Q9H159
PR
Gene name |
CDH19 (CDH7L2, UNQ478/PRO941) |
Protein name |
Cadherin-19 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:28513 |
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 Q9H159
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H159-F1 | Predicted | AlphaFoldDB |
792 variants for Q9H159
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs757657626 CA8992301 |
4 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA8992300 rs747403524 |
5 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA8992299 rs368840152 |
8 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs754638138 COSM989654 CA8992298 |
8 | R>H | Variant assessed as Somatic; 0.0 impact. liver endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
COSM989653 rs1489049534 CA402734605 |
10 | M>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA402734607 rs1211986089 |
10 | M>T | No |
ClinGen gnomAD |
|
|
rs80135198 CA402734596 |
11 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8992294 rs750370068 |
14 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755628750 CA8992295 |
14 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 17 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767524131 CA8992293 |
18 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116708360 CA8992292 |
19 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA302313180 COSM989652 CA8992290 rs375047034 |
21 | G>R | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 22 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243325511 CA402734536 |
22 | A>T | No |
ClinGen TOPMed |
|
|
rs113837639 CA8992289 |
25 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402734503 rs79502505 |
27 | Q>E | No |
ClinGen gnomAD |
|
|
rs1469739865 CA402734497 |
27 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs79502505 CA302313179 |
27 | Q>K | No |
ClinGen gnomAD |
|
|
CA8992286 rs144603551 |
28 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs969331417 CA302313178 |
29 | K>E | No |
ClinGen TOPMed |
|
|
COSM1200439 rs1568204104 CA402734485 |
29 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1405546201 CA402734471 |
31 | V>G | No |
ClinGen TOPMed |
|
|
rs1568204089 CA402734475 |
31 | V>I | No |
ClinGen Ensembl |
|
|
CA8992282 rs776530686 |
32 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8992281 rs771449311 |
33 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 34 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8992278 rs778178307 |
36 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA402734443 rs371688912 |
36 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371688912 CA8992277 |
36 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1349340408 CA402734431 |
38 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 38 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402734422 rs1192964624 |
39 | L>F | No |
ClinGen gnomAD |
|
|
rs1290920777 CA402734425 |
39 | L>S | No |
ClinGen TOPMed |
|
|
rs748943804 CA8992276 |
40 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA8992275 rs779727256 |
41 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8992274 rs749974619 |
42 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1302372093 CA402734405 |
42 | K>R | No |
ClinGen gnomAD |
|
|
CA8992272 rs780796077 |
43 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8992271 rs757269608 |
43 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780796077 CA402734401 |
43 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 44 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751534502 CA302313177 |
45 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA8992270 rs751534502 |
45 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA8992269 rs764035298 |
46 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA402734377 rs1294725731 |
47 | W>* | No |
ClinGen TOPMed |
|
|
rs149175877 CA8992267 |
47 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8992266 rs765526940 |
48 | N>D | No |
ClinGen ExAC gnomAD |
|
|
COSM1523503 CA402734367 CA8992265 rs759627014 |
48 | N>K | Variant assessed as Somatic; 0.0 impact. lung [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8992264 rs776785160 |
49 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
COSM1680410 rs761230023 CA8992262 |
50 | F>C | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs770930062 CA8992263 |
50 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 51 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8992261 rs772466653 |
52 | V>I | No |
ClinGen ExAC |
|
|
CA8992259 rs772466653 |
52 | V>L | No |
ClinGen ExAC |
|
|
CA8992257 rs779100778 |
56 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1348473615 CA402734318 |
56 | M>V | No |
ClinGen gnomAD |
|
|
rs538411423 CA8992256 COSM1130051 |
58 | T>M | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs745449305 CA8992255 |
60 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs912401666 CA302313176 |
61 | H>N | No |
ClinGen Ensembl |
|
|
rs755899214 CA302313175 |
63 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756810638 CA8992253 |
64 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 65 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324719612 CA402734252 |
65 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 65 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311545114 CA402734234 |
67 | R>G | No |
ClinGen gnomAD |
|
|
rs374540595 CA8992236 |
67 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1305208782 CA402734220 |
69 | D>Y | No |
ClinGen TOPMed |
|
|
CA402734209 rs1311644026 |
70 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs145183549 CA8992235 |
71 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402734198 rs1568202362 |
72 | N>S | No |
ClinGen Ensembl |
|
|
CA8992234 rs777367814 |
72 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs555527146 CA8992233 |
73 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139577289 CA8992232 |
74 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1265771255 CA402734177 |
75 | N>S | No |
ClinGen TOPMed |
|
|
rs1415920642 CA402734163 |
77 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8992229 rs754707990 |
79 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402734147 rs1203553787 |
79 | Y>C | No |
ClinGen gnomAD |
|
|
rs1233434772 CA402734150 |
79 | Y>H | No |
ClinGen gnomAD |
|
|
rs754100175 CA8992228 |
82 | L>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 83 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599023091 CA402734115 |
84 | A>G | No |
ClinGen Ensembl |
|
|
CA302312807 rs879250332 |
84 | A>T | No |
ClinGen Ensembl |
|
|
CA402734113 rs1334204698 |
85 | G>R | No |
ClinGen gnomAD |
|
|
CA402734108 rs1291484021 |
85 | G>V | No |
ClinGen gnomAD |
|
|
rs766621628 CA302312806 |
86 | A>S | No |
ClinGen ExAC |
|
|
CA8992227 rs766621628 |
86 | A>T | No |
ClinGen ExAC |
|
|
rs1374669527 CA402734098 |
87 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8992225 rs750518933 |
88 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA402734093 rs1351995752 |
88 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1351995752 CA402734095 |
88 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1351995752 CA402734094 |
88 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs767432807 CA8992224 COSM989649 |
89 | T>A | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8992223 RCV000961551 rs114375304 |
89 | T>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs370770702 CA8992221 |
92 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774703578 CA8992222 |
92 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA402734058 rs1454141471 |
94 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 95 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8992220 rs763376583 |
95 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 95 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8992219 rs775955407 |
95 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770728887 CA8992218 |
96 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA302312805 rs754653167 |
97 | G>D | No |
ClinGen Ensembl |
|
|
CA402734039 rs1388220088 |
97 | G>R | No |
ClinGen TOPMed |
|
|
rs772853114 CA8992216 |
