Q5T1A1
PR
Gene name |
DCST2 |
Protein name |
DC-STAMP domain-containing protein 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:127579 |
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 Q5T1A1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5T1A1-F1 | Predicted | AlphaFoldDB |
730 variants for Q5T1A1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1307363926 CA342685100 |
3 | K>N | No |
ClinGen gnomAD |
|
|
CA1135858 rs532500382 |
3 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1377015621 CA342684962 |
7 | D>Y | No |
ClinGen gnomAD |
|
|
CA1135856 rs751838213 |
8 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs370377585 CA1135855 |
10 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135854 rs763386265 |
10 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs773521202 CA1135853 |
10 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs370377585 CA342684835 |
10 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135851 rs762360737 |
12 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439802556 CA342684787 |
12 | L>V | No |
ClinGen TOPMed |
|
|
CA1135845 rs745672147 |
13 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745672147 CA1135846 |
13 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135850 CA1135848 rs75680976 |
13 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1135847 rs745672147 |
13 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs75680976 CA1135849 |
13 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757237262 CA1135843 |
14 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs752911803 | 14 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342684704 rs757237262 |
14 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342684701 rs757237262 |
14 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753865793 CA1135840 |
19 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1135839 rs375433169 |
20 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1135838 COSM1498635 rs200996276 |
20 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM896737 CA342684491 rs1407512243 |
22 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs763147014 CA1135835 |
25 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs567368171 CA1135833 |
25 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567368171 CA1135834 |
25 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135832 rs762272835 |
26 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1135831 rs200036164 |
26 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342684293 rs200036164 |
26 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200036164 CA1135830 |
26 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1451951619 CA342684216 |
27 | V>A | No |
ClinGen gnomAD |
|
|
CA1135828 rs116816743 |
27 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1135827 rs116816743 |
27 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1188822265 CA342684155 |
29 | G>A | No |
ClinGen gnomAD |
|
|
CA342684154 rs1188822265 |
29 | G>V | No |
ClinGen gnomAD |
|
|
CA1135824 rs142520132 |
30 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1227786330 CA342684018 |
32 | L>R | No |
ClinGen gnomAD |
|
|
CA342684068 rs1187630786 |
32 | L>V | No |
ClinGen gnomAD |
|
|
CA1135822 rs538572982 |
33 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA30886369 rs930261111 |
33 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA342683133 rs754944240 COSM1661396 |
35 | S>C | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1135821 rs754944240 |
35 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA342683112 rs1348179645 |
36 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 36 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149274774 CA1135820 |
38 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1135818 rs758618986 |
39 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750679762 CA1135817 |
40 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135815 rs757635178 |
41 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA342683033 rs1326777547 |
41 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1388199538 CA342683011 |
42 | L>F | No |
ClinGen gnomAD |
|
|
rs1407155380 CA342682942 |
44 | E>D | No |
ClinGen gnomAD |
|
|
CA1135814 rs754277951 |
45 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1163163558 CA342682868 |
47 | V>M | No |
ClinGen gnomAD |
|
|
rs1244188141 CA342682793 |
50 | H>Q | No |
ClinGen gnomAD |
|
|
CA1135811 rs775044356 |
50 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA342682760 rs1191557053 |
52 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA30885251 rs927419175 |
53 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 53 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1135808 rs114853794 |
55 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1135809 rs114853794 |
55 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342682658 rs1213725840 |
57 | V>G | No |
ClinGen gnomAD |
|
|
rs749096475 CA1135806 |
59 | T>I | No |
ClinGen ExAC TOPMed |
|
|
rs749096475 CA342682627 |
59 | T>S | No |
ClinGen ExAC TOPMed |
|
|
rs773205509 CA1135805 |
61 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA342682575 rs1227671175 |
63 | A>D | No |
ClinGen gnomAD |
|
|
CA342682581 rs1475891380 |
63 | A>P | No |
ClinGen gnomAD |
|
|
rs1332841313 CA342682553 |
65 | F>V | No |
ClinGen TOPMed |
|
|
CA342682469 rs1340057809 |
70 | M>L | No |
ClinGen gnomAD |
|
|
COSM896735 CA1135802 rs780145380 |
74 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs376847671 CA1135801 COSM206658 |
74 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1135803 rs780145380 |
74 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746035813 CA1135800 |
75 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1031318872 CA30885204 |
76 | V>G | No |
ClinGen TOPMed |
|
|
CA30885211 rs867482858 |
76 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs200007303 CA1135798 |
77 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1135797 rs200007303 |
77 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764416481 CA1135796 |
77 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774224073 CA1135795 |
79 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368986160 CA1135794 |
79 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1389114280 CA342682217 |
81 | L>P | No |
ClinGen gnomAD |
|
|
CA1135793 rs767002632 |
85 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 85 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751187024 CA1135791 |
87 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1135792 rs759128604 |
87 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs766122420 CA1135790 |
89 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs375920803 CA1135774 |
91 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342681758 rs751096984 |
91 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375920803 CA342681808 |
91 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30885014 rs866091086 |
91 | Q>P | No |
ClinGen gnomAD |
|
|
CA1135770 rs192247760 |
