen gnomAD |
|
|
CA395506105 rs1398264262 |
800 | E>D | No |
ClinGen TOPMed |
|
|
rs1411852115 CA395506124 |
802 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs749268244 CA7995601 |
804 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA395506178 rs1334102391 |
805 | S>R | No |
ClinGen gnomAD |
|
|
rs1303816423 CA395506222 |
808 | R>K | No |
ClinGen TOPMed |
|
|
rs1359853608 CA395506238 |
809 | D>E | No |
ClinGen gnomAD |
|
|
rs1275449910 CA395506269 |
813 | A>D | No |
ClinGen gnomAD |
|
|
rs759099202 CA7995604 |
815 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs565772325 CA280444232 |
817 | M>T | No |
ClinGen gnomAD |
|
|
rs1218395168 CA395506394 |
821 | L>V | No |
ClinGen gnomAD |
|
|
rs755146643 CA7995613 |
822 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA395506421 rs1284047070 |
824 | S>A | No |
ClinGen TOPMed |
|
|
CA7995614 rs781429024 |
824 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395506431 rs1480786418 |
825 | L>P | No |
ClinGen gnomAD |
|
|
CA395506469 rs1251601584 |
830 | T>A | No |
ClinGen gnomAD |
|
|
CA7995616 rs755853528 |
832 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 834 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7995617 rs377299570 |
834 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1041880578 CA395507079 |
835 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1041880578 CA280444593 |
835 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7995618 rs749112131 |
837 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1596933274 CA395507098 |
837 | T>P | No |
ClinGen Ensembl |
|
|
rs1596933302 CA395507150 |
840 | N>T | No |
ClinGen Ensembl |
|
|
CA7995620 rs778283053 |
841 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7995621 rs745425131 |
841 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs771832616 CA7995622 |
842 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1403176372 CA395507207 |
844 | T>A | No |
ClinGen gnomAD |
|
|
CA395507251 rs1596933360 |
846 | F>L | No |
ClinGen Ensembl |
|
|
CA395507259 rs1341375635 |
847 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA395507301 rs1381799863 |
851 | M>R | No |
ClinGen gnomAD |
|
|
rs1358127673 CA395507323 |
853 | P>S | No |
ClinGen TOPMed |
|
|
CA7995628 rs766972215 |
854 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7995629 rs774260885 |
857 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 857 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280444668 rs1050849 |
860 | R>K | No |
ClinGen Ensembl |
|
|
CA7995630 rs143008418 |
864 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7995631 rs151174471 |
865 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1264640811 CA395507505 |
867 | S>I | No |
ClinGen gnomAD |
|
|
CA7995632 rs752874712 |
867 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7995633 rs569962502 |
868 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1185521295 CA395507516 |
868 | P>S | No |
ClinGen gnomAD |
|
|
rs1174132873 CA395507537 |
869 | G>R | No |
ClinGen gnomAD |
|
|
CA280444702 rs1026113435 |
871 | G>E | No |
ClinGen Ensembl |
|
|
rs993351474 CA280444685 |
871 | G>R | No |
ClinGen Ensembl |
|
|
rs111546502 CA280444710 |
873 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs368030868 CA280444736 |
874 | P>H | No |
ClinGen gnomAD |
|
|
CA280444735 rs567341969 |
874 | P>S | No |
ClinGen Ensembl |
|
|
CA395507615 rs763864769 |
875 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA395507614 rs763864769 |
875 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs763864769 CA7995634 |
875 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs753734970 CA7995635 |
876 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7995636 rs757111510 |
877 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1261179969 CA395507640 |
878 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs778960068 CA7995637 |
879 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7995639 rs573639782 |
881 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280444813 rs199989257 |
884 | G>R | No |
ClinGen 1000Genomes |
|
|
CA7995641 rs142001681 RCV000969087 |
885 | D>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA280444821 rs142001681 |
885 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7995642 rs768478497 |
886 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7995645 rs749699271 |
888 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7995644 rs749699271 |
888 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1484145631 CA395507840 |
889 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 890 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7995648 rs767516929 |
891 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369060098 CA7995650 |
892 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs34437030 CA7995651 |
