Q5VWT5
PR
Gene name |
FYB2 |
Protein name |
FYN-binding protein 2 |
Names |
Activation-dependent, raft-recruited ADAP-like phosphoprotein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:199920 |
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 Q5VWT5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5VWT5-F1 | Predicted | AlphaFoldDB |
691 variants for Q5VWT5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs147394238 CA874856 |
2 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA874854 rs750869389 |
3 | G>E | No |
ClinGen ExAC |
|
|
CA874855 rs566036317 |
3 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA340500100 rs1464948767 |
5 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs776918136 CA340500102 CA874819 |
5 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA340500094 rs1172808367 |
6 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs968089972 CA22827636 |
11 | E>V | No |
ClinGen Ensembl |
|
|
rs772174303 CA874814 |
12 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA874813 rs747637853 |
13 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA874811 rs768309203 |
13 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874812 rs768309203 |
13 | R>Q | Variant assessed as Somatic; 4.686e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA874810 rs557525062 |
14 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 19 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22827621 rs576076668 |
19 | L>P | No |
ClinGen Ensembl |
|
|
rs1208385514 CA340499928 |
19 | L>V | No |
ClinGen gnomAD |
|
|
rs779766040 CA874809 |
22 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA340499909 rs1312126514 |
22 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340499902 rs1372508416 |
23 | P>L | No |
ClinGen gnomAD |
|
|
CA874808 rs771200064 |
23 | P>S | No |
ClinGen ExAC |
|
|
CA340499901 rs1267219460 |
24 | L>I | No |
ClinGen TOPMed |
|
| TCGA novel | 26 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340499877 rs1557655474 |
27 | P>S | No |
ClinGen Ensembl |
|
|
CA340499865 rs1215525078 |
28 | I>V | No |
ClinGen TOPMed |
|
|
rs778233687 CA874806 |
29 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs758856837 CA874805 |
31 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371573259 CA22827532 |
31 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1265672939 CA340499814 |
32 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340499797 rs1557655403 |
33 | G>D | No |
ClinGen Ensembl |
|
|
CA340499791 rs1473672775 |
34 | V>I | No |
ClinGen TOPMed |
|
|
rs61736121 CA874804 |
35 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA874803 rs61736121 |
35 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755064459 CA874802 |
37 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA340499736 rs867551811 |
38 | G>A | No |
ClinGen gnomAD |
|
|
CA22827509 rs867551811 |
38 | G>D | No |
ClinGen gnomAD |
|
|
CA340499733 rs1557655369 |
39 | D>N | No |
ClinGen Ensembl |
|
|
CA340499689 rs1411754909 |
42 | G>D | No |
ClinGen TOPMed |
|
|
rs1176678492 CA340499693 |
42 | G>S | No |
ClinGen gnomAD |
|
|
CA874800 rs565728023 |
44 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1389192016 CA340499664 |
44 | Q>L | No |
ClinGen TOPMed |
|
|
rs1385265091 CA340499634 |
46 | T>S | No |
ClinGen Ensembl |
|
|
rs984622548 CA22827486 |
47 | Q>* | No |
ClinGen TOPMed |
|
|
rs1410407653 CA340499623 |
47 | Q>R | No |
ClinGen gnomAD |
|
|
rs1240185647 CA340499562 |
50 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA340499547 CA874796 rs761799664 |
51 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874797 rs374738405 |
51 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238603797 CA340499537 |
52 | G>R | No |
ClinGen gnomAD |
|
|
CA340499503 rs1570174021 |
53 | K>N | No |
ClinGen Ensembl |
|
|
CA340499476 rs1212816504 |
54 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs141407758 CA874793 |
56 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340499427 rs1308637301 |
57 | S>F | No |
ClinGen gnomAD |
|
|
rs1354013751 CA340499438 |
57 | S>P | No |
ClinGen gnomAD |
|
|
rs148084869 CA22827446 |
58 | N>H | No |
ClinGen ESP |
|
|
CA874790 rs146849613 |
58 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368042852 CA874789 |
59 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA22827440 rs368042852 |
59 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772431764 CA340499361 |
60 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs748597587 CA874787 |
61 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA874786 rs113615783 |
62 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs755007742 CA874785 |
62 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340499328 rs755007742 |
62 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563435067 CA874783 |
64 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs767351773 CA874780 |
65 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA874781 rs750703816 |
65 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22827403 rs750703816 |
65 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874782 rs756308362 |
65 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA22827395 rs761710137 |
66 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA874779 rs761710137 |
66 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1457812135 CA340499229 |
68 | S>N | No |
ClinGen TOPMed |
|
|
rs1215288844 CA340499240 |
68 | S>R | No |
ClinGen gnomAD |
|
|
rs1488320855 CA340499210 |
69 | S>T | No |
ClinGen gnomAD |
|
|
CA340499186 rs1371908164 |
71 | S>F | No |
ClinGen TOPMed |
|
|
CA874778 rs751524415 |
75 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA340499097 rs145422125 |
76 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA874777 rs145422125 |
76 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750337787 CA22827365 |
76 | P>S | No |
ClinGen Ensembl |
|
|
CA874776 rs762351332 |
77 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762351332 CA22827344 |
77 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874775 rs150919389 |
79 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA874774 rs769221608 |
80 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs922009453 CA22827324 |
81 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
CA874773 rs759164034 |
83 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs759164034 CA340498986 |
83 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA22827323 rs374113789 |
83 | Q>R | No |
ClinGen ESP TOPMed |
|
|
CA874771 rs772413420 |
85 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA340498904 rs1339826336 |
86 | E>K | No |
ClinGen TOPMed |
|
|
CA340498873 rs1228127460 |
87 | I>T | No |
ClinGen TOPMed |
|
|
CA22827315 rs868129981 |