93 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373815194 CA1135772 |
93 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA30884999 rs769980165 |
94 | T>A | No |
ClinGen Ensembl |
|
|
CA1135767 rs528535055 |
97 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139391176 CA1135768 |
97 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1409525451 CA342681544 |
99 | A>V | No |
ClinGen gnomAD |
|
|
rs1179460262 CA342681524 |
100 | A>T | No |
ClinGen gnomAD |
|
|
CA1135766 rs768568509 |
101 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135764 rs774384504 |
104 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1135765 rs760655550 |
104 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749475771 CA1135762 |
105 | L>P | No |
ClinGen ExAC |
|
| TCGA novel | 110 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1135761 rs777869310 |
112 | T>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1334525 CA1135760 rs770129510 |
114 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1135759 rs748453181 |
114 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770129510 CA342681116 |
114 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781726241 CA1135758 |
115 | N>S | No |
ClinGen ExAC |
|
|
CA342681050 rs1571554639 |
117 | T>I | No |
ClinGen Ensembl |
|
|
rs1571554644 CA342681060 |
117 | T>P | No |
ClinGen Ensembl |
|
|
CA1135757 rs755517935 |
118 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135756 rs752149567 |
119 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 120 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779665410 CA1135755 |
120 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135754 rs757997712 |
121 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA342680949 rs1289885935 |
122 | A>V | No |
ClinGen gnomAD |
|
|
CA342680934 rs1430995396 |
123 | V>A | No |
ClinGen gnomAD |
|
|
CA342680943 rs1472670529 |
123 | V>I | No |
ClinGen TOPMed |
|
|
CA342680921 rs1328317536 |
124 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA342680904 rs1346611835 |
124 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 128 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156231212 CA342680760 |
130 | A>S | No |
ClinGen gnomAD |
|
|
CA1135753 rs750029965 |
132 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA30884928 rs941790736 |
132 | N>T | No |
ClinGen Ensembl |
|
|
rs764796484 CA1135752 |
133 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs372557819 CA1135751 |
134 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342680657 rs1571554555 |
134 | T>P | No |
ClinGen Ensembl |
|
|
rs147724938 CA1135749 |
135 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1135747 rs775426912 |
136 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA342680526 rs1371234929 |
137 | V>G | No |
ClinGen TOPMed |
|
|
rs766386179 CA1135746 |
137 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs762946216 CA1135745 |
138 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321705050 CA342680479 |
140 | R>G | No |
ClinGen gnomAD |
|
|
CA1135744 rs145708585 |
142 | K>E | No |
ClinGen ESP ExAC |
|
|
rs149783012 CA1135743 |
142 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376401618 CA342680369 |
143 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376401618 CA1135742 |
143 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs917867322 CA30884881 |
144 | P>R | No |
ClinGen Ensembl |
|
| TCGA novel | 145 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30884875 rs992039584 |
146 | V>L | No |
ClinGen Ensembl |
|
|
CA30884849 rs965249573 |
147 | S>R | No |
ClinGen TOPMed |
|
|
CA342680189 rs1344100428 |
148 | A>T | No |
ClinGen TOPMed |
|
|
CA1135729 rs144162992 |
149 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135728 rs144162992 |
149 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1432692902 CA342680095 |
153 | K>E | No |
ClinGen gnomAD |
|
|
rs1571553950 CA342680054 |
155 | I>V | No |
ClinGen Ensembl |
|
|
rs1015172314 CA30884547 |
156 | A>G | No |
ClinGen gnomAD |
|
|
CA1135725 rs1207259159 |
156 | A>S | No |
ClinGen TOPMed |
|
|
rs1015172314 CA342680016 |
156 | A>V | No |
ClinGen gnomAD |
|
|
CA1135723 rs139266910 |
157 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372382713 CA1135724 |
157 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135722 rs777009731 |
158 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA1135721 rs769077264 |
159 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230670548 CA342679956 |
160 | K>E | No |
ClinGen gnomAD |
|
|
rs754838125 CA1135720 |
161 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754838125 CA342679934 |
161 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776059649 CA1135719 |
163 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs201683928 CA1135718 |
165 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1135716 rs368130513 |
165 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135717 rs201683928 |
165 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748879929 CA1135714 |
167 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777405648 CA1135713 |
167 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171011834 CA342679844 |
168 | K>R | No |
ClinGen gnomAD |
|
|
CA1135711 rs537163038 |
169 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755830539 CA1135712 |
169 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA342679786 rs1472116770 |
170 | F>L | No |
ClinGen TOPMed |
|
|
rs754836792 CA342679763 |
171 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754836792 CA1135709 |
171 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1135710 rs781085737 |
171 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 172 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148649840 CA1135708 |
173 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 174 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376003986 CA1135707 |
175 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 178 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342679582 rs1198368128 |
179 | H>Y | No |
ClinGen gnomAD |
|
|
CA1135705 rs754040467 |
180 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342679536 rs1350435859 |
181 | A>P | No |
ClinGen TOPMed |
|
|
rs1326732107 CA342679262 |
181 | A>V | No |
ClinGen gnomAD |
|
|
CA1135686 CA1135687 rs755399004 |
182 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1389211875 CA342679191 |
183 | A>G | No |
ClinGen gnomAD |
|
|
CA30883913 rs966512323 |
184 | L>F | No |
ClinGen TOPMed |
|
|
rs759947215 CA1135683 |
185 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190515815 CA1135684 |
185 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1135682 rs774644319 |
186 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570005094 CA1135681 |
187 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA30883904 rs1027954959 |
188 | W>* | No |
ClinGen Ensembl |
|
|
CA1135679 rs772674334 |
189 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342679064 rs1238805360 |
190 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs769320973 CA1135678 |