98 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA402734035 rs1248279224 |
98 | D>N | No |
ClinGen gnomAD |
|
|
CA402734022 rs1331141455 |
99 | I>M | No |
ClinGen Ensembl |
|
|
CA402734028 rs1468189935 |
99 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1369676272 CA402734020 |
100 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 101 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288826427 CA402734003 |
102 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 103 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402733982 rs1271572454 |
105 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1215531193 CA402733970 |
107 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 107 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469190728 CA402733960 |
108 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1317594506 CA402733955 |
109 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1222582188 CA402733947 |
110 | R>* | No |
ClinGen gnomAD |
|
|
rs1230780998 CA402733945 |
110 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778685863 CA8992213 |
112 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs778685863 CA402733933 |
112 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA402733926 rs1194565078 |
113 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 114 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8992212 rs768599786 COSM175203 |
115 | L>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA402733905 rs1440691844 |
116 | R>I | No |
ClinGen gnomAD |
|
|
CA402733902 rs749105539 |
117 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA8992211 rs749105539 |
117 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs139392316 CA402733897 |
118 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8992210 rs139392316 |
118 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs533476523 CA8992209 |
118 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA302312804 rs570335688 |
119 | V>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1158242401 CA402733880 |
120 | I>M | No |
ClinGen gnomAD |
|
|
CA8992208 rs750643089 |
122 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA302312803 rs141432968 |
123 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs757258504 CA8992206 |
124 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346261951 CA402733852 |
125 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs764537335 CA8992204 |
125 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs753124384 CA402733823 |
130 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550999657 CA8992201 |
130 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753124384 CA8992202 |
130 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753124384 CA8992203 |
130 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201303328 CA8992199 |
131 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368444797 CA402733815 |
131 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA302312802 rs368444797 |
131 | E>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1346185610 CA402733791 |
135 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA402733785 rs1599022826 |
136 | I>L | No |
ClinGen Ensembl |
|
|
CA302312801 rs374277228 |
136 | I>T | No |
ClinGen ESP TOPMed |
|
|
rs761261662 CA8992197 |
137 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs371102409 CA8992196 |
138 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 138 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768597117 CA8992195 |
139 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402733763 rs768597117 COSM989646 |
139 | S>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA402733753 rs1467148087 |
141 | I>V | No |
ClinGen TOPMed |
|
|
CA302312800 rs936027431 |
142 | N>H | No |
ClinGen TOPMed |
|
|
CA8992193 rs528266054 |
142 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8992191 rs188355455 |
145 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA302312799 rs188355455 |
145 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1599022765 CA402733717 |
146 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 146 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 147 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 148 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402733687 rs1172748817 |
150 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8992189 rs146410943 |
151 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA302312797 rs945831615 COSM989643 |
152 | P>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs919959612 CA302312796 COSM474006 |
153 | Y>* | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA8992188 rs145260504 |
155 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 155 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141147518 CA8992187 |
156 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372657778 CA8992186 |
157 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1484873802 CA402733637 |
158 | P>L | No |
ClinGen gnomAD |
|
|
CA302312795 rs765956502 |
158 | P>S | No |
ClinGen Ensembl |
|
|
CA8992185 rs574112557 |
159 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8992184 rs192921997 |
160 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192921997 CA402733628 |
160 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 163 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759949334 CA8992183 COSM3952946 |
164 | G>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759949334 CA402733601 |
164 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1358464890 CA402733580 |
165 | T>I | No |
ClinGen TOPMed |
|
|
CA8992156 rs762424101 |
167 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs148180409 CA8992157 COSM4140146 |
167 | V>I | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs913046986 CA402733565 |
168 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs913046986 CA302311226 |
168 | I>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 169 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1036825127 CA302311225 |
171 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs765184754 CA402733545 |
171 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs765184754 CA8992154 |
171 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA402733541 rs1212515192 |
172 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1357235516 CA402733544 |
172 | A>T | No |
ClinGen gnomAD |
|
|
CA8992153 rs759463010 |
173 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs941185847 CA402733530 |
174 | D>H | No |
ClinGen gnomAD |
|
|
rs941185847 CA302311224 |
174 | D>N | No |
ClinGen gnomAD |
|
|
COSM1247818 CA402733519 rs1335142052 |
175 | A>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA402733510 rs1442907087 |
177 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA402733505 rs1371999981 |
177 | D>V | No |
ClinGen gnomAD |
|
|
CA402733502 rs1240111720 |
178 | P>A | No |
ClinGen TOPMed |
|
|
CA402733479 rs1387257048 |
181 | G>D | No |
ClinGen gnomAD |
|
|
CA8992149 rs773547041 |
183 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 184 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453631767 CA402733453 |
185 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs138493909 CA8992148 |
185 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138493909 CA402733452 |
185 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402733442 rs1253167944 |
187 | L>F | No |
ClinGen gnomAD |
|
|
CA8992145 rs755443017 |
188 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 189 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8992143 rs199547788 |
191 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8992141 rs751206803 |
193 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1283880904 CA402733403 |
193 | G>S | No |
ClinGen gnomAD |
|
|
CA8992139 rs758001032 |
197 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 197 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 198 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402733361 rs1319037279 |
199 | V>F | No |
ClinGen gnomAD |
|
|
rs1383430687 CA402733357 |
200 | E>K | No |
ClinGen gnomAD |
|
|
rs1406883388 CA402733348 |
201 | P>A | No |
ClinGen TOPMed |
|
|