88 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA340498814 rs549831043 |
90 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA874770 rs549831043 |
90 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340498793 rs1299696564 |
91 | S>C | No |
ClinGen TOPMed |
|
|
rs903431051 CA22827306 |
93 | S>P | No |
ClinGen TOPMed |
|
|
CA22827303 rs1040210009 |
94 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs774808874 CA874769 |
95 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA340498674 rs1274211461 |
98 | G>E | No |
ClinGen TOPMed |
|
|
CA340498653 rs1486084954 |
99 | K>E | No |
ClinGen TOPMed |
|
|
rs1202587197 CA340498636 |
99 | K>N | No |
ClinGen TOPMed |
|
|
rs1254454886 CA340498622 |
100 | S>C | No |
ClinGen TOPMed |
|
|
rs780139194 CA874766 |
101 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs944520207 CA22827286 |
101 | T>I | No |
ClinGen Ensembl |
|
|
COSM146526 CA874765 rs201392067 |
102 | V>I | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs201392067 CA340498603 |
102 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781618197 COSM329193 CA874763 |
105 | A>E | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs750332251 CA22827259 |
105 | A>T | No |
ClinGen Ensembl |
|
|
CA340498535 rs1487956378 |
106 | T>I | No |
ClinGen gnomAD |
|
|
rs923893990 CA22827252 |
107 | S>N | No |
ClinGen gnomAD |
|
|
CA340498500 rs751452629 CA874762 |
108 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751452629 CA874761 |
108 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199762073 CA340498489 |
109 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA874760 rs199762073 |
109 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA874759 rs758317628 |
111 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs527886732 CA874758 |
113 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 113 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145142108 CA874756 |
114 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA22827245 rs967742705 |
116 | E>D | No |
ClinGen Ensembl |
|
|
rs1386247239 CA340498356 |
116 | E>G | No |
ClinGen gnomAD |
|
|
CA340498353 rs1386247239 |
116 | E>V | No |
ClinGen gnomAD |
|
|
rs776261706 CA874755 |
117 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA874754 rs766060385 |
118 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 119 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172090933 CA340498288 |
120 | S>T | No |
ClinGen gnomAD |
|
|
CA340498270 rs1570172629 |
121 | N>S | No |
ClinGen Ensembl |
|
|
CA874750 rs370398463 |
122 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1196169776 CA340498250 |
123 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA874749 rs749734083 |
124 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_035041 rs17114336 CA874748 |
125 | I>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA874747 rs367773954 |
126 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1456325269 CA340498146 |
128 | E>V | No |
ClinGen gnomAD |
|
|
CA340498111 rs1198975145 |
130 | V>I | No |
ClinGen gnomAD |
|
|
CA22827201 rs959138118 |
132 | V>G | No |
ClinGen Ensembl |
|
|
CA874745 rs781546388 |
133 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA340498082 rs781546388 |
133 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA874744 rs757510301 |
133 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 137 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553165381 COSM109317 CA874742 |
141 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs138541313 COSM109317 CA22827186 |
141 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA340498017 rs1208927296 |
142 | N>D | No |
ClinGen gnomAD |
|
|
CA340498010 rs1254476953 |
142 | N>K | No |
ClinGen TOPMed |
|
|
CA874741 rs747268142 |
143 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA340498006 rs1209685393 |
143 | W>* | No |
ClinGen TOPMed |
|
|
CA340498008 rs1483159503 |
143 | W>R | No |
ClinGen TOPMed |
|
|
rs1034748353 CA22827179 |
144 | E>K | No |
ClinGen Ensembl |
|
|
CA340497989 rs752667969 |
145 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758143030 CA874740 |
145 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs758143030 CA874739 |
145 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1376362452 CA340497984 |
146 | V>A | No |
ClinGen gnomAD |
|
|
rs1463902740 CA340497986 |
146 | V>F | No |
ClinGen TOPMed |
|
|
CA874737 rs765154606 |
147 | S>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 147 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22827166 rs971942193 |
151 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA340497948 rs1395209466 |
152 | E>K | No |
ClinGen TOPMed |
|
|
rs754453886 CA874736 |
153 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1015181570 CA22827162 |
153 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA22827157 rs111426835 |
154 | S>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 154 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373017352 CA22827156 |
157 | L>F | No |
ClinGen gnomAD |
|
|
CA340497915 rs373017352 |
157 | L>V | No |
ClinGen gnomAD |
|
|
rs765896856 CA874734 |
159 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA874733 rs760277845 |
160 | A>V | No |
ClinGen ExAC |
|
| TCGA novel | 161 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA874732 rs376046942 |
161 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs928680149 CA340497885 |
162 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA22827138 rs928680149 |
162 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340497873 rs1254048076 |
164 | S>C | No |
ClinGen gnomAD |
|
|
CA340497861 rs1434220177 |
165 | K>N | No |
ClinGen TOPMed |
|
|
CA340497859 rs1199803281 |
166 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA340497857 COSM535521 rs1199803281 |
166 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA340497858 rs1199803281 |
166 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1345876702 CA340497854 |
166 | A>V | No |
ClinGen gnomAD |
|
|
CA874729 rs371302148 |
167 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA874730 rs763281258 |
167 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353301221 CA340497840 |
169 | L>M | No |
ClinGen gnomAD |
|
|
CA874728 rs770257701 |
169 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 169 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA874727 rs760147629 |
170 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA340497822 rs776815077 |
172 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776815077 CA874726 |
172 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286386258 CA340497816 |
173 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA874725 rs771142081 |
173 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA340497807 rs1377733201 |
