A1A5B4
PR
Gene name |
ANO9 (PIG5, TMEM16J, TP53I5) |
Protein name |
Anoctamin-9 |
Names |
Transmembrane protein 16J, Tumor protein p53-inducible protein 5, p53-induced gene 5 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:338440 |
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 A1A5B4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A1A5B4-F1 | Predicted | AlphaFoldDB |
752 variants for A1A5B4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM1178576 RCV000149027 rs193920739 CA174134 |
682 | D>E | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1325101887 CA378920107 |
3 | G>D | No |
ClinGen TOPMed |
|
|
rs200333682 CA5777908 |
4 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs570161702 CA5777907 |
8 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1406807973 CA378920074 |
8 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA216910276 rs899130504 |
10 | L>R | No |
ClinGen Ensembl |
|
|
rs1253103486 CA378920043 |
13 | P>H | No |
ClinGen TOPMed |
|
|
rs777434943 CA378920040 |
14 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs777434943 CA216910266 |
14 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1009204630 CA216910262 |
15 | G>R | No |
ClinGen TOPMed |
|
|
CA378920028 rs1176855871 |
16 | D>N | No |
ClinGen gnomAD |
|
|
rs1254116240 CA378920013 |
17 | S>R | No |
ClinGen gnomAD |
|
|
CA5777906 rs373153111 |
19 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378920002 rs1216103637 |
19 | P>S | No |
ClinGen gnomAD |
|
|
rs1050402861 CA216910234 |
20 | L>M | No |
ClinGen TOPMed |
|
|
CA378919989 rs1224737550 |
21 | M>I | No |
ClinGen gnomAD |
|
|
CA5777903 rs369975069 |
22 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs143515712 CA5777902 |
23 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA216910218 rs940696345 |
25 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5777901 rs777707419 |
27 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777883 rs772062472 |
29 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309948148 CA378919920 |
30 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1277748276 CA378919915 |
30 | A>V | No |
ClinGen gnomAD |
|
|
rs1342093928 CA378919910 |
31 | S>Y | No |
ClinGen gnomAD |
|
|
rs1364900124 CA378919908 |
32 | E>K | No |
ClinGen TOPMed |
|
|
rs1281450096 CA378919894 |
33 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA378919886 rs1399212782 |
34 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 35 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356319931 CA378919862 |
37 | V>A | No |
ClinGen gnomAD |
|
|
CA5777881 rs137970750 |
39 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5777880 rs137970750 |
39 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA216910106 rs959725880 |
40 | A>V | No |
ClinGen Ensembl |
|
|
CA378919839 rs376326016 |
41 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs560447716 COSM1183057 CA5777877 |
42 | R>C | pancreas large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs115334173 CA5777876 |
42 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA216910089 rs954601385 |
43 | H>R | No |
ClinGen TOPMed |
|
|
rs1475773306 CA378919824 |
44 | T>N | No |
ClinGen gnomAD |
|
|
rs1256354641 CA378919810 |
46 | R>I | No |
ClinGen gnomAD |
|
|
CA378919803 rs1183244631 |
47 | D>A | No |
ClinGen gnomAD |
|
|
rs761932258 CA378919800 CA378919799 |
47 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA378919802 rs1183244631 |
47 | D>G | No |
ClinGen gnomAD |
|
|
rs1198784823 CA378919795 |
48 | P>L | No |
ClinGen gnomAD |
|
|
rs1236414520 CA378919796 |
48 | P>S | No |
ClinGen gnomAD |
|
|
rs142684170 COSM3687296 CA5777873 |
49 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs781760385 CA5777874 |
49 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216910074 rs1015044756 |
51 | A>T | No |
ClinGen TOPMed |
|
|
rs12575508 CA5777872 |
51 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752943942 CA5777869 |
52 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777870 rs762968393 |
52 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765485674 CA5777868 |
53 | Q>* | No |
ClinGen ExAC |
|
|
CA5777867 rs760459687 |
54 | Q>* | No |
ClinGen ExAC |
|
|
rs372036792 CA5777866 |
54 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5777865 rs771868048 |
55 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1170611975 CA378919748 |
56 | F>L | No |
ClinGen gnomAD |
|
|
rs1462234626 CA378919741 |
58 | E>K | No |
ClinGen gnomAD |
|
|
CA5777864 rs761770162 |
62 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378919710 rs761770162 |
62 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378919702 rs1289756303 |
63 | K>R | No |
ClinGen TOPMed |
|
|
rs886638920 CA378919695 |
64 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA216910024 rs886638920 |
64 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA216910017 rs866733344 |
65 | F>L | No |
ClinGen Ensembl |
|
|
CA5777862 rs768188976 |
65 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA378919682 rs1236214849 |
66 | H>Q | No |
ClinGen gnomAD |
|
|
rs748786456 CA5777861 |
66 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA216910005 rs1057481875 |
67 | I>V | No |
ClinGen TOPMed |
|
|
CA378919648 rs1590497992 |
69 | V>G | No |
ClinGen Ensembl |
|
|
rs769428721 CA5777829 |
71 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777830 rs775078390 COSM3397675 |
71 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5777828 rs545589353 |
72 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376797736 CA5777827 |
77 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5777826 rs771307243 |
78 | F>S | No |
ClinGen ExAC TOPMed |
|
|
rs1489483151 CA378919576 |
80 | I>T | No |
ClinGen TOPMed |
|
|
rs778341013 CA5777824 |
81 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758888521 CA5777823 |
81 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777822 rs150163423 |
83 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM69670 rs1478101719 CA378919547 |
85 | S>G | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA5777821 rs140845766 |
88 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5777820 rs376307434 |
89 | L>P | No |
ClinGen ESP ExAC |
|
|
CA5777817 rs148031221 |
91 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757068080 CA5777816 |
91 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751366227 CA5777814 |
92 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA216909606 rs7395065 VAR_054621 |
93 | L>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA378919500 rs7395065 |
93 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs7395065 CA378919499 |
93 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA378919493 rs1564927539 |
94 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 97 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1341728414 CA378919470 COSM458640 |
98 | E>K | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5777810 rs574123017 |
100 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 100 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA216909596 rs775522462 |
100 | P>T | No |
ClinGen Ensembl |
|
|
CA5777809 rs140611251 |
101 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1418760562 CA378919442 |
102 | P>L | No |
ClinGen gnomAD |
|
|
rs79329594 CA5777808 |
103 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs79329594 CA5777807 |
103 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5777804 COSM1508331 rs145003945 |
103 | H>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA378919441 rs79329594 |
103 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5777802 rs773392501 |