CA8992138 rs752220537 |
201 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA402733343 rs1176082323 |
202 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 203 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8992136 rs141895623 |
203 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402733334 rs1172209556 |
203 | T>I | No |
ClinGen gnomAD |
|
|
rs538014738 CA302311222 |
204 | G>R | No |
ClinGen 1000Genomes |
|
|
CA402733309 rs1446780896 |
206 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 207 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402733296 rs766362852 |
208 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8992113 rs369936436 |
208 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8992114 rs766362852 |
208 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 210 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402733276 rs1295181497 |
211 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs376655558 CA8992111 |
212 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA302310967 rs951439232 |
212 | M>T | No |
ClinGen Ensembl |
|
|
rs762182048 CA402733260 |
213 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs762182048 CA8992110 |
213 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 214 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282949552 CA402733248 |
215 | E>* | No |
ClinGen gnomAD |
|
|
CA8992108 rs1555688155 |
216 | L>Q | No |
ClinGen Ensembl |
|
|
rs974127468 CA302310966 |
217 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs774689734 CA8992107 |
218 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8992106 rs768655385 |
219 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763120838 CA8992105 |
222 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs952075449 CA302310965 |
227 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8992102 rs746310512 |
228 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs972181416 CA302310964 |
229 | M>R | No |
ClinGen TOPMed |
|
|
CA8992101 rs781606692 |
229 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs771273522 CA8992099 |
230 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 231 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568193469 CA402733137 |
231 | G>D | No |
ClinGen Ensembl |
|
|
rs1568193466 CA402733132 |
232 | Q>* | No |
ClinGen Ensembl |
|
|
rs371405480 CA8992098 |
233 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1275356303 CA402733119 |
234 | G>E | No |
ClinGen gnomAD |
|
|
rs778598326 CA8992097 |
234 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402733113 rs754546870 |
235 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402733112 rs754546870 |
235 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754546870 CA8992096 |
235 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8992094 rs779363095 |
237 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8992093 rs139340924 |
239 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1374742656 CA402733089 |
239 | T>I | No |
ClinGen gnomAD |
|
|
CA8992092 rs750370896 |
240 | T>R | No |
ClinGen ExAC |
|
|
CA402733080 rs374720765 |
241 | S>N | No |
ClinGen ESP TOPMed |
|
|
CA302310963 rs374720765 |
241 | S>T | No |
ClinGen ESP TOPMed |
|
|
CA8992090 rs761666898 |
242 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 242 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866959749 CA302310962 |
243 | L>* | No |
ClinGen Ensembl |
|
|
rs1008811981 CA302310961 CA402733067 |
243 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA8992089 rs751356322 |
246 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1399047960 CA402733036 |
248 | D>G | No |
ClinGen TOPMed |
|
|
rs34269468 CA302310959 |
251 | D>A | No |
ClinGen Ensembl |
|
|
CA8992087 rs763032146 |
252 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA8992085 rs765230191 |
254 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777100996 CA8992082 |
255 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8992084 rs760095635 |
255 | I>V | No |
ClinGen ExAC |
|
| TCGA novel | 258 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8992080 rs747405592 |
258 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772310024 CA8992059 |
259 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772310024 CA8992060 |
259 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199721611 CA8992058 |
260 | L>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774971460 CA8992057 |
262 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs891270478 CA302310272 |
262 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA402732921 COSM1630652 rs1277438071 |
263 | L>F | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA402732919 rs1398032889 |
264 | T>A | No |
ClinGen gnomAD |
|
|
CA402732916 rs769528714 |
264 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 264 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8992056 rs769528714 |
264 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8992055 rs573411607 |
265 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs576081990 CA8992054 |
266 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1423049392 CA402732899 |
267 | E>D | No |
ClinGen gnomAD |
|
|
CA402732901 rs1429151748 |
267 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA402732897 rs1191650682 |
268 | S>P | No |
ClinGen gnomAD |
|
|
rs746919830 CA8992052 |
268 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1630651 rs1482488358 CA402732883 |
270 | P>H | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs777685635 CA8992051 |
270 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA402732880 rs970744296 |
271 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA302310271 rs970744296 |
271 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA302310270 rs753005271 |
275 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8992048 rs765475451 |
275 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8992049 rs753005271 |
275 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 276 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402732838 rs1234063013 |
278 | I>N | No |
ClinGen TOPMed |
|
| TCGA novel | 279 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 279 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8992047 rs755145928 |
279 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs753919071 CA8992046 |
280 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA302310269 rs932885468 |
280 | A>V | No |
ClinGen TOPMed |
|
|
rs1208409246 CA402732820 |
281 | Y>C | No |
ClinGen TOPMed |
|
|
rs150205416 CA8992045 |
281 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 281 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs982880770 CA302310268 |
282 | D>E | No |
ClinGen Ensembl |
|
|
rs140940676 CA8992044 |
284 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8992043 rs750871203 |
285 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402732789 rs1599000101 |
285 | I>R | No |
ClinGen Ensembl |
|
|
CA402732793 rs1399903865 |
285 | I>V | No |
ClinGen gnomAD |
|
|
CA402732779 rs1419136702 |
287 | E>G | No |
ClinGen gnomAD |
|
|
CA8992042 rs767962039 |
287 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA402732773 rs1422390869 |
288 | N>Y | No |
ClinGen gnomAD |
|
|
rs1253059773 CA402732767 |
289 | A>T | No |
ClinGen gnomAD |
|
|
CA402732757 rs1178185340 |
290 | E>G | No |
ClinGen gnomAD |
|
|
rs1185553868 CA402732748 |
291 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs774725385 CA8992039 |
291 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA402732749 rs774725385 |
291 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA402732743 rs1196141695 |
292 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs769580349 CA8992038 |
294 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769580349 CA402732729 |
294 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402732715 rs1466912983 |
296 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs776351506 CA8992036 |
297 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA402732695 rs1394968637 |
298 | D>E | No |
ClinGen TOPMed |
|
|
rs564590344 CA302310267 |
298 | D>G | No |
ClinGen 1000Genomes |
|
|
rs143721306 CA8992035 |