192 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs780907912 CA1135676 |
193 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1339797573 CA342678997 |
193 | H>Y | No |
ClinGen gnomAD |
|
|
CA1135675 rs201047852 |
194 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1438739533 CA342678924 |
195 | G>D | No |
ClinGen gnomAD |
|
|
rs779766461 CA1135673 |
195 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30883872 rs995283355 |
196 | D>H | No |
ClinGen TOPMed |
|
|
rs777951990 CA1135670 |
197 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1372790360 CA342678860 |
198 | C>Y | No |
ClinGen gnomAD |
|
|
CA1135668 rs752797871 |
199 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1424694001 CA342678816 |
199 | N>Y | No |
ClinGen TOPMed |
|
|
CA1135667 rs767773424 |
200 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs143867546 CA1135666 |
203 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs547638567 CA1135665 |
205 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766769037 CA1135664 |
207 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA1135663 rs763405583 |
209 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1135661 rs764666751 |
211 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135662 rs150660804 |
211 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342678439 rs1330217002 |
212 | V>I | No |
ClinGen TOPMed |
|
|
CA1135660 rs562006776 |
213 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342678303 rs1281333099 |
214 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1203159 CA30883834 rs370622842 |
214 | D>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
| TCGA novel | 215 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs543441000 CA1135658 |
217 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342678161 rs1344477900 |
218 | D>N | No |
ClinGen TOPMed |
|
|
CA1135655 rs772014989 |
221 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1135656 rs775315045 |
221 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1306485199 CA342677947 |
224 | I>L | No |
ClinGen gnomAD |
|
|
CA342677924 rs1409627438 |
224 | I>M | No |
ClinGen gnomAD |
|
|
rs868145197 CA30883826 |
227 | A>V | No |
ClinGen gnomAD |
|
|
rs200307131 CA30883819 |
228 | Y>C | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1376498595 CA342677860 |
228 | Y>H | No |
ClinGen gnomAD |
|
|
rs1176300275 CA342677791 |
229 | H>Y | No |
ClinGen gnomAD |
|
|
CA342677711 rs376516711 |
232 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745744158 CA1135654 |
232 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA1135652 rs373275652 |
233 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 234 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs536165704 CA30883781 |
235 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA1135650 rs536165704 |
235 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA342677529 rs1237881781 |
240 | A>T | No |
ClinGen gnomAD |
|
|
rs200765902 CA1135649 |
240 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135647 rs201138965 |
244 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138461125 CA1135644 |
247 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1135619 rs550110036 |
248 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1042618523 CA342676251 |
250 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA30883382 rs1042618523 |
250 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1135618 rs774256382 |
250 | V>M | No |
ClinGen ExAC |
|
|
CA342676242 rs1356226690 |
251 | F>S | No |
ClinGen TOPMed |
|
|
rs1433749759 CA342676221 |
253 | V>I | No |
ClinGen gnomAD |
|
|
rs747052954 CA1135612 |
257 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780159208 CA1135610 |
259 | Q>P | No |
ClinGen ExAC |
|
|
rs375967114 CA30883351 |
260 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135609 rs375967114 |
260 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342676116 rs1558102407 |
262 | L>F | No |
ClinGen Ensembl |
|
|
rs140493991 COSM896732 CA1135607 |
263 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs140493991 CA342676113 |
263 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371287152 COSM206657 CA1135605 |
263 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs371287152 CA1135606 |
263 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs973953162 CA30883325 |
266 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA30883309 rs368661864 |
267 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA30883313 rs1015405793 |
267 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA342676073 rs368661864 |
267 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1135603 rs564132121 |
269 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564132121 CA1135602 |
269 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200655798 CA30883029 |
270 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA342675998 rs1423991338 |
271 | I>T | No |
ClinGen gnomAD |
|
|
rs375004161 CA342675983 |
272 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147037575 CA1135570 |
275 | N>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs147037575 CA1135571 |
275 | N>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA342675949 rs1210496117 |
276 | R>Q | No |
ClinGen gnomAD |
|
|
COSM1162421 rs370155627 CA1135569 |
276 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA342675938 rs1571551128 |
277 | V>G | No |
ClinGen Ensembl |
|
|
CA1135568 rs770301707 |
277 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377731845 CA1135567 |
278 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs781765660 CA1135566 COSM896731 |
278 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA342675920 rs1342437704 |
279 | Q>L | No |
ClinGen gnomAD |
|
|
rs755608584 CA1135565 |
282 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1389461112 CA342675871 |
283 | F>L | No |
ClinGen gnomAD |
|
|
CA1135563 rs779661891 |
284 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1456051566 CA342675856 |
285 | M>V | No |
ClinGen gnomAD |
|
|
rs757949067 CA1135562 |
286 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA342675819 rs764884039 |
288 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1571551068 CA342675824 |
288 | T>P | No |
ClinGen Ensembl |
|
|
CA1135560 rs764884039 |
288 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs753702818 CA1135558 |
289 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342675809 rs1179035964 |
289 | H>Q | No |
ClinGen TOPMed |
|
|
rs764008128 CA1135557 |
290 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 291 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751560220 CA1135555 |
294 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA1135556 rs760657686 |
294 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA342675752 rs1283504558 |
296 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs141193101 CA1135554 |
296 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs568279939 COSM1203158 CA1135552 |
299 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC |
|
CA1135553 rs535606593 |