174 | G>D | No |
ClinGen gnomAD |
|
|
CA874724 rs747171992 COSM137310 |
174 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs1327496776 CA340497800 |
175 | M>T | No |
ClinGen TOPMed |
|
|
rs1417270799 CA340497792 |
176 | G>E | No |
ClinGen gnomAD |
|
|
CA340497795 rs1314179707 |
176 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA340497778 rs1489209249 |
178 | T>I | No |
ClinGen TOPMed |
|
|
CA340497776 rs771897550 |
179 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771897550 CA874721 |
179 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340497772 rs1385353910 |
180 | E>* | No |
ClinGen gnomAD |
|
|
rs747934068 CA874720 |
180 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 180 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA874719 rs778886825 |
181 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA340497762 rs1266240798 |
181 | E>G | No |
ClinGen TOPMed |
|
|
CA22827068 rs147103664 COSM109785 |
181 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA340497755 rs1472692664 |
182 | P>R | No |
ClinGen TOPMed |
|
|
rs1161135278 CA340497741 |
184 | K>I | No |
ClinGen TOPMed |
|
|
CA874718 rs754860979 |
185 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs868551385 CA22827059 |
187 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1214570309 CA340497715 |
188 | T>R | No |
ClinGen gnomAD |
|
|
COSM3356601 CA340497706 rs1287059539 |
189 | K>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM681663 rs1321251035 CA340497702 |
190 | G>E | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1165633587 CA340497694 |
191 | A>V | No |
ClinGen TOPMed |
|
|
rs1351484551 CA340497692 |
192 | Q>E | No |
ClinGen TOPMed |
|
|
CA874714 rs755632018 |
193 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs201585746 CA22827035 |
193 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA874713 rs201585746 |
193 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201585746 CA874712 |
193 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763341292 CA874711 |
195 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs752959376 CA874710 |
197 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1410308588 CA340497659 |
198 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA874708 rs760055856 |
198 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA874705 rs771123353 |
200 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228159534 CA340497627 |
202 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 204 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA874703 rs773452377 |
206 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA340497596 rs1475385685 |
207 | H>P | No |
ClinGen gnomAD |
|
|
rs1475385685 CA340497595 |
207 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340497581 rs1483077481 |
209 | V>A | No |
ClinGen TOPMed |
|
|
CA874701 rs201622030 |
209 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201622030 CA874700 |
209 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340497561 rs1249162100 |
212 | D>G | No |
ClinGen TOPMed |
|
|
rs1377467843 CA340497565 |
212 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs867019486 CA22826941 |
213 | P>F | No |
ClinGen Ensembl |
|
|
CA874699 rs768443157 |
213 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 213 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340497548 rs1242761689 |
214 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 214 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340497544 rs1472147050 |
215 | F>V | No |
ClinGen TOPMed |
|
|
rs1217966097 CA340497521 |
218 | S>C | No |
ClinGen gnomAD |
|
|
CA340497508 rs755611914 |
220 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874696 rs755611914 |
220 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780022406 CA874697 |
220 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749937228 CA874695 |
221 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340497488 rs1276943097 |
223 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 224 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756823431 CA874693 |
225 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs765641780 CA874691 |
226 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA874692 rs751231032 |
226 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1329019393 CA340497458 |
227 | N>T | No |
ClinGen gnomAD |
|
|
rs1432874459 CA340497451 |
228 | P>R | No |
ClinGen Ensembl |
|
|
CA874690 rs755453599 |
229 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA22826911 rs974462319 |
229 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340497439 rs1430473234 |
230 | P>L | No |
ClinGen TOPMed |
|
|
CA340497442 rs1396404286 |
230 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340497428 rs1310160421 |
232 | R>K | No |
ClinGen TOPMed |
|
|
CA340497420 rs1168517723 |
233 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA874688 rs767033112 |
234 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754394002 CA874689 |
234 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs867588966 CA22826892 |
235 | A>S | No |
ClinGen Ensembl |
|
|
CA340497401 rs1246388609 |
236 | S>I | No |
ClinGen gnomAD |
|
|
rs138148018 CA874685 |
236 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA874684 rs761872797 |
238 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874681 rs749146265 |
239 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874683 rs774567781 |
239 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs768423085 CA874682 |
239 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874680 rs373641680 |
240 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA874679 rs769768846 |
240 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs147827833 CA874678 |
241 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1273948145 CA340497373 COSM1687750 |
241 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA22826816 rs937635129 |
244 | E>D | No |
ClinGen TOPMed |
|
|
rs780506343 CA340497339 |
246 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340497340 rs780506343 |
246 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874676 rs780506343 |
246 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340497327 rs1329046054 |
248 | A>T | No |
ClinGen gnomAD |
|
|
rs937969694 CA22826810 |
250 | Q>R | No |
ClinGen TOPMed |
|
|
CA22826809 rs776203870 |
251 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs776203870 CA874675 |
251 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746631780 CA874674 |
251 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412909245 CA340497302 |
252 | P>A | No |
ClinGen gnomAD |
|
|
rs1412909245 CA340497301 |
252 | P>S | No |
ClinGen gnomAD |
|
|
CA22826799 rs927709162 |
253 | E>K | No |