104 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772490219 CA5777801 |
104 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs779445613 CA5777799 |
105 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779445613 CA378919431 |
105 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779445613 CA378919432 |
105 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487619023 CA378919422 |
106 | L>P | No |
ClinGen TOPMed |
|
|
CA5777797 rs749436060 |
107 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378919417 rs749436060 |
107 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216909581 rs749436060 |
107 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750658238 CA5777794 |
108 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs948388602 CA216909574 |
108 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758294086 CA5777792 |
109 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378919396 rs1163448227 |
111 | T>I | No |
ClinGen TOPMed |
|
|
rs759115851 CA5777789 |
112 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs115130824 CA5777786 |
113 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs115130824 CA5777787 |
113 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA216909559 rs939909020 |
113 | P>S | No |
ClinGen Ensembl |
|
|
CA5777783 rs762205356 |
115 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1341946892 CA378919374 |
116 | T>A | No |
ClinGen gnomAD |
|
|
rs145422022 CA378919371 |
116 | T>K | No |
ClinGen ESP |
|
|
rs145422022 CA216909541 |
116 | T>M | No |
ClinGen ESP |
|
|
rs761709193 CA5777753 |
118 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777752 rs761709193 |
118 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761709193 CA5777754 |
118 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777751 rs200422652 |
121 | R>* | Variant assessed as Somatic; 4.634e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5777750 rs755574497 |
121 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1335989657 CA378919328 |
122 | I>F | No |
ClinGen TOPMed |
|
|
CA378919320 rs1237406168 |
123 | V>A | No |
ClinGen gnomAD |
|
|
CA378919319 rs1237406168 |
123 | V>G | No |
ClinGen gnomAD |
|
|
rs201378244 CA5777748 |
123 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1275380059 CA378919308 |
125 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5777745 COSM242976 rs139380371 |
126 | V>I | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA378919294 rs1302729305 |
127 | V>A | No |
ClinGen gnomAD |
|
|
rs372358668 CA5777743 |
128 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5777744 rs768220355 |
128 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 131 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5777741 rs759523041 |
132 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777742 rs759523041 |
132 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378919260 rs1590485882 |
132 | T>P | No |
ClinGen Ensembl |
|
|
rs1477223878 CA378919254 |
133 | S>L | No |
ClinGen gnomAD |
|
|
CA5777739 rs771140047 |
133 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 135 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 136 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378919217 rs1373187060 |
137 | T>S | No |
ClinGen TOPMed |
|
|
CA5777715 rs761952675 |
138 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs373933628 CA378919207 |
139 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777714 rs373933628 |
139 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745754735 CA378919201 |
140 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA5777712 rs745754735 |
140 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1564924341 CA378919200 |
140 | D>V | No |
ClinGen Ensembl |
|
|
rs745754735 CA5777713 |
140 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA378919192 rs1405915764 |
141 | L>P | No |
ClinGen gnomAD |
|
|
rs770392555 CA5777710 |
142 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs746592574 CA378919188 |
142 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746592574 CA5777709 |
142 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151302926 CA378919169 CA378919168 |
144 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1439393216 CA378919164 |
145 | G>E | No |
ClinGen TOPMed |
|
|
CA5777706 rs373349267 |
145 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs917012711 CA216906415 |
147 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 149 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249772914 CA378919141 |
149 | A>T | No |
ClinGen TOPMed |
|
|
rs755322570 CA5777704 |
151 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777702 rs760824164 CA216906401 |
151 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs754375500 CA5777703 |
151 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 152 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5777699 rs527852978 |
153 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5777697 rs147370316 |
154 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773046527 CA5777670 |
156 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA216906175 rs936419250 CA378919088 |
156 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 157 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5777669 rs142717996 |
157 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5777668 rs747653832 |
158 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5777666 rs202095950 |
159 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5777665 rs78972632 |
159 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378919070 rs78972632 |
159 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5777664 rs780526311 |
161 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs756569093 CA5777663 |
162 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA216906104 rs181550038 |
163 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs376898874 CA5777660 |
164 | W>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5777658 rs751644925 |
165 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216906076 rs751644925 |
165 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401256740 CA378919036 |
165 | A>T | No |
ClinGen gnomAD |
|
|
CA5777659 rs751644925 |
165 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372316223 CA378919031 |
166 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378919032 rs372316223 |
166 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5777655 rs372316223 |
166 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs758553517 CA5777656 |
166 | R>W | No |
ClinGen ExAC |
|
|
rs767422491 CA5777651 |
169 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5777652 rs773171904 |
169 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA378919012 rs1479996351 |
169 | H>Y | No |
ClinGen gnomAD |
|
|
CA378919004 rs1315157318 |
170 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5777650 rs761823191 |
170 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5777649 rs773666347 |
171 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs368367811 CA5777648 |
171 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1298027 rs1383368850 CA378918993 |
172 | R>Q | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs748899316 CA5777647 |
172 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378918988 rs1223206723 |
173 | E>A | No |
ClinGen gnomAD |
|
|
rs775328103 CA5777646 |
173 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1209534478 CA378918975 |
175 | P>S | No |
ClinGen TOPMed |
|
|
rs1324361261 CA378918948 |
178 | E>D | No |
ClinGen gnomAD |
|
|
rs375496379 CA216905987 |
180 | R>G | No |
ClinGen ESP |
|
|
rs774373882 CA5777600 |