299 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs770216293 CA1135551 |
300 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1180112454 CA342675711 |
301 | L>M | No |
ClinGen Ensembl |
|
|
rs1394310706 CA342675694 |
303 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA30882926 rs979091152 |
303 | Q>R | No |
ClinGen TOPMed |
|
|
CA1135550 rs144139932 |
304 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342675681 rs144139932 |
304 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 306 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777191888 CA1135549 |
306 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1433018833 CA342675667 |
306 | M>V | No |
ClinGen gnomAD |
|
|
CA342675650 rs1571550953 |
307 | D>A | No |
ClinGen Ensembl |
|
|
rs1324752740 CA342675641 |
308 | L>F | No |
ClinGen gnomAD |
|
|
CA1135547 rs201009643 |
309 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769262833 CA1135548 |
309 | H>Y | No |
ClinGen ExAC |
|
|
CA1135545 rs149729324 COSM176378 |
310 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs778536356 CA1135543 |
313 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs189518972 CA1135542 |
318 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1135541 rs189518972 |
318 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1474128194 CA342675534 |
318 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA342675531 rs1474128194 |
318 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1241056153 CA342675518 |
320 | R>* | No |
ClinGen gnomAD |
|
|
CA1135540 rs41264279 |
320 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1480338383 CA342675504 |
321 | E>G | No |
ClinGen TOPMed |
|
|
rs1270020391 CA342675509 |
321 | E>Q | No |
ClinGen TOPMed |
|
|
CA342675497 rs1453311233 |
322 | A>T | No |
ClinGen gnomAD |
|
|
rs756002723 CA1135539 |
322 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA342675478 rs1345966088 |
323 | L>R | No |
ClinGen gnomAD |
|
|
CA1135536 rs763088650 |
324 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342675470 rs1280122159 |
324 | A>T | No |
ClinGen gnomAD |
|
|
rs763088650 CA342675463 |
324 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 325 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199767411 CA30882841 |
325 | L>V | No |
ClinGen Ensembl |
|
|
rs991368259 CA30882835 |
329 | T>I | No |
ClinGen Ensembl |
|
|
CA30882830 rs199920613 |
330 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135534 COSM3689032 rs199920613 |
330 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1135535 rs199920613 |
330 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 332 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201478634 CA1135532 |
336 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565548701 CA30882817 |
338 | Y>H | No |
ClinGen Ensembl |
|
|
CA342675190 rs1571550828 |
338 | Y>S | No |
ClinGen Ensembl |
|
|
rs1417775921 CA342675180 |
339 | L>F | No |
ClinGen TOPMed |
|
|
rs1558101778 CA342674988 |
341 | A>D | No |
ClinGen Ensembl |
|
|
CA342674901 rs375468532 |
345 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA342674889 rs775781123 |
345 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135510 rs775781123 |
345 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30882592 rs375468532 |
345 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1135509 rs768049974 |
346 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286806435 CA342674799 |
349 | L>V | No |
ClinGen gnomAD |
|
|
rs1558101744 CA342674737 |
351 | W>* | No |
ClinGen Ensembl |
|
|
rs1284393641 CA342674709 |
353 | H>R | No |
ClinGen gnomAD |
|
|
rs561922204 CA1135507 |
353 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1403255101 CA342674617 |
357 | I>M | No |
ClinGen gnomAD |
|
|
CA1135506 rs770447615 |
357 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135505 rs748879555 |
358 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571550457 CA342674584 |
360 | T>P | No |
ClinGen Ensembl |
|
|
rs147359914 CA1135504 |
362 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342674550 rs147359914 |
362 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342674547 rs1390783522 |
362 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs747961590 CA1135502 COSM1203157 |
365 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1135500 COSM896727 rs200847364 |
365 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200847364 CA1135501 |
365 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200847364 CA342674464 |
365 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342674458 rs1236953677 |
366 | M>V | No |
ClinGen TOPMed |
|
|
CA1135498 rs779079585 |
368 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1135497 rs138589439 |
368 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs188808511 CA1135496 |
370 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1135494 rs201083456 |
370 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201083456 CA1135495 |
370 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753076814 CA1135493 |
371 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs767806728 CA1135492 |
371 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs138904334 COSM463082 CA1135491 |
372 | T>M | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA342674277 rs1247646222 |
374 | G>A | No |
ClinGen gnomAD |
|
|
rs1571550355 CA342674266 |
375 | L>P | No |
ClinGen Ensembl |
|
|
CA1135489 rs554275177 |
376 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342674237 rs1435213889 |
377 | T>R | No |
ClinGen gnomAD |
|
|
rs772766407 CA1135487 |
378 | V>L | No |
ClinGen ExAC |
|
|
rs201752543 CA1135483 |
380 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201752543 CA1135482 |
380 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342674186 rs1350238256 |
380 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1135480 rs746879456 |
381 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA1135479 rs780136070 |
382 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA30882328 rs746460381 |
382 | S>N | No |
ClinGen Ensembl |
|
|
rs781386052 CA30882321 |
383 | A>V | No |
ClinGen Ensembl |
|
|
CA342674110 rs201803286 |
384 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1259823990 CA342674115 |
384 | H>R | No |
ClinGen gnomAD |
|
|
rs749360215 CA1135477 |
385 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749360215 CA342674106 |
385 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756322401 CA1135475 |
386 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1135474 rs371970604 COSM239531 |
388 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs200223587 CA1135473 |
388 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342674047 rs371970604 |
388 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342673995 rs1390695641 |
389 | Y>N | No |
ClinGen gnomAD |
|
|
rs755338188 CA1135472 |
389 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs751983174 CA1135471 |
391 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1135470 rs368042911 |
392 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1135468 rs749917529 |