ClinGen gnomAD |
|
|
CA340496577 rs1454514104 |
254 | K>E | No |
ClinGen gnomAD |
|
|
CA340496569 rs1301892947 |
254 | K>R | No |
ClinGen TOPMed |
|
|
CA340496548 rs1362406082 |
255 | Q>H | No |
ClinGen TOPMed |
|
|
rs1163153823 CA340496520 |
257 | D>E | No |
ClinGen gnomAD |
|
|
rs776402234 CA874641 |
257 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1570157959 CA340496510 |
258 | V>A | No |
ClinGen Ensembl |
|
|
CA874640 rs770951162 |
258 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs760712597 CA874639 |
259 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs771712011 CA874637 |
261 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs997746390 CA22825130 |
261 | H>N | No |
ClinGen TOPMed |
|
|
rs771712011 CA22825125 |
261 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874635 rs778684417 |
262 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA874636 rs536484805 |
262 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1262072495 CA340496447 |
263 | L>P | No |
ClinGen gnomAD |
|
|
CA874633 rs770048168 |
264 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1031163693 CA22825042 |
265 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs746281086 CA874632 |
266 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1025870895 CA22825034 |
268 | P>L | No |
ClinGen TOPMed |
|
|
CA874630 rs145616104 |
270 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA874631 rs145616104 |
270 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777774880 CA340496396 |
272 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA874628 rs777774880 |
272 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs752069277 CA874629 |
272 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868085118 CA22825012 |
273 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1461283395 CA340496391 |
273 | D>V | No |
ClinGen gnomAD |
|
|
CA340496382 rs1570157431 |
274 | S>F | No |
ClinGen Ensembl |
|
|
CA340496371 rs1570157335 |
276 | G>D | No |
ClinGen Ensembl |
|
|
CA874622 rs148137359 |
278 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA874623 rs138851640 |
278 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA874621 rs760621966 |
279 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA874620 rs112220774 |
279 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760621966 CA22824989 |
279 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA22824987 rs376764813 |
280 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA22824982 rs41313256 |
280 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs41313256 CA340496354 |
280 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs41313256 CA874619 |
280 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376764813 CA340496355 |
280 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340496356 rs376764813 |
280 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs761481008 CA874618 |
281 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1570157053 CA340496329 |
284 | R>S | No |
ClinGen Ensembl |
|
|
CA874615 rs768399593 |
287 | I>V | No |
ClinGen ExAC |
|
|
rs781577601 COSM166466 CA874613 |
288 | V>M | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1570156963 CA340496301 |
289 | N>T | No |
ClinGen Ensembl |
|
|
rs41305876 CA874612 |
290 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA874610 rs778323395 |
295 | R>K | No |
ClinGen ExAC |
|
|
CA874609 COSM397116 rs141104459 |
298 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA22824958 rs868724529 |
298 | A>V | No |
ClinGen Ensembl |
|
|
CA874608 rs748309073 |
300 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979756753 CA22824957 |
301 | P>S | No |
ClinGen TOPMed |
|
|
CA22824956 rs748212497 |
303 | T>A | No |
ClinGen Ensembl |
|
|
rs778881947 CA874607 |
304 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874606 rs755188774 COSM1503066 |
304 | Q>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA22824941 rs948480366 |
305 | G>E | No |
ClinGen Ensembl |
|
|
rs1168969322 CA340495819 CA340495817 |
305 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 306 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340495806 rs1168807945 |
306 | E>Q | No |
ClinGen gnomAD |
|
|
CA22823933 rs965813619 |
309 | V>M | No |
ClinGen Ensembl |
|
|
CA874566 rs149690731 |
311 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1012694087 CA22823899 |
312 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 314 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238257271 CA340495572 |
314 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs150549471 CA874564 |
318 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150549471 CA874563 |
318 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA22815324 rs367918551 |
319 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762215181 CA340492562 |
321 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874534 rs762215181 |
321 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367587098 CA874533 |
323 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA340492546 rs1375397662 |
324 | F>I | No |
ClinGen TOPMed |
|
|
rs1477519332 CA340492528 |
326 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 327 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA874532 rs764546862 |
327 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201364255 CA874530 |
331 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769978066 CA874528 |
333 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA874527 rs759733142 |
334 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM414835 rs868676186 CA22815294 |
335 | S>L | Variant assessed as Somatic; impact. skin urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs573252882 CA874524 |
336 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340492429 rs1222423447 |
341 | G>C | No |
ClinGen gnomAD |
|
|
rs747287377 CA874522 |
343 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs772816217 CA874521 |
344 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22815286 rs1046524799 |
344 | I>V | No |
ClinGen Ensembl |
|
|
rs748066295 CA874519 |
349 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1325661298 CA340492371 |
350 | K>T | No |
ClinGen TOPMed |
|
|
rs866261983 CA22815273 |
351 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA874516 rs553448862 |
355 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340491022 rs1414490252 |
356 | T>A | No |
ClinGen TOPMed |
|
|
CA340491020 rs1461382773 |
356 | T>N | No |
ClinGen gnomAD |
|
|
CA874488 rs755476205 |
357 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA340491008 rs1455784672 |
357 | Y>F | No |
ClinGen TOPMed |
|
|
CA874487 rs754382902 |
359 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA874486 rs766357831 |