183 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216905304 rs1007015712 |
184 | G>A | No |
ClinGen TOPMed |
|
|
CA378918895 rs1590468043 |
185 | E>K | No |
ClinGen Ensembl |
|
|
CA378918879 rs1469904094 |
187 | V>M | No |
ClinGen gnomAD |
|
|
rs1312458399 CA378918853 |
191 | F>L | No |
ClinGen TOPMed |
|
|
rs377188275 CA378918846 |
192 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377188275 CA5777593 |
192 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377188275 CA5777594 |
192 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5777591 rs764606613 |
193 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs563934623 CA5777590 |
195 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA216905189 rs866102574 |
196 | W>* | No |
ClinGen TOPMed |
|
|
rs1349933908 CA378918808 |
198 | T>P | No |
ClinGen gnomAD |
|
|
CA378918798 rs1406615677 |
199 | Y>C | No |
ClinGen gnomAD |
|
|
CA378918793 rs761015681 |
200 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761015681 CA5777587 |
200 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113926353 CA5777586 |
202 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5777585 rs767897875 |
203 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378918770 rs1426553236 |
204 | A>T | No |
ClinGen gnomAD |
|
|
CA5777583 rs774970964 |
204 | A>V | No |
ClinGen ExAC |
|
|
rs749448789 CA5777581 |
206 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777579 rs149538516 |
207 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA216905128 rs149538516 |
207 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1301656496 CA378918736 |
210 | L>F | No |
ClinGen gnomAD |
|
|
CA5777577 rs777674119 |
210 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 210 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378918734 rs1218222834 |
211 | V>I | No |
ClinGen TOPMed |
|
|
rs1218222834 CA378918733 |
211 | V>L | No |
ClinGen TOPMed |
|
|
rs1279251293 CA378918712 |
214 | S>N | No |
ClinGen gnomAD |
|
|
CA5777575 rs748079739 |
214 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378918708 rs778954042 |
215 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754442453 CA5777573 |
215 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5777574 rs778954042 |
215 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA378918697 rs1219444910 |
216 | F>L | No |
ClinGen gnomAD |
|
|
CA378918693 rs753446601 |
217 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753446601 CA5777572 |
217 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360181508 CA378918688 |
218 | L>P | No |
ClinGen gnomAD |
|
|
CA378918668 rs1488862357 |
221 | A>S | No |
ClinGen TOPMed |
|
|
rs201272481 CA5777570 |
221 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378918650 rs1427468252 |
223 | Q>H | No |
ClinGen TOPMed |
|
|
CA378918645 rs1478678567 |
224 | I>T | No |
ClinGen TOPMed |
|
|
rs1049023069 CA378918616 |
227 | E>* | No |
ClinGen gnomAD |
|
|
CA216904934 rs1049023069 |
227 | E>K | No |
ClinGen gnomAD |
|
|
rs1564920605 CA378918609 |
228 | I>V | No |
ClinGen Ensembl |
|
|
CA378918598 rs1380604318 |
229 | C>F | No |
ClinGen TOPMed |
|
|
rs757600565 CA378918584 |
231 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757600565 CA216904924 |
231 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757600565 CA5777548 |
231 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243960658 CA378918582 |
232 | H>D | No |
ClinGen gnomAD |
|
|
CA216904899 rs897359800 |
233 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs373063681 CA5777546 |
234 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1445058156 CA378918560 |
235 | L>F | No |
ClinGen TOPMed |
|
|
CA378918552 rs1189426231 |
236 | M>T | No |
ClinGen TOPMed |
|
|
CA378918539 rs1443980933 |
238 | P>T | No |
ClinGen TOPMed |
|
|
CA378918531 rs1365871748 |
239 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA378918532 rs1365871748 |
239 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs868731053 CA216904842 |
240 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA216904848 rs868731053 |
240 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5777542 rs556417851 |
241 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378918523 rs1384468554 |
241 | D>N | No |
ClinGen gnomAD |
|
|
rs895387041 CA216904838 |
244 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA378918500 rs895387041 |
244 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA378918498 rs1176469031 |
244 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5777541 rs765388717 |
245 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378918492 rs765388717 |
245 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378918494 rs1441047457 |
245 | R>W | No |
ClinGen gnomAD |
|
|
CA5777540 rs759733485 |
247 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264552224 CA378918477 |
247 | Q>L | No |
ClinGen gnomAD |
|
|
CA5777538 rs771337995 |
248 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216904830 rs370621568 |
248 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5777537 COSM1188102 rs539902182 |
250 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1201632584 CA378918454 |
251 | E>D | No |
ClinGen TOPMed |
|
|
rs1345673365 CA378918440 |
253 | C>* | No |
ClinGen gnomAD |
|
| TCGA novel | 254 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378918424 rs1590465307 |
256 | A>T | No |
ClinGen Ensembl |
|
|
CA378918377 rs374180690 |
260 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745806187 CA5777513 |
260 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs746653401 CA5777510 |
261 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777511 rs746653401 |
261 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777334120 CA378918365 |
262 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1453229197 CA378918348 |
265 | D>N | No |
ClinGen TOPMed |
|
|
CA5777507 rs202201145 |
266 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs570169810 CA5777506 |
267 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5777505 rs371270441 |
268 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378918321 rs1241777543 |
269 | V>A | No |
ClinGen TOPMed |
|
|
rs376910255 CA5777504 |
270 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5777502 rs766520769 |
271 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs78250177 CA216904489 |
272 | I>L | No |
ClinGen Ensembl |
|
|
CA378918303 rs1316020019 |
272 | I>S | No |
ClinGen TOPMed |
|
|
CA5777501 rs374602093 |
274 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5777500 rs750652031 |
275 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378918280 rs1484449420 |
276 | L>I | No |
ClinGen TOPMed |
|
|
CA378918248 rs1157124968 |
278 | A>D | No |
ClinGen gnomAD |
|
|
CA5777471 rs772534088 |
279 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777472 rs760674852 |
279 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA378918243 rs1490748860 |
280 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 281 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980973206 CA216904327 |
284 | I>F | No |
ClinGen TOPMed |
|
|
CA378918211 rs1266120897 |
284 | I>M | No |
ClinGen gnomAD |
|
|
rs1220259121 CA378918199 |
286 | K>E | No |
ClinGen gnomAD |
|
|
rs375820320 CA5777469 |
287 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5777467 rs769136122 |
287 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs375820320 CA5777468 |
287 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749725060 CA5777466 |
288 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA5777465 rs145473999 |
289 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5777464 rs770127372 |