392 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135469 rs749917529 |
392 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342673114 rs1248005388 |
395 | I>F | No |
ClinGen gnomAD |
|
|
CA342673117 rs1248005388 |
395 | I>L | No |
ClinGen gnomAD |
|
|
CA1135444 rs775389496 |
398 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759463160 CA1135442 |
400 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs974303971 CA30881697 |
401 | E>K | No |
ClinGen Ensembl |
|
|
CA342672976 rs151211024 |
403 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151211024 CA1135439 |
403 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs962851946 CA30881677 |
404 | F>C | No |
ClinGen Ensembl |
|
|
CA1135437 rs149078228 |
405 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs774746029 | 405 | Y>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1135436 rs370384521 |
406 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1001250372 CA30881643 |
408 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1135434 rs148897324 |
408 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs538003467 CA1135433 |
409 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342672723 rs1469677839 |
409 | T>I | No |
ClinGen gnomAD |
|
|
CA1135432 rs576979808 |
411 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342672624 rs1240255802 |
412 | L>I | No |
ClinGen TOPMed |
|
|
rs1275141722 CA342672604 |
413 | I>V | No |
ClinGen Ensembl |
|
|
CA1135430 rs757832765 |
414 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA30881605 rs528566473 |
414 | R>Q | No |
ClinGen Ensembl |
|
|
rs753257833 CA1135429 |
416 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA1135427 rs755780982 |
418 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1135425 rs200037746 |
419 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1571549349 CA342672308 |
424 | F>L | No |
ClinGen Ensembl |
|
|
rs1206863857 CA342672289 |
425 | L>I | No |
ClinGen gnomAD |
|
|
rs774255936 CA1135423 |
427 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342672224 rs1348264563 |
427 | Y>N | No |
ClinGen gnomAD |
|
|
rs773215070 CA30881583 |
428 | A>T | No |
ClinGen Ensembl |
|
|
rs1240290145 CA342672158 |
430 | F>S | No |
ClinGen TOPMed |
|
|
rs1361865585 CA342672055 |
433 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 436 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458225351 CA342671994 |
436 | A>T | No |
ClinGen TOPMed |
|
|
rs1312960641 CA342671977 |
436 | A>V | No |
ClinGen gnomAD |
|
|
CA342671976 rs762986521 |
437 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135420 rs776652393 |
437 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135421 rs762986521 |
437 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381079127 CA342671919 |
439 | Q>H | No |
ClinGen gnomAD |
|
|
CA342671926 rs1320846068 |
439 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs367713471 CA1135419 |
440 | L>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA1135418 rs747174677 |
441 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30881540 rs891238309 |
443 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1135417 rs775686346 |
445 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30881529 rs147350301 |
447 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA342671768 rs147350301 |
447 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA342671755 rs1443444533 |
447 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1443444533 CA342671740 |
447 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs891744381 CA30881525 |
448 | S>G | No |
ClinGen Ensembl |
|
|
rs144159530 CA1135399 |
449 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135398 rs760731516 |
449 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs144159530 CA342671039 |
449 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 450 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342670990 rs1420122786 |
452 | V>A | No |
ClinGen TOPMed |
|
|
rs1030887746 CA30880213 |
452 | V>L | No |
ClinGen Ensembl |
|
|
rs746134111 CA1135395 |
456 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450414188 CA342670922 |
458 | G>S | No |
ClinGen gnomAD |
|
|
rs141585921 CA1135394 |
459 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135391 rs146130973 |
461 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1135392 rs749749545 |
461 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569572281 CA1135393 |
461 | Y>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747637806 CA1135389 |
462 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs117550971 CA30880122 |
462 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs780886317 CA1135388 |
464 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA342670819 rs1234797354 |
464 | N>I | No |
ClinGen gnomAD |
|
|
CA1135387 rs754546539 |
467 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200424533 CA1135386 |
467 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779656157 CA1135385 CA342670749 |
468 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571546767 CA342670751 |
468 | D>G | No |
ClinGen Ensembl |
|
|
rs1206055525 CA342670743 |
470 | V>M | No |
ClinGen gnomAD |
|
|
rs758217116 CA1135384 |
472 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1135383 rs750278151 |
473 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 473 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342670717 rs1376044950 |
474 | D>N | No |
ClinGen gnomAD |
|
|
CA1135381 rs761781789 |
478 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA342670627 rs1250358922 |
479 | G>S | No |
ClinGen gnomAD |
|
|
rs752735684 CA1135379 |
481 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs767661072 CA1135378 |
482 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA342670400 rs1175683346 |
485 | S>Y | No |
ClinGen gnomAD |
|
|
rs774641817 CA1135376 |
486 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135377 rs759621213 |
486 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135374 rs540346650 |
487 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201423942 CA1135372 |
487 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201423942 CA1135373 |
487 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763782736 CA30880057 |
489 | L>F | No |
ClinGen Ensembl |
|
|
rs138360951 CA30880045 |
491 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1334521 CA1135369 rs140460207 |
491 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA342670238 rs140460207 |
491 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1135370 rs138360951 |
491 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135367 rs199571532 |
493 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199571532 CA1135368 |
493 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30880009 rs924679307 |
495 | P>L | No |
ClinGen Ensembl |
|
|
CA342670120 rs1388540773 |
496 | D>N | No |
ClinGen gnomAD |
|
|
rs935265817 CA30880007 |
496 | D>V | No |
ClinGen TOPMed |
|
|
CA1135365 rs750188363 |
497 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA342670050 rs1232969265 |