361 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA340490316 rs1400909135 |
368 | G>W | No |
ClinGen TOPMed |
|
|
CA874465 rs750466794 |
369 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874464 rs767614966 |
370 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1218447981 CA340490265 |
371 | F>I | No |
ClinGen TOPMed |
|
|
COSM1687747 CA22811298 rs866866257 |
372 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs761955890 CA874463 |
373 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs763860596 CA874461 |
374 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs751789084 CA874462 |
374 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA340490159 rs1205259833 |
376 | P>R | No |
ClinGen gnomAD |
|
|
CA340505711 rs1258170038 |
377 | S>R | No |
ClinGen gnomAD |
|
|
rs199726486 CA340505703 |
378 | A>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs201370575 CA874442 |
378 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA22831337 rs199726486 |
378 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA340505667 rs1351782920 |
381 | E>A | No |
ClinGen gnomAD |
|
|
rs1409978812 CA340505670 |
381 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 382 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 382 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752498234 CA874440 |
383 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs764947483 CA874439 |
384 | K>I | No |
ClinGen ExAC gnomAD |
|
| rs762431846 | 385 | M>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA874436 rs759460902 |
385 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs762431846 | 385 | M>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA874435 rs776772052 |
386 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22831296 rs555531218 |
387 | E>* | No |
ClinGen gnomAD |
|
|
CA340505591 rs1477988746 |
388 | K>E | No |
ClinGen TOPMed |
|
| rs764585689 | 388 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22831293 rs372943146 |
389 | Q>K | No |
ClinGen Ensembl |
|
|
rs1473499331 CA340505562 |
390 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 390 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22831289 rs534169269 |
391 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA22831281 rs146308662 |
394 | K>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1203800771 CA340505498 |
395 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA340505495 rs1350408280 |
395 | P>L | No |
ClinGen gnomAD |
|
|
CA340505456 rs1261881738 |
398 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 399 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs72668350 CA874431 |
400 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA22831269 rs893766265 |
401 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA874430 rs150447062 |
402 | P>A | No |
ClinGen ESP ExAC |
|
| TCGA novel | 402 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340505408 rs1290934854 |
402 | P>Q | No |
ClinGen gnomAD |
|
|
rs747784144 CA874429 |
403 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874427 rs770063699 |
406 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA340505362 rs1335746060 |
406 | H>Y | No |
ClinGen gnomAD |
|
|
rs1459344209 CA340505338 |
408 | F>V | No |
ClinGen Ensembl |
|
|
rs781713808 CA874425 |
409 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA874402 rs748402840 |
410 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA874403 rs758466472 |
410 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs889845405 CA22829461 |
411 | D>V | No |
ClinGen TOPMed |
|
|
CA874401 rs779047620 |
412 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA874400 rs754800923 |
413 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 415 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA874399 rs528999910 |
416 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA874398 rs373510383 |
417 | P>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA874397 rs563096570 |
420 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA22829439 rs867450471 |
421 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA22829438 rs1050194922 |
422 | M>L | No |
ClinGen TOPMed |
|
|
rs1291442753 CA340504686 |
422 | M>T | No |
ClinGen gnomAD |
|
|
CA874396 rs750395520 |
423 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA874395 rs369717535 |
424 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA340504646 rs1373445674 |
425 | V>A | No |
ClinGen gnomAD |
|
|
rs749931866 CA874393 |
425 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340504557 rs1326956430 |
432 | M>I | No |
ClinGen gnomAD |
|
|
rs776916660 CA874390 |
432 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761158506 CA874388 |
434 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761158506 CA874389 |
434 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773660053 CA874387 |
435 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA22829398 rs1043203637 |
436 | K>R | No |
ClinGen TOPMed |
|
|
rs371955958 CA874386 |
437 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371955958 CA340504532 COSM3419342 |
437 | Q>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA340504529 rs1479303939 |
437 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 439 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA874385 rs748228435 |
439 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22829368 rs948483327 |
440 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA874384 rs144488409 |
440 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA874383 rs768956612 |
441 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874382 rs749523417 |
442 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874381 rs141170672 |
443 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340504482 rs1557608417 |
444 | I>T | No |
ClinGen Ensembl |
|
|
rs1277688688 CA340504466 COSM1602577 |
446 | T>I | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs756026704 CA874380 |
449 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 449 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs916132802 CA22829347 |
450 | P>S | No |
ClinGen Ensembl |
|
|
rs750369460 CA874379 |
452 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs75052518 CA874378 |
453 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs866933604 CA22829315 |
454 | K>M | No |
ClinGen Ensembl |
|
|
rs756767176 CA874377 |
454 | K>Q | No |
ClinGen ExAC |
|
|
CA340504381 rs1569986942 |
460 | Q>* | No |
ClinGen Ensembl |
|
|
rs1433128570 CA340504360 |
463 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757101105 CA874357 |
463 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA874359 rs147164468 |
463 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751531218 CA874356 |