289 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5777461 rs757375167 |
290 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751747847 CA5777460 |
291 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777459 rs778037587 |
291 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378918172 rs778037587 |
291 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372364809 CA5777457 |
292 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1564919049 CA378918165 |
293 | V>F | No |
ClinGen Ensembl |
|
|
rs1407256698 CA378918153 |
295 | H>Y | No |
ClinGen gnomAD |
|
|
CA5777456 rs766201482 |
296 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA378918134 rs1422701317 |
297 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1036879571 CA216904254 |
297 | D>H | No |
ClinGen TOPMed |
|
|
CA5777455 rs760493737 |
297 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1190066494 CA378918132 |
298 | L>V | No |
ClinGen gnomAD |
|
|
CA378918117 rs1173267436 |
300 | V>G | No |
ClinGen gnomAD |
|
|
CA216904228 rs200540611 |
300 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200540611 CA5777453 |
300 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138896704 CA5777452 CA378918101 |
302 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1582085 rs762694791 CA5777449 |
303 | E>D | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5777450 rs201115458 |
303 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1378865399 CA378918064 |
306 | E>G | No |
ClinGen gnomAD |
|
|
rs956799340 CA216903598 |
306 | E>K | No |
ClinGen gnomAD |
|
|
CA378918058 rs1286231196 |
307 | E>A | No |
ClinGen gnomAD |
|
|
rs1299151612 CA378918055 |
307 | E>D | No |
ClinGen gnomAD |
|
|
CA216903595 rs986489204 COSM1353772 |
307 | E>K | large_intestine Variant assessed as Somatic; impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1356039891 CA378918017 |
313 | I>V | No |
ClinGen gnomAD |
|
|
rs1590455956 CA378918008 |
314 | N>T | No |
ClinGen Ensembl |
|
|
CA216903591 rs1035529458 |
315 | C>Y | No |
ClinGen Ensembl |
|
|
rs747520462 CA5777425 |
317 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183407556 CA378917983 |
318 | Y>D | No |
ClinGen TOPMed |
|
|
CA5777424 rs773235744 |
319 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5777421 rs201493230 |
321 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs576479302 CA5777422 |
321 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA216903528 rs866752866 |
322 | P>L | No |
ClinGen Ensembl |
|
|
CA378917940 rs553345925 |
324 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5777419 rs533514986 |
325 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1481736502 CA378917916 |
328 | L>V | No |
ClinGen gnomAD |
|
|
rs140961109 CA5777418 |
329 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 329 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140961109 CA378917912 |
329 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1204467168 CA378917906 |
330 | S>G | No |
ClinGen gnomAD |
|
|
CA5777415 rs117136259 |
332 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757965623 CA5777414 |
334 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs759125732 CA5777411 |
335 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378917856 rs1187545608 |
338 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1198280423 CA378917859 |
338 | L>V | No |
ClinGen TOPMed |
|
|
CA378917843 rs1305820754 |
340 | M>I | No |
ClinGen gnomAD |
|
|
CA5777410 rs368691943 |
340 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1267877362 CA378917827 |
341 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1267877362 CA378917828 |
341 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1323713029 CA378917805 |
344 | M>T | No |
ClinGen gnomAD |
|
|
CA5777374 rs376108371 |
344 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866438688 CA216903352 |
346 | G>D | No |
ClinGen gnomAD |
|
|
CA378917793 rs143634897 |
346 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5777372 rs143634897 |
346 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767800762 CA5777370 |
347 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs576177666 CA5777371 |
347 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777369 rs199703326 |
350 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA216903335 rs1051915996 |
352 | V>L | No |
ClinGen TOPMed |
|
|
rs752052001 CA5777368 |
353 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378917746 rs1321939380 |
354 | Y>D | No |
ClinGen gnomAD |
|
|
rs1321939380 CA378917747 |
354 | Y>H | No |
ClinGen gnomAD |
|
|
CA5777367 rs764201726 |
355 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5777366 rs763191460 |
355 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA5777364 rs770082944 |
356 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759843431 CA5777363 |
359 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA5777360 rs774199562 |
360 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777361 rs199542627 |
360 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774199562 CA5777359 |
360 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317897142 CA378917686 |
364 | S>T | No |
ClinGen TOPMed |
|
|
rs748857249 CA5777357 |
365 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 366 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781594170 CA5777354 |
367 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777353 rs781594170 |
367 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757601597 CA5777352 |
368 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA378917659 rs1453051630 |
369 | F>Y | No |
ClinGen gnomAD |
|
|
rs752101754 CA5777351 |
372 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777350 rs756941852 CA5777349 |
374 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378917611 rs1208677558 |
376 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs559572219 CA5777345 |
378 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1590453705 CA378917594 |
379 | V>G | No |
ClinGen Ensembl |
|
|
CA378917589 rs1590453691 |
380 | V>G | No |
ClinGen Ensembl |
|
|
CA216903218 rs540244668 |
381 | T>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA5777342 rs774335568 |
382 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216903200 rs868041993 |
383 | A>S | No |
ClinGen Ensembl |
|
|
rs774929644 CA5777338 |
386 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs769339104 CA5777337 |
387 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1456585046 CA378917546 |
388 | V>L | No |
ClinGen TOPMed |
|
|
rs745498518 CA5777335 |
389 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA378917529 rs10794324 |
391 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5777333 rs10794324 |
391 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_032617 CA5777332 rs10794324 |
391 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs778203742 CA5777331 |
393 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1282208191 CA378917516 |
393 | M>V | No |
ClinGen gnomAD |
|
|
CA378917506 rs1194900315 |
394 | T>N | No |
ClinGen gnomAD |
|
|
rs1455310237 CA378917481 |
396 | I>N | No |
ClinGen gnomAD |
|
|
rs1455310237 CA378917480 |
396 | I>T | No |
ClinGen gnomAD |
|
|
rs780190188 CA5777304 |
397 | N>T | No |
ClinGen ExAC gnomAD |
|
|
COSM3979627 CA5777303 rs756239037 |
398 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA216903038 rs10794323 |
399 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs10794323 CA5777302 VAR_032618 |
399 | C>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs552955902 CA5777301 |
399 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5777299 rs139493381 |