300 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402732684 rs1319898559 |
300 | S>P | No |
ClinGen gnomAD |
|
|
rs1376349821 CA402732672 |
302 | T>P | No |
ClinGen gnomAD |
|
|
CA302310266 rs924637299 |
303 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402732647 rs1417928990 |
305 | I>S | No |
ClinGen gnomAD |
|
|
rs772008076 CA8992032 |
305 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747918810 CA8992031 |
307 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs781464637 CA8992030 |
308 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs763563142 | 309 | H>L | No |
ExAC TOPMed |
|
|
rs1568189393 CA402732626 |
309 | H>N | No |
ClinGen Ensembl |
|
|
CA302310265 rs971481540 |
309 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1441670386 CA402732622 |
309 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA402732624 rs1568189393 |
309 | H>Y | No |
ClinGen Ensembl |
|
|
rs755258718 CA402732618 |
310 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402732614 rs1237131819 |
310 | E>D | No |
ClinGen gnomAD |
|
|
CA8992028 rs755258718 |
310 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8992027 rs754046741 |
311 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8992026 rs780154990 |
312 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA8992025 rs756114608 |
312 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 313 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM564581 rs750472640 CA8992024 |
313 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8992022 rs762319450 |
314 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8992023 rs767929716 |
314 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751973754 CA402732590 |
315 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs764552828 CA8992020 |
315 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs751973754 CA8992021 |
315 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1307297990 CA402732585 |
316 | V>L | No |
ClinGen gnomAD |
|
|
CA302310264 rs890817034 |
317 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1041425776 CA302310263 |
318 | L>F | No |
ClinGen TOPMed gnomAD |
|
| rs1322953086 | 320 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148781203 CA8992005 |
323 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757775093 CA8992004 |
324 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000879729 CA8992003 rs146495985 |
326 | H>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs374382704 CA402732485 COSM474005 |
328 | N>S | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs374382704 CA8992002 |
328 | N>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758808369 CA8992001 |
329 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8991998 rs1033192268 |
331 | G>C | No |
ClinGen TOPMed |
|
|
CA8991996 rs765971339 |
331 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8991997 rs1033192268 |
331 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 332 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402732458 rs1258769898 |
332 | I>T | No |
ClinGen gnomAD |
|
|
CA402732461 rs1341786110 |
332 | I>V | No |
ClinGen gnomAD |
|
|
rs1218159363 CA402732433 |
336 | V>F | No |
ClinGen gnomAD |
|
|
CA8991994 rs772603380 |
338 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8991993 rs761788050 |
339 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761788050 CA8991992 |
339 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402732401 rs1598999282 |
340 | H>Q | No |
ClinGen Ensembl |
|
|
rs768539843 CA8991990 |
340 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8991991 rs774239132 |
340 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1412376962 CA402732400 |
341 | V>I | No |
ClinGen gnomAD |
|
|
CA302310217 rs1047090953 |
343 | E>Q | No |
ClinGen Ensembl |
|
|
rs1398252428 CA402732380 |
344 | Q>K | No |
ClinGen gnomAD |
|
|
rs749101277 CA8991989 |
346 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA402732367 rs1453923953 |
346 | M>L | No |
ClinGen TOPMed |
|
|
CA402732359 rs1598999256 |
347 | K>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 351 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781191590 CA8991986 |
351 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA302310216 rs200746540 |
353 | S>F | No |
ClinGen Ensembl |
|
|
rs1598999215 CA402732307 |
354 | T>I | No |
ClinGen Ensembl |
|
|
rs929994809 CA302310215 |
354 | T>P | No |
ClinGen Ensembl |
|
|
CA402732303 rs1297269502 |
355 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs757340013 CA8991984 |
356 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA402732289 rs1439765144 |
357 | I>N | No |
ClinGen gnomAD |
|
|
CA402732290 rs1439765144 |
357 | I>T | No |
ClinGen gnomAD |
|
|
CA402732292 rs1185209298 |
357 | I>V | No |
ClinGen gnomAD |
|
|
CA8991980 rs753126419 |
360 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs144091143 CA8991981 |
360 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275553299 CA402732257 |
362 | E>K | No |
ClinGen gnomAD |
|
|
rs1383743838 CA402732247 |
363 | D>G | No |
ClinGen TOPMed |
|
|
CA402732250 rs1353160234 |
363 | D>H | No |
ClinGen gnomAD |
|
|
CA8991978 rs755780061 |
364 | V>G | No |
ClinGen ExAC |
|
|
CA402732243 rs1398559853 |
364 | V>I | No |
ClinGen TOPMed |
|
|
rs750066958 CA8991977 |
366 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8991976 rs766974647 |
367 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA402732202 rs1178856446 |
370 | F>S | No |
ClinGen gnomAD |
|
|
CA402732195 rs1439529547 |
371 | L>H | No |
ClinGen TOPMed |
|
|
CA8991974 rs761342561 |
372 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA302310212 rs372501408 |
374 | Y>H | No |
ClinGen Ensembl |
|
|
CA402732171 rs1338072800 |
375 | Y>S | No |
ClinGen TOPMed |
|
| TCGA novel | 376 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764030217 CA8991972 |
378 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA302310211 rs375785755 |
382 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1161240862 CA402732113 |
383 | T>I | No |
ClinGen gnomAD |
|
|
rs1598999046 CA402732116 |
383 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 384 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769621720 CA8991969 |
384 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967814598 CA302310209 |
385 | Q>H | No |
ClinGen Ensembl |
|
|
CA302310207 rs971925477 |
388 | F>L | No |
ClinGen TOPMed |
|
|
rs1178290913 CA402732084 |
388 | F>S | No |
ClinGen gnomAD |
|
|
rs776883723 CA8991967 |
389 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA302310206 rs746129602 |
389 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8991968 rs746129602 |
389 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402732072 rs1222477794 |
390 | G>D | No |
ClinGen gnomAD |
|
|
rs72954429 CA8991965 |
391 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1418140759 CA402732046 |
395 | T>A | No |
ClinGen TOPMed |
|
|
CA8991962 rs748661982 |
396 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs200491463 CA8991961 |
399 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1238937121 CA402732015 |
399 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 399 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755337997 CA8991960 |
400 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402731996 rs149735488 |
402 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8991957 rs149735488 |
402 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA302310205 rs574710718 COSM232008 |
403 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
|
rs1321523236 CA402731983 |
404 | I>M | No |
ClinGen TOPMed gnomAD |
|
| rs752113252 | 405 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8991955 rs756841993 |
405 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs765245279 CA8991930 |
407 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs139472770 CA8991929 |
408 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8991928 rs150502709 |
410 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA402731921 rs1340973556 |
411 | S>R | No |
ClinGen gnomAD |
|
|
rs766274624 CA8991927 |
415 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773535084 CA302309152 |
418 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8991925 rs773535084 |