465 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340504266 rs1458254745 |
465 | H>Y | No |
ClinGen gnomAD |
|
|
rs777253900 CA874355 |
469 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139281548 CA874354 RCV000709902 |
474 | E>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs139281548 CA340504207 |
474 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1048902363 CA22824955 |
476 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 478 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752316570 CA874353 |
478 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1182070598 CA340504178 |
479 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340504171 rs1569949457 |
480 | V>L | No |
ClinGen Ensembl |
|
|
CA340504156 rs1240146799 |
482 | K>R | No |
ClinGen gnomAD |
|
|
rs754684908 CA874351 |
484 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs931774415 CA22824928 |
484 | S>R | No |
ClinGen Ensembl |
|
|
CA340504135 rs1557600991 |
485 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA874350 rs750715843 |
486 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA874349 rs767925458 |
487 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1166440521 CA340504118 |
488 | E>V | No |
ClinGen gnomAD |
|
|
rs1321186809 CA340504102 |
490 | I>K | No |
ClinGen gnomAD |
|
|
CA340504106 rs1459498850 |
490 | I>L | No |
ClinGen gnomAD |
|
|
rs188798726 CA874347 |
491 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340504090 rs1360090902 |
492 | D>G | No |
ClinGen gnomAD |
|
|
rs140047407 CA874346 |
492 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202200331 CA874344 |
493 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340504066 COSM3771786 rs1459465492 |
495 | E>D | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA340504069 rs1324462678 |
495 | E>G | No |
ClinGen gnomAD |
|
|
rs776233368 TCGA novel CA340504059 |
496 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs746132055 CA874342 |
496 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA874340 rs770818735 |
497 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1296357758 CA340504050 |
498 | R>K | No |
ClinGen TOPMed |
|
|
rs746916179 CA874339 |
498 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA340504045 rs1187744698 |
499 | K>* | No |
ClinGen gnomAD |
|
|
CA340504046 rs1187744698 |
499 | K>E | No |
ClinGen gnomAD |
|
|
rs1212324898 CA340504036 |
500 | E>G | No |
ClinGen TOPMed |
|
|
CA340504038 rs1449844777 |
500 | E>Q | No |
ClinGen gnomAD |
|
|
rs777729559 CA874338 |
501 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874325 rs150604810 |
502 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340504011 rs150604810 |
502 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA874326 rs765361620 |
502 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1223873385 CA340504002 |
504 | L>M | No |
ClinGen TOPMed |
|
|
rs770601344 CA874323 |
504 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs746871872 CA874322 |
505 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 508 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA874318 rs139236074 |
511 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA874320 rs374134703 |
511 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA874319 rs374134703 |
511 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs139236074 CA340503955 |
511 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144051493 CA874317 |
514 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340503936 rs1388070399 |
514 | S>T | No |
ClinGen gnomAD |
|
|
rs1048959527 CA22823898 |
515 | E>G | No |
ClinGen TOPMed |
|
|
rs1306804038 CA340503933 |
515 | E>K | No |
ClinGen gnomAD |
|
|
rs1039174290 CA22823897 |
518 | R>K | No |
ClinGen TOPMed |
|
|
rs758901077 CA874293 |
520 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA340503642 rs778224850 |
520 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs890678065 CA22823884 |
522 | E>A | No |
ClinGen TOPMed |
|
|
rs1269292269 CA340503604 |
522 | E>D | No |
ClinGen gnomAD |
|
|
rs138668500 CA874292 |
522 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA874291 rs566948413 |
523 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs944419790 CA22823882 |
524 | V>I | No |
ClinGen TOPMed |
|
|
rs1052199359 CA22823878 |
525 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs377258165 CA874290 |
525 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200184899 CA874289 |
526 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200841160 CA22823877 |
526 | K>R | No |
ClinGen 1000Genomes |
|
|
CA22823873 rs201568983 |
527 | T>A | No |
ClinGen 1000Genomes |
|
|
CA340503530 rs1243621644 |
528 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340503518 rs1422751071 |
529 | N>K | No |
ClinGen TOPMed |
|
|
CA340503521 rs1340663269 |
529 | N>S | No |
ClinGen gnomAD |
|
|
CA874287 rs760831538 |
531 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs946334458 CA22823854 |
532 | P>L | No |
ClinGen TOPMed |
|
|
rs750704733 CA874286 |
532 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874285 rs530031551 |
533 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761632640 CA874284 |
534 | I>K | No |
ClinGen ExAC |
|
|
rs962737189 CA22823044 |
535 | D>E | No |
ClinGen Ensembl |
|
|
CA874282 rs188719293 |
535 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs188719293 CA22823844 |
535 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340503448 rs1388671148 |
535 | D>V | No |
ClinGen gnomAD |
|
|
CA874283 rs188719293 |
535 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA874253 rs749801475 |
540 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA340503042 rs1235158238 |
540 | E>V | No |
ClinGen gnomAD |
|
|
rs1332924377 CA340503030 |
541 | A>G | No |
ClinGen gnomAD |
|
|
rs780575057 CA874252 |
542 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745896135 CA874250 |
544 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874251 rs745896135 |
544 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781280574 CA874249 |
546 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1016728404 CA22823026 |
547 | Q>E | No |
ClinGen Ensembl |
|
|
CA874248 rs757401849 |
549 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 550 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22823021 rs777463867 |
552 | E>G | No |
ClinGen Ensembl |
|
|
rs1026583931 CA22823019 |
554 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA22823016 rs868832642 |
555 | R>I | No |
ClinGen Ensembl |
|
|
CA874247 rs751743100 |
556 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs369027992 CA22823013 |
556 | F>V | No |
ClinGen ESP |
|
|
rs763935060 CA874246 |
557 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA874242 rs755707826 |