400 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378917422 rs1269781883 |
405 | C>W | No |
ClinGen gnomAD |
|
|
CA5777298 rs765101002 |
407 | F>I | No |
ClinGen ExAC |
|
|
rs150509807 CA5777297 |
407 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770497733 CA5777295 |
408 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA5777270 rs184989148 |
409 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA216902811 rs1002574648 |
410 | P>L | No |
ClinGen Ensembl |
|
|
CA5777269 rs776128506 |
412 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166611685 CA378917363 |
413 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5777267 COSM1746226 rs542936963 |
414 | S>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs542936963 CA5777268 |
414 | S>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5777266 rs201008776 |
416 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777265 rs757430374 |
416 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378917334 rs1379611976 |
417 | E>D | No |
ClinGen TOPMed |
|
|
rs747254082 CA5777264 |
418 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590450997 CA378917309 |
421 | T>P | No |
ClinGen Ensembl |
|
|
rs1564915483 CA378917303 |
422 | I>V | No |
ClinGen Ensembl |
|
|
CA378917295 rs1205893825 |
423 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5777263 rs199668517 |
423 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205047578 CA378917251 |
429 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 429 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA216902782 rs1009020835 |
430 | F>Y | No |
ClinGen TOPMed |
|
|
CA5777261 rs753717215 |
432 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315199217 CA378917233 |
432 | H>R | No |
ClinGen gnomAD |
|
|
CA5777260 rs766399672 |
434 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777258 rs376901890 |
436 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5777257 rs767171821 |
438 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs774184253 CA5777255 |
439 | I>F | No |
ClinGen ExAC |
|
|
CA216902765 rs940940079 |
440 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1564915364 CA378917163 |
443 | L>P | No |
ClinGen Ensembl |
|
|
rs370870803 CA216902760 |
443 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775728151 CA5777251 |
444 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs760804824 CA5777229 |
447 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216897356 rs866019724 |
448 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA216897360 rs902906626 |
448 | G>S | No |
ClinGen gnomAD |
|
|
CA216897355 rs768008681 |
449 | H>N | No |
ClinGen Ensembl |
|
|
CA378917115 rs1590415507 |
449 | H>P | No |
ClinGen Ensembl |
|
|
CA216897337 rs545141739 |
449 | H>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
rs768008681 CA216897348 |
449 | H>Y | No |
ClinGen Ensembl |
|
|
CA378917106 rs1483255482 |
451 | G>E | No |
ClinGen TOPMed |
|
|
CA5777227 rs772273791 |
451 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216897315 rs772273791 |
451 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs902400209 CA216897306 |
452 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5777226 rs553196398 |
454 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779854042 CA5777225 |
455 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915561492 CA216897296 |
455 | R>S | No |
ClinGen gnomAD |
|
|
rs141775699 CA5777224 |
457 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378917076 rs1437040858 |
457 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 457 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141775699 CA378917072 |
457 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378917071 rs1157474949 |
458 | G>S | No |
ClinGen TOPMed |
|
|
CA5777222 rs757271878 |
459 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs757271878 CA5777221 |
459 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs751011362 CA378917042 |
462 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1433048706 CA378917030 |
464 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA378916995 rs1485041311 |
467 | A>T | No |
ClinGen gnomAD |
|
|
rs778595345 CA5777198 |
468 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA378916982 rs1340052021 |
469 | G>S | No |
ClinGen gnomAD |
|
|
CA378916964 rs1308817414 |
471 | M>T | No |
ClinGen TOPMed |
|
|
rs754136830 CA5777196 |
472 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1370246554 CA378916955 |
472 | M>R | No |
ClinGen TOPMed |
|
|
rs754640379 CA5777197 |
472 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs138664760 CA5777195 |
473 | D>E | No |
ClinGen ESP ExAC TOPMed |
|
|
CA378916931 rs1310882870 |
476 | V>M | No |
ClinGen gnomAD |
|
|
CA378916919 rs1276468116 |
477 | Q>H | No |
ClinGen TOPMed |
|
|
rs145076904 CA5777193 |
478 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs981792058 CA216897146 |
479 | A>G | No |
ClinGen TOPMed |
|
|
CA378916900 rs1343628718 |
480 | I>T | No |
ClinGen TOPMed |
|
|
rs1309997879 CA378916903 |
480 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA378916883 rs1164137393 |
482 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA378916887 rs1370488228 |
482 | M>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 482 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5777192 rs149591462 |
484 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA378916848 rs1489017002 |
488 | L>V | No |
ClinGen TOPMed |
|
|
rs1193480421 CA378916828 |
490 | N>K | No |
ClinGen TOPMed |
|
|
rs372617082 CA216897132 |
491 | C>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372617082 CA216897137 |
491 | C>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372617082 CA378916824 |
491 | C>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs763296645 CA5777188 |
492 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs763296645 CA378916821 |
492 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1590414319 CA378916805 |
494 | Y>S | No |
ClinGen Ensembl |
|
|
rs957587714 CA216897122 |
496 | V>I | No |
ClinGen Ensembl |
|
|
rs773091273 CA378916786 |
497 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs773091273 CA5777184 |
497 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA378916763 rs1165180391 |
499 | V>L | No |
ClinGen TOPMed |
|
|
CA378916750 rs1160882020 |
501 | H>Y | No |
ClinGen gnomAD |
|
|
CA378916744 rs768206474 |
502 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777157 rs779752799 |
502 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA5777159 rs768206474 |
502 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172720468 CA378916726 |
504 | R>H | Variant assessed as Somatic; 7.634e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769507915 CA216896959 |
507 | R>P | No |
ClinGen Ensembl |
|
| TCGA novel | 507 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5777156 rs755800261 |
508 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 509 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 509 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465205857 CA378916698 |
510 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs202078701 CA5777154 |
512 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1324100598 CA378916680 |
512 | G>V | No |
ClinGen TOPMed |
|
|
rs1463665120 CA378916678 |
513 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA378916679 rs1463665120 |
513 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1343436599 CA378916661 |
515 | P>L | No |
ClinGen gnomAD |
|
|
CA378916659 rs1229834613 |
516 | R>Q | No |
ClinGen gnomAD |
|
|
rs777968246 CA5777150 |
516 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs758616510 CA378916656 |