498 | T>I | No |
ClinGen TOPMed |
|
|
CA30879983 rs138732547 |
500 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA342670002 rs1221652937 |
500 | Y>H | No |
ClinGen gnomAD |
|
|
rs757138608 CA1135363 |
501 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs199908001 CA1135364 |
501 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs977458312 CA30879963 |
503 | I>L | No |
ClinGen Ensembl |
|
|
rs765092835 CA30879950 |
503 | I>T | No |
ClinGen TOPMed gnomAD |
|
| rs896377649 | 504 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342669895 rs1267541360 |
504 | G>C | No |
ClinGen TOPMed |
|
|
CA1135341 rs749108165 |
505 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 506 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1135339 rs756052451 |
506 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756052451 CA342669659 |
506 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135340 rs777757292 |
506 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs751623759 CA1135338 |
507 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA342669553 rs1166425046 |
512 | F>L | No |
ClinGen TOPMed |
|
|
rs766398746 CA1135337 |
513 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA342669490 rs1271581257 |
514 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1571546284 CA342669493 |
514 | T>P | No |
ClinGen Ensembl |
|
|
CA342669489 rs1271581257 |
514 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA342669470 rs1224186386 |
515 | L>R | No |
ClinGen gnomAD |
|
|
CA1135334 rs765629301 |
516 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135333 rs762263892 |
518 | S>G | No |
ClinGen ExAC |
|
|
CA342669405 rs1249208919 |
518 | S>N | No |
ClinGen gnomAD |
|
|
rs1204629983 CA342669384 |
519 | Y>H | No |
ClinGen gnomAD |
|
|
rs1399014049 CA342669362 |
520 | V>I | No |
ClinGen TOPMed |
|
|
rs200106067 CA1135332 |
521 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218006962 CA342669304 |
521 | S>R | No |
ClinGen gnomAD |
|
|
rs764632737 CA1135331 |
521 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs4845403 CA342669301 |
522 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775018034 CA1135329 |
522 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs4845403 CA1135330 |
522 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA30879655 rs559840094 |
524 | R>Q | No |
ClinGen gnomAD |
|
|
CA1135327 rs745459696 |
524 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135326 rs773990501 |
525 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA342669247 rs1293929991 |
525 | R>Q | No |
ClinGen TOPMed |
|
|
rs1571546192 CA342669222 |
526 | V>G | No |
ClinGen Ensembl |
|
|
rs1352907569 CA342669135 |
530 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 532 | Y>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1341457973 CA889645425 |
532 | Y>* | No |
ClinGen TOPMed |
|
|
CA1135324 rs749084412 |
532 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30879645 rs749084412 |
532 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777464714 CA1135323 |
533 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA342669001 rs1197749238 COSM3788767 |
534 | S>F | urinary_tract Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs150983219 CA1135321 |
535 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1135322 rs756035896 |
535 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266200424 CA342668967 |
536 | E>* | No |
ClinGen gnomAD |
|
|
rs1266200424 CA342668980 |
536 | E>K | No |
ClinGen gnomAD |
|
|
CA342668932 rs1481324855 |
537 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs745920027 CA1135302 |
538 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs745920027 CA1135301 |
538 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1291005181 CA342667966 |
541 | S>P | No |
ClinGen gnomAD |
|
|
rs1454977450 CA342667955 |
542 | Y>H | No |
ClinGen gnomAD |
|
|
rs1361683464 CA342667932 |
543 | L>P | No |
ClinGen gnomAD |
|
|
CA342667922 rs1558098835 |
544 | Y>F | No |
ClinGen Ensembl |
|
|
rs1558098830 CA342667908 |
545 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs778134559 CA1135297 |
545 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1135295 rs753121850 |
546 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA1135296 rs756433214 |
546 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342667867 rs1262113120 |
547 | L>V | No |
ClinGen gnomAD |
|
|
CA1135294 rs767993617 |
548 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA30876298 rs920730946 |
550 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs751026527 CA1135292 |
550 | R>H | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1135291 rs765893190 |
551 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342667825 rs765893190 |
551 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135290 rs141344484 |
551 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1135289 rs141344484 |
551 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA30876266 rs915089292 |
553 | N>D | No |
ClinGen TOPMed |
|
|
CA342667786 rs1244615843 |
553 | N>S | No |
ClinGen gnomAD |
|
|
rs1182235643 CA342667751 |
555 | L>F | No |
ClinGen gnomAD |
|
|
CA30876261 rs1053666689 |
556 | A>G | No |
ClinGen Ensembl |
|
|
rs1306446057 CA342667704 |
557 | A>V | No |
ClinGen TOPMed |
|
|
CA1135285 rs768674583 |
560 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368870199 CA342667647 |
560 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368870199 CA1135284 |
560 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1285666390 CA342667638 |
561 | S>* | No |
ClinGen TOPMed |
|
|
CA342667614 rs1221548815 |
563 | R>M | No |
ClinGen TOPMed |
|
|
CA1135280 rs749453334 |
564 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757889228 CA1135281 |
564 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144331940 CA1135277 |
565 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756412235 CA1135278 |
565 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA1135276 rs137944418 |
566 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1135275 rs137944418 |
566 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342667574 rs1222063933 |
568 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs762363458 CA1135272 |
570 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342667458 rs1289633005 |
574 | A>V | No |
ClinGen gnomAD |
|
|
CA342667437 rs1287844395 |
575 | F>C | No |
ClinGen gnomAD |
|
|
rs1340198195 CA342667435 |
575 | F>L | No |
ClinGen gnomAD |
|
|
CA30876160 rs958534521 |
577 | V>E | No |
ClinGen TOPMed |
|
|
CA1135270 rs764773838 |
578 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342667340 rs1347027775 |
581 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs373083804 COSM206654 CA1135268 |
581 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA342667249 rs1571543826 |
582 | C>G | No |
ClinGen Ensembl |
|
|
rs1272716791 CA342667214 |
583 | P>R | No |
ClinGen gnomAD |
|
|
CA1135260 rs748387252 |
587 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1399503767 CA342667116 |