558 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs755707826 CA874243 |
558 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs752657753 CA874244 |
558 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs776217671 CA874241 |
559 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874239 rs368189394 |
561 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA874238 rs772811670 |
562 | K>N | No |
ClinGen ExAC gnomAD |
|
|
COSM192581 CA874237 rs140787553 |
563 | S>L | large_intestine endometrium Variant assessed as Somatic; 4.665e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA874235 rs775852084 |
565 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs375013787 CA874233 |
568 | S>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs771022694 CA874211 |
569 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs143486105 CA874210 |
572 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340502086 rs143486105 |
572 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770138573 CA874208 |
573 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1350275442 CA340502072 |
573 | L>W | No |
ClinGen TOPMed |
|
|
rs748625569 CA22821303 |
576 | D>N | No |
ClinGen TOPMed |
|
|
CA340501980 rs1229573233 |
579 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 580 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779925731 CA874186 |
581 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs906011227 CA22820523 |
582 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1299817782 CA340501961 |
582 | Q>R | No |
ClinGen gnomAD |
|
|
CA22820519 rs866108041 |
583 | E>* | No |
ClinGen Ensembl |
|
|
CA874185 rs755936045 |
584 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA874184 rs745827794 |
585 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303187371 CA340501923 |
588 | D>H | No |
ClinGen gnomAD |
|
|
CA874183 rs202151258 |
588 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA874182 rs756827633 |
589 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA22820507 rs751181247 |
590 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874181 rs751181247 |
590 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167770802 CA340501909 |
590 | V>I | No |
ClinGen gnomAD |
|
|
CA874180 rs763688886 |
591 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1173881667 CA340501899 |
592 | L>M | No |
ClinGen gnomAD |
|
|
CA874179 rs758078595 |
592 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA874178 rs754136864 |
593 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA340501871 rs773838481 |
596 | E>* | No |
ClinGen ExAC TOPMed |
|
|
rs767467547 CA874173 |
596 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs773838481 CA874175 |
596 | E>Q | No |
ClinGen ExAC TOPMed |
|
|
CA340501865 rs1206404319 |
597 | S>P | No |
ClinGen gnomAD |
|
|
CA874160 rs369200338 |
600 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA874159 rs752454985 |
600 | E>A | No |
ClinGen ExAC |
|
|
rs752454985 CA340501050 |
600 | E>G | No |
ClinGen ExAC |
|
| TCGA novel | 601 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756545159 CA874157 COSM1246663 |
604 | K>E | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA340500966 rs1337115975 |
605 | M>I | No |
ClinGen gnomAD |
|
|
rs1310378305 CA340500949 |
606 | W>* | No |
ClinGen gnomAD |
|
|
CA22815374 rs998694774 |
610 | F>C | No |
ClinGen TOPMed |
|
|
CA874156 rs750875434 |
612 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1172595836 CA340500864 |
613 | P>Q | No |
ClinGen gnomAD |
|
|
rs902860619 CA22815359 |
613 | P>T | No |
ClinGen gnomAD |
|
|
rs1305009911 CA340500833 |
615 | E>G | No |
ClinGen TOPMed |
|
|
rs1391645926 CA340500842 |
615 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs751618771 CA874152 |
617 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA874151 rs764278886 |
618 | E>Q | No |
ClinGen ExAC |
|
| rs751048223 | 618 | E>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA874148 rs377674429 |
621 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340500730 rs1226002117 |
622 | A>G | No |
ClinGen TOPMed |
|
|
rs928086337 CA22815323 |
624 | E>K | No |
ClinGen Ensembl |
|
|
rs759424291 CA874145 |
625 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA874144 rs776321677 |
626 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340500690 rs776321677 |
626 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375737740 CA874143 |
627 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340500658 rs1169988842 |
628 | F>L | No |
ClinGen TOPMed |
|
|
CA22814052 rs952784691 |
628 | F>S | No |
ClinGen TOPMed |
|
|
rs1214061551 CA340500652 |
629 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA874123 rs770772371 |
631 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1359660051 CA340500632 |
632 | N>K | No |
ClinGen gnomAD |
|
|
rs760602803 CA874122 |
635 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332799837 CA340500597 CA340500596 COSM192570 |
637 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs995066235 COSM1343632 CA22814043 |
637 | K>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA22814042 rs200077958 |
638 | K>E | No |
ClinGen 1000Genomes gnomAD |
|
|
CA340500576 rs1341450725 |
640 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 641 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340500561 rs1270683890 |
642 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA340500558 rs1432737806 |
642 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA874120 rs773176269 |
643 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs868438698 CA22814024 COSM274244 |
645 | R>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs868438698 CA340500540 |
645 | R>T | No |
ClinGen gnomAD |
|
|
CA340500529 rs1306610648 |
646 | M>I | No |
ClinGen gnomAD |
|
|
CA340500531 rs1367660852 |
646 | M>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 647 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340500516 rs1429512044 |
648 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA340500510 rs1420926908 |
649 | E>* | No |
ClinGen gnomAD |
|
|
rs1170162820 CA340500501 |
650 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 651 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771551292 CA874118 |
652 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA874117 rs747648790 |
653 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs778322045 CA874116 |
653 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1557579099 CA340500478 |
654 | R>G | No |
ClinGen Ensembl |
|
|
CA874115 rs768283074 |
656 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340500460 rs768283074 |
656 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874097 CA340499544 rs76493848 |
659 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA874094 rs748963038 |