418 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1357704201 CA402731868 |
419 | N>D | No |
ClinGen gnomAD |
|
|
CA8991923 rs772377503 |
420 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1598989740 CA402731838 |
423 | T>I | No |
ClinGen Ensembl |
|
|
CA8991920 rs761974589 |
425 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA8991917 rs749750028 |
430 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8991916 rs375390615 |
430 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1199915181 CA402731735 |
431 | E>* | No |
ClinGen gnomAD |
|
|
CA8991915 rs770118576 |
431 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs202195701 CA8991914 |
434 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8991913 rs777436122 |
434 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927901745 COSM1523507 CA302309149 |
437 | N>K | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs754053624 CA8991912 |
438 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 441 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1598989661 CA402731587 |
441 | T>P | No |
ClinGen Ensembl |
|
|
COSM139102 rs1377170189 CA402731430 |
444 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 445 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402731416 rs1307150332 |
445 | K>N | No |
ClinGen TOPMed |
|
|
rs1555685921 CA8991909 |
446 | Y>D | No |
ClinGen Ensembl |
|
|
CA402731797 rs747751602 |
447 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1017715560 CA302308585 |
447 | N>S | No |
ClinGen TOPMed |
|
|
CA8991890 rs747751602 |
447 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778545383 CA402731775 |
449 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8991886 rs780160742 |
452 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs748766288 CA8991887 |
452 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756057395 CA8991885 |
453 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542625661 CA8991883 |
455 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1442939300 CA402731709 |
456 | L>Q | No |
ClinGen TOPMed |
|
|
rs1221836523 CA402731693 |
457 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA402731703 rs1255472748 |
457 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA402731678 rs201232711 |
459 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8991879 rs201232711 |
459 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775502254 CA8991878 |
459 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765751379 CA8991877 |
460 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA302308584 rs777047526 CA8991875 |
462 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771188088 CA8991874 |
464 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs149211500 CA8991872 |
465 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA302308583 rs1009449290 |
465 | D>G | No |
ClinGen TOPMed |
|
|
rs761576288 CA8991873 |
465 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402731605 rs1009449290 |
465 | D>V | No |
ClinGen TOPMed |
|
|
CA402731601 rs1409214249 |
466 | H>D | No |
ClinGen TOPMed |
|
|
rs147521124 CA8991869 |
467 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8991866 rs745783102 |
469 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 469 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8991865 rs372093174 |
470 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751332833 CA8991863 |
471 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA402731532 rs1320127327 |
472 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 472 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402731526 rs1259222628 |
473 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA402731527 rs1259222628 |
473 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1218530704 CA402731495 |
477 | Y>F | No |
ClinGen gnomAD |
|
|
rs1218530704 CA402731497 |
477 | Y>S | No |
ClinGen gnomAD |
|
|
CA8991861 rs758561860 |
478 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA402731492 rs758561860 |
478 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8991860 rs752782632 |
480 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA302308581 rs1044838610 |
482 | A>S | No |
ClinGen TOPMed |
|
|
rs1340641739 CA402731460 |
482 | A>V | No |
ClinGen gnomAD |
|
|
CA402731459 rs1335697675 |
483 | G>S | No |
ClinGen gnomAD |
|
|
rs1415456323 CA402731446 |
485 | G>S | No |
ClinGen gnomAD |
|
|
rs373227615 CA402731440 |
486 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373227615 CA8991859 |
486 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8991858 rs367965057 |
486 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753903611 CA8991833 |
487 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1222906114 CA402731398 |
487 | V>L | No |
ClinGen gnomAD |
|
|
CA402731393 rs1219333390 |
488 | I>F | No |
ClinGen gnomAD |
|
|
CA8991832 rs766808234 |
488 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA402731391 rs766808234 |
488 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 489 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761177325 CA8991831 |
490 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA402731380 rs1286305470 |
490 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1461172254 CA402731374 |
491 | I>N | No |
ClinGen gnomAD |
|
|
rs1461172254 CA402731373 |
491 | I>T | No |
ClinGen gnomAD |
|
|
rs985140832 CA302306483 |
491 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8991830 rs750820016 |
492 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437085661 CA402731363 |
493 | A>T | No |
ClinGen gnomAD |
|
|
rs767976019 CA8991829 |
495 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs762739771 CA8991828 |
497 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs377496702 CA8991827 |
498 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759142519 CA8991825 |
499 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs764940938 CA8991826 |
499 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770781440 CA8991823 |
501 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8991821 rs374199828 |
502 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8991822 rs374199828 |
502 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402731295 rs182351851 |
503 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs182351851 CA8991820 |
503 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402731290 rs1214593414 |
504 | H>Y | No |
ClinGen gnomAD |
|
|
CA302306481 rs200911931 |
505 | F>L | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 506 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8991816 rs749331815 |
508 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA402731260 rs749331815 |
508 | N>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 509 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402731248 rs1459062253 |
510 | S>P | No |
ClinGen TOPMed |
|
|
rs750915553 CA8991813 |
511 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs768030829 CA8991812 COSM3720572 |
514 | T>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8991810 rs139196230 |
515 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs757725429 CA8991811 |
515 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs759164223 CA8991808 |
521 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA402731174 rs1469366057 |
521 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs918957876 CA302306479 |
525 | Q>* | No |
ClinGen TOPMed |
|
|
CA302306211 rs1024539391 |
526 | D>G | No |
ClinGen TOPMed |
|
|
CA402731139 rs1478458493 |
526 | D>N | No |
ClinGen gnomAD |
|
|
CA402731121 rs1568170273 |
527 | N>H | No |
ClinGen Ensembl |
|
|
CA402731103 rs1200054986 |
529 | A>G | No |
ClinGen gnomAD |
|
|
CA402731107 rs1240708600 |
529 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 530 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 531 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754648930 CA8991790 |
533 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA402731070 rs1598965082 |
534 | N>K | No |
ClinGen Ensembl |
|
|
CA402731072 rs1313213317 |
534 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 534 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245492312 COSM989633 CA402731064 |