517 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs758616510 CA5777149 |
517 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA378916644 rs1233056060 |
518 | P>R | No |
ClinGen TOPMed |
|
|
CA378916647 rs1319029076 |
518 | P>S | No |
ClinGen gnomAD |
|
|
rs765320102 CA5777147 |
519 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1373508060 CA378916609 |
523 | W>* | No |
ClinGen gnomAD |
|
|
rs759810168 CA5777146 |
523 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA5777144 rs767370571 |
524 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777145 rs750147011 |
524 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550551772 CA5777143 |
525 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5777142 rs530624536 |
525 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368106583 CA5777141 |
526 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1212286546 CA378916589 |
527 | Y>C | No |
ClinGen gnomAD |
|
|
CA378916564 rs1279762875 |
531 | P>A | No |
ClinGen gnomAD |
|
|
rs1206475737 CA378916561 |
531 | P>L | No |
ClinGen gnomAD |
|
|
CA378916566 rs1279762875 |
531 | P>S | No |
ClinGen gnomAD |
|
|
CA378916557 rs1475040565 |
532 | V>D | No |
ClinGen TOPMed |
|
|
rs1475040565 CA378916555 |
532 | V>G | No |
ClinGen TOPMed |
|
|
rs1189765080 CA378916559 |
532 | V>L | No |
ClinGen TOPMed |
|
|
rs929918233 CA378916506 |
539 | D>E | No |
ClinGen gnomAD |
|
|
rs769288851 CA5777138 |
539 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs775066944 CA378916511 |
539 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775066944 CA5777139 |
539 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378916510 rs775066944 |
539 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150408702 CA5777137 |
540 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs887833056 CA216896760 CA378916467 |
544 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs781386541 CA5777136 |
545 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459065674 CA378916451 |
545 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA378916425 rs1158482377 |
548 | Y>* | No |
ClinGen gnomAD |
|
|
rs759143459 CA5777101 |
549 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1434204193 CA378916423 |
549 | G>S | No |
ClinGen gnomAD |
|
|
CA5777099 rs766063109 |
551 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1024860653 CA216896535 |
552 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 555 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486678403 CA378916371 |
557 | A>S | No |
ClinGen gnomAD |
|
|
CA5777096 rs772616181 |
559 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA378916351 rs1452011119 |
560 | L>P | No |
ClinGen TOPMed |
|
|
rs774993188 CA378916346 |
561 | A>E | No |
ClinGen ExAC gnomAD |
|
|
COSM3782624 rs774993188 CA5777094 |
561 | A>V | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1298140032 CA378916339 |
562 | P>L | No |
ClinGen gnomAD |
|
|
rs1466646438 CA378916327 |
565 | A>T | No |
ClinGen gnomAD |
|
|
CA5777089 rs746134750 |
565 | A>V | No |
ClinGen ExAC |
|
|
CA5777088 rs558198707 |
566 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378916305 rs1172294980 |
568 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5777087 rs758272636 |
569 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs752573412 CA5777086 |
570 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5777085 rs765155317 |
572 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1259256588 CA378916283 |
572 | E>K | No |
ClinGen gnomAD |
|
|
rs761622841 CA5777084 |
573 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761622841 CA378916272 |
573 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378916269 rs753340054 |
574 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378916270 rs753340054 |
574 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208623251 COSM2153157 CA378916268 |
574 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5777083 rs753340054 |
574 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777081 rs566257561 |
575 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5777082 rs201916520 |
575 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773045960 CA5777080 |
578 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs767977844 CA5777079 |
580 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1207995794 CA378916225 |
581 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 582 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5777076 rs769161917 |
584 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs749794884 CA378916195 |
585 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777075 rs749794884 |
585 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5777074 rs775520567 |
586 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1460813668 CA378916190 |
586 | R>H | No |
ClinGen gnomAD |
|
|
CA5777073 rs769913871 |
587 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 587 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358144959 CA378916178 |
589 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 590 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs929873102 CA216896431 |
592 | A>T | No |
ClinGen Ensembl |
|
|
rs555825323 CA216896428 |
592 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA378916150 rs1259001523 |
593 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1301585720 CA378916144 |
594 | D>Y | No |
ClinGen gnomAD |
|
|
rs746078989 CA5777072 |
595 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216896414 rs997385451 |
595 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA378916138 rs746078989 |
595 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777041 rs763377221 |
598 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA378916101 rs1564902816 |
599 | L>Q | No |
ClinGen Ensembl |
|
|
CA378916102 rs1554927771 |
599 | L>V | No |
ClinGen Ensembl |
|
|
rs116412926 CA5777037 |
603 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5777038 rs373270640 |
603 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5777036 rs114405390 |
604 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5777035 rs776650801 |
604 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs760927187 CA5777034 |
605 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378916063 rs1286350403 |
606 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA378916058 rs1564902762 |
606 | G>V | No |
ClinGen Ensembl |
|
|
CA378916049 rs1203491335 |
608 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs199708219 CA5777032 |
609 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378916036 rs1590408533 |
610 | V>G | No |
ClinGen Ensembl |
|
|
CA5777029 rs369067037 |
611 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378916026 rs1167766057 |
612 | A>D | No |
ClinGen TOPMed |
|
|
CA5777027 rs745846198 |
614 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs780735780 CA5777026 |
615 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA378915999 rs1590408463 |
616 | V>G | No |
ClinGen Ensembl |
|
|
CA5777025 rs756778363 |
617 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1383671850 CA378915978 |
619 | F>L | No |
ClinGen gnomAD |
|
|
rs1042048618 CA216895717 |
620 | T>I | No |
ClinGen TOPMed |
|
|
rs373573370 CA5777023 |
623 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1385211696 CA378915946 |
624 | I>T | No |
ClinGen TOPMed |
|
|
CA5777022 rs201747938 |
625 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5777021 rs753011744 |
626 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs765622452 CA378915936 |
626 | R>L | No |
ClinGen ExAC TOPMed |
|
|