588 | F>L | No |
ClinGen gnomAD |
|
|
rs780410553 CA1135257 |
590 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1020967525 CA30875707 |
591 | H>P | No |
ClinGen Ensembl |
|
|
rs758992444 CA1135255 |
591 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342667014 rs1571543782 |
593 | W>C | No |
ClinGen Ensembl |
|
|
CA30875688 rs553217445 |
596 | Q>K | No |
ClinGen 1000Genomes |
|
|
rs1470830336 CA342666958 |
596 | Q>R | No |
ClinGen gnomAD |
|
|
CA1135254 rs749869584 |
597 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1422871027 CA342666927 |
597 | A>P | No |
ClinGen gnomAD |
|
|
rs116667331 CA1135252 |
598 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342666842 rs1415219973 |
599 | C>* | No |
ClinGen gnomAD |
|
|
CA342666815 rs1571543730 |
602 | C>G | No |
ClinGen Ensembl |
|
|
rs1571543719 CA342666798 |
602 | C>W | No |
ClinGen Ensembl |
|
|
rs1571543726 CA342666812 |
602 | C>Y | No |
ClinGen Ensembl |
|
|
rs1457406142 CA342666781 |
603 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs893885407 CA30875658 |
603 | G>R | No |
ClinGen Ensembl |
|
|
rs148294919 CA1135251 |
608 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342666672 rs1321842318 |
609 | G>E | No |
ClinGen gnomAD |
|
|
rs763908556 CA1135250 |
609 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472915419 CA342666666 |
610 | D>H | No |
ClinGen gnomAD |
|
|
CA1135249 rs374042568 |
612 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA342666569 rs1239038803 |
613 | N>S | No |
ClinGen gnomAD |
|
|
rs1218209999 CA342666578 |
613 | N>Y | No |
ClinGen gnomAD |
|
|
CA30875648 rs775406904 |
616 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1135248 rs775406904 |
616 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1135246 rs767330225 |
617 | C>S | No |
ClinGen ExAC TOPMed |
|
|
rs149534256 CA1135244 |
618 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1571543654 CA342666463 |
619 | T>P | No |
ClinGen Ensembl |
|
|
CA1135242 rs748299451 |
620 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1135240 rs200561857 |
621 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1333294040 CA342666378 |
622 | C>R | No |
ClinGen gnomAD |
|
|
CA1135238 rs747350544 |
623 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 623 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410407116 CA342666352 |
624 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA342666213 rs1305177200 |
624 | G>V | No |
ClinGen TOPMed |
|
|
CA30875250 rs375153295 |
625 | L>F | No |
ClinGen ESP gnomAD |
|
|
rs1431104048 CA342666182 |
625 | L>R | No |
ClinGen gnomAD |
|
|
CA342666157 rs1366504358 |
627 | C>R | No |
ClinGen TOPMed |
|
|
rs1177300166 CA342666130 |
628 | L>F | No |
ClinGen gnomAD |
|
|
CA342666101 rs1198007359 |
629 | T>I | No |
ClinGen gnomAD |
|
|
rs370032179 CA30875232 |
629 | T>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA342666064 rs1329229020 |
631 | F>L | No |
ClinGen TOPMed |
|
|
CA1135203 COSM3788766 rs764181998 |
632 | R>C | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs147505393 CA1135202 |
632 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202182731 CA1135200 |
636 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1135201 rs371707758 |
636 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135198 rs774894145 |
637 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs375988286 CA1135195 |
640 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135194 rs375988286 |
640 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1404719161 CA342665903 |
642 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA342665911 rs1404719161 |
642 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1135193 rs372016677 |
642 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs559500409 CA1135192 |
644 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs541267276 CA1135190 |
646 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1177856961 CA342665760 |
647 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs779856965 CA1135189 |
647 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1263795892 CA1135187 |
648 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1135186 rs758283250 |
649 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342665718 rs1386072224 |
649 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 650 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1135185 rs200302219 |
650 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200302219 CA1135184 |
650 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1198490271 CA342665670 |
651 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1135183 rs201788023 |
652 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342665655 rs201788023 |
652 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1135182 rs752767358 |
654 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1351522512 CA342665606 |
655 | L>P | No |
ClinGen gnomAD |
|
|
rs757180720 CA1135165 |
656 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 657 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172588165 CA342664834 |
658 | S>N | No |
ClinGen gnomAD |
|
|
CA1135162 rs755166177 |
659 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 660 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1135161 rs751831385 |
660 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766778547 CA1135160 |
662 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs766778547 CA30874925 |
662 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA342664730 rs1209697729 |
664 | Q>H | No |
ClinGen gnomAD |
|
|
CA342664732 rs763399486 |
664 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763399486 CA1135159 |
664 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773764058 CA1135158 |
666 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342664700 rs1338384555 |
667 | L>Q | No |
ClinGen TOPMed |
|
|
CA1135157 rs765746329 |
668 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1217149044 CA342664674 |
669 | A>E | No |
ClinGen gnomAD |
|
|
rs1217149044 CA342664665 |
669 | A>V | No |
ClinGen gnomAD |
|
|
CA1135156 rs762259367 |
670 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135155 rs776158967 |
670 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342664629 rs1369390301 |
672 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1135153 rs746588465 |
674 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA342664597 rs1321050331 |
675 | P>S | No |
ClinGen gnomAD |
|
|
CA342664561 rs1400920992 |
678 | A>S | No |
ClinGen gnomAD |
|
|
CA342664565 rs1400920992 |
678 | A>T | No |
ClinGen gnomAD |
|
|
CA1135151 rs771759702 |
679 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA1135150 rs745630100 |
680 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135148 rs770849267 |
684 | Q>* | No |
ClinGen ExAC TOPMed |
|
|
rs1375949217 CA342664468 |
686 | Q>* | No |
ClinGen gnomAD |
|
|
rs781261884 CA1135146 |
687 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs751751353 CA1135144 |
688 | V>A | No |
ClinGen ExAC |
|
|
CA1135145 rs374671082 |