535 | R>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1245492312 CA402731065 |
535 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 536 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402731061 rs1246764662 |
536 | T>P | No |
ClinGen TOPMed |
|
|
rs765847179 CA8991788 |
537 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA8991787 rs760264043 |
539 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA402731034 rs749889296 |
540 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8991786 rs749889296 |
540 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 542 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402731019 rs1368992572 |
542 | E>G | No |
ClinGen gnomAD |
|
|
rs1440284311 CA402731022 |
542 | E>K | No |
ClinGen gnomAD |
|
|
rs767445363 CA8991785 |
543 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA8991784 rs761733099 |
543 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs774189883 CA8991783 |
544 | P>A | No |
ClinGen ExAC |
|
|
CA402731004 rs1284395348 |
544 | P>L | No |
ClinGen TOPMed |
|
|
rs774189883 CA402731008 |
544 | P>S | No |
ClinGen ExAC |
|
|
rs571116499 CA302306209 |
545 | V>A | No |
ClinGen 1000Genomes |
|
|
rs571116499 CA402731000 |
545 | V>D | No |
ClinGen 1000Genomes |
|
|
rs1443622570 CA402730987 |
547 | Y>C | No |
ClinGen gnomAD |
|
|
CA8991780 rs768475225 |
547 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA302306208 rs1013855720 |
548 | I>F | No |
ClinGen TOPMed |
|
|
rs1211268665 CA402730980 |
548 | I>N | No |
ClinGen TOPMed |
|
|
rs775809410 CA8991778 |
549 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs763120390 CA8991779 |
549 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 550 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419173125 CA402730963 |
551 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 553 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 553 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402730947 rs1249686408 |
553 | A>V | No |
ClinGen gnomAD |
|
|
rs745955503 CA8991776 |
554 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA402730946 rs1489452078 |
554 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1221560248 COSM989631 CA402730935 |
555 | N>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 556 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8991775 rs781356507 |
556 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 556 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771636477 CA8991774 |
558 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8991771 rs758759719 |
560 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8991770 rs752965631 |
562 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA402730874 rs1302853766 |
565 | T>N | No |
ClinGen gnomAD |
|
|
CA302306206 rs1011621976 |
565 | T>P | No |
ClinGen gnomAD |
|
|
CA402730875 rs1011621976 |
565 | T>S | No |
ClinGen gnomAD |
|
|
CA8991767 rs750000043 |
566 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs755653539 CA8991768 |
566 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1031984943 CA302306205 |
567 | T>P | No |
ClinGen Ensembl |
|
|
CA8991765 rs761787994 |
568 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs570028831 CA8991766 |
568 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8991763 rs763894852 |
569 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 570 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8991762 rs762825177 |
572 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1172410101 CA402730827 |
573 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA402730826 rs1198356030 |
573 | C>Y | No |
ClinGen gnomAD |
|
|
rs775087702 CA8991761 |
575 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs770062227 CA8991760 |
577 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568170015 CA402730794 |
578 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 578 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776911833 CA8991758 |
579 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8991756 rs747560102 |
580 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA8991757 rs771117251 |
580 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs772411740 CA8991754 |
581 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs201875592 CA8991755 |
581 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs748560534 CA402730768 |
582 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748560534 CA8991753 |
582 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1397542018 CA402730760 |
583 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 585 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755850405 CA8991751 |
586 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA402730729 rs1382423542 |
587 | L>R | No |
ClinGen gnomAD |
|
|
rs1339657613 CA402730725 |
588 | V>A | No |
ClinGen TOPMed |
|
|
rs750051171 CA8991750 |
588 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA302306203 rs1039297084 |
591 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs780716221 CA8991748 |
591 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1039297084 CA302306204 |
591 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA302306202 rs140371685 |
592 | G>E | No |
ClinGen 1000Genomes |
|
|
rs1175659199 CA402730698 |
593 | F>V | No |
ClinGen gnomAD |
|
|
CA8991747 rs752575939 |
595 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA302306201 rs1051722402 |
598 | I>V | No |
ClinGen Ensembl |
|
|
rs764104518 CA402730658 |
599 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758200517 CA8991744 |
599 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764104518 CA8991745 |
599 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs933971650 CA302306199 |
600 | A>S | No |
ClinGen Ensembl |
|
|
CA8991742 rs764929174 |
601 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs150398178 CA8991741 |
602 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 606 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8991739 rs766672388 |
606 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA302306198 rs913243965 |
608 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1227159697 CA402730599 |
608 | I>T | No |
ClinGen gnomAD |
|
|
CA302306197 rs913243965 |
608 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs921038171 CA302305770 |
611 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs140631556 CA8991716 |
611 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1254714771 CA402730558 |
612 | I>T | No |
ClinGen TOPMed |
|
| rs1568168060 | 614 | L>* | Variant assessed as Somatic; 5.582e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 614 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 615 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs534916310 CA8991714 |
617 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774746679 CA302305769 CA8991712 |
618 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 619 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146814012 CA8991707 |
621 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs749665230 COSM1389535 CA8991709 |
621 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8991706 rs775763894 |
622 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA402730479 rs1279677840 |
624 | Q>K | No |
ClinGen gnomAD |
|
|
CA302305768 COSM989627 rs998783491 |
625 | I>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1413928670 CA402730466 COSM1389534 |
626 | L>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1413928670 CA402730467 |
626 | L>V | No |
ClinGen TOPMed |
|
|
rs770635432 CA8991705 |
628 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA402730440 rs1175285463 |
630 | K>E | No |
ClinGen TOPMed |
|
|
rs746629934 CA8991704 |
630 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA302305766 rs140246002 |
631 | S>R | No |
ClinGen 1000Genomes TOPMed |
|
|
CA302305765 rs145028229 |
635 | R>K | No |
ClinGen ESP |
|
|
CA8991703 rs757816167 |
636 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA402730393 CA402730392 rs1365141706 |
636 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA8991702 rs757816167 |