660 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874095 rs748963038 |
660 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775319980 CA874093 |
662 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1212146172 CA340499458 |
663 | I>T | No |
ClinGen TOPMed |
|
|
CA874092 rs138521505 |
667 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340499377 rs1325777572 |
668 | T>R | No |
ClinGen gnomAD |
|
|
rs961467447 CA22809205 |
669 | A>P | No |
ClinGen Ensembl |
|
|
CA340499357 rs1475464369 |
669 | A>V | No |
ClinGen gnomAD |
|
|
CA340499354 rs1417100400 |
670 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778313010 CA874090 |
671 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747327418 CA874091 |
671 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1557575954 CA340499329 |
672 | C>Y | No |
ClinGen Ensembl |
|
|
CA874087 rs368256067 |
677 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779048051 CA874086 |
678 | N>K | No |
ClinGen ExAC |
|
|
CA874085 rs755054806 |
679 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA22809182 rs755054806 |
679 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754040697 CA874084 |
681 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA340499057 rs766542150 |
685 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766542150 CA874083 |
685 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156251576 CA340499008 |
688 | G>R | No |
ClinGen gnomAD |
|
|
CA874080 rs368085558 |
691 | L>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767226081 CA874079 |
692 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA340498917 rs1557575820 |
693 | V>A | No |
ClinGen Ensembl |
|
|
rs761792933 CA874078 |
693 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA874076 rs753946859 |
694 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22809156 rs531185433 |
694 | I>V | No |
ClinGen 1000Genomes |
|
|
rs1569829645 CA340498908 |
695 | D>G | No |
ClinGen Ensembl |
|
|
CA22809147 rs1049414545 |
695 | D>Y | No |
ClinGen gnomAD |
|
|
rs762598750 CA340498885 |
696 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762598750 CA874075 |
696 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462566734 CA340498879 |
697 | T>A | No |
ClinGen gnomAD |
|
|
CA874074 rs775161863 |
697 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA874072 rs745529582 COSM3771785 |
698 | E>K | Variant assessed as Somatic; 4.644e-05 impact. pancreas breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA22809133 rs200167070 |
699 | Q>* | No |
ClinGen Ensembl |
|
|
CA874071 rs773613671 |
699 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227789935 CA340498817 |
700 | N>H | No |
ClinGen TOPMed |
|
|
rs772385732 CA340498742 |
704 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA874070 rs772385732 |
704 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA874069 rs374940779 |
705 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370195906 CA874068 |
705 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340498720 rs374940779 |
705 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA874067 rs755534793 |
706 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 707 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA874065 rs780116211 |
710 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs199667769 CA874044 |
712 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA874042 rs200605296 |
713 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA874041 rs757524202 |
714 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs112183545 CA874040 |
715 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340498425 rs1176441199 |
716 | I>T | No |
ClinGen gnomAD |
|
|
rs1569828431 CA340498403 |
717 | E>D | No |
ClinGen Ensembl |
|
|
rs570842875 CA874037 |
718 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874018 CA874019 rs778942627 |
722 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA340498221 rs1287186994 |
723 | H>Y | No |
ClinGen TOPMed |
|
|
CA340498167 rs1391753886 |
725 | S>I | No |
ClinGen gnomAD |
|
|
CA874015 rs753217057 |
726 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA874016 rs754993998 |
726 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406968360 CA340498130 |
727 | S>* | No |
ClinGen gnomAD |
|
|
rs137895268 CA874013 |
728 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340498100 rs1363407707 |
729 | P>W | No |
ClinGen gnomAD |
|
|
rs764415056 CA874012 |
729 | P>Y | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q5VWT5
1 regional properties for Q5VWT5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Fucosyltransferase, N-terminal | 75 - 183 | IPR031481 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| immunological synapse | An area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell formed through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and the target cell and facilitating activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cell adhesion mediated by integrin | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via an integrin, a heterodimeric adhesion receptor formed by the non-covalent association of particular alpha and beta subunits. |
| integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEGEGVRNFK | ELRAKFQNLD | APPLPGPIKF | PAGVSPKGDI | GGTQSTQILA | NGKPLSSNHK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QRTPYCSSSE | SQPLQPQKIK | LAQKSEIPKC | SNSPGPLGKS | TVCSATSSQK | ASLLLEVTQS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NVEIITKEKV | MVANSFRNKL | WNWEKVSSQK | SEMSSALLLA | NYGSKAIHLE | GQKGMGLTPE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EPRKKLETKG | AQTLPSQKHV | VAPKILHNVS | EDPSFVISQH | IRKSWENPPP | ERSPASSPCQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PIYECELASQ | APEKQPDVRH | HHLPKTKPLP | SIDSLGPPPP | KPSRPPIVNL | QAFQRQPAAV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PKTQGEVTVE | EGSLSPERLF | NAEFEEPHNY | EATISYLRHS | GNSINLCTAK | EIADPTYEVG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IEELQKPGKN | FPYPEPSAKH | EDKKMKEKQP | CELKPKNTEK | EPYSNHVFKV | DACEGTPEKI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QMTNVHTGRR | NMLAGKQEAM | IDIIQTNPCP | EGPKLARHSQ | GHCGHLEVLE | STKETPDLGV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SKTSSISEEI | YDDVEYSRKE | VPKLNYSSSL | ASSSEENREL | YEDVYKTKNN | YPKIDLDGKE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ALKRLQQFFK | KEKDRFKIKK | TKSKENLSAF | SILLPDLELK | SQEVIIYDDV | DLSEKESKDE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DKLKMWKPKF | LTPKEKKEKN | GAEESESFSP | RNFFKTKKQN | LEKNRMKREE | KLFRERFKYD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KEIIVINTAV | ACSNNSRNGI | FDLPISPGEE | LEVIDTTEQN | LVICRNSKGK | YGYVLIEHLD |
| FKHQSWSP |