893 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753554076 COSM1734170 CA7995652 |
893 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs753554076 CA395507903 |
893 | R>L | No |
ClinGen ExAC gnomAD |
No associated diseases with Q14764
16 regional properties for Q14764
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Major vault protein, N-terminal | 56 - 116 | IPR002499-1 |
| repeat | Major vault protein, N-terminal | 117 - 169 | IPR002499-2 |
| repeat | Major vault protein, N-terminal | 170 - 222 | IPR002499-3 |
| repeat | Major vault protein, N-terminal | 223 - 277 | IPR002499-4 |
| repeat | Major vault protein, N-terminal | 279 - 327 | IPR002499-5 |
| repeat | Major vault protein, N-terminal | 328 - 383 | IPR002499-6 |
| repeat | Major vault protein, N-terminal | 384 - 437 | IPR002499-7 |
| domain | Major vault protein, shoulder domain | 509 - 670 | IPR021870 |
| domain | Major vault protein repeat domain 3 | 457 - 518 | IPR040989 |
| domain | Major vault protein repeat domain 2 | 50 - 109 | IPR041134-1 |
| domain | Major vault protein repeat domain 2 | 273 - 320 | IPR041134-2 |
| domain | Major vault protein repeat domain 4 | 379 - 438 | IPR041136 |
| domain | Major vault protein repeat domain | 113 - 154 | IPR041139-1 |
| domain | Major vault protein repeat domain | 167 - 206 | IPR041139-2 |
| domain | Major vault protein repeat domain | 220 - 262 | IPR041139-3 |
| domain | Major vault protein repeat domain | 324 - 367 | IPR041139-4 |
Functions
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| ficolin-1-rich granule lumen | Any membrane-enclosed lumen that is part of a ficolin-1-rich granule. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear pore | A protein complex providing a discrete opening in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
| secretory granule lumen | The volume enclosed by the membrane of a secretory granule. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein phosphatase binding | Binding to a protein phosphatase. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| ERBB signaling pathway | The series of molecular signals initiated by binding of a ligand to a member of the ERBB family of receptor tyrosine kinases on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| mRNA transport | The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| negative regulation of epidermal growth factor receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of epidermal growth factor receptor signaling pathway activity. |
| negative regulation of protein autophosphorylation | Any process that stops, prevents or decreases the rate of the phosphorylation by a protein of one or more of its own residues. |
| negative regulation of protein tyrosine kinase activity | Any process that decreases the rate, frequency, or extent of protein tyrosine kinase activity. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6P3L0 | mvp | Major vault protein | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATEEFIIRI | PPYHYIHVLD | QNSNVSRVEV | GPKTYIRQDN | ERVLFAPMRM | VTVPPRHYCT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VANPVSRDAQ | GLVLFDVTGQ | VRLRHADLEI | RLAQDPFPLY | PGEVLEKDIT | PLQVVLPNTA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LHLKALLDFE | DKDGDKVVAG | DEWLFEGPGT | YIPRKEVEVV | EIIQATIIRQ | NQALRLRARK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ECWDRDGKER | VTGEEWLVTT | VGAYLPAVFE | EVLDLVDAVI | LTEKTALHLR | ARRNFRDFRG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VSRRTGEEWL | VTVQDTEAHV | PDVHEEVLGV | VPITTLGPHN | YCVILDPVGP | DGKNQLGQKR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VVKGEKSFFL | QPGEQLEQGI | QDVYVLSEQQ | GLLLRALQPL | EEGEDEEKVS | HQAGDHWLIR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GPLEYVPSAK | VEVVEERQAI | PLDENEGIYV | QDVKTGKVRA | VIGSTYMLTQ | DEVLWEKELP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PGVEELLNKG | QDPLADRGEK | DTAKSLQPLA | PRNKTRVVSY | RVPHNAAVQV | YDYREKRARV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VFGPELVSLG | PEEQFTVLSL | SAGRPKRPHA | RRALCLLLGP | DFFTDVITIE | TADHARLQLQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LAYNWHFEVN | DRKDPQETAK | LFSVPDFVGD | ACKAIASRVR | GAVASVTFDD | FHKNSARIIR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TAVFGFETSE | AKGPDGMALP | RPRDQAVFPQ | NGLVVSSVDV | QSVEPVDQRT | RDALQRSVQL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AIEITTNSQE | AAAKHEAQRL | EQEARGRLER | QKILDQSEAE | KARKELLELE | ALSMAVESTG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TAKAEAESRA | EAARIEGEGS | VLQAKLKAQA | LAIETEAELQ | RVQKVRELEL | VYARAQLELE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VSKAQQLAEV | EVKKFKQMTE | AIGPSTIRDL | AVAGPEMQVK | LLQSLGLKST | LITDGSTPIN |
| 850 | 860 | 870 | 880 | 890 | |
| LFNTAFGLLG | MGPEGQPLGR | RVASGPSPGE | GISPQSAQAP | QAPGDNHVVP | VLR |