636 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8991701 rs747654871 |
637 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747654871 CA402730390 |
637 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA302305764 rs1020965050 |
638 | I>V | No |
ClinGen Ensembl |
|
|
CA8991700 COSM1324516 rs779020171 |
639 | F>L | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs754909023 CA8991699 |
643 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 644 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8991697 rs55874520 |
645 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402730329 rs55874520 |
645 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8991698 rs55874520 |
645 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1432292758 CA402730330 |
645 | G>W | No |
ClinGen gnomAD |
|
|
CA402730328 rs201955048 |
646 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8991696 COSM3362583 rs201955048 |
646 | G>S | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA402730319 rs1490297248 |
647 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
COSM989626 rs1490297248 CA402730318 |
647 | G>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA8991693 rs369887397 |
648 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA302305762 rs780516811 |
649 | E>G | No |
ClinGen Ensembl |
|
|
rs147142082 CA8991690 |
653 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147142082 CA8991691 |
653 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751599227 CA8991692 |
653 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 654 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8991689 rs775892714 |
654 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402730270 rs1463795508 |
655 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8991688 rs770122707 |
656 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8991686 rs772771019 |
659 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402730225 rs1414258815 |
661 | S>R | No |
ClinGen TOPMed |
|
|
CA402730224 rs1346012072 |
662 | S>G | No |
ClinGen gnomAD |
|
|
rs993144787 CA302305761 |
664 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8991684 rs142233132 |
665 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402730200 rs142233132 |
665 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747627510 CA8991683 |
666 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 667 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177744658 CA402730191 |
667 | E>Q | No |
ClinGen gnomAD |
|
|
rs1480423587 CA402730182 |
668 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778502871 CA8991682 |
668 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA302305760 rs751067735 |
671 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8991681 rs545498190 |
671 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402730165 rs751067735 |
671 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA302305759 rs763731719 |
673 | T>I | No |
ClinGen Ensembl |
|
|
CA8991679 rs749212583 |
674 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444813749 CA402730140 |
675 | S>T | No |
ClinGen gnomAD |
|
|
CA8991678 rs780031462 |
676 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs780031462 COSM1200436 CA402730136 |
676 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA402730125 rs1224027654 |
677 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA302305756 rs944478445 |
677 | E>K | No |
ClinGen TOPMed |
|
|
rs1322812417 CA402730117 |
679 | R>G | No |
ClinGen gnomAD |
|
|
rs755888839 CA8991677 |
679 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781283949 CA8991675 |
681 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA630873488 rs1568167762 |
682 | Y>* | No |
ClinGen Ensembl |
|
|
CA8991673 rs751703202 |
682 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs757433699 CA8991674 |
682 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA8991671 rs763501703 |
683 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs931004889 CA302305755 |
684 | Q>R | No |
ClinGen Ensembl |
|
|
CA402730076 rs1598961250 |
685 | S>C | No |
ClinGen Ensembl |
|
|
rs1469734130 CA402730080 |
685 | S>T | No |
ClinGen gnomAD |
|
|
rs1172915041 CA402730059 |
688 | V>I | No |
ClinGen gnomAD |
|
|
CA402730048 rs1429506873 |
689 | G>D | No |
ClinGen gnomAD |
|
|
rs765694248 CA8991669 |
690 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753173128 CA8991670 |
690 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753173128 CA402730047 |
690 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761525181 CA8991665 |
691 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533652186 CA8991667 COSM709079 |
691 | D>N | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA8991666 rs533652186 |
691 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8991664 rs774065805 |
692 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA402730017 rs1261196694 |
695 | F>L | No |
ClinGen gnomAD |
|
|
rs766733858 CA402730011 |
695 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA402730016 rs1261196694 |
695 | F>V | No |
ClinGen gnomAD |
|
|
CA8991663 rs563201362 |
696 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1409839164 CA402729975 |
701 | E>Q | No |
ClinGen TOPMed |
|
|
CA402729967 rs1307962671 |
702 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 702 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334577587 CA402729955 |
703 | L>R | No |
ClinGen TOPMed |
|
|
rs1450796895 CA402729954 |
704 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM3422285 rs780158515 CA8991661 |
705 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8991660 rs769713878 |
709 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 709 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402729907 rs1332585000 |
710 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 710 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781034555 CA8991658 |
711 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745653400 CA8991659 |
711 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8991657 rs116586793 |
712 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs116586793 CA8991656 |
712 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 713 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427422770 CA402729885 |
714 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 716 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402729850 rs1253509547 |
719 | Q>H | No |
ClinGen gnomAD |
|
|
rs1178855245 CA402729843 |
720 | T>I | No |
ClinGen gnomAD |
|
|
CA402729838 rs1480951281 |
721 | Y>C | No |
ClinGen gnomAD |
|
|
rs1436059992 CA402729827 |
723 | F>L | No |
ClinGen TOPMed |
|
|
CA8991652 rs752725413 |
724 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs755450134 CA8991650 |
725 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs540672803 CA302305752 |
726 | T>I | No |
ClinGen 1000Genomes |
|
|
CA8991649 rs60951620 |
727 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402729773 rs1309310245 |
732 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs773043591 CA302305749 |
733 | L>P | No |
ClinGen Ensembl |
|
|
rs1392470134 CA402729756 |
734 | S>R | No |
ClinGen gnomAD |
|
|
CA8991646 rs774176158 |
735 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA402729747 rs1472316547 |
736 | L>S | No |
ClinGen TOPMed |
|
|
CA402729741 COSM989620 rs1468597611 |
737 | E>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA302305748 rs924670616 |
738 | S>T | No |
ClinGen TOPMed |
|
|
rs763787428 CA8991645 |
740 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1568167544 CA402729715 |
741 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 742 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762562329 CA8991644 COSM3362580 |
742 | D>H | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA402729705 rs775072291 |
743 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775072291 CA8991643 |
743 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775072291 CA402729706 |
743 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163790337 CA402729704 |
743 | Q>R | No |
ClinGen gnomAD |
|
|
CA8991642 rs149876065 |
744 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8991641 rs149876065 |