688 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370249543 CA1135142 |
690 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135141 rs370249543 |
690 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342664417 rs1264145062 |
691 | R>S | No |
ClinGen gnomAD |
|
|
CA1135140 rs202210059 |
693 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 693 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762323869 CA1135139 |
695 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342664359 rs1272771113 |
696 | E>D | No |
ClinGen gnomAD |
|
|
rs1553258488 CA342664331 |
699 | S>F | No |
ClinGen Ensembl |
|
|
CA342664329 rs1333271663 |
700 | E>K | No |
ClinGen gnomAD |
|
|
CA342664313 rs1444491954 |
702 | S>R | No |
ClinGen gnomAD |
|
|
CA342664309 rs1300915253 |
702 | S>T | No |
ClinGen TOPMed |
|
|
rs373089065 CA1135122 |
705 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135121 rs200943269 |
706 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs774601504 | 707 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342663660 rs1558095995 |
708 | K>N | No |
ClinGen Ensembl |
|
|
CA30872180 rs865802476 |
708 | K>R | No |
ClinGen Ensembl |
|
|
rs754276669 CA1135119 |
709 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186580938 CA342663627 |
711 | Q>* | No |
ClinGen TOPMed |
|
|
CA1135116 rs376614202 |
712 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342663596 rs1290489241 |
713 | R>K | No |
ClinGen gnomAD |
|
|
CA342663595 rs1229972846 |
713 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1135113 rs773866616 |
714 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1135114 rs373443674 |
714 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135115 rs373443674 |
714 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135111 rs370200297 CA342663557 |
716 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342663555 rs370200297 |
716 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs898169705 CA342663466 |
719 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA30872149 rs898169705 |
719 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1135109 rs769816556 |
721 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1135108 rs748120484 |
722 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs775655201 CA1135107 |
724 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 725 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772282695 CA1135106 |
725 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA1135105 rs746027446 |
726 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342663313 rs1269895452 |
726 | P>S | No |
ClinGen TOPMed |
|
|
rs1236600771 CA342663287 |
727 | V>A | No |
ClinGen TOPMed |
|
|
CA1135104 rs376562403 |
729 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1135102 rs199916941 |
733 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749574086 CA1135101 |
735 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA30872119 rs778131489 |
736 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778131489 CA1135100 |
736 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342662962 rs1272519900 |
737 | R>T | No |
ClinGen gnomAD |
|
|
CA342662837 rs1193440459 |
741 | T>S | No |
ClinGen TOPMed |
|
|
CA30872101 rs200361669 |
742 | S>P | No |
ClinGen Ensembl |
|
|
rs768075327 CA1135097 |
743 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135098 rs768075327 |
743 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30872098 rs778569738 |
744 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs763376207 CA1135092 |
750 | T>* | No |
ClinGen ExAC gnomAD |
|
|
rs1171379489 CA342662599 |
750 | T>I | No |
ClinGen TOPMed |
|
|
CA342662568 rs1434881158 |
752 | A>V | No |
ClinGen gnomAD |
|
|
CA1135090 rs765139185 |
755 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs761777453 CA1135089 |
756 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs774519160 CA1135085 |
758 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1135086 rs745904765 |
758 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1135083 rs201399069 |
759 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1443139919 CA342662373 |
760 | S>L | No |
ClinGen TOPMed |
|
|
CA342662385 rs376878658 |
760 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376878658 CA1135082 |
760 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs948868168 CA30872069 |
761 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1135080 rs372351512 |
763 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1347298814 CA342662328 |
763 | S>P | No |
ClinGen TOPMed |
|
|
rs1313022208 CA342662294 |
765 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750995971 CA1135077 |
771 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA342662175 rs1370414221 |
771 | P>L | No |
ClinGen gnomAD |
|
|
rs750995971 CA1135078 |
771 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1135076 rs192742085 |
772 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342662166 rs1482519126 |
772 | P>S | No |
ClinGen gnomAD |
|
|
CA1135075 rs757932434 |
774 | K>K | No |
ClinGen ExAC |
|
|
CA342662126 rs757932434 |
774 | K>Q | No |
ClinGen ExAC |
No associated diseases with Q5T1A1
1 regional properties for Q5T1A1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Dendritic cell-specific transmembrane protein-like | 354 - 544 | IPR012858 |
Functions
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q059Y8 | Dcst1 | E3 ubiquitin-protein ligase DCST1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPKVMKDVVH | PLGGEEPSMA | RAVVRSVGGF | TLGLSLATAY | GLLELLVEGH | SPWGCLVGTL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TLAAFLSLGM | GFSRQVRATV | LLLLPQAFSR | QGRTLLLVAA | FGLVLQGPCA | NTLRNFTRAS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EAVACGAELA | LNQTAEVLQR | AKQPLVSALN | KIKAIARKTK | EVADRVRKFF | RSIMDGVKHI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ARALRNVWQW | LLHIGDVCNS | ELGNPYLKCA | RVFDDAKDSC | MMVIPQAYHL | CYVLMPFKLA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LCGLASLVQV | FCVIPKYIQP | FLRQTIGTPV | IQLLNRVRQE | FEFNMTATHH | FSVDLNASRS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LSQVAMDLHE | AVSMKLHRVR | EALALMGFTT | PLLLVLLYLQ | ALFYRYCYLN | WDHYDNIYIT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SRFLRMEAVR | STAGLPTVLP | LSAHEARRYI | PPGSIFLSQW | EKFFYILETF | NLIRHLLLVL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FLVFLDYAVF | WVLDLARHQL | QGEIVARSPV | LVSLTVEGTG | YAGNIYRDLV | SAFDVLQQGN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ISILSRRCLL | RPSEPDSTGY | IVIGVMYGLC | FFITLFGSYV | SRLRRVICAS | YYPSREQERI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SYLYNVLLSR | RTNLLAALHR | SVRRRAADQG | HRSAFLVLAS | RCPCLGPFVS | HFWLHQAYCL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GCGQPQDEGD | MENTVSCSTP | GCQGLYCLTC | FRLLDNTCSV | CASPLSYQGD | LDLELDSSDE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EGPQLWLAAA | QRKDPEQAWL | LQQQLQEVLG | RSLSMESTSE | SSDLDEEKGP | QQRKHGQQPL |
| 730 | 740 | 750 | 760 | 770 | |
| PEAHQPVSIL | TSPEPHRPPE | TSSATKGAPT | PASEPSVPLS | PPSLPDPSHP | PPK |