CA5777020 COSM3687292 rs765622452 |
626 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
rs754350572 CA5777018 |
629 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs755446643 CA5777019 |
629 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1564902594 CA378915912 |
630 | K>R | No |
ClinGen Ensembl |
|
|
CA5777017 rs767484733 |
632 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777016 rs759531921 |
632 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA378915896 rs1279491784 |
633 | Y>H | No |
ClinGen gnomAD |
|
|
CA378915878 rs767787117 |
635 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767787117 CA5777014 |
635 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5777013 rs762143472 |
636 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs745789457 CA5777010 |
638 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs770908218 CA5777008 |
640 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5777007 rs746447871 |
641 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1214205076 CA378915832 |
642 | S>C | No |
ClinGen TOPMed |
|
|
CA378915826 rs1172740439 COSM926867 |
643 | T>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs910383499 CA216895637 |
645 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA378915791 rs1457004133 |
647 | L>I | No |
ClinGen gnomAD |
|
|
rs772566665 CA5776989 |
648 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315110372 CA378915774 |
649 | G>V | No |
ClinGen TOPMed |
|
|
rs747785580 CA5776987 |
650 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA5776985 rs768300305 |
651 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 653 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282966406 CA378915742 |
654 | S>N | No |
ClinGen TOPMed |
|
|
rs1375455585 CA378915727 |
656 | S>F | No |
ClinGen gnomAD |
|
|
COSM926866 CA5776983 rs780486405 |
657 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs374660946 CA5776981 |
659 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5776980 rs781413334 |
660 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5776979 COSM1475417 rs757481877 |
663 | F>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA597018515 rs1421339915 |
665 | D>A | No |
ClinGen gnomAD |
|
|
rs1224449598 CA378879346 |
665 | D>G | No |
ClinGen TOPMed |
|
|
rs1159932557 CA378879350 |
665 | D>Y | No |
ClinGen gnomAD |
|
|
CA378879338 rs1564901513 |
666 | P>L | No |
ClinGen Ensembl |
|
|
rs1564901513 CA378879337 |
666 | P>R | No |
ClinGen Ensembl |
|
|
rs751696607 CA5776978 |
666 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754169194 COSM1475416 CA216895012 |
667 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA378879239 rs1215908946 |
675 | V>G | No |
ClinGen gnomAD |
|
|
CA5776974 rs367921445 |
675 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760506226 CA5776973 |
676 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA216894946 rs773192364 |
678 | C>W | No |
ClinGen ExAC TOPMed |
|
|
CA378879148 rs1258499988 |
682 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5776955 rs753013286 |
684 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5776954 rs373327405 |
684 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5776953 rs373327405 |
684 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs767383937 CA5776951 |
686 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA378879098 rs1395482097 |
686 | P>S | No |
ClinGen gnomAD |
|
|
CA216894887 rs925026417 |
687 | P>S | No |
ClinGen TOPMed |
|
|
rs762502699 CA5776947 |
688 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1197942333 | 688 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM926865 rs377737999 CA5776948 |
688 | D>N | Variant assessed as Somatic; 0.0 impact. skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA |
|
rs1157136562 CA378879040 |
690 | N>S | No |
ClinGen gnomAD |
|
|
rs769338224 CA378878972 |
693 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5776945 rs769338224 |
693 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777159075 CA5776943 |
694 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs771526322 CA5776942 |
696 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA378878825 rs1564901074 |
697 | F>L | No |
ClinGen Ensembl |
|
|
rs1374039340 CA378878836 |
697 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs747558548 CA5776941 |
698 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1192318060 CA378878764 |
701 | I>M | No |
ClinGen gnomAD |
|
|
rs758562981 CA5776939 |
702 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5776937 rs116108490 |
702 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs116108490 CA5776938 |
702 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA216894846 rs116108490 |
702 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755167156 CA5776936 |
704 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5776935 rs750166102 |
704 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5776933 rs757150834 |
706 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5776932 rs751543247 |
707 | I>T | No |
ClinGen ExAC |
|
|
rs1209038769 CA378878594 |
709 | F>L | No |
ClinGen gnomAD |
|
|
CA378878417 rs1214552445 |
711 | H>D | No |
ClinGen gnomAD |
|
|
CA378878395 rs1271290250 |
712 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5776898 rs569363672 |
715 | C>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1281750774 CA378878344 |
715 | C>R | No |
ClinGen gnomAD |
|
|
CA378878322 rs1296056048 |
715 | C>Y | No |
ClinGen TOPMed |
|
|
CA378878311 rs1357142386 |
716 | I>V | No |
ClinGen TOPMed |
|
|
rs1304632530 CA378878281 |
717 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 717 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5776896 rs758325684 |
720 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378878198 rs1188576464 |
720 | A>V | No |
ClinGen gnomAD |
|
|
rs1160207501 CA378878189 |
721 | A>G | No |
ClinGen gnomAD |
|
|
rs753401969 CA5776894 |
721 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753401969 CA5776893 |
721 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5776892 rs753401969 |
721 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160207501 CA378878188 |
721 | A>V | No |
ClinGen gnomAD |
|
|
CA378878171 rs760425754 |
722 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760425754 CA5776890 |
722 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5776888 rs149064552 |
724 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378878078 rs1422128975 |
726 | D>G | No |
ClinGen TOPMed |
|
|
CA5776886 rs768715555 |
726 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768715555 CA5776885 |
726 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378877393 rs1203833981 |
728 | P>L | No |
ClinGen gnomAD |
|
|
CA5776882 rs769968460 |
729 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs144928396 CA5776881 |
730 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378877374 rs1281433477 |
730 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA378877376 rs1281433477 |
730 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA378877332 rs1157119274 |
731 | V>G | No |
ClinGen TOPMed |
|
|
rs974562332 CA216894504 |
734 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1319725387 CA378877245 |
734 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5776878 rs748114605 |
734 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5776877 rs778925997 |
735 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590403298 CA378877187 |
738 | V>G | No |
ClinGen Ensembl |
|
|
CA5776875 rs748758240 |
738 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1375521849 CA378877156 |
739 | K>T | No |
ClinGen TOPMed |
|