744 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402729689 rs1350150587 |
745 | E>G | No |
ClinGen gnomAD |
|
|
CA402729692 rs1366186991 |
745 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8991639 rs770730409 |
746 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs770730409 CA402729682 |
746 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA402729674 rs1249750026 |
747 | Y>C | No |
ClinGen gnomAD |
|
|
CA402729660 rs1179685652 |
749 | Y>H | No |
ClinGen gnomAD |
|
|
CA402729649 rs1568167496 |
750 | L>R | No |
ClinGen Ensembl |
|
|
CA402729642 rs1416691174 |
751 | N>K | No |
ClinGen TOPMed |
|
|
rs199795370 CA302305746 |
752 | E>Q | No |
ClinGen TOPMed |
|
|
rs777993875 CA8991637 |
755 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs998755762 CA302305745 |
755 | P>H | No |
ClinGen TOPMed |
|
|
rs998755762 CA402729617 |
755 | P>L | No |
ClinGen TOPMed |
|
|
rs777993875 CA402729619 |
755 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402729620 rs777993875 |
755 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366272665 COSM989619 CA402729616 |
756 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs748234081 CA8991635 |
758 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755498153 CA8991632 |
760 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1346514924 CA402729582 |
761 | A>T | No |
ClinGen gnomAD |
|
|
CA8991628 rs200967538 |
765 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 765 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8991629 rs200967538 |
765 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750755035 CA8991627 |
766 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA8991626 rs763843114 |
767 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA8991625 rs539480877 |
768 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA302305744 rs1010907149 |
771 | N>K | No |
ClinGen Ensembl |
|
|
rs1568167410 CA402729515 |
771 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 773 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9H159
6 regional properties for Q9H159
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Immunoglobulin subtype | 24 - 131 | IPR003599-1 |
| domain | Immunoglobulin subtype | 139 - 227 | IPR003599-2 |
| domain | Immunoglobulin-like domain | 33 - 127 | IPR007110-1 |
| domain | Immunoglobulin-like domain | 133 - 225 | IPR007110-2 |
| domain | Immunoglobulin V-set domain | 29 - 124 | IPR013106 |
| domain | CD80-like, immunoglobulin C2-set | 140 - 219 | IPR013162 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| catenin complex | Complex of peripheral cytoplasmic proteins (alpha-, beta- and gamma-catenin) that interact with the cytoplasmic region of uvomorulin/E-cadherin to connect it to the actin cytoskeleton. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| adherens junction organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an adherens junction. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments. |
| calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules | The attachment of one cell to another cell via adhesion molecules that require the presence of calcium for the interaction. |
| cell morphogenesis | The developmental process in which the size or shape of a cell is generated and organized. |
| cell-cell adhesion via plasma-membrane adhesion molecules | The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. |
| cell-cell junction assembly | The aggregation, arrangement and bonding together of a set of components to form a junction between cells. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
41 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SWX5 | CDH6 | Cadherin-6 | Bos taurus (Bovine) | PR |
| P79995 | CDH10 | Cadherin-10 | Gallus gallus (Chicken) | PR |
| Q8UVJ7 | CDHR1 | Cadherin-related family member 1 | Gallus gallus (Chicken) | PR |
| Q5DRC8 | PCDHB6 | Protocadherin beta-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE4 | PCDHA8 | Protocadherin alpha-8 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE6 | PCDHA6 | Protocadherin alpha-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRF0 | PCDHA2 | Protocadherin alpha-2 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE7 | PCDHA5 | Protocadherin alpha-5 | Pan troglodytes (Chimpanzee) | PR |
| Q9VJB6 | CadN2 | Putative neural-cadherin 2 | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y5E3 | PCDHB6 | Protocadherin beta-6 | Homo sapiens (Human) | PR |
| Q9Y5F1 | PCDHB12 | Protocadherin beta-12 | Homo sapiens (Human) | PR |
| O60330 | PCDHGA12 | Protocadherin gamma-A12 | Homo sapiens (Human) | PR |
| Q9P2E7 | PCDH10 | Protocadherin-10 | Homo sapiens (Human) | PR |
| Q9Y5I2 | PCDHA10 | Protocadherin alpha-10 | Homo sapiens (Human) | PR |
| Q9Y5H3 | PCDHGA10 | Protocadherin gamma-A10 | Homo sapiens (Human) | PR |
| Q9UN75 | PCDHA12 | Protocadherin alpha-12 | Homo sapiens (Human) | PR |
| Q9Y5I1 | PCDHA11 | Protocadherin alpha-11 | Homo sapiens (Human) | PR |
| Q9Y5H8 | PCDHA3 | Protocadherin alpha-3 | Homo sapiens (Human) | PR |
| Q9Y5H9 | PCDHA2 | Protocadherin alpha-2 | Homo sapiens (Human) | PR |
| Q9UN73 | PCDHA6 | Protocadherin alpha-6 | Homo sapiens (Human) | PR |
| Q9Y5H6 | PCDHA8 | Protocadherin alpha-8 | Homo sapiens (Human) | PR |
| Q9UN74 | PCDHA4 | Protocadherin alpha-4 | Homo sapiens (Human) | PR |
| Q9UN72 | PCDHA7 | Protocadherin alpha-7 | Homo sapiens (Human) | PR |
| Q9Y5H7 | PCDHA5 | Protocadherin alpha-5 | Homo sapiens (Human) | PR |
| Q9Y5G4 | PCDHGA9 | Protocadherin gamma-A9 | Homo sapiens (Human) | PR |
| Q9Y5G0 | PCDHGB5 | Protocadherin gamma-B5 | Homo sapiens (Human) | PR |
| Q6ZTQ4 | CDHR3 | Cadherin-related family member 3 | Homo sapiens (Human) | PR |
| P12830 | CDH1 | Cadherin-1 | Homo sapiens (Human) | PR |
| P19022 | CDH2 | Cadherin-2 | Homo sapiens (Human) | PR |
| Q9ULB4 | CDH9 | Cadherin-9 | Homo sapiens (Human) | PR |
| P55285 | CDH6 | Cadherin-6 | Homo sapiens (Human) | PR |
| Q9Y6N8 | CDH10 | Cadherin-10 | Homo sapiens (Human) | PR |
| P09803 | Cdh1 | Cadherin-1 | Mus musculus (Mouse) | PR |
| P15116 | Cdh2 | Cadherin-2 | Mus musculus (Mouse) | PR |
| P70407 | Cdh9 | Cadherin-9 | Mus musculus (Mouse) | PR |
| P97326 | Cdh6 | Cadherin-6 | Mus musculus (Mouse) | PR |
| P70408 | Cdh10 | Cadherin-10 | Mus musculus (Mouse) | PR |
| Q8VHF2 | Cdhr5 | Cadherin-related family member 5 | Mus musculus (Mouse) | PR |
| P55280 | Cdh6 | Cadherin-6 | Rattus norvegicus (Rat) | PR |
| Q9Z1Y3 | Cdh2 | Cadherin-2 | Rattus norvegicus (Rat) | PR |
| Q767I8 | Pcdha4 | Protocadherin alpha-4 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNCYLLLRFM | LGIPLLWPCL | GATENSQTKK | VKQPVRSHLR | VKRGWVWNQF | FVPEEMNTTS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HHIGQLRSDL | DNGNNSFQYK | LLGAGAGSTF | IIDERTGDIY | AIQKLDREER | SLYILRAQVI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DIATGRAVEP | ESEFVIKVSD | INDNEPKFLD | EPYEAIVPEM | SPEGTLVIQV | TASDADDPSS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GNNARLLYSL | LQGQPYFSVE | PTTGVIRISS | KMDRELQDEY | WVIIQAKDMI | GQPGALSGTT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SVLIKLSDVN | DNKPIFKESL | YRLTVSESAP | TGTSIGTIMA | YDNDIGENAE | MDYSIEEDDS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QTFDIITNHE | TQEGIVILKK | KVDFEHQNHY | GIRAKVKNHH | VPEQLMKYHT | EASTTFIKIQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VEDVDEPPLF | LLPYYVFEVF | EETPQGSFVG | VVSATDPDNR | KSPIRYSITR | SKVFNINDNG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TITTSNSLDR | EISAWYNLSI | TATEKYNIEQ | ISSIPLYVQV | LNINDHAPEF | SQYYETYVCE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NAGSGQVIQT | ISAVDRDESI | EEHHFYFNLS | VEDTNNSSFT | IIDNQDNTAV | ILTNRTGFNL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QEEPVFYISI | LIADNGIPSL | TSTNTLTIHV | CDCGDSGSTQ | TCQYQELVLS | MGFKTEVIIA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ILICIMIIFG | FIFLTLGLKQ | RRKQILFPEK | SEDFRENIFQ | YDDEGGGEED | TEAFDIAELR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SSTIMRERKT | RKTTSAEIRS | LYRQSLQVGP | DSAIFRKFIL | EKLEEANTDP | CAPPFDSLQT |
| 730 | 740 | 750 | 760 | 770 | |
| YAFEGTGSLA | GSLSSLESAV | SDQDESYDYL | NELGPRFKRL | ACMFGSAVQS | NN |