|
rs779741229 CA5776874 |
742 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5776871 rs371258677 |
744 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378877054 rs757626143 |
744 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5776870 rs757626143 |
744 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371258677 CA5776872 |
744 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751971062 CA5776869 |
746 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 746 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 747 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201080525 CA378876886 |
749 | H>Q | No |
ClinGen TOPMed |
|
|
CA216894447 rs868173729 |
750 | G>E | No |
ClinGen Ensembl |
|
|
CA5776868 rs764537966 |
751 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763486965 CA5776867 |
754 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775520594 CA5776866 |
756 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1323228651 CA378876718 |
757 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1323228651 CA378876720 |
757 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA378876727 rs1176975255 |
757 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 759 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761382318 | 759 | A>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5776863 rs1357225992 |
759 | A>V | No |
ClinGen TOPMed |
|
|
CA5776862 rs765350358 |
761 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759791516 CA5776861 |
762 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378876649 rs1271384417 COSM1298026 |
762 | R>W | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5776859 rs149886763 |
763 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA378876615 rs1416606666 |
764 | P>L | No |
ClinGen gnomAD |
|
|
rs201268554 CA5776858 |
765 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139070762 CA5776857 |
766 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378876601 rs146286449 |
767 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5776856 rs146286449 |
767 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378876597 rs1421954671 |
767 | A>V | No |
ClinGen gnomAD |
|
|
CA5776854 rs779685768 |
768 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1418734048 CA378876591 |
768 | H>Q | No |
ClinGen gnomAD |
|
|
CA378876581 rs367848202 |
769 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5776853 rs367848202 |
769 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378876575 rs1248655902 |
770 | T>P | No |
ClinGen TOPMed |
|
|
CA378876573 rs1248655902 |
770 | T>S | No |
ClinGen TOPMed |
|
|
rs756959284 CA5776850 |
772 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1192622518 CA378876535 |
773 | S>Y | No |
ClinGen gnomAD |
|
|
CA378876476 rs1190831897 |
777 | A>D | No |
ClinGen TOPMed |
|
|
CA378876484 rs1488895850 |
777 | A>T | No |
ClinGen TOPMed |
|
|
CA5776849 rs751885094 |
779 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA378876431 rs1564899955 |
781 | D>N | No |
ClinGen Ensembl |
|
|
CA378876412 rs139951213 CA378876414 |
782 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139951213 CA5776847 |
782 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378876403 rs1293448975 |
783 | V>Q | No |
ClinGen gnomAD |
No associated diseases with A1A5B4
No regional properties for A1A5B4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for A1A5B4 | |||
Functions
2 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| chloride channel activity | Enables the facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| intracellular calcium activated chloride channel activity | Enables the transmembrane transfer of chloride by a channel that opens in response to stimulus by a calcium ion or ions. Transport by a channel involves catalysis of facilitated diffusion of a solute (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel, without evidence for a carrier-mediated mechanism. |
| phospholipid scramblase activity | Catalysis of the movement of phospholipids from one membrane bilayer leaflet to the other, by an ATP-independent mechanism. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium activated galactosylceramide scrambling | The movement of a population of galactosylceramide molecules from one leaflet of the plasma membrane bilayer to the opposite leaflet as a result of a calcium stimulus. |
| calcium activated phosphatidylcholine scrambling | The movement of a population of phosphatidylcholine molecules from one leaflet of the plasma membrane bilayer to the opposite leaflet as a result of a calcium stimulus. |
| calcium activated phosphatidylserine scrambling | The movement of a population of phosphatidylserine molecules from one leaflet of the plasma membrane bilayer to the opposite leaflet as a result of a calcium stimulus. |
| chloride transmembrane transport | The process in which chloride is transported across a membrane. |
| chloride transport | The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| establishment of localization in cell | Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. |
| ion transmembrane transport | A process in which an ion is transported across a membrane. |
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| negative regulation of intracellular calcium activated chloride channel activity | Any process that stops, prevents or reduces the frequency, rate or extent of intracellular calcium activated chloride channel activity. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9NW15 | ANO10 | Anoctamin-10 | Homo sapiens (Human) | PR |
| Q75V66 | ANO5 | Anoctamin-5 | Homo sapiens (Human) | PR |
| Q9NQ90 | ANO2 | Anoctamin-2 | Homo sapiens (Human) | PR |
| Q6IWH7 | ANO7 | Anoctamin-7 | Homo sapiens (Human) | PR |
| A2AHL1 | Ano3 | Anoctamin-3 | Mus musculus (Mouse) | PR |
| Q8CFW1 | Ano2 | Anoctamin-2 | Mus musculus (Mouse) | PR |
| Q14AT5 | Ano7 | Anoctamin-7 | Mus musculus (Mouse) | PR |
| Q6IFT6 | Ano7 | Anoctamin-7 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQGEESLRIL | VEPEGDSFPL | MEISTCETEA | SEQWDYVLVA | QRHTQRDPRQ | ARQQQFLEEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RRKGFHIKVI | RDQKQVFFGI | RADNSVFGLY | RTLLLEPEGP | APHAELAAPT | TIPVTTSLRI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RIVNFVVMNN | KTSAGETFED | LMKDGVFEAR | FPLHKGEGRL | KKTWARWRHM | FREQPVDEIR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NYFGEKVALY | FVWLGWYTYM | LVPAALTGLL | VFLSGFSLFE | ASQISKEICE | AHDILMCPLG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DHSRRYQRLS | ETCTFAKLTH | LFDNDGTVVF | AIFMALWATV | FLEIWKRQRA | RVVLHWDLYV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| WDEEQEEMAL | QLINCPDYKL | RPYQHSYLRS | TVILVLTLLM | ICLMIGMAHV | LVVYRVLASA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LFSSSAVPFL | EEQVTTAVVV | TGALVHYVTI | IIMTKINRCV | ALKLCDFEMP | RTFSERESRF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TIRFFTLQFF | THFSSLIYIA | FILGRINGHP | GKSTRLAGLW | KLEECHASGC | MMDLFVQMAI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IMGLKQTLSN | CVEYLVPWVT | HKCRSLRASE | SGHLPRDPEL | RDWRRNYLLN | PVNTFSLFDE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FMEMMIQYGF | TTIFVAAFPL | APLLALFSNL | VEIRLDAIKM | VWLQRRLVPR | KAKDIGTWLQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VLETIGVLAV | IANGMVIAFT | SEFIPRVVYK | YRYSPCLKEG | NSTVDCLKGY | VNHSLSVFHT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KDFQDPDGIE | GSENVTLCRY | RDYRNPPDYN | FSEQFWFLLA | IRLAFVILFE | HVALCIKLIA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| AWFVPDIPQS | VKNKVLEVKY | QRLREKMWHG | RQRLGGVGAG | SRPPMPAHPT | PASIFSARST |
| DV |